Incidental Mutation 'R8905:Patj'
| ID |
680016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Patj
|
| Ensembl Gene |
ENSMUSG00000061859 |
| Gene Name |
PATJ, crumbs cell polarity complex component |
| Synonyms |
Cipp, Inadl |
| MMRRC Submission |
068762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8905 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98284022-98607840 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98385412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 393
(H393L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041284]
[ENSMUST00000107029]
[ENSMUST00000107033]
[ENSMUST00000107034]
|
| AlphaFold |
Q63ZW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041284
AA Change: H915L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: H915L
| 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 |
probably benign
Transcript: ENSMUST00000107029
AA Change: H342L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: H342L
| 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 |
probably benign
Transcript: ENSMUST00000107033
|
| SMART Domains |
Protein: ENSMUSP00000102648
Gene: ENSMUSG00000061859
| 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 |
|
low complexity region
|
648 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
730 |
N/A |
INTRINSIC |
|
PDZ
|
751 |
834 |
8.65e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107034
AA Change: H911L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: H911L
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142103
AA Change: H393L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
AA Change: H393L
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
49 |
120 |
1.28e-12 |
SMART |
|
PDZ
|
175 |
254 |
9.5e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (77/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,553 (GRCm39) |
V236A |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,960,771 (GRCm39) |
R744S |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,455,763 (GRCm39) |
S464P |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,855,570 (GRCm39) |
V3A |
probably benign |
Het |
| AW554918 |
T |
A |
18: 25,473,206 (GRCm39) |
S134T |
probably damaging |
Het |
| Bmper |
A |
G |
9: 23,318,082 (GRCm39) |
E567G |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,074,132 (GRCm39) |
|
probably null |
Het |
| Cars1 |
A |
G |
7: 143,140,196 (GRCm39) |
Y170H |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,788,269 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
C |
T |
9: 108,718,501 (GRCm39) |
H2351Y |
probably damaging |
Het |
| Cfap210 |
A |
G |
2: 69,612,104 (GRCm39) |
S175P |
probably benign |
Het |
| Clxn |
A |
G |
16: 14,738,275 (GRCm39) |
I147V |
possibly damaging |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,102 (GRCm39) |
I282V |
probably benign |
Het |
| Dhfr |
A |
G |
13: 92,494,467 (GRCm39) |
T57A |
probably damaging |
Het |
| Dhrs7l |
T |
A |
12: 72,666,431 (GRCm39) |
D80V |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,292,534 (GRCm39) |
Q2973P |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,633,184 (GRCm39) |
C136R |
probably benign |
Het |
| Ercc3 |
T |
G |
18: 32,398,771 (GRCm39) |
D683E |
possibly damaging |
Het |
| Faxc |
A |
G |
4: 21,982,398 (GRCm39) |
Y279C |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,872,634 (GRCm39) |
M191T |
possibly damaging |
Het |
| Fcgbp |
T |
A |
7: 27,785,934 (GRCm39) |
V457E |
probably damaging |
Het |
| Fip1l1 |
A |
T |
5: 74,756,624 (GRCm39) |
T539S |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,038,052 (GRCm39) |
T189A |
possibly damaging |
Het |
| Glg1 |
T |
C |
8: 111,884,668 (GRCm39) |
D1118G |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,901,116 (GRCm39) |
D1501G |
probably benign |
Het |
| Hacd1 |
A |
G |
2: 14,049,761 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ift22 |
T |
C |
5: 136,941,745 (GRCm39) |
V159A |
probably benign |
Het |
| Igkv1-110 |
T |
A |
6: 68,248,070 (GRCm39) |
Y60N |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,637,348 (GRCm39) |
K502E |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,435,467 (GRCm39) |
Q478L |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,364,847 (GRCm39) |
F511L |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,180,401 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
A |
T |
13: 118,523,479 (GRCm39) |
S98T |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,279,643 (GRCm39) |
A209V |
probably benign |
Het |
| Nfs1 |
A |
T |
2: 155,970,503 (GRCm39) |
I270N |
probably damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,424,951 (GRCm39) |
S266P |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,960,784 (GRCm39) |
S3176P |
probably damaging |
Het |
| Or4c123 |
A |
T |
2: 89,126,801 (GRCm39) |
L271Q |
possibly damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,494 (GRCm39) |
D70G |
possibly damaging |
Het |
| P2ry12 |
T |
A |
3: 59,124,997 (GRCm39) |
Y226F |
probably damaging |
Het |
| Pabpc2 |
C |
A |
18: 39,907,704 (GRCm39) |
T323K |
probably benign |
Het |
| Pank2 |
A |
G |
2: 131,124,646 (GRCm39) |
D71G |
possibly damaging |
Het |
| Pde8b |
A |
G |
13: 95,182,993 (GRCm39) |
V255A |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,471,028 (GRCm39) |
W374R |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,361,437 (GRCm39) |
D313G |
probably damaging |
Het |
| Rnf114 |
A |
G |
2: 167,353,134 (GRCm39) |
N135S |
probably benign |
Het |
| Rnf43 |
T |
G |
11: 87,621,951 (GRCm39) |
Y351D |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,539,173 (GRCm39) |
D90V |
probably damaging |
Het |
| Sbds |
A |
G |
5: 130,277,125 (GRCm39) |
V172A |
possibly damaging |
Het |
| Scamp5 |
T |
A |
9: 57,352,669 (GRCm39) |
I167F |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,994,364 (GRCm39) |
E386G |
probably damaging |
Het |
| Sfxn1 |
T |
A |
13: 54,246,433 (GRCm39) |
V159E |
probably damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,421,495 (GRCm39) |
G531R |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,760,331 (GRCm39) |
I471F |
probably damaging |
Het |
| Slc41a3 |
T |
A |
6: 90,589,123 (GRCm39) |
M78K |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,749,084 (GRCm39) |
Y653N |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 97,053,391 (GRCm39) |
M170K |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,440,577 (GRCm39) |
I629K |
probably benign |
Het |
| Smg7 |
T |
A |
1: 152,715,817 (GRCm39) |
D1099V |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,721,895 (GRCm39) |
V1095A |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,308,890 (GRCm39) |
I763V |
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,556,929 (GRCm39) |
S30P |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,767,459 (GRCm39) |
A646T |
probably benign |
Het |
| Tardbp |
T |
C |
4: 148,705,093 (GRCm39) |
M167V |
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,842,647 (GRCm39) |
N276S |
probably damaging |
Het |
| Ttpa |
T |
A |
4: 20,028,435 (GRCm39) |
S162T |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,935,572 (GRCm39) |
Y333H |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,695 (GRCm39) |
Y812F |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,009,144 (GRCm39) |
T463A |
probably benign |
Het |
| Zbtb26 |
T |
A |
2: 37,326,927 (GRCm39) |
K36N |
probably benign |
Het |
| Zfc3h1 |
A |
T |
10: 115,259,383 (GRCm39) |
T1652S |
probably benign |
Het |
| Zfp472 |
G |
A |
17: 33,197,455 (GRCm39) |
C510Y |
possibly damaging |
Het |
| Zfp518a |
C |
A |
19: 40,902,780 (GRCm39) |
T903K |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,598 (GRCm39) |
T529A |
probably benign |
Het |
| Zfp930 |
A |
G |
8: 69,681,351 (GRCm39) |
T349A |
possibly damaging |
Het |
| Zmiz2 |
T |
G |
11: 6,346,840 (GRCm39) |
Y182D |
probably damaging |
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 |
|
R1818:Patj
|
UTSW |
4 |
98,511,885 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
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'- GCTTGGGAAATGCATGAGTTCC -3'
(R):5'- AGAAGCCCATTCAGTTCTGCC -3'
Sequencing Primer
(F):5'- GAAATGCATGAGTTCCTGAGTCCTC -3'
(R):5'- CAGTTCTGCCTTATGAATGGAAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation