Incidental Mutation 'IGL01862:Strip1'
| ID |
178369 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Strip1
|
| Ensembl Gene |
ENSMUSG00000014601 |
| Gene Name |
striatin interacting protein 1 |
| Synonyms |
Fam40a, 6330569M22Rik, 6530401O14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL01862
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107519848-107539010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107529198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 353
(R353L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
|
| AlphaFold |
Q8C079 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064759
AA Change: R353L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: R353L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
N1221
|
65 |
363 |
7.87e-138 |
SMART |
|
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
|
DUF3402
|
460 |
817 |
6.87e-202 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196416
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198424
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, shortened anterior-posterior axis, cinching of tissue at the embryonic/extraembryonic boundary and abnormal mesoderm development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,837,997 (GRCm39) |
S1085* |
probably null |
Het |
| Akap9 |
T |
G |
5: 4,001,705 (GRCm39) |
S94A |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,115,856 (GRCm39) |
N3425K |
probably damaging |
Het |
| Anapc7 |
T |
A |
5: 122,578,182 (GRCm39) |
I389N |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
| Cacna1h |
C |
T |
17: 25,602,457 (GRCm39) |
G1524R |
probably damaging |
Het |
| Cacng4 |
T |
C |
11: 107,685,196 (GRCm39) |
Y32C |
probably damaging |
Het |
| Cep120 |
A |
C |
18: 53,847,839 (GRCm39) |
S673R |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,135,986 (GRCm39) |
E19G |
possibly damaging |
Het |
| Cpxm2 |
C |
T |
7: 131,661,540 (GRCm39) |
V416I |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,874,424 (GRCm39) |
T427A |
probably benign |
Het |
| Ecm1 |
A |
T |
3: 95,641,586 (GRCm39) |
D549E |
probably benign |
Het |
| Efemp1 |
T |
A |
11: 28,871,428 (GRCm39) |
N342K |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,993,526 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
C |
T |
14: 70,825,130 (GRCm39) |
R402H |
probably benign |
Het |
| Galnt13 |
T |
C |
2: 54,747,926 (GRCm39) |
V269A |
probably damaging |
Het |
| Gm6465 |
T |
G |
5: 11,899,020 (GRCm39) |
L171R |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,994,703 (GRCm39) |
V521A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,103,914 (GRCm39) |
V1087E |
possibly damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,057 (GRCm39) |
V484D |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,190,360 (GRCm39) |
V953E |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,685,480 (GRCm39) |
D15G |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,461,368 (GRCm39) |
N4K |
possibly damaging |
Het |
| Lrch4 |
A |
T |
5: 137,635,271 (GRCm39) |
I254F |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,129,516 (GRCm39) |
V1623D |
probably damaging |
Het |
| Mapt |
T |
A |
11: 104,180,828 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
A |
T |
8: 85,639,875 (GRCm39) |
|
probably null |
Het |
| Mcc |
G |
T |
18: 44,892,363 (GRCm39) |
Q84K |
probably benign |
Het |
| Mgat4f |
G |
A |
1: 134,318,349 (GRCm39) |
V374I |
probably benign |
Het |
| Mtfr2 |
G |
A |
10: 20,224,149 (GRCm39) |
V28M |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,520 (GRCm39) |
Y585* |
probably null |
Het |
| Napsa |
T |
C |
7: 44,231,917 (GRCm39) |
V202A |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,001,080 (GRCm39) |
K199R |
probably null |
Het |
| Ntpcr |
C |
T |
8: 126,462,837 (GRCm39) |
A18V |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,426 (GRCm39) |
M69K |
probably damaging |
Het |
| Or2g25 |
G |
T |
17: 37,970,368 (GRCm39) |
N285K |
probably damaging |
Het |
| Or56b35 |
T |
A |
7: 104,963,439 (GRCm39) |
I76N |
probably damaging |
Het |
| Or5g9 |
G |
T |
2: 85,552,472 (GRCm39) |
C241F |
probably damaging |
Het |
| Or8b9 |
A |
G |
9: 37,766,477 (GRCm39) |
D121G |
probably damaging |
Het |
| Os9 |
A |
G |
10: 126,935,573 (GRCm39) |
V299A |
probably benign |
Het |
| Pcdhb7 |
T |
C |
18: 37,476,915 (GRCm39) |
S684P |
possibly damaging |
Het |
| Phf19 |
A |
C |
2: 34,787,067 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
G |
A |
8: 110,357,908 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,429,134 (GRCm39) |
I2422T |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,258 (GRCm39) |
V64E |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,762,038 (GRCm39) |
C459* |
probably null |
Het |
| Ptk6 |
T |
C |
2: 180,841,433 (GRCm39) |
S159G |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,617,650 (GRCm39) |
I329T |
possibly damaging |
Het |
| Scfd1 |
A |
G |
12: 51,492,494 (GRCm39) |
Y601C |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,110,148 (GRCm39) |
S1753P |
probably damaging |
Het |
| Slc8a1 |
A |
C |
17: 81,749,630 (GRCm39) |
|
probably null |
Het |
| Spg7 |
T |
A |
8: 123,803,669 (GRCm39) |
L233Q |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,823 (GRCm39) |
N544D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,204,469 (GRCm39) |
T4794A |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,266,095 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,984 (GRCm39) |
C3S |
probably benign |
Het |
| Yju2b |
G |
T |
8: 84,987,163 (GRCm39) |
|
probably benign |
Het |
| Zdhhc5 |
C |
T |
2: 84,520,836 (GRCm39) |
R447H |
probably benign |
Het |
| Zfp202 |
A |
G |
9: 40,123,124 (GRCm39) |
I629V |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,023,441 (GRCm39) |
C990S |
probably damaging |
Het |
|
| Other mutations in Strip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Strip1
|
APN |
3 |
107,528,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01150:Strip1
|
APN |
3 |
107,534,047 (GRCm39) |
splice site |
probably null |
|
|
IGL01484:Strip1
|
APN |
3 |
107,520,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02425:Strip1
|
APN |
3 |
107,521,962 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02537:Strip1
|
APN |
3 |
107,524,210 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02948:Strip1
|
APN |
3 |
107,520,582 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03179:Strip1
|
APN |
3 |
107,527,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4472001:Strip1
|
UTSW |
3 |
107,535,486 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0197:Strip1
|
UTSW |
3 |
107,521,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0526:Strip1
|
UTSW |
3 |
107,527,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0543:Strip1
|
UTSW |
3 |
107,534,091 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0883:Strip1
|
UTSW |
3 |
107,521,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1070:Strip1
|
UTSW |
3 |
107,534,724 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1384:Strip1
|
UTSW |
3 |
107,534,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Strip1
|
UTSW |
3 |
107,534,724 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1467:Strip1
|
UTSW |
3 |
107,534,724 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1772:Strip1
|
UTSW |
3 |
107,534,047 (GRCm39) |
splice site |
probably null |
|
|
R2358:Strip1
|
UTSW |
3 |
107,523,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2484:Strip1
|
UTSW |
3 |
107,535,537 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2931:Strip1
|
UTSW |
3 |
107,532,975 (GRCm39) |
splice site |
probably null |
|
|
R3427:Strip1
|
UTSW |
3 |
107,524,138 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4584:Strip1
|
UTSW |
3 |
107,531,819 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4780:Strip1
|
UTSW |
3 |
107,534,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4853:Strip1
|
UTSW |
3 |
107,524,232 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5623:Strip1
|
UTSW |
3 |
107,534,142 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5801:Strip1
|
UTSW |
3 |
107,528,757 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6345:Strip1
|
UTSW |
3 |
107,535,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Strip1
|
UTSW |
3 |
107,526,252 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6869:Strip1
|
UTSW |
3 |
107,520,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Strip1
|
UTSW |
3 |
107,534,111 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7192:Strip1
|
UTSW |
3 |
107,522,651 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7387:Strip1
|
UTSW |
3 |
107,533,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7631:Strip1
|
UTSW |
3 |
107,524,247 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8032:Strip1
|
UTSW |
3 |
107,525,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8095:Strip1
|
UTSW |
3 |
107,525,455 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8302:Strip1
|
UTSW |
3 |
107,533,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Strip1
|
UTSW |
3 |
107,521,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Strip1
|
UTSW |
3 |
107,521,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8882:Strip1
|
UTSW |
3 |
107,534,341 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9184:Strip1
|
UTSW |
3 |
107,521,979 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9185:Strip1
|
UTSW |
3 |
107,535,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Strip1
|
UTSW |
3 |
107,523,085 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation