Incidental Mutation 'IGL02948:Strip1'
ID 364853
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) question?
Stock # IGL02948
Quality Score
Status
Chromosome 3
Chromosomal Location 107519848-107539010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107520582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 823 (R823G)
Ref Sequence ENSEMBL: ENSMUSP00000068587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064759]
AlphaFold Q8C079
Predicted Effect probably benign
Transcript: ENSMUST00000064759
AA Change: R823G

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: R823G

DomainStartEndE-ValueType
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: ENSMUST00000200049
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign Het
Other mutations in Strip1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-12-18