Incidental Mutation 'R9563:Pkd1l1'
| ID |
721257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd1l1
|
| Ensembl Gene |
ENSMUSG00000046634 |
| Gene Name |
polycystic kidney disease 1 like 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
8782025-8924365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8815502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1920
(T1920S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178195]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120803
Gene: ENSMUSG00000046634
AA Change: T1920S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
172 |
184 |
N/A |
INTRINSIC |
|
PKD
|
205 |
287 |
2.9e0 |
SMART |
|
PKD
|
291 |
369 |
1.42e-9 |
SMART |
|
Pfam:REJ
|
398 |
1001 |
1.7e-45 |
PFAM |
|
low complexity region
|
1208 |
1218 |
N/A |
INTRINSIC |
|
GPS
|
1370 |
1413 |
1.21e-1 |
SMART |
|
transmembrane domain
|
1434 |
1451 |
N/A |
INTRINSIC |
|
LH2
|
1479 |
1598 |
2.94e-3 |
SMART |
|
transmembrane domain
|
1640 |
1659 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1679 |
1701 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1817 |
1839 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1854 |
1876 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
2109 |
2339 |
1.5e-23 |
PFAM |
|
transmembrane domain
|
2381 |
2403 |
N/A |
INTRINSIC |
|
low complexity region
|
2436 |
2449 |
N/A |
INTRINSIC |
|
low complexity region
|
2458 |
2469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178195
AA Change: T1470S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136518
Gene: ENSMUSG00000046634
AA Change: T1470S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:REJ
|
3 |
552 |
3.3e-41 |
PFAM |
|
low complexity region
|
757 |
767 |
N/A |
INTRINSIC |
|
Blast:GPS
|
919 |
965 |
2e-13 |
BLAST |
|
transmembrane domain
|
983 |
1000 |
N/A |
INTRINSIC |
|
Pfam:PLAT
|
1030 |
1145 |
7.2e-14 |
PFAM |
|
transmembrane domain
|
1189 |
1208 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1228 |
1250 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1366 |
1388 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1403 |
1425 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
1658 |
1889 |
2e-25 |
PFAM |
|
transmembrane domain
|
1930 |
1952 |
N/A |
INTRINSIC |
|
low complexity region
|
1985 |
1998 |
N/A |
INTRINSIC |
|
low complexity region
|
2007 |
2018 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 127 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,645,009 (GRCm39) |
D953E |
probably damaging |
Het |
| Acod1 |
A |
C |
14: 103,287,109 (GRCm39) |
Y80S |
probably damaging |
Het |
| Actr5 |
A |
G |
2: 158,470,135 (GRCm39) |
D255G |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,312,944 (GRCm39) |
V393A |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,473,513 (GRCm39) |
K562R |
possibly damaging |
Het |
| Amz1 |
T |
A |
5: 140,738,133 (GRCm39) |
D464E |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,505,980 (GRCm39) |
Q619* |
probably null |
Het |
| Arfgef3 |
C |
T |
10: 18,522,275 (GRCm39) |
G584R |
probably damaging |
Het |
| Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
| Atr |
G |
C |
9: 95,802,833 (GRCm39) |
V1832L |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,616 (GRCm39) |
D374G |
|
Het |
| Cap1 |
A |
G |
4: 122,758,505 (GRCm39) |
V225A |
probably benign |
Het |
| Cc2d1a |
A |
G |
8: 84,863,758 (GRCm39) |
S562P |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,250,821 (GRCm39) |
N141S |
possibly damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,265,762 (GRCm39) |
V1390A |
possibly damaging |
Het |
| Cdc42ep1 |
A |
T |
15: 78,733,782 (GRCm39) |
H294L |
probably benign |
Het |
| Col6a6 |
C |
A |
9: 105,572,952 (GRCm39) |
G2185C |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,791,809 (GRCm39) |
V1232A |
unknown |
Het |
| Copb1 |
A |
G |
7: 113,836,034 (GRCm39) |
I449T |
possibly damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,563 (GRCm39) |
L594V |
probably benign |
Het |
| Ctdsp2 |
A |
G |
10: 126,832,040 (GRCm39) |
D216G |
probably damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,367,382 (GRCm39) |
K1645N |
probably benign |
Het |
| Cttnbp2 |
A |
T |
6: 18,427,467 (GRCm39) |
L738* |
probably null |
Het |
| Cul9 |
T |
A |
17: 46,820,897 (GRCm39) |
T1927S |
probably benign |
Het |
| Cyfip2 |
A |
G |
11: 46,151,707 (GRCm39) |
C531R |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,414,245 (GRCm39) |
I340T |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,992,251 (GRCm39) |
E322G |
unknown |
Het |
| Dab2ip |
T |
A |
2: 35,609,915 (GRCm39) |
L710* |
probably null |
Het |
| Degs1l |
G |
T |
1: 180,882,810 (GRCm39) |
V191F |
possibly damaging |
Het |
| Dph1 |
T |
C |
11: 75,076,825 (GRCm39) |
T60A |
possibly damaging |
Het |
| Eme1 |
T |
C |
11: 94,541,339 (GRCm39) |
D161G |
probably benign |
Het |
| Epha3 |
C |
T |
16: 63,366,510 (GRCm39) |
G980D |
possibly damaging |
Het |
| Eri3 |
T |
A |
4: 117,422,013 (GRCm39) |
V136E |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,228,233 (GRCm39) |
I1669N |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,588,071 (GRCm39) |
I568T |
probably damaging |
Het |
| F3 |
T |
A |
3: 121,527,822 (GRCm39) |
L85H |
|
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbxw14 |
T |
C |
9: 109,106,335 (GRCm39) |
Y234C |
probably benign |
Het |
| Fbxw25 |
T |
A |
9: 109,483,676 (GRCm39) |
N179Y |
|
Het |
| Foxr1 |
T |
A |
9: 44,352,199 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
T |
A |
8: 124,263,179 (GRCm39) |
V452E |
possibly damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,649,369 (GRCm39) |
V450A |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,774,824 (GRCm39) |
Y191C |
probably benign |
Het |
| H3c11 |
T |
C |
13: 21,967,221 (GRCm39) |
D107G |
probably damaging |
Het |
| Haus3 |
G |
A |
5: 34,325,300 (GRCm39) |
R120W |
probably benign |
Het |
| Herc1 |
G |
T |
9: 66,294,193 (GRCm39) |
|
probably null |
Het |
| Hyal2 |
T |
C |
9: 107,447,844 (GRCm39) |
W166R |
probably damaging |
Het |
| Inka1 |
T |
A |
9: 107,861,488 (GRCm39) |
Y276F |
probably benign |
Het |
| Itga7 |
C |
T |
10: 128,789,669 (GRCm39) |
A1003V |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,165,219 (GRCm39) |
I797F |
possibly damaging |
Het |
| Kank2 |
T |
C |
9: 21,705,852 (GRCm39) |
T389A |
possibly damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,779,737 (GRCm39) |
I203N |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,077,166 (GRCm39) |
L396Q |
probably damaging |
Het |
| Kng1 |
T |
G |
16: 22,879,170 (GRCm39) |
I78S |
probably damaging |
Het |
| Ldlrad4 |
T |
C |
18: 68,387,551 (GRCm39) |
S288P |
probably benign |
Het |
| Lmntd2 |
A |
G |
7: 140,790,701 (GRCm39) |
S516P |
|
Het |
| Lrp1b |
T |
A |
2: 41,185,711 (GRCm39) |
I1449F |
|
Het |
| Lrrk2 |
T |
A |
15: 91,634,043 (GRCm39) |
I1380K |
possibly damaging |
Het |
| Lvrn |
T |
G |
18: 47,017,506 (GRCm39) |
I612S |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,812,408 (GRCm39) |
L940P |
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,006,101 (GRCm39) |
M996L |
probably benign |
Het |
| Map3k3 |
T |
A |
11: 106,041,860 (GRCm39) |
I413N |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,863,167 (GRCm39) |
V629A |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 24,023,981 (GRCm39) |
E325G |
unknown |
Het |
| Mbnl1 |
A |
G |
3: 60,520,715 (GRCm39) |
N101S |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,703,869 (GRCm39) |
C199S |
probably damaging |
Het |
| Mmab |
T |
C |
5: 114,574,850 (GRCm39) |
E141G |
probably benign |
Het |
| Mtcl2 |
G |
A |
2: 156,902,182 (GRCm39) |
R278C |
probably damaging |
Het |
| Mtus2 |
T |
C |
5: 148,250,217 (GRCm39) |
L1317P |
|
Het |
| Muc6 |
T |
A |
7: 141,217,783 (GRCm39) |
T2297S |
possibly damaging |
Het |
| Myom2 |
A |
T |
8: 15,158,399 (GRCm39) |
K784* |
probably null |
Het |
| Nek1 |
A |
G |
8: 61,577,157 (GRCm39) |
E1118G |
probably benign |
Het |
| Nrtn |
A |
G |
17: 57,058,416 (GRCm39) |
V195A |
probably damaging |
Het |
| Nsd3 |
G |
A |
8: 26,204,230 (GRCm39) |
V420I |
|
Het |
| Or52e4 |
T |
C |
7: 104,706,281 (GRCm39) |
L276P |
possibly damaging |
Het |
| Or52z13 |
A |
T |
7: 103,247,225 (GRCm39) |
Q234L |
probably benign |
Het |
| Or5ac23 |
T |
C |
16: 59,149,765 (GRCm39) |
I36V |
probably benign |
Het |
| Or5b99 |
T |
A |
19: 12,976,983 (GRCm39) |
I211N |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,098 (GRCm39) |
M1V |
probably null |
Het |
| Or6ae1 |
G |
A |
7: 139,742,233 (GRCm39) |
T210I |
probably damaging |
Het |
| Or6c33 |
T |
C |
10: 129,853,287 (GRCm39) |
I19T |
probably benign |
Het |
| Or8b56 |
A |
T |
9: 38,739,014 (GRCm39) |
H3L |
probably benign |
Het |
| Pde10a |
G |
T |
17: 9,020,710 (GRCm39) |
A216S |
unknown |
Het |
| Phldb2 |
T |
C |
16: 45,645,247 (GRCm39) |
T400A |
possibly damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,981,419 (GRCm39) |
N567K |
probably benign |
Het |
| Pwp1 |
T |
A |
10: 85,712,370 (GRCm39) |
D141E |
probably damaging |
Het |
| Rab3ip |
T |
C |
10: 116,754,668 (GRCm39) |
E296G |
probably null |
Het |
| Rb1cc1 |
A |
G |
1: 6,314,339 (GRCm39) |
K337R |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,677,477 (GRCm39) |
D475G |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 108,637,997 (GRCm39) |
E253G |
possibly damaging |
Het |
| Rictor |
A |
T |
15: 6,797,562 (GRCm39) |
N306I |
possibly damaging |
Het |
| Rnf214 |
A |
T |
9: 45,811,141 (GRCm39) |
V174E |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,340,900 (GRCm39) |
F124S |
probably damaging |
Het |
| Rrad |
A |
G |
8: 105,355,324 (GRCm39) |
F228S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,595 (GRCm39) |
M1717K |
probably damaging |
Het |
| Scn3b |
A |
G |
9: 40,193,729 (GRCm39) |
D152G |
probably benign |
Het |
| Scn5a |
C |
A |
9: 119,315,803 (GRCm39) |
R1635L |
probably damaging |
Het |
| Sec61b |
A |
G |
4: 47,483,049 (GRCm39) |
Y93C |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,042,235 (GRCm39) |
Y739* |
probably null |
Het |
| Skor2 |
C |
T |
18: 76,946,376 (GRCm39) |
H33Y |
unknown |
Het |
| Slc26a7 |
T |
C |
4: 14,519,496 (GRCm39) |
N508S |
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,564,360 (GRCm39) |
I349V |
possibly damaging |
Het |
| Slit1 |
T |
C |
19: 41,596,874 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Sltm |
C |
T |
9: 70,480,841 (GRCm39) |
A231V |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,812,208 (GRCm39) |
S52P |
unknown |
Het |
| Sorl1 |
A |
G |
9: 41,957,893 (GRCm39) |
Y584H |
probably damaging |
Het |
| Spmip2 |
A |
T |
3: 79,356,616 (GRCm39) |
M140L |
probably benign |
Het |
| Ssbp1 |
T |
A |
6: 40,454,968 (GRCm39) |
S142R |
probably benign |
Het |
| Stard3 |
A |
G |
11: 98,270,797 (GRCm39) |
|
probably null |
Het |
| Strn3 |
G |
T |
12: 51,674,300 (GRCm39) |
H531N |
possibly damaging |
Het |
| Stx17 |
A |
G |
4: 48,180,739 (GRCm39) |
T195A |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmed5 |
A |
C |
5: 108,280,100 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
C |
T |
19: 10,838,960 (GRCm39) |
R494H |
probably benign |
Het |
| Tom1 |
A |
G |
8: 75,787,177 (GRCm39) |
K406E |
probably benign |
Het |
| Trav5d-4 |
A |
T |
14: 53,239,473 (GRCm39) |
N43Y |
probably damaging |
Het |
| Trbv19 |
G |
T |
6: 41,155,945 (GRCm39) |
K105N |
possibly damaging |
Het |
| Trim34a |
C |
T |
7: 103,910,328 (GRCm39) |
Q377* |
probably null |
Het |
| Trp53bp2 |
T |
A |
1: 182,276,378 (GRCm39) |
N786K |
probably benign |
Het |
| Trpc3 |
A |
G |
3: 36,705,683 (GRCm39) |
M504T |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,371,092 (GRCm39) |
M545L |
probably benign |
Het |
| Uggt1 |
A |
C |
1: 36,204,627 (GRCm39) |
V996G |
possibly damaging |
Het |
| Vmn2r65 |
G |
A |
7: 84,589,880 (GRCm39) |
Q679* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,692,833 (GRCm39) |
I2958V |
|
Het |
| Zbtb37 |
C |
T |
1: 160,847,840 (GRCm39) |
S389N |
possibly damaging |
Het |
| Zfp235 |
T |
C |
7: 23,841,669 (GRCm39) |
V696A |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,765,732 (GRCm39) |
C1420S |
probably damaging |
Het |
|
| Other mutations in Pkd1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Pkd1l1
|
APN |
11 |
8,911,971 (GRCm39) |
missense |
unknown |
|
|
IGL00156:Pkd1l1
|
APN |
11 |
8,900,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00161:Pkd1l1
|
APN |
11 |
8,879,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00489:Pkd1l1
|
APN |
11 |
8,784,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00495:Pkd1l1
|
APN |
11 |
8,818,493 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL00983:Pkd1l1
|
APN |
11 |
8,794,585 (GRCm39) |
missense |
probably benign |
|
|
IGL01071:Pkd1l1
|
APN |
11 |
8,798,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01093:Pkd1l1
|
APN |
11 |
8,851,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01295:Pkd1l1
|
APN |
11 |
8,883,685 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01311:Pkd1l1
|
APN |
11 |
8,851,174 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01412:Pkd1l1
|
APN |
11 |
8,900,409 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01978:Pkd1l1
|
APN |
11 |
8,911,336 (GRCm39) |
missense |
unknown |
|
|
IGL01999:Pkd1l1
|
APN |
11 |
8,786,291 (GRCm39) |
missense |
probably benign |
|
|
IGL02080:Pkd1l1
|
APN |
11 |
8,911,345 (GRCm39) |
missense |
unknown |
|
|
IGL02106:Pkd1l1
|
APN |
11 |
8,783,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02216:Pkd1l1
|
APN |
11 |
8,784,897 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02305:Pkd1l1
|
APN |
11 |
8,852,467 (GRCm39) |
missense |
probably benign |
|
|
IGL02337:Pkd1l1
|
APN |
11 |
8,892,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02576:Pkd1l1
|
APN |
11 |
8,794,560 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02704:Pkd1l1
|
APN |
11 |
8,784,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02814:Pkd1l1
|
APN |
11 |
8,852,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02904:Pkd1l1
|
APN |
11 |
8,818,450 (GRCm39) |
splice site |
probably benign |
|
|
IGL02972:Pkd1l1
|
APN |
11 |
8,813,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03091:Pkd1l1
|
APN |
11 |
8,805,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03113:Pkd1l1
|
APN |
11 |
8,784,793 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03210:Pkd1l1
|
APN |
11 |
8,915,127 (GRCm39) |
missense |
unknown |
|
|
PIT4581001:Pkd1l1
|
UTSW |
11 |
8,866,298 (GRCm39) |
frame shift |
probably null |
|
|
R0020:Pkd1l1
|
UTSW |
11 |
8,825,765 (GRCm39) |
splice site |
probably benign |
|
|
R0020:Pkd1l1
|
UTSW |
11 |
8,825,765 (GRCm39) |
splice site |
probably benign |
|
|
R0496:Pkd1l1
|
UTSW |
11 |
8,879,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0547:Pkd1l1
|
UTSW |
11 |
8,786,448 (GRCm39) |
splice site |
probably benign |
|
|
R0582:Pkd1l1
|
UTSW |
11 |
8,881,699 (GRCm39) |
splice site |
probably benign |
|
|
R0761:Pkd1l1
|
UTSW |
11 |
8,804,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0969:Pkd1l1
|
UTSW |
11 |
8,886,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1348:Pkd1l1
|
UTSW |
11 |
8,784,806 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1366:Pkd1l1
|
UTSW |
11 |
8,891,038 (GRCm39) |
splice site |
probably benign |
|
|
R1401:Pkd1l1
|
UTSW |
11 |
8,804,487 (GRCm39) |
nonsense |
probably null |
|
|
R1444:Pkd1l1
|
UTSW |
11 |
8,804,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Pkd1l1
|
UTSW |
11 |
8,820,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1463:Pkd1l1
|
UTSW |
11 |
8,866,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Pkd1l1
|
UTSW |
11 |
8,891,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1542:Pkd1l1
|
UTSW |
11 |
8,824,179 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1543:Pkd1l1
|
UTSW |
11 |
8,851,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Pkd1l1
|
UTSW |
11 |
8,900,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1875:Pkd1l1
|
UTSW |
11 |
8,794,670 (GRCm39) |
splice site |
probably benign |
|
|
R1929:Pkd1l1
|
UTSW |
11 |
8,786,197 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Pkd1l1
|
UTSW |
11 |
8,824,161 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2223:Pkd1l1
|
UTSW |
11 |
8,900,422 (GRCm39) |
missense |
probably benign |
|
|
R2223:Pkd1l1
|
UTSW |
11 |
8,839,063 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2264:Pkd1l1
|
UTSW |
11 |
8,829,112 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2349:Pkd1l1
|
UTSW |
11 |
8,776,819 (GRCm39) |
splice site |
probably null |
|
|
R2431:Pkd1l1
|
UTSW |
11 |
8,897,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2483:Pkd1l1
|
UTSW |
11 |
8,912,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Pkd1l1
|
UTSW |
11 |
8,908,900 (GRCm39) |
missense |
unknown |
|
|
R2888:Pkd1l1
|
UTSW |
11 |
8,897,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Pkd1l1
|
UTSW |
11 |
8,824,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3123:Pkd1l1
|
UTSW |
11 |
8,923,021 (GRCm39) |
missense |
unknown |
|
|
R3153:Pkd1l1
|
UTSW |
11 |
8,817,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3840:Pkd1l1
|
UTSW |
11 |
8,839,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Pkd1l1
|
UTSW |
11 |
8,915,047 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3880:Pkd1l1
|
UTSW |
11 |
8,911,983 (GRCm39) |
missense |
unknown |
|
|
R3970:Pkd1l1
|
UTSW |
11 |
8,824,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4195:Pkd1l1
|
UTSW |
11 |
8,859,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Pkd1l1
|
UTSW |
11 |
8,859,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4246:Pkd1l1
|
UTSW |
11 |
8,815,543 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4247:Pkd1l1
|
UTSW |
11 |
8,815,543 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4249:Pkd1l1
|
UTSW |
11 |
8,815,543 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4250:Pkd1l1
|
UTSW |
11 |
8,815,543 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4593:Pkd1l1
|
UTSW |
11 |
8,851,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4609:Pkd1l1
|
UTSW |
11 |
8,908,964 (GRCm39) |
missense |
unknown |
|
|
R4797:Pkd1l1
|
UTSW |
11 |
8,911,340 (GRCm39) |
missense |
unknown |
|
|
R4910:Pkd1l1
|
UTSW |
11 |
8,879,360 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4940:Pkd1l1
|
UTSW |
11 |
8,794,585 (GRCm39) |
missense |
probably benign |
|
|
R5084:Pkd1l1
|
UTSW |
11 |
8,892,004 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5147:Pkd1l1
|
UTSW |
11 |
8,799,003 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5360:Pkd1l1
|
UTSW |
11 |
8,829,204 (GRCm39) |
missense |
probably benign |
|
|
R5483:Pkd1l1
|
UTSW |
11 |
8,851,141 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5604:Pkd1l1
|
UTSW |
11 |
8,783,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5642:Pkd1l1
|
UTSW |
11 |
8,829,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Pkd1l1
|
UTSW |
11 |
8,859,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5751:Pkd1l1
|
UTSW |
11 |
8,817,204 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5761:Pkd1l1
|
UTSW |
11 |
8,866,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5800:Pkd1l1
|
UTSW |
11 |
8,811,302 (GRCm39) |
missense |
probably benign |
|
|
R5874:Pkd1l1
|
UTSW |
11 |
8,858,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Pkd1l1
|
UTSW |
11 |
8,829,176 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5913:Pkd1l1
|
UTSW |
11 |
8,813,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5930:Pkd1l1
|
UTSW |
11 |
8,908,969 (GRCm39) |
missense |
unknown |
|
|
R6000:Pkd1l1
|
UTSW |
11 |
8,900,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6005:Pkd1l1
|
UTSW |
11 |
8,807,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Pkd1l1
|
UTSW |
11 |
8,819,452 (GRCm39) |
splice site |
probably null |
|
|
R6027:Pkd1l1
|
UTSW |
11 |
8,866,272 (GRCm39) |
nonsense |
probably null |
|
|
R6028:Pkd1l1
|
UTSW |
11 |
8,786,267 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6129:Pkd1l1
|
UTSW |
11 |
8,818,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6182:Pkd1l1
|
UTSW |
11 |
8,815,555 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6226:Pkd1l1
|
UTSW |
11 |
8,851,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6257:Pkd1l1
|
UTSW |
11 |
8,892,195 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6340:Pkd1l1
|
UTSW |
11 |
8,794,649 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6478:Pkd1l1
|
UTSW |
11 |
8,813,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6558:Pkd1l1
|
UTSW |
11 |
8,839,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6750:Pkd1l1
|
UTSW |
11 |
8,923,217 (GRCm39) |
missense |
unknown |
|
|
R6987:Pkd1l1
|
UTSW |
11 |
8,852,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6996:Pkd1l1
|
UTSW |
11 |
8,799,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Pkd1l1
|
UTSW |
11 |
8,840,737 (GRCm39) |
missense |
|
|
|
R7224:Pkd1l1
|
UTSW |
11 |
8,895,241 (GRCm39) |
missense |
|
|
|
R7244:Pkd1l1
|
UTSW |
11 |
8,821,771 (GRCm39) |
missense |
|
|
|
R7265:Pkd1l1
|
UTSW |
11 |
8,879,402 (GRCm39) |
missense |
|
|
|
R7358:Pkd1l1
|
UTSW |
11 |
8,895,202 (GRCm39) |
missense |
|
|
|
R7387:Pkd1l1
|
UTSW |
11 |
8,851,203 (GRCm39) |
missense |
|
|
|
R7414:Pkd1l1
|
UTSW |
11 |
8,866,267 (GRCm39) |
missense |
|
|
|
R7459:Pkd1l1
|
UTSW |
11 |
8,852,428 (GRCm39) |
missense |
|
|
|
R7478:Pkd1l1
|
UTSW |
11 |
8,879,441 (GRCm39) |
missense |
|
|
|
R7485:Pkd1l1
|
UTSW |
11 |
8,915,148 (GRCm39) |
missense |
|
|
|
R7490:Pkd1l1
|
UTSW |
11 |
8,866,265 (GRCm39) |
missense |
|
|
|
R7644:Pkd1l1
|
UTSW |
11 |
8,825,758 (GRCm39) |
missense |
|
|
|
R7647:Pkd1l1
|
UTSW |
11 |
8,897,296 (GRCm39) |
missense |
|
|
|
R7676:Pkd1l1
|
UTSW |
11 |
8,912,708 (GRCm39) |
missense |
|
|
|
R7687:Pkd1l1
|
UTSW |
11 |
8,804,390 (GRCm39) |
missense |
|
|
|
R7699:Pkd1l1
|
UTSW |
11 |
8,915,142 (GRCm39) |
missense |
|
|
|
R7922:Pkd1l1
|
UTSW |
11 |
8,859,857 (GRCm39) |
missense |
|
|
|
R7922:Pkd1l1
|
UTSW |
11 |
8,799,013 (GRCm39) |
missense |
|
|
|
R7980:Pkd1l1
|
UTSW |
11 |
8,804,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7993:Pkd1l1
|
UTSW |
11 |
8,895,262 (GRCm39) |
missense |
|
|
|
R8052:Pkd1l1
|
UTSW |
11 |
8,897,315 (GRCm39) |
missense |
|
|
|
R8125:Pkd1l1
|
UTSW |
11 |
8,897,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8420:Pkd1l1
|
UTSW |
11 |
8,820,277 (GRCm39) |
nonsense |
probably null |
|
|
R8675:Pkd1l1
|
UTSW |
11 |
8,798,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8683:Pkd1l1
|
UTSW |
11 |
8,821,805 (GRCm39) |
missense |
|
|
|
R8709:Pkd1l1
|
UTSW |
11 |
8,805,567 (GRCm39) |
missense |
|
|
|
R8711:Pkd1l1
|
UTSW |
11 |
8,815,550 (GRCm39) |
missense |
|
|
|
R8725:Pkd1l1
|
UTSW |
11 |
8,911,482 (GRCm39) |
missense |
|
|
|
R8733:Pkd1l1
|
UTSW |
11 |
8,883,657 (GRCm39) |
missense |
|
|
|
R8822:Pkd1l1
|
UTSW |
11 |
8,806,312 (GRCm39) |
missense |
|
|
|
R8871:Pkd1l1
|
UTSW |
11 |
8,900,503 (GRCm39) |
missense |
|
|
|
R9009:Pkd1l1
|
UTSW |
11 |
8,881,552 (GRCm39) |
missense |
|
|
|
R9099:Pkd1l1
|
UTSW |
11 |
8,922,986 (GRCm39) |
missense |
|
|
|
R9119:Pkd1l1
|
UTSW |
11 |
8,829,107 (GRCm39) |
missense |
|
|
|
R9150:Pkd1l1
|
UTSW |
11 |
8,786,256 (GRCm39) |
missense |
|
|
|
R9314:Pkd1l1
|
UTSW |
11 |
8,829,153 (GRCm39) |
missense |
|
|
|
R9341:Pkd1l1
|
UTSW |
11 |
8,911,305 (GRCm39) |
missense |
|
|
|
R9341:Pkd1l1
|
UTSW |
11 |
8,786,399 (GRCm39) |
missense |
|
|
|
R9343:Pkd1l1
|
UTSW |
11 |
8,911,305 (GRCm39) |
missense |
|
|
|
R9343:Pkd1l1
|
UTSW |
11 |
8,786,399 (GRCm39) |
missense |
|
|
|
R9392:Pkd1l1
|
UTSW |
11 |
8,794,567 (GRCm39) |
missense |
|
|
|
R9424:Pkd1l1
|
UTSW |
11 |
8,820,091 (GRCm39) |
missense |
|
|
|
R9496:Pkd1l1
|
UTSW |
11 |
8,783,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9504:Pkd1l1
|
UTSW |
11 |
8,815,631 (GRCm39) |
missense |
|
|
|
R9570:Pkd1l1
|
UTSW |
11 |
8,840,697 (GRCm39) |
missense |
|
|
|
R9585:Pkd1l1
|
UTSW |
11 |
8,804,390 (GRCm39) |
missense |
|
|
|
R9618:Pkd1l1
|
UTSW |
11 |
8,911,420 (GRCm39) |
missense |
|
|
|
R9709:Pkd1l1
|
UTSW |
11 |
8,799,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9741:Pkd1l1
|
UTSW |
11 |
8,897,224 (GRCm39) |
missense |
|
|
|
R9801:Pkd1l1
|
UTSW |
11 |
8,908,964 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Pkd1l1
|
UTSW |
11 |
8,900,413 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0063:Pkd1l1
|
UTSW |
11 |
8,879,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0065:Pkd1l1
|
UTSW |
11 |
8,859,921 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Pkd1l1
|
UTSW |
11 |
8,776,801 (GRCm39) |
missense |
|
|
|
Z1177:Pkd1l1
|
UTSW |
11 |
8,895,208 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGGGATTGGGGTAAATGTAAG -3'
(R):5'- CAGAAAGATGGCTCTGTGGG -3'
Sequencing Primer
(F):5'- GGAAAGAAGCTTAAGAAATTCACAC -3'
(R):5'- CAGATGTGGATGCTGGGCAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation