Incidental Mutation 'IGL02948:Strip1'
ID364853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Strip1
Ensembl Gene ENSMUSG00000014601
Gene Namestriatin interacting protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL02948
Quality Score
Status
Chromosome3
Chromosomal Location107612532-107631694 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107613266 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 823 (R823G)
Ref Sequence ENSEMBL: ENSMUSP00000068587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064759]
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: 23,094,319 probably benign Het
Ano3 A T 2: 110,697,018 probably benign Het
Arpp21 T C 9: 112,176,200 Y193C probably damaging Het
Atm G A 9: 53,453,440 probably benign Het
Ceacam13 C T 7: 18,011,063 probably benign Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Clec7a A C 6: 129,465,478 D195E possibly damaging Het
Cnksr1 T C 4: 134,235,106 probably null Het
Cntn1 A G 15: 92,246,010 T285A probably benign Het
Dusp4 G T 8: 34,818,572 G329V probably damaging Het
Emb C A 13: 117,273,066 probably benign Het
Esyt1 A T 10: 128,519,171 S496T probably damaging Het
Evpl T C 11: 116,221,822 T1681A probably damaging Het
Fam131b A C 6: 42,320,992 probably benign Het
Fam162b T C 10: 51,587,296 M92V probably damaging Het
Fbxw2 T C 2: 34,805,711 *455W probably null Het
Gm12886 A G 4: 121,423,037 L14P unknown Het
Gpc4 A T X: 52,074,301 V235E probably damaging Het
Gss A G 2: 155,577,621 L170P probably damaging Het
Hbs1l C T 10: 21,341,711 probably benign Het
Hhatl T C 9: 121,789,791 M92V probably benign Het
Hhla1 A T 15: 65,942,693 L194H probably damaging Het
Hivep2 C A 10: 14,129,013 R452S probably benign Het
Homer2 C A 7: 81,649,645 W24L probably damaging Het
Lhcgr A T 17: 88,742,622 L492H probably damaging Het
Lrba C A 3: 86,310,384 probably null Het
Lrp2 G T 2: 69,487,837 P2090Q probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Madd T A 2: 91,142,827 M1497L probably benign Het
Naprt C T 15: 75,892,357 R336Q probably damaging Het
Nars A G 18: 64,505,195 C266R possibly damaging Het
Olfr1420 T A 19: 11,896,781 Y253* probably null Het
Olfr175-ps1 T A 16: 58,824,088 Q207L probably benign Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pstpip2 A G 18: 77,854,807 N86S probably benign Het
Ptgfrn T C 3: 101,072,819 T402A probably benign Het
Rnf130 T C 11: 50,052,771 probably benign Het
Ropn1l T C 15: 31,451,179 D53G possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Rtn2 T C 7: 19,293,111 S17P probably damaging Het
Shank2 T C 7: 144,409,636 V327A probably benign Het
Slc22a16 T G 10: 40,573,962 Y131* probably null Het
Slc28a2 T A 2: 122,457,977 M583K possibly damaging Het
Slco1a6 G T 6: 142,133,235 probably null Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tmem104 G T 11: 115,197,296 A36S probably damaging Het
Trim55 T A 3: 19,670,952 L211Q probably damaging Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Unc13a C T 8: 71,650,549 R931H possibly damaging Het
Utp4 T A 8: 106,894,641 S17T probably benign Het
Other mutations in Strip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Strip1 APN 3 107621445 missense probably damaging 0.99
IGL01150:Strip1 APN 3 107626731 splice site probably null
IGL01484:Strip1 APN 3 107613259 missense probably damaging 0.99
IGL01862:Strip1 APN 3 107621882 missense probably damaging 0.99
IGL02425:Strip1 APN 3 107614646 missense probably benign 0.08
IGL02537:Strip1 APN 3 107616894 missense possibly damaging 0.94
IGL03179:Strip1 APN 3 107620255 missense probably damaging 0.99
PIT4472001:Strip1 UTSW 3 107628170 missense probably benign 0.19
R0197:Strip1 UTSW 3 107614613 missense probably damaging 0.99
R0526:Strip1 UTSW 3 107620039 critical splice donor site probably null
R0543:Strip1 UTSW 3 107626775 missense possibly damaging 0.93
R0883:Strip1 UTSW 3 107614613 missense probably damaging 0.99
R1070:Strip1 UTSW 3 107627408 missense possibly damaging 0.81
R1384:Strip1 UTSW 3 107626839 missense probably benign 0.00
R1467:Strip1 UTSW 3 107627408 missense possibly damaging 0.81
R1467:Strip1 UTSW 3 107627408 missense possibly damaging 0.81
R1772:Strip1 UTSW 3 107626731 splice site probably null
R2358:Strip1 UTSW 3 107615819 missense probably benign 0.01
R2484:Strip1 UTSW 3 107628221 missense possibly damaging 0.81
R2931:Strip1 UTSW 3 107625659 splice site probably null
R3427:Strip1 UTSW 3 107616822 missense possibly damaging 0.68
R4584:Strip1 UTSW 3 107624503 missense probably benign 0.39
R4780:Strip1 UTSW 3 107626998 missense probably benign 0.01
R4853:Strip1 UTSW 3 107616916 missense possibly damaging 0.93
R5623:Strip1 UTSW 3 107626826 missense possibly damaging 0.69
R5801:Strip1 UTSW 3 107621441 missense possibly damaging 0.50
R6345:Strip1 UTSW 3 107628200 missense probably damaging 1.00
R6860:Strip1 UTSW 3 107618936 missense possibly damaging 0.50
R6869:Strip1 UTSW 3 107613445 missense probably damaging 1.00
R7022:Strip1 UTSW 3 107626795 missense probably benign 0.09
R7192:Strip1 UTSW 3 107615335 missense possibly damaging 0.94
R7387:Strip1 UTSW 3 107625730 missense probably damaging 0.99
R7631:Strip1 UTSW 3 107616931 missense possibly damaging 0.46
R8032:Strip1 UTSW 3 107618078 missense probably damaging 0.99
R8095:Strip1 UTSW 3 107618139 missense possibly damaging 0.82
R8302:Strip1 UTSW 3 107625708 missense probably damaging 1.00
R8725:Strip1 UTSW 3 107614648 missense probably damaging 1.00
R8727:Strip1 UTSW 3 107614648 missense probably damaging 1.00
Z1177:Strip1 UTSW 3 107615769 nonsense probably null
Posted On2015-12-18