Incidental Mutation 'R5623:Strip1'
| ID |
441671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strip1
|
| Ensembl Gene |
ENSMUSG00000014601 |
| Gene Name |
striatin interacting protein 1 |
| Synonyms |
Fam40a, 6330569M22Rik, 6530401O14Rik |
| MMRRC Submission |
043162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R5623 (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 107534142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 164
(E164G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064759]
[ENSMUST00000106703]
|
| AlphaFold |
Q8C079 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064759
AA Change: E164G
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: E164G
| 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 |
0.6496 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (65/66) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b1 |
T |
G |
18: 64,679,165 (GRCm39) |
Q772P |
possibly damaging |
Het |
| B3gnt2 |
C |
G |
11: 22,787,018 (GRCm39) |
A57P |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,835,651 (GRCm39) |
D63E |
probably damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,662,799 (GRCm39) |
E72G |
probably damaging |
Het |
| Cfap221 |
C |
T |
1: 119,881,898 (GRCm39) |
A297T |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,975,194 (GRCm39) |
N1081K |
probably damaging |
Het |
| Chrm3 |
C |
A |
13: 9,927,423 (GRCm39) |
V538L |
possibly damaging |
Het |
| Clec16a |
T |
A |
16: 10,428,985 (GRCm39) |
N37K |
probably benign |
Het |
| Cnksr3 |
T |
A |
10: 7,070,548 (GRCm39) |
I229F |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,483,168 (GRCm39) |
I1590T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,976 (GRCm39) |
E148G |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,146 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,214,885 (GRCm39) |
F895L |
possibly damaging |
Het |
| Dnah1 |
G |
T |
14: 31,007,980 (GRCm39) |
D2142E |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,229,214 (GRCm39) |
V1944A |
possibly damaging |
Het |
| Eif4a2 |
C |
T |
16: 22,928,969 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
A |
6: 41,593,415 (GRCm39) |
M487K |
probably benign |
Het |
| Fgf18 |
T |
G |
11: 33,084,272 (GRCm39) |
T61P |
probably damaging |
Het |
| G6pc2 |
A |
G |
2: 69,056,927 (GRCm39) |
E191G |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,026,318 (GRCm39) |
S55L |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,246 (GRCm39) |
F286S |
probably damaging |
Het |
| Gpcpd1 |
G |
T |
2: 132,376,637 (GRCm39) |
A553E |
probably damaging |
Het |
| Gpr153 |
A |
G |
4: 152,366,398 (GRCm39) |
D321G |
possibly damaging |
Het |
| Hecw2 |
T |
A |
1: 53,871,782 (GRCm39) |
Q1388L |
probably null |
Het |
| Ighv14-3 |
A |
C |
12: 114,023,710 (GRCm39) |
S36A |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,444,766 (GRCm39) |
G969V |
probably damaging |
Het |
| Kat5 |
G |
A |
19: 5,657,590 (GRCm39) |
R307W |
probably damaging |
Het |
| Klk1b21 |
A |
G |
7: 43,754,989 (GRCm39) |
S95G |
probably damaging |
Het |
| Mdm1 |
G |
A |
10: 117,986,694 (GRCm39) |
V171I |
possibly damaging |
Het |
| Nfu1 |
TCGC |
T |
6: 86,993,188 (GRCm39) |
|
probably benign |
Het |
| Or5k8 |
C |
T |
16: 58,644,706 (GRCm39) |
R122H |
probably benign |
Het |
| Or6c206 |
G |
A |
10: 129,096,901 (GRCm39) |
V24M |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,569,677 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,350,351 (GRCm39) |
T399S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 33,001,852 (GRCm39) |
|
probably benign |
Het |
| Psg21 |
A |
C |
7: 18,388,939 (GRCm39) |
L51R |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,857 (GRCm38) |
I526N |
probably damaging |
Het |
| Rab1a |
T |
C |
11: 20,151,626 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,342,011 (GRCm39) |
Q620L |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,453 (GRCm39) |
S58A |
probably benign |
Het |
| Scaper |
A |
C |
9: 55,771,791 (GRCm39) |
V375G |
probably benign |
Het |
| Sgk3 |
A |
T |
1: 9,872,520 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,066,408 (GRCm39) |
K192E |
probably benign |
Het |
| Slc34a3 |
T |
A |
2: 25,123,312 (GRCm39) |
|
probably null |
Het |
| Sspn |
T |
A |
6: 145,906,952 (GRCm39) |
C52S |
probably damaging |
Het |
| Sult5a1 |
A |
C |
8: 123,884,181 (GRCm39) |
S47A |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,964 (GRCm39) |
D1557G |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,940,224 (GRCm39) |
I275V |
probably damaging |
Het |
| Thada |
C |
T |
17: 84,499,411 (GRCm39) |
V1929I |
probably benign |
Het |
| Tmem132b |
G |
A |
5: 125,700,416 (GRCm39) |
R318Q |
probably damaging |
Het |
| Tmem176b |
T |
G |
6: 48,811,004 (GRCm39) |
I259L |
probably benign |
Het |
| Tmppe |
C |
A |
9: 114,234,964 (GRCm39) |
P421Q |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Tpcn2 |
T |
A |
7: 144,821,071 (GRCm39) |
R328W |
possibly damaging |
Het |
| Trem1 |
C |
T |
17: 48,544,083 (GRCm39) |
T36I |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,767,973 (GRCm39) |
R842L |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,199 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- TGGCCTATTTACCTGTCTCAAATG -3'
(R):5'- AGTGGACTGAGCTGGATACC -3'
Sequencing Primer
(F):5'- CTCAAATGCTAGTTCTAGAAGCTCGG -3'
(R):5'- CCATGAGGCTTCTGGATGGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation