Incidental Mutation 'R2358:Strip1'
| ID |
247000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strip1
|
| Ensembl Gene |
ENSMUSG00000014601 |
| Gene Name |
striatin interacting protein 1 |
| Synonyms |
Fam40a, 6330569M22Rik, 6530401O14Rik |
| MMRRC Submission |
040340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R2358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107519848-107539010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107523135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 633
(V633A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
|
| AlphaFold |
Q8C079 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064759
AA Change: V633A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: V633A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200049
|
| Meta Mutation Damage Score |
0.0677 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,171,895 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,117,895 (GRCm39) |
M30K |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
| Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
| Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,203,474 (GRCm39) |
|
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
| Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
| Kif28 |
A |
T |
1: 179,537,024 (GRCm39) |
H486Q |
probably damaging |
Het |
| Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,163,623 (GRCm39) |
D930G |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,825,785 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
| Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
| Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
| Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
| Vsig10l |
G |
A |
7: 43,118,185 (GRCm39) |
R689H |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
| Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTTCTGGTACTTTAAAAGCC -3'
(R):5'- TGCAATAGTGTCTCCACCCC -3'
Sequencing Primer
(F):5'- CCAAAGGTGACCTCTTCTGGAAG -3'
(R):5'- GCTTTTTGAGTCACAGAGCAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation