Incidental Mutation 'R5554:Patj'
| ID |
435274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Patj
|
| Ensembl Gene |
ENSMUSG00000061859 |
| Gene Name |
PATJ, crumbs cell polarity complex component |
| Synonyms |
Cipp, Inadl |
| MMRRC Submission |
043111-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5554 (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 98342633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 576
(S576T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041284]
[ENSMUST00000107029]
[ENSMUST00000107030]
[ENSMUST00000107033]
[ENSMUST00000107034]
|
| AlphaFold |
Q63ZW7 |
| PDB Structure |
Overall structure of Patj/Pals1/Mals complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041284
|
| SMART Domains |
Protein: ENSMUSP00000049176
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
| 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: ENSMUST00000107030
AA Change: S576T
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102645
Gene: ENSMUSG00000061859
AA Change: S576T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102649
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 |
|
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 benign
Transcript: ENSMUST00000142103
|
| SMART Domains |
Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
49 |
120 |
1.28e-12 |
SMART |
|
PDZ
|
175 |
254 |
9.5e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (73/75) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
C |
A |
11: 101,304,807 (GRCm39) |
R227L |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,195,182 (GRCm39) |
Q533R |
possibly damaging |
Het |
| Adgb |
C |
T |
10: 10,216,217 (GRCm39) |
R1524H |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,792,622 (GRCm39) |
N739K |
possibly damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Anxa10 |
G |
A |
8: 62,514,080 (GRCm39) |
P249L |
possibly damaging |
Het |
| Banp |
G |
A |
8: 122,718,334 (GRCm39) |
E183K |
probably damaging |
Het |
| BC051665 |
C |
G |
13: 60,932,435 (GRCm39) |
L83F |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,643,295 (GRCm39) |
F385I |
possibly damaging |
Het |
| Chchd4 |
A |
T |
6: 91,441,999 (GRCm39) |
*140R |
probably null |
Het |
| Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
| Dlx2 |
G |
A |
2: 71,375,805 (GRCm39) |
R173C |
possibly damaging |
Het |
| Dmbt1 |
C |
A |
7: 130,701,030 (GRCm39) |
Y1069* |
probably null |
Het |
| Dop1a |
T |
A |
9: 86,403,710 (GRCm39) |
F1637I |
probably damaging |
Het |
| Dusp18 |
T |
C |
11: 3,847,202 (GRCm39) |
I64T |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,256,491 (GRCm39) |
|
probably benign |
Het |
| Fiz1 |
T |
C |
7: 5,015,849 (GRCm39) |
H47R |
probably damaging |
Het |
| Fndc3b |
G |
T |
3: 27,697,162 (GRCm39) |
P17T |
possibly damaging |
Het |
| Foxa1 |
T |
A |
12: 57,589,077 (GRCm39) |
Q381L |
probably benign |
Het |
| Gda |
A |
G |
19: 21,405,837 (GRCm39) |
|
probably null |
Het |
| Gm10044 |
T |
C |
14: 7,771,181 (GRCm38) |
|
noncoding transcript |
Het |
| Gm12258 |
T |
A |
11: 58,749,294 (GRCm39) |
S156R |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,566,131 (GRCm39) |
R117G |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,480,064 (GRCm39) |
V48I |
probably damaging |
Het |
| Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
| Inka2 |
T |
A |
3: 105,623,930 (GRCm39) |
S82R |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,129,010 (GRCm39) |
C549* |
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,499,608 (GRCm39) |
G511C |
probably damaging |
Het |
| Knstrn |
T |
C |
2: 118,664,444 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,382,768 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Maco1 |
T |
C |
4: 134,555,445 (GRCm39) |
I343V |
probably benign |
Het |
| Micos10 |
T |
C |
4: 138,833,218 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,457 (GRCm39) |
Y1169H |
probably benign |
Het |
| Nbr1 |
C |
T |
11: 101,455,633 (GRCm39) |
T129I |
probably benign |
Het |
| Or52e8 |
A |
C |
7: 104,625,189 (GRCm39) |
M1R |
probably null |
Het |
| Or5k15 |
A |
T |
16: 58,710,169 (GRCm39) |
M138K |
possibly damaging |
Het |
| Or7g25 |
T |
C |
9: 19,160,039 (GRCm39) |
I219V |
probably benign |
Het |
| Oxct1 |
T |
A |
15: 4,120,677 (GRCm39) |
F254I |
probably benign |
Het |
| Pdxdc1 |
A |
T |
16: 13,690,363 (GRCm39) |
C202S |
probably benign |
Het |
| Pet100 |
A |
T |
8: 3,672,381 (GRCm39) |
I19F |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,385,059 (GRCm39) |
Y655H |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,151,476 (GRCm39) |
S3807P |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,454,649 (GRCm39) |
T8A |
probably damaging |
Het |
| Ptpn3 |
G |
T |
4: 57,240,843 (GRCm39) |
N257K |
probably damaging |
Het |
| R3hdm1 |
C |
A |
1: 128,164,409 (GRCm39) |
Q1108K |
probably benign |
Het |
| Rimbp2 |
T |
C |
5: 128,857,406 (GRCm39) |
D815G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,523,196 (GRCm39) |
F66L |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,484,296 (GRCm39) |
|
probably null |
Het |
| Serpinb8 |
A |
G |
1: 107,526,705 (GRCm39) |
T82A |
probably benign |
Het |
| Serpini2 |
G |
A |
3: 75,175,295 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
G |
T |
10: 78,631,816 (GRCm39) |
G214V |
probably benign |
Het |
| Slc5a6 |
C |
A |
5: 31,195,444 (GRCm39) |
A425S |
probably damaging |
Het |
| Smo |
C |
A |
6: 29,736,123 (GRCm39) |
N38K |
possibly damaging |
Het |
| Smtn |
A |
T |
11: 3,470,811 (GRCm39) |
C909* |
probably null |
Het |
| Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,941,645 (GRCm39) |
V287E |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,005,358 (GRCm39) |
D388G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,642,652 (GRCm39) |
F13294L |
probably damaging |
Het |
| Ube2j1 |
T |
G |
4: 33,040,745 (GRCm39) |
F84V |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,370,287 (GRCm39) |
Q477R |
probably damaging |
Het |
| Utf1 |
T |
C |
7: 139,523,859 (GRCm39) |
S25P |
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,413 (GRCm39) |
H53L |
probably damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,339,860 (GRCm39) |
N38K |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,699,775 (GRCm39) |
D756N |
probably damaging |
Het |
| Vwa1 |
G |
T |
4: 155,857,695 (GRCm39) |
D34E |
probably damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,301,774 (GRCm39) |
L2070R |
probably damaging |
Het |
| Zfp984 |
A |
G |
4: 147,840,362 (GRCm39) |
V163A |
probably benign |
Het |
| Zp3r |
A |
T |
1: 130,511,208 (GRCm39) |
M325K |
probably benign |
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 |
|
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'- CTAGAAGTCGCACACACTTGC -3'
(R):5'- CGTGCATTGCAGATAAGACATTG -3'
Sequencing Primer
(F):5'- GCTTGTCACTAGCAGCCATG -3'
(R):5'- TCTTACATCTTCAGGAGCCAGGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation