Incidental Mutation 'IGL00334:Mprip'
| ID |
4589 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mprip
|
| Ensembl Gene |
ENSMUSG00000005417 |
| Gene Name |
myosin phosphatase Rho interacting protein |
| Synonyms |
p116 Rho interacting protein, p116Rip, Gm34094, RIP3, Rhoip3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.669)
|
| Stock # |
IGL00334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59552973-59671686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59639417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 403
(D403E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066330]
[ENSMUST00000072031]
[ENSMUST00000108751]
[ENSMUST00000116371]
[ENSMUST00000133861]
|
| AlphaFold |
P97434 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066330
AA Change: D403E
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: D403E
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
44 |
152 |
3.33e-10 |
SMART |
|
low complexity region
|
179 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
Blast:PH
|
249 |
320 |
1e-10 |
BLAST |
|
PH
|
351 |
448 |
3.76e-18 |
SMART |
|
low complexity region
|
492 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
555 |
N/A |
INTRINSIC |
|
coiled coil region
|
636 |
671 |
N/A |
INTRINSIC |
|
Blast:PAC
|
806 |
848 |
2e-10 |
BLAST |
|
low complexity region
|
1005 |
1023 |
N/A |
INTRINSIC |
|
low complexity region
|
1047 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1200 |
N/A |
INTRINSIC |
|
coiled coil region
|
1267 |
1300 |
N/A |
INTRINSIC |
|
coiled coil region
|
1617 |
1642 |
N/A |
INTRINSIC |
|
coiled coil region
|
1729 |
1779 |
N/A |
INTRINSIC |
|
coiled coil region
|
1899 |
1936 |
N/A |
INTRINSIC |
|
coiled coil region
|
1960 |
2110 |
N/A |
INTRINSIC |
|
coiled coil region
|
2132 |
2206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072031
AA Change: D439E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000071914
Gene: ENSMUSG00000005417
AA Change: D439E
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
44 |
152 |
3.33e-10 |
SMART |
|
low complexity region
|
179 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
Blast:PH
|
254 |
320 |
1e-10 |
BLAST |
|
PH
|
387 |
484 |
3.76e-18 |
SMART |
|
low complexity region
|
528 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
591 |
N/A |
INTRINSIC |
|
coiled coil region
|
672 |
707 |
N/A |
INTRINSIC |
|
coiled coil region
|
728 |
878 |
N/A |
INTRINSIC |
|
coiled coil region
|
900 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108751
AA Change: D401E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104382
Gene: ENSMUSG00000005417
AA Change: D401E
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
44 |
152 |
3.33e-10 |
SMART |
|
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
|
Blast:PH
|
216 |
282 |
1e-10 |
BLAST |
|
PH
|
349 |
446 |
3.76e-18 |
SMART |
|
low complexity region
|
490 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
553 |
N/A |
INTRINSIC |
|
coiled coil region
|
634 |
669 |
N/A |
INTRINSIC |
|
coiled coil region
|
690 |
840 |
N/A |
INTRINSIC |
|
coiled coil region
|
862 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116371
AA Change: D439E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112072
Gene: ENSMUSG00000005417
AA Change: D439E
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
44 |
152 |
3.33e-10 |
SMART |
|
low complexity region
|
179 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
Blast:PH
|
254 |
320 |
1e-10 |
BLAST |
|
PH
|
387 |
484 |
3.76e-18 |
SMART |
|
low complexity region
|
528 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
591 |
N/A |
INTRINSIC |
|
coiled coil region
|
672 |
707 |
N/A |
INTRINSIC |
|
coiled coil region
|
728 |
878 |
N/A |
INTRINSIC |
|
coiled coil region
|
900 |
974 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132620
AA Change: D249E
|
| SMART Domains |
Protein: ENSMUSP00000119422
Gene: ENSMUSG00000005417
AA Change: D249E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
Blast:PH
|
101 |
167 |
9e-11 |
BLAST |
|
PH
|
198 |
295 |
3.76e-18 |
SMART |
|
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
402 |
N/A |
INTRINSIC |
|
coiled coil region
|
482 |
517 |
N/A |
INTRINSIC |
|
coiled coil region
|
538 |
688 |
N/A |
INTRINSIC |
|
coiled coil region
|
710 |
784 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133861
AA Change: D425E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119562
Gene: ENSMUSG00000005417
AA Change: D425E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
PH
|
373 |
470 |
3.76e-18 |
SMART |
|
low complexity region
|
514 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
577 |
N/A |
INTRINSIC |
|
coiled coil region
|
658 |
693 |
N/A |
INTRINSIC |
|
coiled coil region
|
714 |
864 |
N/A |
INTRINSIC |
|
coiled coil region
|
886 |
960 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153531
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsb |
T |
G |
13: 94,075,787 (GRCm39) |
H423Q |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,400 (GRCm39) |
L620I |
possibly damaging |
Het |
| Ces1f |
T |
C |
8: 93,994,620 (GRCm39) |
T264A |
probably benign |
Het |
| Clcn6 |
C |
A |
4: 148,102,359 (GRCm39) |
|
probably null |
Het |
| Cyb5r3 |
C |
A |
15: 83,044,605 (GRCm39) |
A138S |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,834 (GRCm39) |
N197Y |
probably damaging |
Het |
| Dctn2 |
A |
G |
10: 127,113,559 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,566 (GRCm39) |
A1197T |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,595,488 (GRCm39) |
D436G |
probably damaging |
Het |
| Drd4 |
A |
G |
7: 140,872,096 (GRCm39) |
N49S |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,205,373 (GRCm39) |
V521D |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,800 (GRCm39) |
S714P |
probably damaging |
Het |
| Glis3 |
A |
G |
19: 28,517,664 (GRCm39) |
I178T |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,806,021 (GRCm39) |
C138S |
possibly damaging |
Het |
| H1f8 |
T |
A |
6: 115,924,588 (GRCm39) |
|
probably benign |
Het |
| Hdx |
T |
A |
X: 110,492,578 (GRCm39) |
I623F |
probably benign |
Het |
| Huwe1 |
T |
G |
X: 150,668,623 (GRCm39) |
L843V |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,447,604 (GRCm39) |
Y86H |
probably damaging |
Het |
| Irf7 |
A |
T |
7: 140,844,553 (GRCm39) |
S157T |
probably benign |
Het |
| Jmjd4 |
T |
A |
11: 59,346,140 (GRCm39) |
M331K |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,926 (GRCm39) |
D112E |
possibly damaging |
Het |
| Mamdc2 |
A |
C |
19: 23,356,138 (GRCm39) |
Y103* |
probably null |
Het |
| Map2k3 |
T |
C |
11: 60,834,041 (GRCm39) |
V77A |
possibly damaging |
Het |
| Mideas |
G |
A |
12: 84,219,629 (GRCm39) |
R442* |
probably null |
Het |
| Mutyh |
T |
A |
4: 116,676,516 (GRCm39) |
V496D |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,321,042 (GRCm39) |
V2051A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,262 (GRCm39) |
L2575P |
probably damaging |
Het |
| Or10j5 |
T |
G |
1: 172,785,158 (GRCm39) |
S265R |
possibly damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,311 (GRCm39) |
K173E |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,277 (GRCm39) |
I66N |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,780,098 (GRCm39) |
Y89H |
probably benign |
Het |
| Poglut3 |
T |
A |
9: 53,309,330 (GRCm39) |
|
probably benign |
Het |
| Poglut3 |
C |
A |
9: 53,309,328 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,034 (GRCm39) |
Q594* |
probably null |
Het |
| Ptpro |
T |
G |
6: 137,371,907 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
G |
10: 84,615,917 (GRCm39) |
K28E |
possibly damaging |
Het |
| Shox2 |
T |
C |
3: 66,888,774 (GRCm39) |
E39G |
possibly damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,449,930 (GRCm39) |
D122V |
probably benign |
Het |
| Smr3a |
A |
C |
5: 88,155,919 (GRCm39) |
|
probably benign |
Het |
| Spmip8 |
G |
A |
8: 96,039,676 (GRCm39) |
R31H |
probably damaging |
Het |
| Taf4 |
G |
T |
2: 179,618,418 (GRCm39) |
L8M |
unknown |
Het |
| Tbkbp1 |
T |
A |
11: 97,028,474 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
G |
T |
5: 123,253,230 (GRCm39) |
E210D |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,253,229 (GRCm39) |
|
probably null |
Het |
| Trim21 |
C |
T |
7: 102,208,805 (GRCm39) |
V305M |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,859,439 (GRCm39) |
L353Q |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,572 (GRCm39) |
N274K |
probably benign |
Het |
|
| Other mutations in Mprip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Mprip
|
APN |
11 |
59,643,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00905:Mprip
|
APN |
11 |
59,662,994 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL00928:Mprip
|
APN |
11 |
59,635,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01161:Mprip
|
APN |
11 |
59,622,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01991:Mprip
|
APN |
11 |
59,645,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02491:Mprip
|
APN |
11 |
59,660,857 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03030:Mprip
|
APN |
11 |
59,631,941 (GRCm39) |
splice site |
probably null |
|
|
IGL03056:Mprip
|
APN |
11 |
59,662,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03293:Mprip
|
APN |
11 |
59,586,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Mprip
|
UTSW |
11 |
59,657,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0097:Mprip
|
UTSW |
11 |
59,649,317 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0097:Mprip
|
UTSW |
11 |
59,649,317 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0147:Mprip
|
UTSW |
11 |
59,627,899 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0319:Mprip
|
UTSW |
11 |
59,587,864 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Mprip
|
UTSW |
11 |
59,650,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Mprip
|
UTSW |
11 |
59,631,943 (GRCm39) |
splice site |
probably benign |
|
|
R0627:Mprip
|
UTSW |
11 |
59,660,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0864:Mprip
|
UTSW |
11 |
59,649,587 (GRCm39) |
missense |
probably benign |
|
|
R1218:Mprip
|
UTSW |
11 |
59,634,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Mprip
|
UTSW |
11 |
59,650,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Mprip
|
UTSW |
11 |
59,650,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Mprip
|
UTSW |
11 |
59,643,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1698:Mprip
|
UTSW |
11 |
59,651,084 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1802:Mprip
|
UTSW |
11 |
59,645,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Mprip
|
UTSW |
11 |
59,657,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1862:Mprip
|
UTSW |
11 |
59,649,047 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2094:Mprip
|
UTSW |
11 |
59,640,334 (GRCm39) |
splice site |
probably benign |
|
|
R2107:Mprip
|
UTSW |
11 |
59,660,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Mprip
|
UTSW |
11 |
59,660,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Mprip
|
UTSW |
11 |
59,640,334 (GRCm39) |
splice site |
probably benign |
|
|
R3003:Mprip
|
UTSW |
11 |
59,618,381 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3115:Mprip
|
UTSW |
11 |
59,656,229 (GRCm39) |
splice site |
probably null |
|
|
R3941:Mprip
|
UTSW |
11 |
59,622,328 (GRCm39) |
splice site |
probably benign |
|
|
R4347:Mprip
|
UTSW |
11 |
59,650,279 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4603:Mprip
|
UTSW |
11 |
59,622,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Mprip
|
UTSW |
11 |
59,648,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5011:Mprip
|
UTSW |
11 |
59,650,721 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5338:Mprip
|
UTSW |
11 |
59,651,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Mprip
|
UTSW |
11 |
59,651,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5569:Mprip
|
UTSW |
11 |
59,651,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Mprip
|
UTSW |
11 |
59,649,293 (GRCm39) |
missense |
probably benign |
|
|
R5615:Mprip
|
UTSW |
11 |
59,649,313 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5846:Mprip
|
UTSW |
11 |
59,649,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5970:Mprip
|
UTSW |
11 |
59,648,547 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6054:Mprip
|
UTSW |
11 |
59,649,251 (GRCm39) |
missense |
probably benign |
|
|
R6452:Mprip
|
UTSW |
11 |
59,643,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6457:Mprip
|
UTSW |
11 |
59,649,815 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6544:Mprip
|
UTSW |
11 |
59,648,552 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6750:Mprip
|
UTSW |
11 |
59,586,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Mprip
|
UTSW |
11 |
59,650,554 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6851:Mprip
|
UTSW |
11 |
59,649,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6867:Mprip
|
UTSW |
11 |
59,640,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7002:Mprip
|
UTSW |
11 |
59,652,016 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7023:Mprip
|
UTSW |
11 |
59,628,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7764:Mprip
|
UTSW |
11 |
59,655,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7765:Mprip
|
UTSW |
11 |
59,649,047 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7828:Mprip
|
UTSW |
11 |
59,627,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Mprip
|
UTSW |
11 |
59,643,756 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7911:Mprip
|
UTSW |
11 |
59,651,681 (GRCm39) |
missense |
|
|
|
R7979:Mprip
|
UTSW |
11 |
59,657,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Mprip
|
UTSW |
11 |
59,650,340 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8481:Mprip
|
UTSW |
11 |
59,648,982 (GRCm39) |
nonsense |
probably null |
|
|
R8717:Mprip
|
UTSW |
11 |
59,650,526 (GRCm39) |
missense |
probably benign |
|
|
R8810:Mprip
|
UTSW |
11 |
59,587,851 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8981:Mprip
|
UTSW |
11 |
59,622,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Mprip
|
UTSW |
11 |
59,650,901 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9245:Mprip
|
UTSW |
11 |
59,628,403 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9748:Mprip
|
UTSW |
11 |
59,656,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mprip
|
UTSW |
11 |
59,650,310 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Mprip
|
UTSW |
11 |
59,628,230 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1177:Mprip
|
UTSW |
11 |
59,648,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation