Incidental Mutation 'R4910:Pkd1l1'
| ID |
379427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd1l1
|
| Ensembl Gene |
ENSMUSG00000046634 |
| Gene Name |
polycystic kidney disease 1 like 1 |
| Synonyms |
|
| MMRRC Submission |
042512-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
8826708-8973266 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8929360 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 497
(Y497F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178195]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000154153
AA Change: Y947F
|
| SMART Domains |
Protein: ENSMUSP00000120803
Gene: ENSMUSG00000046634
AA Change: Y947F
| 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 |
possibly damaging
Transcript: ENSMUST00000178195
AA Change: Y497F
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136518
Gene: ENSMUSG00000046634
AA Change: Y497F
| 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 |
|
| Meta Mutation Damage Score |
0.4928 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.6%
- 20x: 86.1%
|
| Validation Efficiency |
95% (144/151) |
| 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: 123 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
C |
A |
3: 36,998,199 (GRCm38) |
T3016K |
probably damaging |
Het |
| Adam3 |
T |
A |
8: 24,694,305 (GRCm38) |
I560L |
probably benign |
Het |
| Agxt |
T |
C |
1: 93,135,714 (GRCm38) |
F113L |
probably benign |
Het |
| Aknad1 |
T |
A |
3: 108,781,252 (GRCm38) |
|
probably null |
Het |
| Alpk2 |
T |
A |
18: 65,266,286 (GRCm38) |
K2074* |
probably null |
Het |
| Apob |
A |
G |
12: 8,007,848 (GRCm38) |
Y2077C |
probably damaging |
Het |
| Arhgap17 |
A |
T |
7: 123,308,377 (GRCm38) |
L254Q |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 38,993,637 (GRCm38) |
|
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,272,828 (GRCm38) |
D171G |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,342,203 (GRCm38) |
S2003T |
probably damaging |
Het |
| Armc5 |
T |
G |
7: 128,240,728 (GRCm38) |
L406R |
possibly damaging |
Het |
| Arsb |
T |
C |
13: 93,771,977 (GRCm38) |
V67A |
probably benign |
Het |
| Aspm |
A |
G |
1: 139,491,543 (GRCm38) |
Y2982C |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,808,048 (GRCm38) |
L487P |
probably damaging |
Het |
| Card11 |
C |
G |
5: 140,874,414 (GRCm38) |
D1063H |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,798,691 (GRCm38) |
T615M |
probably damaging |
Het |
| Cd101 |
T |
A |
3: 100,993,889 (GRCm38) |
T960S |
probably benign |
Het |
| Cdca7l |
C |
A |
12: 117,873,785 (GRCm38) |
S191* |
probably null |
Het |
| Cemip |
A |
T |
7: 83,997,411 (GRCm38) |
I143N |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,782,263 (GRCm38) |
E161K |
possibly damaging |
Het |
| Chrm2 |
A |
T |
6: 36,524,233 (GRCm38) |
T342S |
probably benign |
Het |
| Cib2 |
A |
G |
9: 54,549,879 (GRCm38) |
F34L |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 95,733,231 (GRCm38) |
I1836N |
probably benign |
Het |
| Col4a3 |
C |
A |
1: 82,672,679 (GRCm38) |
P552Q |
unknown |
Het |
| Cp |
T |
A |
3: 19,989,224 (GRCm38) |
|
probably benign |
Het |
| Cul3 |
C |
T |
1: 80,290,089 (GRCm38) |
V112I |
probably benign |
Het |
| Dcdc5 |
A |
G |
2: 106,365,550 (GRCm38) |
|
noncoding transcript |
Het |
| Disp1 |
A |
T |
1: 183,135,463 (GRCm38) |
V133E |
probably damaging |
