Incidental Mutation 'R8302:Strip1'
ID 646441
Institutional Source Beutler Lab
Gene Symbol Strip1
Ensembl Gene ENSMUSG00000014601
Gene Name striatin interacting protein 1
Synonyms Fam40a, 6330569M22Rik, 6530401O14Rik
MMRRC Submission 067790-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R8302 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 107519848-107539010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107533024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 208 (I208N)
Ref Sequence ENSEMBL: ENSMUSP00000068587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064759]
AlphaFold Q8C079
Predicted Effect probably damaging
Transcript: ENSMUST00000064759
AA Change: I208N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068587
Gene: ENSMUSG00000014601
AA Change: I208N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,853,406 (GRCm39) probably null Het
Ank3 T C 10: 69,840,810 (GRCm39) S1937P possibly damaging Het
Atg5 T A 10: 44,162,115 (GRCm39) D10E probably benign Het
Car12 A G 9: 66,654,879 (GRCm39) D103G probably benign Het
Cpa3 A G 3: 20,276,316 (GRCm39) Y306H probably damaging Het
Cyp2c40 A G 19: 39,796,066 (GRCm39) V104A probably damaging Het
Cyp2c66 A T 19: 39,165,078 (GRCm39) H353L probably damaging Het
Cyp2d22 A G 15: 82,256,021 (GRCm39) probably null Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Exph5 A G 9: 53,287,776 (GRCm39) E1619G possibly damaging Het
Frmd5 T A 2: 121,378,060 (GRCm39) T435S unknown Het
Gm3371 T C 14: 44,641,181 (GRCm39) R128G Het
Gper1 A G 5: 139,412,030 (GRCm39) D125G probably benign Het
Il17re C A 6: 113,443,280 (GRCm39) S340* probably null Het
Kazald1 T A 19: 45,065,278 (GRCm39) L53Q probably damaging Het
Kdm3b A T 18: 34,967,388 (GRCm39) H1731L probably damaging Het
Kif20a T C 18: 34,765,030 (GRCm39) S755P probably damaging Het
Lrch1 T C 14: 75,032,772 (GRCm39) N526S probably benign Het
Map3k8 T C 18: 4,334,064 (GRCm39) I343V probably damaging Het
Nabp1 A T 1: 51,511,498 (GRCm39) F140L probably benign Het
Ncor1 A G 11: 62,224,681 (GRCm39) S860P probably benign Het
Ndufaf5 T A 2: 140,030,698 (GRCm39) Y195N possibly damaging Het
Nsfl1c T C 2: 151,346,056 (GRCm39) L157P probably damaging Het
Or2aj5 T A 16: 19,425,116 (GRCm39) I100L probably benign Het
Or4c104 T A 2: 88,586,987 (GRCm39) I11F possibly damaging Het
Or5ak24 T A 2: 85,260,430 (GRCm39) T248S possibly damaging Het
Pcdh10 A G 3: 45,335,933 (GRCm39) Y749C probably damaging Het
Plcz1 T A 6: 139,974,163 (GRCm39) K93I probably damaging Het
Plpbp T C 8: 27,539,216 (GRCm39) S109P Het
Prkdc G A 16: 15,653,946 (GRCm39) R3901H probably damaging Het
Psma6 A T 12: 55,456,966 (GRCm39) Y103F probably benign Het
Ptpn3 A G 4: 57,218,514 (GRCm39) F650L probably benign Het
Pxk T C 14: 8,164,094 (GRCm38) F562S probably damaging Het
Rbl2 A G 8: 91,812,073 (GRCm39) D214G probably damaging Het
Rgs17 C T 10: 5,812,525 (GRCm39) C58Y possibly damaging Het
Rnf6 A T 5: 146,148,334 (GRCm39) V228E probably benign Het
Sardh T C 2: 27,105,122 (GRCm39) D667G probably benign Het
Slc12a1 T A 2: 125,032,209 (GRCm39) V620D probably damaging Het
Slc39a7 A G 17: 34,249,686 (GRCm39) I153T probably damaging Het
Slc5a11 T C 7: 122,847,162 (GRCm39) V125A probably damaging Het
Slc9c1 T C 16: 45,368,058 (GRCm39) F216L probably benign Het
Top1 T C 2: 160,545,496 (GRCm39) M288T probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trmt2a T C 16: 18,067,813 (GRCm39) V162A probably damaging Het
Wdr35 T C 12: 9,078,110 (GRCm39) I1167T probably benign Het
Wdr76 C A 2: 121,341,044 (GRCm39) H30N probably benign Het
Zan A G 5: 137,407,923 (GRCm39) S3624P unknown Het
Zc3h7a T C 16: 10,955,249 (GRCm39) K942E probably damaging Het
Zfp292 A G 4: 34,810,893 (GRCm39) V722A possibly damaging Het
Zfp943 A G 17: 22,211,091 (GRCm39) H59R 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
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
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'- AGCAGATCTATTAAGAGGCTCGATC -3'
(R):5'- AGTGGTGTCCTAAGGTCTCG -3'

Sequencing Primer
(F):5'- TAAGAGGCTCGATCCCAGATTTC -3'
(R):5'- TCTCGTGTAGAGCCCAGATG -3'
Posted On 2020-09-02