Incidental Mutation 'IGL01484:Strip1'
ID 88869
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 # IGL01484
Quality Score
Status
Chromosome 3
Chromosomal Location 107519848-107539010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107520575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 825 (V825A)
Ref Sequence ENSEMBL: ENSMUSP00000068587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064759]
AlphaFold Q8C079
Predicted Effect probably damaging
Transcript: ENSMUST00000064759
AA Change: V825A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: V825A

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,579,006 (GRCm39) H90R possibly damaging Het
Arsj A G 3: 126,158,685 (GRCm39) D88G probably damaging Het
Clca4b C T 3: 144,633,996 (GRCm39) V140I probably benign Het
Dagla A C 19: 10,225,884 (GRCm39) L760R possibly damaging Het
Dnah1 T C 14: 31,021,897 (GRCm39) E1202G probably damaging Het
Hdac9 T C 12: 34,487,164 (GRCm39) H100R probably damaging Het
Hhip T C 8: 80,723,412 (GRCm39) H414R probably damaging Het
Hk2 G A 6: 82,713,711 (GRCm39) T457M probably damaging Het
Iapp A G 6: 142,249,165 (GRCm39) T73A possibly damaging Het
Ifit1 A G 19: 34,626,243 (GRCm39) N460D probably damaging Het
Itpa T C 2: 130,514,019 (GRCm39) F77L probably benign Het
Knop1 T C 7: 118,452,032 (GRCm39) D229G probably damaging Het
Lrrc32 T C 7: 98,143,442 (GRCm39) I5T probably damaging Het
Myo7a C T 7: 97,734,629 (GRCm39) V622M probably damaging Het
N4bp1 T C 8: 87,571,400 (GRCm39) E866G probably damaging Het
Or2t48 A T 11: 58,420,222 (GRCm39) W197R probably benign Het
Palmd G A 3: 116,746,794 (GRCm39) probably benign Het
Pcbp4 A G 9: 106,337,848 (GRCm39) probably null Het
Pigf T C 17: 87,316,308 (GRCm39) I157V probably benign Het
Pot1b G A 17: 56,002,160 (GRCm39) T138M possibly damaging Het
Prl7a2 T A 13: 27,843,191 (GRCm39) D204V probably damaging Het
Rfc3 A T 5: 151,566,401 (GRCm39) D349E probably benign Het
Sarm1 A T 11: 78,381,839 (GRCm39) C215S probably damaging Het
Serpine1 T C 5: 137,092,326 (GRCm39) probably benign Het
Stx12 A G 4: 132,611,673 (GRCm39) S2P probably damaging Het
Sycp1 A C 3: 102,823,183 (GRCm39) S311R probably benign Het
Tfpi A T 2: 84,275,169 (GRCm39) C139* probably null Het
Tmc5 T A 7: 118,256,010 (GRCm39) I695N probably damaging Het
Tmem169 T C 1: 72,340,263 (GRCm39) V231A probably damaging Het
Ttbk2 T G 2: 120,570,314 (GRCm39) S1211R possibly damaging Het
Ubr3 C T 2: 69,851,888 (GRCm39) R1855* probably null Het
Urb1 A T 16: 90,574,448 (GRCm39) S878T probably benign Het
Vmn1r174 T A 7: 23,453,749 (GRCm39) Y138* probably null Het
Zfp282 A G 6: 47,867,054 (GRCm39) N214D possibly damaging 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
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
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 2013-11-18