Incidental Mutation 'R3427:Strip1'
ID 267908
Institutional Source Beutler Lab
Gene Symbol Strip1
Ensembl Gene ENSMUSG00000014601
Gene Name striatin interacting protein 1
Synonyms Fam40a, 6330569M22Rik, 6530401O14Rik
MMRRC Submission 040645-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R3427 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 107519848-107539010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107524138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 593 (H593R)
Ref Sequence ENSEMBL: ENSMUSP00000068587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064759]
AlphaFold Q8C079
Predicted Effect possibly damaging
Transcript: ENSMUST00000064759
AA Change: H593R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: H593R

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: ENSMUST00000198424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200049
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T A 9: 107,806,969 (GRCm39) F431I probably damaging Het
Asb18 C T 1: 89,896,315 (GRCm39) G242S probably damaging Het
Atp13a3 T C 16: 30,163,411 (GRCm39) I582V probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bsph1 T C 7: 13,206,168 (GRCm39) Y78H probably damaging Het
Chd6 G T 2: 160,832,175 (GRCm39) T999N probably damaging Het
Cps1 T A 1: 67,213,653 (GRCm39) V795E probably damaging Het
Crhr1 A G 11: 104,064,419 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctbp2 A T 7: 132,593,321 (GRCm39) H793Q probably damaging Het
Cul5 T C 9: 53,529,190 (GRCm39) M805V probably benign Het
Dctn3 T C 4: 41,719,858 (GRCm39) K83E probably damaging Het
Ep300 A G 15: 81,485,480 (GRCm39) N156D unknown Het
Epb42 A T 2: 120,860,520 (GRCm39) L160M probably damaging Het
Exosc2 T C 2: 31,569,900 (GRCm39) L237P probably damaging Het
Fiz1 A G 7: 5,015,708 (GRCm39) F94S probably damaging Het
Gm5422 A G 10: 31,124,842 (GRCm39) noncoding transcript Het
Igsf9b T C 9: 27,245,873 (GRCm39) F1280S probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kcnh1 T C 1: 191,924,238 (GRCm39) F151L probably benign Het
Nudc C T 4: 133,261,568 (GRCm39) G239S probably benign Het
Or6c215 T C 10: 129,637,720 (GRCm39) K225E possibly damaging Het
Plekhb1 T C 7: 100,294,857 (GRCm39) Y172C probably damaging Het
Plscr4 T C 9: 92,370,797 (GRCm39) S255P probably damaging Het
Rbm26 A G 14: 105,368,968 (GRCm39) V737A probably damaging Het
Rps6ka4 C A 19: 6,815,123 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rttn G A 18: 89,113,775 (GRCm39) probably null Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Sycp1 A T 3: 102,783,666 (GRCm39) C603S probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc1 C T 9: 95,614,249 (GRCm39) R5Q probably benign Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCCATGTATTCAAACTGAAACC -3'
(R):5'- ATCTCCTCTGTGGACACCTG -3'

Sequencing Primer
(F):5'- ATAAGCACAGCCCTGGTTCTC -3'
(R):5'- TCTGTGGACACCTGGGAAG -3'
Posted On 2015-02-18