Het |
| Dlg4 |
A |
G |
11: 70,030,925 (GRCm38) |
D30G |
probably damaging |
Het |
| Dopey1 |
C |
T |
9: 86,492,061 (GRCm38) |
T191I |
probably damaging |
Het |
| Enam |
T |
G |
5: 88,502,314 (GRCm38) |
S561A |
probably benign |
Het |
| Fbxw8 |
G |
T |
5: 118,125,027 (GRCm38) |
|
probably null |
Het |
| Filip1 |
A |
G |
9: 79,817,932 (GRCm38) |
V1135A |
probably benign |
Het |
| Galnt6 |
T |
C |
15: 100,716,178 (GRCm38) |
T81A |
probably benign |
Het |
| Ghdc |
T |
C |
11: 100,766,988 (GRCm38) |
K472E |
probably benign |
Het |
| Gm10568 |
T |
G |
1: 3,680,941 (GRCm38) |
|
noncoding transcript |
Het |
| Gm4788 |
T |
G |
1: 139,774,563 (GRCm38) |
D61A |
probably damaging |
Het |
| Gm4953 |
T |
A |
1: 159,168,359 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6871 |
T |
A |
7: 41,573,592 (GRCm38) |
H24L |
probably benign |
Het |
| Gm8298 |
T |
A |
3: 59,869,014 (GRCm38) |
|
probably null |
Het |
| Gpr155 |
G |
A |
2: 73,367,538 (GRCm38) |
Q413* |
probably null |
Het |
| Grhl2 |
A |
G |
15: 37,291,676 (GRCm38) |
|
probably null |
Het |
| Ighv1-31 |
G |
C |
12: 114,829,508 (GRCm38) |
S36* |
probably null |
Het |
| Ighv8-5 |
A |
G |
12: 115,067,842 (GRCm38) |
S26P |
probably damaging |
Het |
| Igkv17-134 |
A |
C |
6: 67,720,926 (GRCm38) |
|
probably benign |
Het |
| Igkv5-48 |
A |
C |
6: 69,726,849 (GRCm38) |
L24R |
probably damaging |
Het |
| Isg20l2 |
T |
A |
3: 87,939,263 (GRCm38) |
V340E |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,244,901 (GRCm38) |
Y447C |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,327,292 (GRCm38) |
S855P |
probably damaging |
Het |
| Mgat4e |
A |
T |
1: 134,541,864 (GRCm38) |
N147K |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,958,212 (GRCm38) |
L315P |
possibly damaging |
Het |
| Mrgpra2a |
A |
G |
7: 47,426,544 (GRCm38) |
V322A |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,709,955 (GRCm38) |
|
probably null |
Het |
| Mybpc1 |
T |
A |
10: 88,555,724 (GRCm38) |
K304* |
probably null |
Het |
| Nlrp14 |
A |
C |
7: 107,186,583 (GRCm38) |
D622A |
possibly damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,217,277 (GRCm38) |
H466L |
probably benign |
Het |
| Nlrp4d |
T |
A |
7: 10,378,409 (GRCm38) |
|
noncoding transcript |
Het |
| Nrxn3 |
A |
G |
12: 89,260,360 (GRCm38) |
E628G |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 123,927,131 (GRCm38) |
R530G |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 102,195,800 (GRCm38) |
S21P |
unknown |
Het |
| Olfr1307 |
A |
T |
2: 111,945,078 (GRCm38) |
I126K |
possibly damaging |
Het |
| Olfr168 |
T |
C |
16: 19,530,018 (GRCm38) |
T301A |
probably benign |
Het |
| Olfr173 |
T |
A |
16: 58,797,442 (GRCm38) |
T135S |
probably benign |
Het |
| Olfr251 |
T |
A |
9: 38,378,742 (GRCm38) |
V287E |
probably null |
Het |
| Olfr671 |
G |
A |
7: 104,975,479 (GRCm38) |
P169S |
possibly damaging |
Het |
| Olfr753-ps1 |
T |
C |
17: 37,170,043 (GRCm38) |
I202V |
probably benign |
Het |
| Olfr798 |
T |
C |
10: 129,625,807 (GRCm38) |
T85A |
probably damaging |
Het |
| Otog |
A |
T |
7: 46,298,534 (GRCm38) |
I2320F |
probably damaging |
Het |
| Otog |
A |
T |
7: 46,264,062 (GRCm38) |
Y773F |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,879,517 (GRCm38) |
S433G |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,485,159 (GRCm38) |
M1L |
possibly damaging |
Het |
| Pde7b |
T |
A |
10: 20,724,734 (GRCm38) |
|
probably benign |
Het |
| Pgm2 |
T |
C |
4: 99,963,527 (GRCm38) |
V207A |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,572,687 (GRCm38) |
V1116E |
probably damaging |
Het |
| Pomgnt2 |
T |
C |
9: 121,982,947 (GRCm38) |
N256S |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,746,021 (GRCm38) |
|
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,544,323 (GRCm38) |
T732A |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,455,823 (GRCm38) |
|
probably benign |
Het |
| Ptpro |
T |
C |
6: 137,368,338 (GRCm38) |
V114A |
probably damaging |
Het |
| Pyurf |
A |
G |
6: 57,691,948 (GRCm38) |
S20P |
unknown |
Het |
| Rasgrf1 |
A |
G |
9: 89,976,752 (GRCm38) |
T488A |
probably benign |
Het |
| Rassf8 |
A |
T |
6: 145,815,280 (GRCm38) |
K111* |
probably null |
Het |
| Reps1 |
A |
T |
10: 18,107,688 (GRCm38) |
E426D |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,933,778 (GRCm38) |
K982R |
probably damaging |
Het |
| Rps23 |
T |
C |
13: 90,923,752 (GRCm38) |
|
probably null |
Het |
| Scamp4 |
T |
A |
10: 80,609,671 (GRCm38) |
V56E |
probably damaging |
Het |
| Serpina1c |
C |
T |
12: 103,895,032 (GRCm38) |
V408I |
probably benign |
Het |
| Sigirr |
A |
G |
7: 141,093,788 (GRCm38) |
W49R |
probably damaging |
Het |
| Slc17a6 |
A |
T |
7: 51,658,741 (GRCm38) |
H271L |
possibly damaging |
Het |
| Slc7a5 |
G |
T |
8: 121,885,122 (GRCm38) |
T389K |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,043,880 (GRCm38) |
H945L |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,632,722 (GRCm38) |
S662P |
probably damaging |
Het |
| Snta1 |
C |
A |
2: 154,377,018 (GRCm38) |
E466* |
probably null |
Het |
| Sowaha |
A |
G |
11: 53,478,445 (GRCm38) |
L488P |
probably damaging |
Het |
| Spata17 |
C |
A |
1: 187,194,011 (GRCm38) |
V41F |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,217,863 (GRCm38) |
|
probably null |
Het |
| Srrm2 |
T |
A |
17: 23,815,388 (GRCm38) |
|
probably benign |
Het |
| Stard13 |
T |
C |
5: 151,062,527 (GRCm38) |
N388S |
probably benign |
Het |
| Stmn3 |
T |
C |
2: 181,308,837 (GRCm38) |
K59E |
probably damaging |
Het |
| Sval1 |
A |
G |
6: 41,955,444 (GRCm38) |
N76S |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,096,276 (GRCm38) |
H1448R |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,358,224 (GRCm38) |
D986E |
probably benign |
Het |
| Sytl5 |
C |
T |
X: 9,915,602 (GRCm38) |
P181L |
possibly damaging |
Het |
| Tbkbp1 |
G |
A |
11: 97,139,130 (GRCm38) |
S400L |
probably benign |
Het |
| Tesc |
G |
T |
5: 118,056,466 (GRCm38) |
|
probably benign |
Het |
| Tjp1 |
C |
T |
7: 65,343,727 (GRCm38) |
G33R |
probably damaging |
Het |
| Tlr11 |
C |
A |
14: 50,362,889 (GRCm38) |
F777L |
probably benign |
Het |
| Tmem156 |
A |
G |
5: 65,091,462 (GRCm38) |
|
probably benign |
Het |
| Top3a |
A |
G |
11: 60,752,378 (GRCm38) |
|
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,556,519 (GRCm38) |
W162R |
probably damaging |
Het |
| Tpd52l2 |
A |
T |
2: 181,515,212 (GRCm38) |
|
probably benign |
Het |
| Trim80 |
G |
A |
11: 115,446,455 (GRCm38) |
G381D |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,215,123 (GRCm38) |
P113L |
probably damaging |
Het |
| Vmn2r117 |
TC |
T |
17: 23,479,513 (GRCm38) |
|
probably null |
Het |
| Vmn2r56 |
T |
A |
7: 12,715,535 (GRCm38) |
I259F |
possibly damaging |
Het |
| Vmn2r59 |
T |
C |
7: 42,043,653 (GRCm38) |
T508A |
probably benign |
Het |
| Wdr73 |
A |
G |
7: 80,891,708 (GRCm38) |
V362A |
probably damaging |
Het |
| Zdhhc21 |
G |
T |
4: 82,820,331 (GRCm38) |
T207K |
possibly damaging |
Het |
| Zfp120 |
T |
A |
2: 150,117,952 (GRCm38) |
Q150L |
probably damaging |
Het |
| Zfp212 |
C |
A |
6: 47,931,499 (GRCm38) |
Q471K |
possibly damaging |
Het |
| Zfp804b |
C |
T |
5: 6,770,540 (GRCm38) |
G841D |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 167,037,482 (GRCm38) |
A1658D |
probably benign |
Het |
| Znfx1 |
A |
T |
2: 167,036,804 (GRCm38) |
M1884K |
probably damaging |
Het |
|
| Other mutations in Pkd1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Pkd1l1
|
APN |
11 |
8,961,971 (GRCm38) |
missense |
unknown |
|
|
IGL00156:Pkd1l1
|
APN |
11 |
8,950,515 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00161:Pkd1l1
|
APN |
11 |
8,929,353 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00489:Pkd1l1
|
APN |
11 |
8,834,773 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00495:Pkd1l1
|
APN |
11 |
8,868,493 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL00983:Pkd1l1
|
APN |
11 |
8,844,585 (GRCm38) |
missense |
probably benign |
|
|
IGL01071:Pkd1l1
|
APN |
11 |
8,848,921 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01093:Pkd1l1
|
APN |
11 |
8,901,345 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01295:Pkd1l1
|
APN |
11 |
8,933,685 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01311:Pkd1l1
|
APN |
11 |
8,901,174 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL01412:Pkd1l1
|
APN |
11 |
8,950,409 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL01978:Pkd1l1
|
APN |
11 |
8,961,336 (GRCm38) |
missense |
unknown |
|
|
IGL01999:Pkd1l1
|
APN |
11 |
8,836,291 (GRCm38) |
missense |
probably benign |
|
|
IGL02080:Pkd1l1
|
APN |
11 |
8,961,345 (GRCm38) |
missense |
unknown |
|
|
IGL02106:Pkd1l1
|
APN |
11 |
8,833,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02216:Pkd1l1
|
APN |
11 |
8,834,897 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02305:Pkd1l1
|
APN |
11 |
8,902,467 (GRCm38) |
missense |
probably benign |
|
|
IGL02337:Pkd1l1
|
APN |
11 |
8,942,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02576:Pkd1l1
|
APN |
11 |
8,844,560 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL02704:Pkd1l1
|
APN |
11 |
8,834,910 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02814:Pkd1l1
|
APN |
11 |
8,902,582 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02904:Pkd1l1
|
APN |
11 |
8,868,450 (GRCm38) |
splice site |
probably benign |
|
|
IGL02972:Pkd1l1
|
APN |
11 |
8,863,908 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03091:Pkd1l1
|
APN |
11 |
8,855,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03113:Pkd1l1
|
APN |
11 |
8,834,793 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL03210:Pkd1l1
|
APN |
11 |
8,965,127 (GRCm38) |
missense |
unknown |
|
|
PIT4581001:Pkd1l1
|
UTSW |
11 |
8,916,298 (GRCm38) |
frame shift |
probably null |
|
|
R0020:Pkd1l1
|
UTSW |
11 |
8,875,765 (GRCm38) |
splice site |
probably benign |
|
|
R0020:Pkd1l1
|
UTSW |
11 |
8,875,765 (GRCm38) |
splice site |
probably benign |
|
|
R0496:Pkd1l1
|
UTSW |
11 |
8,929,430 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0547:Pkd1l1
|
UTSW |
11 |
8,836,448 (GRCm38) |
splice site |
probably benign |
|
|
R0582:Pkd1l1
|
UTSW |
11 |
8,931,699 (GRCm38) |
splice site |
probably benign |
|
|
R0761:Pkd1l1
|
UTSW |
11 |
8,854,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0969:Pkd1l1
|
UTSW |
11 |
8,936,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1348:Pkd1l1
|
UTSW |
11 |
8,834,806 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1366:Pkd1l1
|
UTSW |
11 |
8,941,038 (GRCm38) |
splice site |
probably benign |
|
|
R1401:Pkd1l1
|
UTSW |
11 |
8,854,487 (GRCm38) |
nonsense |
probably null |
|
|
R1444:Pkd1l1
|
UTSW |
11 |
8,854,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1445:Pkd1l1
|
UTSW |
11 |
8,870,313 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1463:Pkd1l1
|
UTSW |
11 |
8,916,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1496:Pkd1l1
|
UTSW |
11 |
8,941,077 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1542:Pkd1l1
|
UTSW |
11 |
8,874,179 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1543:Pkd1l1
|
UTSW |
11 |
8,901,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1619:Pkd1l1
|
UTSW |
11 |
8,950,413 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1875:Pkd1l1
|
UTSW |
11 |
8,844,670 (GRCm38) |
splice site |
probably benign |
|
|
R1929:Pkd1l1
|
UTSW |
11 |
8,836,197 (GRCm38) |
splice site |
probably benign |
|
|
R1958:Pkd1l1
|
UTSW |
11 |
8,874,161 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2223:Pkd1l1
|
UTSW |
11 |
8,950,422 (GRCm38) |
missense |
probably benign |
|
|
R2223:Pkd1l1
|
UTSW |
11 |
8,889,063 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2264:Pkd1l1
|
UTSW |
11 |
8,879,112 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2349:Pkd1l1
|
UTSW |
11 |
8,826,819 (GRCm38) |
splice site |
probably null |
|
|
R2431:Pkd1l1
|
UTSW |
11 |
8,947,197 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2483:Pkd1l1
|
UTSW |
11 |
8,962,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2517:Pkd1l1
|
UTSW |
11 |
8,958,900 (GRCm38) |
missense |
unknown |
|
|
R2888:Pkd1l1
|
UTSW |
11 |
8,947,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2965:Pkd1l1
|
UTSW |
11 |
8,874,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3123:Pkd1l1
|
UTSW |
11 |
8,973,021 (GRCm38) |
missense |
unknown |
|
|
R3153:Pkd1l1
|
UTSW |
11 |
8,867,207 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3840:Pkd1l1
|
UTSW |
11 |
8,889,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3855:Pkd1l1
|
UTSW |
11 |
8,965,047 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3880:Pkd1l1
|
UTSW |
11 |
8,961,983 (GRCm38) |
missense |
unknown |
|
|
R3970:Pkd1l1
|
UTSW |
11 |
8,874,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4195:Pkd1l1
|
UTSW |
11 |
8,909,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4196:Pkd1l1
|
UTSW |
11 |
8,909,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4246:Pkd1l1
|
UTSW |
11 |
8,865,543 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4247:Pkd1l1
|
UTSW |
11 |
8,865,543 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4249:Pkd1l1
|
UTSW |
11 |
8,865,543 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4250:Pkd1l1
|
UTSW |
11 |
8,865,543 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4593:Pkd1l1
|
UTSW |
11 |
8,901,253 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4609:Pkd1l1
|
UTSW |
11 |
8,958,964 (GRCm38) |
missense |
unknown |
|
|
R4797:Pkd1l1
|
UTSW |
11 |
8,961,340 (GRCm38) |
missense |
unknown |
|
|
R4940:Pkd1l1
|
UTSW |
11 |
8,844,585 (GRCm38) |
missense |
probably benign |
|
|
R5084:Pkd1l1
|
UTSW |
11 |
8,942,004 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5147:Pkd1l1
|
UTSW |
11 |
8,849,003 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5360:Pkd1l1
|
UTSW |
11 |
8,879,204 (GRCm38) |
missense |
probably benign |
|
|
R5483:Pkd1l1
|
UTSW |
11 |
8,901,141 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5604:Pkd1l1
|
UTSW |
11 |
8,833,877 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5642:Pkd1l1
|
UTSW |
11 |
8,879,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5652:Pkd1l1
|
UTSW |
11 |
8,909,889 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5751:Pkd1l1
|
UTSW |
11 |
8,867,204 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R5761:Pkd1l1
|
UTSW |
11 |
8,916,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5800:Pkd1l1
|
UTSW |
11 |
8,861,302 (GRCm38) |
missense |
probably benign |
|
|
R5874:Pkd1l1
|
UTSW |
11 |
8,908,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5897:Pkd1l1
|
UTSW |
11 |
8,879,176 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5913:Pkd1l1
|
UTSW |
11 |
8,863,849 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5930:Pkd1l1
|
UTSW |
11 |
8,958,969 (GRCm38) |
missense |
unknown |
|
|
R6000:Pkd1l1
|
UTSW |
11 |
8,950,427 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6005:Pkd1l1
|
UTSW |
11 |
8,857,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6013:Pkd1l1
|
UTSW |
11 |
8,869,452 (GRCm38) |
splice site |
probably null |
|
|
R6027:Pkd1l1
|
UTSW |
11 |
8,916,272 (GRCm38) |
nonsense |
probably null |
|
|
R6028:Pkd1l1
|
UTSW |
11 |
8,836,267 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6129:Pkd1l1
|
UTSW |
11 |
8,868,543 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6182:Pkd1l1
|
UTSW |
11 |
8,865,555 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6226:Pkd1l1
|
UTSW |
11 |
8,901,287 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6257:Pkd1l1
|
UTSW |
11 |
8,942,195 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6340:Pkd1l1
|
UTSW |
11 |
8,844,649 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6478:Pkd1l1
|
UTSW |
11 |
8,863,911 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6558:Pkd1l1
|
UTSW |
11 |
8,889,052 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6750:Pkd1l1
|
UTSW |
11 |
8,973,217 (GRCm38) |
missense |
unknown |
|
|
R6987:Pkd1l1
|
UTSW |
11 |
8,902,575 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6996:Pkd1l1
|
UTSW |
11 |
8,849,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7139:Pkd1l1
|
UTSW |
11 |
8,890,737 (GRCm38) |
missense |
|
|
|
R7224:Pkd1l1
|
UTSW |
11 |
8,945,241 (GRCm38) |
missense |
|
|
|
R7244:Pkd1l1
|
UTSW |
11 |
8,871,771 (GRCm38) |
missense |
|
|
|
R7265:Pkd1l1
|
UTSW |
11 |
8,929,402 (GRCm38) |
missense |
|
|
|
R7358:Pkd1l1
|
UTSW |
11 |
8,945,202 (GRCm38) |
missense |
|
|
|
R7387:Pkd1l1
|
UTSW |
11 |
8,901,203 (GRCm38) |
missense |
|
|
|
R7414:Pkd1l1
|
UTSW |
11 |
8,916,267 (GRCm38) |
missense |
|
|
|
R7459:Pkd1l1
|
UTSW |
11 |
8,902,428 (GRCm38) |
missense |
|
|
|
R7478:Pkd1l1
|
UTSW |
11 |
8,929,441 (GRCm38) |
missense |
|
|
|
R7485:Pkd1l1
|
UTSW |
11 |
8,965,148 (GRCm38) |
missense |
|
|
|
R7490:Pkd1l1
|
UTSW |
11 |
8,916,265 (GRCm38) |
missense |
|
|
|
R7644:Pkd1l1
|
UTSW |
11 |
8,875,758 (GRCm38) |
missense |
|
|
|
R7647:Pkd1l1
|
UTSW |
11 |
8,947,296 (GRCm38) |
missense |
|
|
|
R7676:Pkd1l1
|
UTSW |
11 |
8,962,708 (GRCm38) |
missense |
|
|
|
R7687:Pkd1l1
|
UTSW |
11 |
8,854,390 (GRCm38) |
missense |
|
|
|
R7699:Pkd1l1
|
UTSW |
11 |
8,965,142 (GRCm38) |
missense |
|
|
|
R7922:Pkd1l1
|
UTSW |
11 |
8,909,857 (GRCm38) |
missense |
|
|
|
R7922:Pkd1l1
|
UTSW |
11 |
8,849,013 (GRCm38) |
missense |
|
|
|
R7980:Pkd1l1
|
UTSW |
11 |
8,854,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7993:Pkd1l1
|
UTSW |
11 |
8,945,262 (GRCm38) |
missense |
|
|
|
R8052:Pkd1l1
|
UTSW |
11 |
8,947,315 (GRCm38) |
missense |
|
|
|
R8125:Pkd1l1
|
UTSW |
11 |
8,947,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8420:Pkd1l1
|
UTSW |
11 |
8,870,277 (GRCm38) |
nonsense |
probably null |
|
|
R8675:Pkd1l1
|
UTSW |
11 |
8,848,916 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8683:Pkd1l1
|
UTSW |
11 |
8,871,805 (GRCm38) |
missense |
|
|
|
R8709:Pkd1l1
|
UTSW |
11 |
8,855,567 (GRCm38) |
missense |
|
|
|
R8711:Pkd1l1
|
UTSW |
11 |
8,865,550 (GRCm38) |
missense |
|
|
|
R8725:Pkd1l1
|
UTSW |
11 |
8,961,482 (GRCm38) |
missense |
|
|
|
R8733:Pkd1l1
|
UTSW |
11 |
8,933,657 (GRCm38) |
missense |
|
|
|
R8822:Pkd1l1
|
UTSW |
11 |
8,856,312 (GRCm38) |
missense |
|
|
|
R8871:Pkd1l1
|
UTSW |
11 |
8,950,503 (GRCm38) |
missense |
|
|
|
R9009:Pkd1l1
|
UTSW |
11 |
8,931,552 (GRCm38) |
missense |
|
|
|
R9099:Pkd1l1
|
UTSW |
11 |
8,972,986 (GRCm38) |
missense |
|
|
|
R9119:Pkd1l1
|
UTSW |
11 |
8,879,107 (GRCm38) |
missense |
|
|
|
R9150:Pkd1l1
|
UTSW |
11 |
8,836,256 (GRCm38) |
missense |
|
|
|
R9314:Pkd1l1
|
UTSW |
11 |
8,879,153 (GRCm38) |
missense |
|
|
|
R9341:Pkd1l1
|
UTSW |
11 |
8,961,305 (GRCm38) |
missense |
|
|
|
R9341:Pkd1l1
|
UTSW |
11 |
8,836,399 (GRCm38) |
missense |
|
|
|
R9343:Pkd1l1
|
UTSW |
11 |
8,961,305 (GRCm38) |
missense |
|
|
|
R9343:Pkd1l1
|
UTSW |
11 |
8,836,399 (GRCm38) |
missense |
|
|
|
R9392:Pkd1l1
|
UTSW |
11 |
8,844,567 (GRCm38) |
missense |
|
|
|
R9424:Pkd1l1
|
UTSW |
11 |
8,870,091 (GRCm38) |
missense |
|
|
|
R9496:Pkd1l1
|
UTSW |
11 |
8,833,773 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9504:Pkd1l1
|
UTSW |
11 |
8,865,631 (GRCm38) |
missense |
|
|
|
R9563:Pkd1l1
|
UTSW |
11 |
8,865,502 (GRCm38) |
missense |
|
|
|
R9570:Pkd1l1
|
UTSW |
11 |
8,890,697 (GRCm38) |
missense |
|
|
|
R9585:Pkd1l1
|
UTSW |
11 |
8,854,390 (GRCm38) |
missense |
|
|
|
R9618:Pkd1l1
|
UTSW |
11 |
8,961,420 (GRCm38) |
missense |
|
|
|
R9709:Pkd1l1
|
UTSW |
11 |
8,849,016 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9741:Pkd1l1
|
UTSW |
11 |
8,947,224 (GRCm38) |
missense |
|
|
|
R9801:Pkd1l1
|
UTSW |
11 |
8,958,964 (GRCm38) |
nonsense |
probably null |
|
|
X0024:Pkd1l1
|
UTSW |
11 |
8,950,413 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0063:Pkd1l1
|
UTSW |
11 |
8,929,430 (GRCm38) |
missense |
probably damaging |
0.96 |
|
X0065:Pkd1l1
|
UTSW |
11 |
8,909,921 (GRCm38) |
missense |
probably benign |
0.10 |
|
Z1176:Pkd1l1
|
UTSW |
11 |
8,826,801 (GRCm38) |
missense |
|
|
|
Z1177:Pkd1l1
|
UTSW |
11 |
8,945,208 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTTTGCATCCGAATCG -3'
(R):5'- TGGGACTGATTGGGCAATGC -3'
Sequencing Primer
(F):5'- TGCATCCGAATCGTGGTC -3'
(R):5'- GCAATGCCACCCATGTTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation