Incidental Mutation 'IGL02425:Strip1'
ID 292853
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 # IGL02425
Quality Score
Status
Chromosome 3
Chromosomal Location 107519848-107539010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107521962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 739 (I739V)
Ref Sequence ENSEMBL: ENSMUSP00000068587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064759]
AlphaFold Q8C079
Predicted Effect probably benign
Transcript: ENSMUST00000064759
AA Change: I739V

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: I739V

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430423G03Rik A G 5: 148,887,472 (GRCm39) probably benign Het
Adam4 C T 12: 81,468,102 (GRCm39) R173H probably benign Het
Akap12 A G 10: 4,306,034 (GRCm39) E948G possibly damaging Het
Akr1c12 T C 13: 4,323,749 (GRCm39) Y184C probably damaging Het
Avil T C 10: 126,854,316 (GRCm39) V761A probably benign Het
Bahd1 T A 2: 118,749,645 (GRCm39) F480L probably benign Het
Bicral T C 17: 47,119,380 (GRCm39) T714A probably benign Het
Cert1 T C 13: 96,746,390 (GRCm39) I263T probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2d34 C T 15: 82,502,480 (GRCm39) V219I probably benign Het
Dsn1 A G 2: 156,838,667 (GRCm39) V316A probably damaging Het
Errfi1 T A 4: 150,950,813 (GRCm39) F80L probably benign Het
Fam221b A G 4: 43,660,642 (GRCm39) probably null Het
Fgd6 G A 10: 93,910,064 (GRCm39) G790R probably benign Het
Fn1 T C 1: 71,680,302 (GRCm39) probably benign Het
Gldn T A 9: 54,246,005 (GRCm39) Y519N probably damaging Het
Il18r1 T C 1: 40,530,381 (GRCm39) probably benign Het
Itpr2 A G 6: 146,292,819 (GRCm39) V380A probably damaging Het
Kcnab1 T C 3: 65,209,600 (GRCm39) Y154H possibly damaging Het
Lama1 T C 17: 68,118,480 (GRCm39) V2564A probably benign Het
Lca5 T C 9: 83,281,774 (GRCm39) T337A probably damaging Het
Lrp1 A G 10: 127,407,756 (GRCm39) probably null Het
Moxd1 A G 10: 24,155,334 (GRCm39) N245S probably benign Het
Napepld T C 5: 21,888,440 (GRCm39) E3G probably benign Het
Nr1d2 T C 14: 18,222,011 (GRCm38) T87A probably benign Het
Nudt4 T A 10: 95,385,245 (GRCm39) T149S probably benign Het
Rad18 A T 6: 112,597,859 (GRCm39) D219E probably damaging Het
Ryr2 T C 13: 11,760,560 (GRCm39) I1508V probably damaging Het
Setx G A 2: 29,038,420 (GRCm39) S1635N probably benign Het
Slc6a19 A G 13: 73,839,919 (GRCm39) V121A probably benign Het
Snapc4 T C 2: 26,258,212 (GRCm39) D736G probably damaging Het
Spink5 T C 18: 44,123,811 (GRCm39) probably null Het
Tmem161a T C 8: 70,629,577 (GRCm39) probably null Het
Top1mt T C 15: 75,547,970 (GRCm39) T39A probably benign Het
Trpm1 T C 7: 63,890,175 (GRCm39) M926T probably damaging Het
Ttn T A 2: 76,587,624 (GRCm39) K19744* probably null Het
Vmn2r26 A G 6: 124,038,777 (GRCm39) E784G probably damaging Het
Wnk1 A G 6: 119,940,415 (GRCm39) F774S probably damaging Het
Zfp317 T A 9: 19,554,909 (GRCm39) Y101* probably null 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
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 2015-04-16