Incidental Mutation 'R7336:Skint8'
ID 569477
Institutional Source Beutler Lab
Gene Symbol Skint8
Ensembl Gene ENSMUSG00000078599
Gene Name selection and upkeep of intraepithelial T cells 8
Synonyms OTTMUSG00000009475
MMRRC Submission 045426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R7336 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 111776643-111807558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111796769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 291 (V291A)
Ref Sequence ENSEMBL: ENSMUSP00000133268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106572] [ENSMUST00000165046]
AlphaFold A7XV07
Predicted Effect probably benign
Transcript: ENSMUST00000106572
AA Change: V291A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102182
Gene: ENSMUSG00000078599
AA Change: V291A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 34 141 3.13e-5 SMART
Blast:IG_like 148 231 9e-16 BLAST
transmembrane domain 243 265 N/A INTRINSIC
transmembrane domain 285 307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165046
AA Change: V291A

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: V291A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 34 141 3.13e-5 SMART
transmembrane domain 243 265 N/A INTRINSIC
transmembrane domain 285 307 N/A INTRINSIC
transmembrane domain 327 352 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,840,174 (GRCm39) probably null Het
Abca15 A T 7: 119,987,456 (GRCm39) Q1247H possibly damaging Het
Acsf2 G C 11: 94,462,476 (GRCm39) Q180E probably benign Het
Adamts8 A G 9: 30,873,363 (GRCm39) D856G probably benign Het
Agrn A T 4: 156,259,371 (GRCm39) C828* probably null Het
Ankub1 T C 3: 57,573,108 (GRCm39) T205A probably benign Het
Atm A T 9: 53,373,803 (GRCm39) Y2150N possibly damaging Het
Barhl1 A G 2: 28,799,855 (GRCm39) F257L probably benign Het
Bcat2 T A 7: 45,224,909 (GRCm39) C27S probably benign Het
Bod1l G A 5: 41,978,867 (GRCm39) R816C probably damaging Het
Btg3 A G 16: 78,161,695 (GRCm39) Y172H probably benign Het
Cacna1d T C 14: 29,767,239 (GRCm39) D1940G probably benign Het
Catsperg2 T A 7: 29,406,026 (GRCm39) N624I possibly damaging Het
Ccdc146 A G 5: 21,508,110 (GRCm39) V646A probably benign Het
Ccp110 C T 7: 118,321,433 (GRCm39) P363S probably damaging Het
Cct4 C A 11: 22,951,564 (GRCm39) T377K possibly damaging Het
Cemip2 C A 19: 21,803,509 (GRCm39) Y847* probably null Het
Cep350 T A 1: 155,738,022 (GRCm39) H2607L probably benign Het
Cfap46 A G 7: 139,200,020 (GRCm39) F1954L unknown Het
Chat C T 14: 32,145,213 (GRCm39) probably null Het
Clasp2 A G 9: 113,705,421 (GRCm39) probably null Het
Cldn9 T C 17: 23,901,989 (GRCm39) D212G probably benign Het
Cp G A 3: 20,018,696 (GRCm39) probably null Het
Cyfip1 T A 7: 55,576,148 (GRCm39) I1108N possibly damaging Het
Dnah14 A G 1: 181,625,299 (GRCm39) D4060G probably damaging Het
Dpyd A G 3: 118,858,570 (GRCm39) T595A probably damaging Het
Eps8 G A 6: 137,486,211 (GRCm39) R434C possibly damaging Het
Fasl A G 1: 161,615,557 (GRCm39) Y100H probably damaging Het
Fkbp9 A T 6: 56,826,712 (GRCm39) N104I probably damaging Het
Frmd4a A G 2: 4,478,025 (GRCm39) T65A possibly damaging Het
Gm1110 T C 9: 26,825,653 (GRCm39) N102S probably damaging Het
Gm2381 T C 7: 42,471,804 (GRCm39) Q25R possibly damaging Het
Gtpbp2 A G 17: 46,472,239 (GRCm39) Y58C probably damaging Het
H2-T3 C A 17: 36,498,237 (GRCm39) K269N probably damaging Het
Icosl C A 10: 77,909,707 (GRCm39) Y217* probably null Het
Il17rd G T 14: 26,809,503 (GRCm39) R153L probably benign Het
Kif17 C A 4: 138,025,617 (GRCm39) T973K possibly damaging Het
Klk1b16 A G 7: 43,790,907 (GRCm39) I236M probably benign Het
Lgmn G A 12: 102,389,998 (GRCm39) probably benign Het
Lmbr1l T C 15: 98,811,468 (GRCm39) D54G possibly damaging Het
Lrrc49 A T 9: 60,584,474 (GRCm39) I196N possibly damaging Het
Maml1 C T 11: 50,157,276 (GRCm39) A300T possibly damaging Het
Mapkap1 A T 2: 34,423,829 (GRCm39) Q293L possibly damaging Het
Mki67 T C 7: 135,315,568 (GRCm39) T69A probably benign Het
Mlph G A 1: 90,849,705 (GRCm39) probably null Het
Myh1 A T 11: 67,111,435 (GRCm39) M1625L probably benign Het
Myh3 G T 11: 66,981,847 (GRCm39) R781L probably benign Het
Nckap5 A T 1: 125,953,786 (GRCm39) I922K probably benign Het
Nlrp5 T A 7: 23,117,059 (GRCm39) M261K probably damaging Het
Or1e1d-ps1 G A 11: 73,819,663 (GRCm39) M204I probably benign Het
Or4f47 A T 2: 111,972,514 (GRCm39) S75C possibly damaging Het
Or5af1 T A 11: 58,722,750 (GRCm39) Y257N probably damaging Het
Or8g52 A G 9: 39,630,906 (GRCm39) N128D probably benign Het
Pak1 T A 7: 97,538,179 (GRCm39) V262E probably benign Het
Pigw A T 11: 84,767,930 (GRCm39) D466E probably damaging Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Rbm15 A C 3: 107,240,432 (GRCm39) probably benign Het
Rfx1 A G 8: 84,800,385 (GRCm39) probably benign Het
Rfx7 A G 9: 72,500,639 (GRCm39) Y133C probably damaging Het
Serpinb9d T A 13: 33,384,702 (GRCm39) D226E probably benign Het
Sgk3 G A 1: 9,954,701 (GRCm39) A271T possibly damaging Het
Sh2d5 T A 4: 137,984,150 (GRCm39) C173S probably benign Het
Slc22a27 T A 19: 7,904,054 (GRCm39) N28Y probably benign Het
Slc25a54 G A 3: 109,023,751 (GRCm39) V449I probably benign Het
Slc39a9 T C 12: 80,726,316 (GRCm39) F255S probably damaging Het
Spata31d1c C T 13: 65,183,942 (GRCm39) H495Y probably damaging Het
Stab2 G A 10: 86,805,049 (GRCm39) Q310* probably null Het
Supt16 C A 14: 52,408,948 (GRCm39) A809S possibly damaging Het
Tenm3 A T 8: 48,689,212 (GRCm39) M2125K possibly damaging Het
Tex2 G A 11: 106,439,685 (GRCm39) T565M unknown Het
Tll1 G A 8: 64,478,176 (GRCm39) A859V probably damaging Het
Tmem106c C T 15: 97,867,512 (GRCm39) T232I possibly damaging Het
Trim65 T G 11: 116,019,116 (GRCm39) D141A probably benign Het
Trim80 T C 11: 115,332,042 (GRCm39) F78S probably damaging Het
Txnrd1 T A 10: 82,709,051 (GRCm39) I83N probably benign Het
Vnn3 G A 10: 23,727,806 (GRCm39) G72D probably benign Het
Wasl G T 6: 24,619,686 (GRCm39) P278Q unknown Het
Wdr62 A T 7: 29,943,342 (GRCm39) L951Q probably damaging Het
Zfp760 C T 17: 21,942,814 (GRCm39) T663I unknown Het
Other mutations in Skint8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Skint8 APN 4 111,796,120 (GRCm39) missense probably benign 0.05
IGL01411:Skint8 APN 4 111,794,103 (GRCm39) missense probably damaging 0.97
IGL02973:Skint8 APN 4 111,796,790 (GRCm39) missense probably benign 0.09
IGL03154:Skint8 APN 4 111,796,707 (GRCm39) splice site probably null
FR4976:Skint8 UTSW 4 111,796,099 (GRCm39) missense probably benign 0.02
R0309:Skint8 UTSW 4 111,796,064 (GRCm39) missense probably benign 0.02
R0448:Skint8 UTSW 4 111,794,087 (GRCm39) missense probably damaging 1.00
R0483:Skint8 UTSW 4 111,796,020 (GRCm39) splice site probably benign
R0586:Skint8 UTSW 4 111,794,126 (GRCm39) missense probably damaging 1.00
R1076:Skint8 UTSW 4 111,784,416 (GRCm39) missense probably damaging 1.00
R1169:Skint8 UTSW 4 111,785,710 (GRCm39) missense possibly damaging 0.86
R1588:Skint8 UTSW 4 111,785,924 (GRCm39) nonsense probably null
R1707:Skint8 UTSW 4 111,796,769 (GRCm39) missense probably damaging 1.00
R1865:Skint8 UTSW 4 111,794,192 (GRCm39) missense probably damaging 1.00
R1954:Skint8 UTSW 4 111,807,278 (GRCm39) missense possibly damaging 0.54
R2147:Skint8 UTSW 4 111,794,274 (GRCm39) missense probably damaging 1.00
R2896:Skint8 UTSW 4 111,807,333 (GRCm39) missense probably null
R4945:Skint8 UTSW 4 111,796,805 (GRCm39) missense probably damaging 0.96
R5019:Skint8 UTSW 4 111,785,845 (GRCm39) missense probably damaging 0.99
R5281:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5284:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5289:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5309:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5310:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5588:Skint8 UTSW 4 111,794,089 (GRCm39) missense probably benign 0.01
R5636:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5637:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5638:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5639:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5719:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5720:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5754:Skint8 UTSW 4 111,807,387 (GRCm39) missense probably benign
R5850:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R5855:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R6036:Skint8 UTSW 4 111,807,390 (GRCm39) missense probably damaging 0.98
R6525:Skint8 UTSW 4 111,785,935 (GRCm39) missense probably damaging 0.98
R6554:Skint8 UTSW 4 111,784,413 (GRCm39) missense probably benign 0.35
R6578:Skint8 UTSW 4 111,794,159 (GRCm39) missense probably benign 0.03
R6841:Skint8 UTSW 4 111,785,968 (GRCm39) missense probably damaging 1.00
R7000:Skint8 UTSW 4 111,794,222 (GRCm39) missense probably benign 0.16
R7317:Skint8 UTSW 4 111,796,717 (GRCm39) missense possibly damaging 0.94
R7412:Skint8 UTSW 4 111,785,758 (GRCm39) missense probably benign 0.07
R7480:Skint8 UTSW 4 111,785,784 (GRCm39) nonsense probably null
R8027:Skint8 UTSW 4 111,785,936 (GRCm39) missense probably benign 0.36
R8204:Skint8 UTSW 4 111,796,090 (GRCm39) missense probably benign 0.03
R8963:Skint8 UTSW 4 111,794,241 (GRCm39) missense probably benign 0.03
R9084:Skint8 UTSW 4 111,794,210 (GRCm39) missense probably benign 0.11
R9249:Skint8 UTSW 4 111,794,159 (GRCm39) missense probably damaging 0.98
R9283:Skint8 UTSW 4 111,785,644 (GRCm39) missense probably damaging 0.99
Z1177:Skint8 UTSW 4 111,794,251 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- ACCAAACTTTCAGATGGATTTCTGC -3'
(R):5'- AAATGGTCCTGTGAGATGCCATC -3'

Sequencing Primer
(F):5'- TTCTGCTAAATAGATCAAGAGGGC -3'
(R):5'- AAGCACAGGTTCTCCTAGTAGTG -3'
Posted On 2019-09-13