Incidental Mutation 'R1818:Patj'
| ID |
204578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Patj
|
| Ensembl Gene |
ENSMUSG00000061859 |
| Gene Name |
PATJ, crumbs cell polarity complex component |
| Synonyms |
Cipp, Inadl |
| MMRRC Submission |
039846-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1818 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
98284022-98607840 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98511885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 144
(V144M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030290]
[ENSMUST00000041284]
[ENSMUST00000102792]
[ENSMUST00000107029]
[ENSMUST00000107034]
|
| AlphaFold |
Q63ZW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030290
AA Change: V144M
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030290
Gene: ENSMUSG00000061859
AA Change: V144M
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
31 |
106 |
6.12e-19 |
SMART |
|
low complexity region
|
134 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
206 |
N/A |
INTRINSIC |
|
PDZ
|
258 |
333 |
4.36e-24 |
SMART |
|
PDZ
|
355 |
428 |
2.49e-19 |
SMART |
|
PDZ
|
496 |
573 |
1.73e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041284
AA Change: V1366M
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: V1366M
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
8 |
68 |
6.53e-9 |
SMART |
|
PDZ
|
143 |
221 |
1.78e-20 |
SMART |
|
PDZ
|
256 |
328 |
1.15e-23 |
SMART |
|
PDZ
|
374 |
453 |
3.15e-21 |
SMART |
|
coiled coil region
|
486 |
513 |
N/A |
INTRINSIC |
|
PDZ
|
570 |
641 |
1.28e-12 |
SMART |
|
PDZ
|
696 |
775 |
9.5e-16 |
SMART |
|
low complexity region
|
980 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1062 |
N/A |
INTRINSIC |
|
PDZ
|
1083 |
1166 |
8.65e-19 |
SMART |
|
PDZ
|
1253 |
1328 |
6.12e-19 |
SMART |
|
low complexity region
|
1356 |
1366 |
N/A |
INTRINSIC |
|
low complexity region
|
1410 |
1428 |
N/A |
INTRINSIC |
|
PDZ
|
1480 |
1555 |
4.36e-24 |
SMART |
|
PDZ
|
1577 |
1650 |
2.49e-19 |
SMART |
|
PDZ
|
1718 |
1795 |
2.13e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102792
AA Change: V144M
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099854
Gene: ENSMUSG00000061859
AA Change: V144M
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
31 |
106 |
6.12e-19 |
SMART |
|
low complexity region
|
134 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
206 |
N/A |
INTRINSIC |
|
PDZ
|
258 |
333 |
4.36e-24 |
SMART |
|
PDZ
|
355 |
428 |
2.49e-19 |
SMART |
|
PDZ
|
496 |
573 |
2.13e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107029
AA Change: V793M
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: V793M
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
1 |
68 |
1e-9 |
SMART |
|
PDZ
|
123 |
202 |
4.7e-18 |
SMART |
|
low complexity region
|
407 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
489 |
N/A |
INTRINSIC |
|
PDZ
|
510 |
593 |
4.3e-21 |
SMART |
|
PDZ
|
680 |
755 |
2.9e-21 |
SMART |
|
low complexity region
|
783 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
855 |
N/A |
INTRINSIC |
|
PDZ
|
907 |
982 |
2.2e-26 |
SMART |
|
PDZ
|
1004 |
1077 |
1.2e-21 |
SMART |
|
PDZ
|
1145 |
1222 |
1e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107034
AA Change: V1362M
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: V1362M
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
8 |
68 |
6.53e-9 |
SMART |
|
PDZ
|
143 |
221 |
1.78e-20 |
SMART |
|
PDZ
|
256 |
328 |
1.15e-23 |
SMART |
|
PDZ
|
374 |
453 |
3.15e-21 |
SMART |
|
coiled coil region
|
486 |
513 |
N/A |
INTRINSIC |
|
PDZ
|
566 |
637 |
1.28e-12 |
SMART |
|
PDZ
|
692 |
771 |
9.5e-16 |
SMART |
|
low complexity region
|
976 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1058 |
N/A |
INTRINSIC |
|
PDZ
|
1079 |
1162 |
8.65e-19 |
SMART |
|
PDZ
|
1249 |
1324 |
6.12e-19 |
SMART |
|
low complexity region
|
1352 |
1362 |
N/A |
INTRINSIC |
|
low complexity region
|
1382 |
1400 |
N/A |
INTRINSIC |
|
PDZ
|
1452 |
1499 |
7.78e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.5%
- 20x: 90.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a multivalent PDZ domain protein, which is expressed exclusively in brain and kidney. This protein selectively interacts with inward rectifier K+ (Kir) family members, N-methyl-D-aspartate receptor subunits, neurexins and neuroligins, as well as cell surface molecules enriched in synaptic membranes. Thus, this protein may serve as a scaffold that brings structurally diverse but functionally connected proteins into close proximity at the synapse. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,075,857 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
A |
12: 113,454,876 (GRCm39) |
N564K |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,864,461 (GRCm39) |
Y731C |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,331,725 (GRCm39) |
Y190H |
probably benign |
Het |
| Ankmy1 |
T |
A |
1: 92,814,553 (GRCm39) |
D318V |
probably benign |
Het |
| Ankrd33b |
G |
A |
15: 31,367,267 (GRCm39) |
A91V |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,608,212 (GRCm39) |
N561S |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,056,834 (GRCm39) |
N1739S |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,064 (GRCm39) |
T236A |
possibly damaging |
Het |
| Birc6 |
G |
A |
17: 74,956,844 (GRCm39) |
A3593T |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,210,111 (GRCm39) |
F778L |
possibly damaging |
Het |
| Capn2 |
T |
A |
1: 182,300,162 (GRCm39) |
K609N |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Card11 |
A |
T |
5: 140,871,315 (GRCm39) |
D729E |
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,529 (GRCm39) |
Y30C |
probably damaging |
Het |
| Cd209a |
G |
A |
8: 3,795,576 (GRCm39) |
T106I |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,242,805 (GRCm39) |
L283P |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,708,228 (GRCm39) |
T77A |
probably damaging |
Het |
| Clec4e |
T |
A |
6: 123,262,452 (GRCm39) |
D155V |
possibly damaging |
Het |
| Col25a1 |
G |
A |
3: 130,379,386 (GRCm39) |
|
probably null |
Het |
| Cyp2j11 |
A |
T |
4: 96,185,976 (GRCm39) |
V403D |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,673 (GRCm39) |
R296C |
possibly damaging |
Het |
| Ddx59 |
A |
G |
1: 136,360,245 (GRCm39) |
I420V |
probably damaging |
Het |
| Denr |
T |
A |
5: 124,055,283 (GRCm39) |
D49E |
probably benign |
Het |
| Dnaaf3 |
A |
T |
7: 4,526,568 (GRCm39) |
|
probably null |
Het |
| Dnaaf3 |
G |
T |
7: 4,526,569 (GRCm39) |
L503M |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,598,307 (GRCm39) |
D1409E |
probably benign |
Het |
| Dnai4 |
A |
G |
4: 102,929,854 (GRCm39) |
V56A |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,612,333 (GRCm39) |
L652Q |
probably benign |
Het |
| Ehd4 |
C |
T |
2: 119,932,885 (GRCm39) |
W180* |
probably null |
Het |
| Ephb2 |
A |
G |
4: 136,382,647 (GRCm39) |
S984P |
probably benign |
Het |
| Eva1a |
T |
C |
6: 82,048,125 (GRCm39) |
M1T |
probably null |
Het |
| Fam90a1a |
C |
G |
8: 22,453,787 (GRCm39) |
P381A |
possibly damaging |
Het |
| Fam90a1a |
C |
A |
8: 22,453,788 (GRCm39) |
P381Q |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,457,447 (GRCm39) |
Y2382H |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,072,711 (GRCm39) |
L612Q |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,806 (GRCm39) |
N419K |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,712,951 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
T |
A |
1: 166,465,788 (GRCm39) |
H267L |
probably damaging |
Het |
| Golga4 |
T |
G |
9: 118,402,055 (GRCm39) |
V91G |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,134,018 (GRCm39) |
|
probably null |
Het |
| Ice2 |
A |
G |
9: 69,339,383 (GRCm39) |
S967G |
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,570,687 (GRCm39) |
I210V |
probably benign |
Het |
| Impdh2 |
T |
G |
9: 108,440,411 (GRCm39) |
|
probably null |
Het |
| Inmt |
C |
A |
6: 55,150,404 (GRCm39) |
V78F |
possibly damaging |
Het |
| Inpp5e |
T |
C |
2: 26,287,886 (GRCm39) |
S637G |
probably benign |
Het |
| Kansl1 |
T |
C |
11: 104,233,283 (GRCm39) |
H748R |
possibly damaging |
Het |
| Kif28 |
T |
C |
1: 179,533,319 (GRCm39) |
K541E |
possibly damaging |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Kifc2 |
T |
C |
15: 76,550,281 (GRCm39) |
V480A |
probably damaging |
Het |
| Lrrc74a |
T |
C |
12: 86,784,484 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ly75 |
T |
G |
2: 60,142,121 (GRCm39) |
T1330P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,270,210 (GRCm39) |
V6647A |
probably damaging |
Het |
| Mgat1 |
T |
C |
11: 49,152,111 (GRCm39) |
I198T |
possibly damaging |
Het |
| Morc3 |
A |
G |
16: 93,652,398 (GRCm39) |
Y367C |
probably damaging |
Het |
| Mtfr1 |
A |
G |
3: 19,269,837 (GRCm39) |
T162A |
probably damaging |
Het |
| Myrip |
C |
T |
9: 120,217,228 (GRCm39) |
S49L |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,835,113 (GRCm39) |
N1397K |
possibly damaging |
Het |
| Or5h26 |
T |
C |
16: 58,988,243 (GRCm39) |
K88E |
probably benign |
Het |
| Or6x1 |
T |
C |
9: 40,098,558 (GRCm39) |
V49A |
probably benign |
Het |
| Or8b36 |
T |
C |
9: 37,937,803 (GRCm39) |
S234P |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,902 (GRCm39) |
I276M |
possibly damaging |
Het |
| Pabpc2 |
G |
T |
18: 39,907,163 (GRCm39) |
V143L |
probably damaging |
Het |
| Pals2 |
T |
G |
6: 50,140,411 (GRCm39) |
F144V |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
| Pde1c |
T |
A |
6: 56,103,877 (GRCm39) |
K651* |
probably null |
Het |
| Pde4c |
A |
G |
8: 71,179,638 (GRCm39) |
H63R |
probably benign |
Het |
| Pdha2 |
T |
A |
3: 140,916,960 (GRCm39) |
K183* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,038 (GRCm39) |
C1504S |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,625,574 (GRCm39) |
|
probably null |
Het |
| Poteg |
G |
A |
8: 27,940,195 (GRCm39) |
W121* |
probably null |
Het |
| Prf1 |
C |
A |
10: 61,138,762 (GRCm39) |
T240N |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,067,068 (GRCm39) |
Y1883H |
probably damaging |
Het |
| Puf60 |
T |
C |
15: 75,943,323 (GRCm39) |
T322A |
possibly damaging |
Het |
| Rev3l |
A |
G |
10: 39,704,420 (GRCm39) |
I281M |
probably benign |
Het |
| Rufy1 |
T |
C |
11: 50,305,399 (GRCm39) |
I305V |
probably benign |
Het |
| Shisa9 |
A |
C |
16: 12,085,426 (GRCm39) |
Q329P |
probably damaging |
Het |
| Siglech |
G |
A |
7: 55,418,332 (GRCm39) |
R100Q |
probably damaging |
Het |
| Slc13a5 |
T |
A |
11: 72,144,169 (GRCm39) |
Y303F |
probably benign |
Het |
| Snx6 |
C |
T |
12: 54,830,259 (GRCm39) |
V67I |
possibly damaging |
Het |
| Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,892,888 (GRCm39) |
Y310C |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,557,643 (GRCm39) |
L575Q |
probably damaging |
Het |
| Usp16 |
C |
T |
16: 87,276,020 (GRCm39) |
R452* |
probably null |
Het |
| Utrn |
A |
G |
10: 12,585,708 (GRCm39) |
|
probably null |
Het |
| Vps13b |
G |
A |
15: 35,877,723 (GRCm39) |
G2899E |
probably benign |
Het |
| Wipi2 |
T |
A |
5: 142,643,963 (GRCm39) |
L115Q |
probably damaging |
Het |
| Zbtb7c |
A |
C |
18: 76,270,596 (GRCm39) |
E228A |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,353,487 (GRCm39) |
T101A |
probably benign |
Het |
| Zfp593 |
A |
T |
4: 133,972,394 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfp948 |
G |
A |
17: 21,805,069 (GRCm39) |
V20M |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,945,293 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Patj |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Patj
|
APN |
4 |
98,353,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00095:Patj
|
APN |
4 |
98,423,799 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00517:Patj
|
APN |
4 |
98,329,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00802:Patj
|
APN |
4 |
98,312,643 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01064:Patj
|
APN |
4 |
98,385,210 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01110:Patj
|
APN |
4 |
98,301,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01407:Patj
|
APN |
4 |
98,301,287 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01821:Patj
|
APN |
4 |
98,344,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Patj
|
APN |
4 |
98,480,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02494:Patj
|
APN |
4 |
98,592,224 (GRCm39) |
splice site |
probably benign |
|
|
IGL02803:Patj
|
APN |
4 |
98,314,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02931:Patj
|
APN |
4 |
98,299,410 (GRCm39) |
splice site |
probably benign |
|
|
IGL03017:Patj
|
APN |
4 |
98,353,264 (GRCm39) |
splice site |
probably benign |
|
|
IGL03115:Patj
|
APN |
4 |
98,332,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Patj
|
APN |
4 |
98,353,377 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03377:Patj
|
APN |
4 |
98,353,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4186:Patj
|
UTSW |
4 |
98,526,999 (GRCm39) |
missense |
probably benign |
0.17 |
|
PIT4531001:Patj
|
UTSW |
4 |
98,329,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0136:Patj
|
UTSW |
4 |
98,555,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Patj
|
UTSW |
4 |
98,385,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0376:Patj
|
UTSW |
4 |
98,457,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Patj
|
UTSW |
4 |
98,562,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Patj
|
UTSW |
4 |
98,423,744 (GRCm39) |
splice site |
probably null |
|
|
R0466:Patj
|
UTSW |
4 |
98,576,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Patj
|
UTSW |
4 |
98,457,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Patj
|
UTSW |
4 |
98,569,472 (GRCm39) |
splice site |
probably benign |
|
|
R0657:Patj
|
UTSW |
4 |
98,555,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1281:Patj
|
UTSW |
4 |
98,304,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1393:Patj
|
UTSW |
4 |
98,312,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1480:Patj
|
UTSW |
4 |
98,357,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Patj
|
UTSW |
4 |
98,301,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Patj
|
UTSW |
4 |
98,320,017 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1729:Patj
|
UTSW |
4 |
98,320,017 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1797:Patj
|
UTSW |
4 |
98,575,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Patj
|
UTSW |
4 |
98,379,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1880:Patj
|
UTSW |
4 |
98,385,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2009:Patj
|
UTSW |
4 |
98,344,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Patj
|
UTSW |
4 |
98,325,560 (GRCm39) |
unclassified |
probably benign |
|
|
R2120:Patj
|
UTSW |
4 |
98,344,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2180:Patj
|
UTSW |
4 |
98,411,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2655:Patj
|
UTSW |
4 |
98,325,687 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3156:Patj
|
UTSW |
4 |
98,562,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Patj
|
UTSW |
4 |
98,357,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Patj
|
UTSW |
4 |
98,569,456 (GRCm39) |
nonsense |
probably null |
|
|
R3913:Patj
|
UTSW |
4 |
98,457,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3917:Patj
|
UTSW |
4 |
98,480,245 (GRCm39) |
nonsense |
probably null |
|
|
R3918:Patj
|
UTSW |
4 |
98,344,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Patj
|
UTSW |
4 |
98,565,558 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4355:Patj
|
UTSW |
4 |
98,538,691 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4471:Patj
|
UTSW |
4 |
98,423,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Patj
|
UTSW |
4 |
98,293,807 (GRCm39) |
nonsense |
probably null |
|
|
R4877:Patj
|
UTSW |
4 |
98,457,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4945:Patj
|
UTSW |
4 |
98,383,301 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5274:Patj
|
UTSW |
4 |
98,407,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5343:Patj
|
UTSW |
4 |
98,564,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Patj
|
UTSW |
4 |
98,342,633 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5688:Patj
|
UTSW |
4 |
98,409,047 (GRCm39) |
nonsense |
probably null |
|
|
R5880:Patj
|
UTSW |
4 |
98,299,382 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5972:Patj
|
UTSW |
4 |
98,457,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6149:Patj
|
UTSW |
4 |
98,312,562 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6192:Patj
|
UTSW |
4 |
98,344,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Patj
|
UTSW |
4 |
98,357,804 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6350:Patj
|
UTSW |
4 |
98,293,855 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6363:Patj
|
UTSW |
4 |
98,320,097 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6434:Patj
|
UTSW |
4 |
98,379,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6496:Patj
|
UTSW |
4 |
98,304,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Patj
|
UTSW |
4 |
98,314,287 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7039:Patj
|
UTSW |
4 |
98,457,315 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7040:Patj
|
UTSW |
4 |
98,329,317 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7052:Patj
|
UTSW |
4 |
98,565,497 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7066:Patj
|
UTSW |
4 |
98,301,434 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7236:Patj
|
UTSW |
4 |
98,299,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Patj
|
UTSW |
4 |
98,480,170 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7260:Patj
|
UTSW |
4 |
98,304,970 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7412:Patj
|
UTSW |
4 |
98,299,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7493:Patj
|
UTSW |
4 |
98,383,298 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7570:Patj
|
UTSW |
4 |
98,312,737 (GRCm39) |
splice site |
probably null |
|
|
R7571:Patj
|
UTSW |
4 |
98,457,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Patj
|
UTSW |
4 |
98,435,224 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7658:Patj
|
UTSW |
4 |
98,576,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Patj
|
UTSW |
4 |
98,385,187 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7669:Patj
|
UTSW |
4 |
98,407,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Patj
|
UTSW |
4 |
98,435,220 (GRCm39) |
start codon destroyed |
probably benign |
0.05 |
|
R7870:Patj
|
UTSW |
4 |
98,312,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Patj
|
UTSW |
4 |
98,499,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7948:Patj
|
UTSW |
4 |
98,312,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8050:Patj
|
UTSW |
4 |
98,427,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8183:Patj
|
UTSW |
4 |
98,562,466 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8239:Patj
|
UTSW |
4 |
98,570,308 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8483:Patj
|
UTSW |
4 |
98,312,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Patj
|
UTSW |
4 |
98,325,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8746:Patj
|
UTSW |
4 |
98,394,067 (GRCm39) |
intron |
probably benign |
|
|
R8844:Patj
|
UTSW |
4 |
98,480,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Patj
|
UTSW |
4 |
98,385,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Patj
|
UTSW |
4 |
98,385,565 (GRCm39) |
missense |
|
|
|
R8959:Patj
|
UTSW |
4 |
98,480,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9083:Patj
|
UTSW |
4 |
98,401,871 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9173:Patj
|
UTSW |
4 |
98,526,958 (GRCm39) |
missense |
probably benign |
|
|
R9206:Patj
|
UTSW |
4 |
98,427,310 (GRCm39) |
missense |
unknown |
|
|
R9208:Patj
|
UTSW |
4 |
98,427,310 (GRCm39) |
missense |
unknown |
|
|
R9347:Patj
|
UTSW |
4 |
98,576,484 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9560:Patj
|
UTSW |
4 |
98,570,289 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9609:Patj
|
UTSW |
4 |
98,576,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9617:Patj
|
UTSW |
4 |
98,393,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9658:Patj
|
UTSW |
4 |
98,353,377 (GRCm39) |
missense |
probably null |
1.00 |
|
R9756:Patj
|
UTSW |
4 |
98,565,535 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Patj
|
UTSW |
4 |
98,564,555 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Patj
|
UTSW |
4 |
98,499,367 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Patj
|
UTSW |
4 |
98,385,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTTCTCTTACAAAGGACC -3'
(R):5'- CCCTGTGCTTTGAGAACTTGTC -3'
Sequencing Primer
(F):5'- TTCTCTTACAAAGGACCGTGGCAG -3'
(R):5'- AAGTTCTTCCTGTCTCAGAGTTCAAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation