Incidental Mutation 'IGL03179:Strip1'
| ID |
412132 |
| 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 # |
IGL03179
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107519848-107539010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107527571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 436
(F436I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
|
| AlphaFold |
Q8C079 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064759
AA Change: F436I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: F436I
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
A |
14: 78,745,180 (GRCm39) |
H1736L |
probably benign |
Het |
| App |
A |
G |
16: 84,879,735 (GRCm39) |
C133R |
probably damaging |
Het |
| Atxn7l2 |
G |
T |
3: 108,110,963 (GRCm39) |
C524* |
probably null |
Het |
| Cckbr |
T |
C |
7: 105,084,130 (GRCm39) |
V288A |
probably benign |
Het |
| Ccr1l1 |
T |
C |
9: 123,777,787 (GRCm39) |
Y220C |
probably damaging |
Het |
| Cdc42se2 |
A |
T |
11: 54,614,417 (GRCm39) |
F47I |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,403,950 (GRCm39) |
I2317N |
possibly damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,502 (GRCm39) |
S347P |
probably damaging |
Het |
| Clcn5 |
T |
A |
X: 7,029,565 (GRCm39) |
|
probably null |
Het |
| D6Wsu163e |
A |
G |
6: 126,927,074 (GRCm39) |
D187G |
probably damaging |
Het |
| Dnajc13 |
T |
A |
9: 104,044,634 (GRCm39) |
I1852F |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,832,777 (GRCm39) |
G861D |
probably damaging |
Het |
| Fcnb |
A |
G |
2: 27,966,646 (GRCm39) |
S296P |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,073 (GRCm39) |
R233K |
probably benign |
Het |
| Gm21985 |
G |
A |
2: 112,188,900 (GRCm39) |
V1078I |
possibly damaging |
Het |
| Gpc3 |
A |
T |
X: 51,486,090 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,280,044 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,584,781 (GRCm39) |
E370G |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,163,148 (GRCm39) |
I326F |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,066,653 (GRCm39) |
L5906Q |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,903,888 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,381,938 (GRCm39) |
N17S |
possibly damaging |
Het |
| Or51f2 |
T |
C |
7: 102,527,279 (GRCm39) |
|
probably benign |
Het |
| Or6s1 |
T |
C |
14: 51,308,467 (GRCm39) |
I128V |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,811,763 (GRCm39) |
Y358C |
possibly damaging |
Het |
| Pex10 |
A |
C |
4: 155,152,354 (GRCm39) |
I61L |
probably benign |
Het |
| Phax |
T |
C |
18: 56,713,364 (GRCm39) |
F248L |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,987,397 (GRCm39) |
D366E |
probably damaging |
Het |
| Pnpo |
A |
G |
11: 96,830,085 (GRCm39) |
Y205H |
possibly damaging |
Het |
| Pparg |
T |
A |
6: 115,416,833 (GRCm39) |
W9R |
probably damaging |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,796,434 (GRCm39) |
G89S |
possibly damaging |
Het |
| Prex1 |
C |
T |
2: 166,427,114 (GRCm39) |
S867N |
probably benign |
Het |
| Pyroxd2 |
T |
A |
19: 42,736,001 (GRCm39) |
N59I |
possibly damaging |
Het |
| Rnf135 |
T |
A |
11: 80,084,837 (GRCm39) |
S203R |
possibly damaging |
Het |
| Sall1 |
T |
A |
8: 89,758,289 (GRCm39) |
N605I |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Slc25a14 |
T |
C |
X: 47,726,317 (GRCm39) |
S152P |
probably benign |
Het |
| Tgfa |
T |
C |
6: 86,248,403 (GRCm39) |
L135P |
probably benign |
Het |
| Tgif1 |
T |
C |
17: 71,151,942 (GRCm39) |
Q170R |
possibly damaging |
Het |
| Tmc2 |
G |
A |
2: 130,071,107 (GRCm39) |
E279K |
probably damaging |
Het |
| Tnks |
G |
T |
8: 35,315,824 (GRCm39) |
N987K |
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,876,676 (GRCm39) |
E209G |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,468 (GRCm39) |
I497L |
probably benign |
Het |
| Wrn |
C |
A |
8: 33,800,734 (GRCm39) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,720,086 (GRCm39) |
I193V |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation