Incidental Mutation 'IGL01150:Strip1'
ID |
50806 |
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 # |
IGL01150
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
107519848-107539010 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 107534047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
[ENSMUST00000064759]
[ENSMUST00000064759]
[ENSMUST00000064759]
[ENSMUST00000106703]
|
AlphaFold |
Q8C079 |
Predicted Effect |
probably null
Transcript: ENSMUST00000064759
|
SMART Domains |
Protein: ENSMUSP00000068587 Gene: ENSMUSG00000014601
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 |
probably null
Transcript: ENSMUST00000064759
|
SMART Domains |
Protein: ENSMUSP00000068587 Gene: ENSMUSG00000014601
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 |
probably null
Transcript: ENSMUST00000064759
|
SMART Domains |
Protein: ENSMUSP00000068587 Gene: ENSMUSG00000014601
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 |
probably null
Transcript: ENSMUST00000064759
|
SMART Domains |
Protein: ENSMUSP00000068587 Gene: ENSMUSG00000014601
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 |
probably benign
Transcript: ENSMUST00000106703
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196416
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,752,550 (GRCm39) |
D507G |
possibly damaging |
Het |
Actl6a |
A |
G |
3: 32,766,313 (GRCm39) |
I60V |
probably benign |
Het |
Adra2c |
T |
C |
5: 35,438,485 (GRCm39) |
F419S |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,918,618 (GRCm39) |
Y105C |
probably damaging |
Het |
Arid4b |
C |
T |
13: 14,369,959 (GRCm39) |
Q1152* |
probably null |
Het |
Arsj |
A |
G |
3: 126,232,433 (GRCm39) |
D393G |
probably benign |
Het |
Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
Cacna2d3 |
C |
T |
14: 28,905,598 (GRCm39) |
V390I |
possibly damaging |
Het |
Ccdc25 |
T |
A |
14: 66,097,651 (GRCm39) |
M195K |
possibly damaging |
Het |
Cdhr2 |
T |
A |
13: 54,878,931 (GRCm39) |
S979T |
probably benign |
Het |
Cog2 |
T |
C |
8: 125,269,630 (GRCm39) |
F390S |
possibly damaging |
Het |
Dennd5b |
A |
G |
6: 148,969,583 (GRCm39) |
V290A |
probably benign |
Het |
Ebf1 |
T |
C |
11: 44,759,927 (GRCm39) |
L188P |
probably damaging |
Het |
Galt |
T |
C |
4: 41,757,786 (GRCm39) |
|
probably benign |
Het |
Gm12830 |
C |
T |
4: 114,702,261 (GRCm39) |
T141I |
unknown |
Het |
Herc2 |
T |
A |
7: 55,830,881 (GRCm39) |
W2965R |
probably damaging |
Het |
Hrg |
A |
G |
16: 22,777,909 (GRCm39) |
|
probably null |
Het |
Ighv8-5 |
T |
C |
12: 115,031,194 (GRCm39) |
Y115C |
probably damaging |
Het |
Igkv12-89 |
A |
G |
6: 68,812,127 (GRCm39) |
V14A |
probably benign |
Het |
Nav2 |
A |
C |
7: 49,102,269 (GRCm39) |
T295P |
probably benign |
Het |
Niban1 |
T |
C |
1: 151,593,472 (GRCm39) |
V719A |
probably benign |
Het |
Nrg1 |
G |
A |
8: 32,407,903 (GRCm39) |
T110I |
probably damaging |
Het |
Or4c31 |
T |
C |
2: 88,292,419 (GRCm39) |
V264A |
possibly damaging |
Het |
Or51h1 |
A |
C |
7: 102,308,699 (GRCm39) |
K224Q |
probably benign |
Het |
Or7g29 |
A |
T |
9: 19,286,535 (GRCm39) |
I214N |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,726,926 (GRCm39) |
|
probably benign |
Het |
Polg2 |
T |
C |
11: 106,668,258 (GRCm39) |
|
probably null |
Het |
Ptges |
G |
T |
2: 30,782,720 (GRCm39) |
R111S |
probably damaging |
Het |
Rbbp4 |
T |
C |
4: 129,216,668 (GRCm39) |
|
probably benign |
Het |
Rundc3a |
T |
C |
11: 102,284,602 (GRCm39) |
V34A |
probably benign |
Het |
Scn3a |
C |
A |
2: 65,327,709 (GRCm39) |
|
probably null |
Het |
Sec14l3 |
T |
C |
11: 4,026,238 (GRCm39) |
|
probably benign |
Het |
Svep1 |
T |
A |
4: 58,070,302 (GRCm39) |
I2495F |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,393,154 (GRCm39) |
S71P |
probably damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem161b |
C |
T |
13: 84,440,526 (GRCm39) |
R133* |
probably null |
Het |
Tnnc2 |
A |
T |
2: 164,619,753 (GRCm39) |
I71N |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,875,845 (GRCm39) |
N1554S |
probably benign |
Het |
Wfdc3 |
A |
T |
2: 164,574,123 (GRCm39) |
|
probably benign |
Het |
Zfp648 |
A |
T |
1: 154,081,110 (GRCm39) |
H423L |
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 |
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 |
2013-06-21 |