Incidental Mutation 'R1384:Strip1'
| ID |
163152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strip1
|
| Ensembl Gene |
ENSMUSG00000014601 |
| Gene Name |
striatin interacting protein 1 |
| Synonyms |
Fam40a, 6330569M22Rik, 6530401O14Rik |
| MMRRC Submission |
039446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R1384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107519848-107539010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107534155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 160
(S160G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
[ENSMUST00000106703]
|
| AlphaFold |
Q8C079 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064759
AA Change: S160G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: S160G
| 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
|
| Meta Mutation Damage Score |
0.0794 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
96% (54/56) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930408O17Rik |
G |
A |
12: 104,837,451 (GRCm39) |
|
noncoding transcript |
Het |
| A930033H14Rik |
A |
G |
10: 69,048,191 (GRCm39) |
|
probably benign |
Het |
| Abcf3 |
G |
A |
16: 20,378,053 (GRCm39) |
G522R |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
| Alg10b |
A |
G |
15: 90,111,785 (GRCm39) |
K210E |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| C9 |
G |
A |
15: 6,488,415 (GRCm39) |
V90I |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,022,709 (GRCm39) |
I634V |
probably benign |
Het |
| Catip |
A |
G |
1: 74,403,522 (GRCm39) |
D153G |
probably benign |
Het |
| Cpt1c |
G |
A |
7: 44,610,348 (GRCm39) |
|
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,002,102 (GRCm39) |
S296P |
probably damaging |
Het |
| Cyp2d41-ps |
G |
A |
15: 82,663,718 (GRCm39) |
|
noncoding transcript |
Het |
| Edc4 |
T |
A |
8: 106,619,014 (GRCm39) |
I1327N |
probably damaging |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,652 (GRCm39) |
K509E |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,394,719 (GRCm39) |
E96G |
probably damaging |
Het |
| Grid2ip |
T |
G |
5: 143,371,851 (GRCm39) |
|
probably null |
Het |
| Gucy1a2 |
A |
C |
9: 3,759,620 (GRCm39) |
E475D |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,666,090 (GRCm39) |
|
probably benign |
Het |
| Ica1 |
G |
A |
6: 8,742,262 (GRCm39) |
Q124* |
probably null |
Het |
| Igsf3 |
T |
C |
3: 101,358,612 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
G |
15: 34,409,956 (GRCm39) |
E462G |
probably benign |
Het |
| Men1 |
T |
C |
19: 6,389,921 (GRCm39) |
S464P |
probably benign |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,742 (GRCm39) |
E330V |
probably damaging |
Het |
| Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,364,014 (GRCm39) |
M492T |
possibly damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,284,261 (GRCm39) |
K67N |
probably null |
Het |
| Nostrin |
A |
G |
2: 69,019,406 (GRCm39) |
R484G |
probably benign |
Het |
| Or8g22 |
T |
A |
9: 38,958,200 (GRCm39) |
I172F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,923,119 (GRCm39) |
|
probably benign |
Het |
| P2rx5 |
A |
G |
11: 73,058,716 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,115,401 (GRCm39) |
|
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,237,082 (GRCm39) |
S266P |
probably benign |
Het |
| Pole |
G |
A |
5: 110,471,530 (GRCm39) |
V1425M |
possibly damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,510 (GRCm39) |
I66V |
probably benign |
Het |
| Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,025,832 (GRCm39) |
Y394C |
probably benign |
Het |
| Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,724,318 (GRCm39) |
K129R |
probably benign |
Het |
| Tfr2 |
T |
C |
5: 137,585,082 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,352,645 (GRCm39) |
S17P |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tspear |
T |
C |
10: 77,702,166 (GRCm39) |
F200L |
probably benign |
Het |
| Tspyl5 |
T |
A |
15: 33,687,526 (GRCm39) |
R140W |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,606,002 (GRCm39) |
D18236G |
probably damaging |
Het |
| Upf2 |
G |
A |
2: 5,965,800 (GRCm39) |
R140Q |
unknown |
Het |
| Vps4a |
T |
A |
8: 107,763,276 (GRCm39) |
I10N |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATTCCCAACAGCCTGGAACAGCTC -3'
(R):5'- GGCAACAGTAGTGTGACCTTATCCC -3'
Sequencing Primer
(F):5'- GGAACAGCTCCTTCACCTTAAATG -3'
(R):5'- ACACAGTCCATTCCATTGTGAGG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation