Incidental Mutation 'IGL02425:Strip1'
ID |
292853 |
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 # |
IGL02425
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
107519848-107539010 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107521962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 739
(I739V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
|
AlphaFold |
Q8C079 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064759
AA Change: I739V
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000068587 Gene: ENSMUSG00000014601 AA Change: I739V
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: ENSMUST00000200049
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
8430423G03Rik |
A |
G |
5: 148,887,472 (GRCm39) |
|
probably benign |
Het |
Adam4 |
C |
T |
12: 81,468,102 (GRCm39) |
R173H |
probably benign |
Het |
Akap12 |
A |
G |
10: 4,306,034 (GRCm39) |
E948G |
possibly damaging |
Het |
Akr1c12 |
T |
C |
13: 4,323,749 (GRCm39) |
Y184C |
probably damaging |
Het |
Avil |
T |
C |
10: 126,854,316 (GRCm39) |
V761A |
probably benign |
Het |
Bahd1 |
T |
A |
2: 118,749,645 (GRCm39) |
F480L |
probably benign |
Het |
Bicral |
T |
C |
17: 47,119,380 (GRCm39) |
T714A |
probably benign |
Het |
Cert1 |
T |
C |
13: 96,746,390 (GRCm39) |
I263T |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2d34 |
C |
T |
15: 82,502,480 (GRCm39) |
V219I |
probably benign |
Het |
Dsn1 |
A |
G |
2: 156,838,667 (GRCm39) |
V316A |
probably damaging |
Het |
Errfi1 |
T |
A |
4: 150,950,813 (GRCm39) |
F80L |
probably benign |
Het |
Fam221b |
A |
G |
4: 43,660,642 (GRCm39) |
|
probably null |
Het |
Fgd6 |
G |
A |
10: 93,910,064 (GRCm39) |
G790R |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,680,302 (GRCm39) |
|
probably benign |
Het |
Gldn |
T |
A |
9: 54,246,005 (GRCm39) |
Y519N |
probably damaging |
Het |
Il18r1 |
T |
C |
1: 40,530,381 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
A |
G |
6: 146,292,819 (GRCm39) |
V380A |
probably damaging |
Het |
Kcnab1 |
T |
C |
3: 65,209,600 (GRCm39) |
Y154H |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,118,480 (GRCm39) |
V2564A |
probably benign |
Het |
Lca5 |
T |
C |
9: 83,281,774 (GRCm39) |
T337A |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,407,756 (GRCm39) |
|
probably null |
Het |
Moxd1 |
A |
G |
10: 24,155,334 (GRCm39) |
N245S |
probably benign |
Het |
Napepld |
T |
C |
5: 21,888,440 (GRCm39) |
E3G |
probably benign |
Het |
Nr1d2 |
T |
C |
14: 18,222,011 (GRCm38) |
T87A |
probably benign |
Het |
Nudt4 |
T |
A |
10: 95,385,245 (GRCm39) |
T149S |
probably benign |
Het |
Rad18 |
A |
T |
6: 112,597,859 (GRCm39) |
D219E |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,760,560 (GRCm39) |
I1508V |
probably damaging |
Het |
Setx |
G |
A |
2: 29,038,420 (GRCm39) |
S1635N |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,839,919 (GRCm39) |
V121A |
probably benign |
Het |
Snapc4 |
T |
C |
2: 26,258,212 (GRCm39) |
D736G |
probably damaging |
Het |
Spink5 |
T |
C |
18: 44,123,811 (GRCm39) |
|
probably null |
Het |
Tmem161a |
T |
C |
8: 70,629,577 (GRCm39) |
|
probably null |
Het |
Top1mt |
T |
C |
15: 75,547,970 (GRCm39) |
T39A |
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,890,175 (GRCm39) |
M926T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,587,624 (GRCm39) |
K19744* |
probably null |
Het |
Vmn2r26 |
A |
G |
6: 124,038,777 (GRCm39) |
E784G |
probably damaging |
Het |
Wnk1 |
A |
G |
6: 119,940,415 (GRCm39) |
F774S |
probably damaging |
Het |
Zfp317 |
T |
A |
9: 19,554,909 (GRCm39) |
Y101* |
probably null |
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 |
IGL01862:Strip1
|
APN |
3 |
107,529,198 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |