Incidental Mutation 'IGL01484:Strip1'
ID |
88869 |
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 # |
IGL01484
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
107519848-107539010 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107520575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 825
(V825A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
|
AlphaFold |
Q8C079 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064759
AA Change: V825A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068587 Gene: ENSMUSG00000014601 AA Change: V825A
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
A |
G |
11: 5,579,006 (GRCm39) |
H90R |
possibly damaging |
Het |
Arsj |
A |
G |
3: 126,158,685 (GRCm39) |
D88G |
probably damaging |
Het |
Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
Dagla |
A |
C |
19: 10,225,884 (GRCm39) |
L760R |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,021,897 (GRCm39) |
E1202G |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,487,164 (GRCm39) |
H100R |
probably damaging |
Het |
Hhip |
T |
C |
8: 80,723,412 (GRCm39) |
H414R |
probably damaging |
Het |
Hk2 |
G |
A |
6: 82,713,711 (GRCm39) |
T457M |
probably damaging |
Het |
Iapp |
A |
G |
6: 142,249,165 (GRCm39) |
T73A |
possibly damaging |
Het |
Ifit1 |
A |
G |
19: 34,626,243 (GRCm39) |
N460D |
probably damaging |
Het |
Itpa |
T |
C |
2: 130,514,019 (GRCm39) |
F77L |
probably benign |
Het |
Knop1 |
T |
C |
7: 118,452,032 (GRCm39) |
D229G |
probably damaging |
Het |
Lrrc32 |
T |
C |
7: 98,143,442 (GRCm39) |
I5T |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,734,629 (GRCm39) |
V622M |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,571,400 (GRCm39) |
E866G |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,222 (GRCm39) |
W197R |
probably benign |
Het |
Palmd |
G |
A |
3: 116,746,794 (GRCm39) |
|
probably benign |
Het |
Pcbp4 |
A |
G |
9: 106,337,848 (GRCm39) |
|
probably null |
Het |
Pigf |
T |
C |
17: 87,316,308 (GRCm39) |
I157V |
probably benign |
Het |
Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
Prl7a2 |
T |
A |
13: 27,843,191 (GRCm39) |
D204V |
probably damaging |
Het |
Rfc3 |
A |
T |
5: 151,566,401 (GRCm39) |
D349E |
probably benign |
Het |
Sarm1 |
A |
T |
11: 78,381,839 (GRCm39) |
C215S |
probably damaging |
Het |
Serpine1 |
T |
C |
5: 137,092,326 (GRCm39) |
|
probably benign |
Het |
Stx12 |
A |
G |
4: 132,611,673 (GRCm39) |
S2P |
probably damaging |
Het |
Sycp1 |
A |
C |
3: 102,823,183 (GRCm39) |
S311R |
probably benign |
Het |
Tfpi |
A |
T |
2: 84,275,169 (GRCm39) |
C139* |
probably null |
Het |
Tmc5 |
T |
A |
7: 118,256,010 (GRCm39) |
I695N |
probably damaging |
Het |
Tmem169 |
T |
C |
1: 72,340,263 (GRCm39) |
V231A |
probably damaging |
Het |
Ttbk2 |
T |
G |
2: 120,570,314 (GRCm39) |
S1211R |
possibly damaging |
Het |
Ubr3 |
C |
T |
2: 69,851,888 (GRCm39) |
R1855* |
probably null |
Het |
Urb1 |
A |
T |
16: 90,574,448 (GRCm39) |
S878T |
probably benign |
Het |
Vmn1r174 |
T |
A |
7: 23,453,749 (GRCm39) |
Y138* |
probably null |
Het |
Zfp282 |
A |
G |
6: 47,867,054 (GRCm39) |
N214D |
possibly 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 |
|
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 |
2013-11-18 |