Incidental Mutation 'R2120:Patj'
| ID |
231354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Patj
|
| Ensembl Gene |
ENSMUSG00000061859 |
| Gene Name |
PATJ, crumbs cell polarity complex component |
| Synonyms |
Cipp, Inadl |
| MMRRC Submission |
040124-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2120 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98284022-98607840 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98344462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 591
(D591E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041284]
[ENSMUST00000107029]
[ENSMUST00000107030]
[ENSMUST00000107033]
[ENSMUST00000107034]
|
| AlphaFold |
Q63ZW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041284
AA Change: D595E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: D595E
| 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: D22E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: D22E
| 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: ENSMUST00000107030
|
| SMART Domains |
Protein: ENSMUSP00000102645
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 |
|
| 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: D591E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: D591E
| 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 |
unknown
Transcript: ENSMUST00000142103
AA Change: D73E
|
| SMART Domains |
Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
AA Change: D73E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
49 |
120 |
1.28e-12 |
SMART |
|
PDZ
|
175 |
254 |
9.5e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (86/86) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,259,013 (GRCm39) |
|
probably benign |
Het |
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Actrt2 |
C |
T |
4: 154,751,551 (GRCm39) |
R195Q |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
| Ankrd65 |
A |
G |
4: 155,876,530 (GRCm39) |
T239A |
probably benign |
Het |
| Ano7 |
G |
T |
1: 93,329,855 (GRCm39) |
|
probably benign |
Het |
| Apc |
A |
T |
18: 34,409,654 (GRCm39) |
E198V |
probably damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,495,457 (GRCm39) |
V583E |
probably damaging |
Het |
| Bicral |
C |
T |
17: 47,135,741 (GRCm39) |
A490T |
probably benign |
Het |
| C1rl |
C |
T |
6: 124,485,672 (GRCm39) |
P348S |
probably damaging |
Het |
| Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Cx3cr1 |
T |
A |
9: 119,880,749 (GRCm39) |
T218S |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| E2f4 |
A |
G |
8: 106,026,973 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,949 (GRCm39) |
N179D |
probably benign |
Het |
| Epc2 |
C |
T |
2: 49,437,621 (GRCm39) |
|
probably benign |
Het |
| Ets2 |
G |
T |
16: 95,519,977 (GRCm39) |
R401L |
probably benign |
Het |
| Fgd4 |
C |
T |
16: 16,243,692 (GRCm39) |
C614Y |
probably benign |
Het |
| Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,086 (GRCm39) |
T1460S |
probably benign |
Het |
| H2-M1 |
T |
G |
17: 36,980,929 (GRCm39) |
T336P |
possibly damaging |
Het |
| Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
| Ipo7 |
G |
T |
7: 109,648,838 (GRCm39) |
D704Y |
probably damaging |
Het |
| Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
| Jarid2 |
G |
T |
13: 45,059,812 (GRCm39) |
M681I |
probably benign |
Het |
| Kif4-ps |
T |
C |
12: 101,113,956 (GRCm39) |
L695P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,410 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
T |
C |
11: 99,212,023 (GRCm39) |
T205A |
probably benign |
Het |
| Lif |
T |
C |
11: 4,219,051 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,819,653 (GRCm39) |
|
probably benign |
Het |
| Med16 |
A |
T |
10: 79,738,916 (GRCm39) |
M290K |
possibly damaging |
Het |
| Mov10l1 |
C |
A |
15: 88,891,830 (GRCm39) |
Q562K |
probably benign |
Het |
| Msantd2 |
C |
T |
9: 37,434,227 (GRCm39) |
R357W |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,534,108 (GRCm39) |
F449L |
probably damaging |
Het |
| Myt1l |
A |
T |
12: 29,833,618 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,403 (GRCm39) |
I178T |
probably damaging |
Het |
| Or4k36 |
A |
G |
2: 111,145,844 (GRCm39) |
T7A |
probably benign |
Het |
| Or6d13 |
A |
T |
6: 116,517,416 (GRCm39) |
M1L |
probably null |
Het |
| Or8k22 |
G |
A |
2: 86,163,689 (GRCm39) |
R4C |
probably benign |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,265,332 (GRCm39) |
P757L |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,603,584 (GRCm39) |
T662A |
probably benign |
Het |
| Podn |
C |
T |
4: 107,880,558 (GRCm39) |
A31T |
probably damaging |
Het |
| Prss37 |
G |
A |
6: 40,492,294 (GRCm39) |
R186* |
probably null |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
| Rab3gap2 |
A |
T |
1: 184,993,564 (GRCm39) |
D782V |
possibly damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
| Reln |
G |
A |
5: 22,174,083 (GRCm39) |
H2007Y |
probably damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,865,582 (GRCm39) |
S582P |
probably damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Sars1 |
T |
C |
3: 108,341,472 (GRCm39) |
I114V |
probably benign |
Het |
| Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,039,358 (GRCm39) |
|
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,533,617 (GRCm39) |
E224G |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 96,993,808 (GRCm39) |
R645H |
possibly damaging |
Het |
| Srgn |
T |
A |
10: 62,343,413 (GRCm39) |
|
probably benign |
Het |
| Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tada3 |
T |
C |
6: 113,347,976 (GRCm39) |
I263V |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,470 (GRCm39) |
R160S |
possibly damaging |
Het |
| Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
| Trp53bp2 |
A |
G |
1: 182,269,204 (GRCm39) |
M223V |
probably benign |
Het |
| Ttc21b |
C |
T |
2: 66,057,098 (GRCm39) |
V625I |
probably benign |
Het |
| Txnrd1 |
T |
A |
10: 82,723,067 (GRCm39) |
C421S |
possibly damaging |
Het |
| Unc45a |
T |
C |
7: 79,989,846 (GRCm39) |
T8A |
probably benign |
Het |
| Usp6nl |
T |
A |
2: 6,445,748 (GRCm39) |
V552E |
probably damaging |
Het |
| Vmn2r115 |
T |
G |
17: 23,578,297 (GRCm39) |
L590R |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,665 (GRCm39) |
H126L |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,826,616 (GRCm39) |
D1419G |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,391,641 (GRCm39) |
T776A |
probably benign |
Het |
| Zfp580 |
T |
C |
7: 5,056,008 (GRCm39) |
Y123H |
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 |
|
|
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'- CCTGTGCTGGGAATCTTAGG -3'
(R):5'- CTTCTGTATTACCCAGTAAGCTGTTG -3'
Sequencing Primer
(F):5'- AATGCGGTTTCAGTGGCTAAATGAC -3'
(R):5'- ACCCAGTAAGCTGTTGGTATTTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation