Incidental Mutation 'IGL00950:Strip1'
| ID |
27129 |
| 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: 0.966)
|
| Stock # |
IGL00950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107519848-107539010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107528761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 390
(S390C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
|
| AlphaFold |
Q8C079 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064759
AA Change: S390C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: S390C
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,770,660 (GRCm39) |
V923A |
possibly damaging |
Het |
| Als2 |
G |
A |
1: 59,254,541 (GRCm39) |
A272V |
probably benign |
Het |
| Aoc1l1 |
A |
C |
6: 48,955,065 (GRCm39) |
N635T |
possibly damaging |
Het |
| Chrne |
C |
T |
11: 70,509,983 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
C |
T |
7: 15,933,751 (GRCm39) |
R947H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,253,482 (GRCm39) |
M1796L |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,387,726 (GRCm39) |
T820I |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,378 (GRCm39) |
K942E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,200,743 (GRCm39) |
G1318E |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,144 (GRCm39) |
V248A |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,064 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,626 (GRCm39) |
V442A |
probably damaging |
Het |
| H2-Q4 |
A |
C |
17: 35,601,834 (GRCm39) |
D232A |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,048,785 (GRCm39) |
I2423V |
probably benign |
Het |
| Itk |
T |
A |
11: 46,258,723 (GRCm39) |
I60F |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,272,295 (GRCm39) |
C25* |
probably null |
Het |
| Katnip |
T |
A |
7: 125,442,393 (GRCm39) |
D767E |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,116,241 (GRCm39) |
P980H |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,163,954 (GRCm39) |
R367L |
unknown |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,059 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
C |
A |
9: 107,944,594 (GRCm39) |
|
probably null |
Het |
| Sh3bgrl2 |
T |
A |
9: 83,459,543 (GRCm39) |
F34I |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,232,424 (GRCm39) |
E171G |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,313,152 (GRCm39) |
D544E |
probably benign |
Het |
| Slc36a1 |
T |
C |
11: 55,116,954 (GRCm39) |
C328R |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,362,680 (GRCm39) |
|
probably benign |
Het |
| Sox13 |
A |
G |
1: 133,314,844 (GRCm39) |
V272A |
probably benign |
Het |
| Sppl2b |
T |
G |
10: 80,699,928 (GRCm39) |
L37R |
probably damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,684,346 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,255 (GRCm39) |
E1008G |
possibly damaging |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,911 (GRCm39) |
H192Q |
possibly damaging |
Het |
| Vsir |
C |
T |
10: 60,200,063 (GRCm39) |
Q154* |
probably null |
Het |
| Xrn2 |
A |
T |
2: 146,870,066 (GRCm39) |
R252* |
probably null |
Het |
|
| Other mutations in Strip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01862:Strip1
|
APN |
3 |
107,529,198 (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 |
2013-04-17 |
Incidental Mutation