Incidental Mutation 'R5636:Skint8'
ID 440361
Institutional Source Beutler Lab
Gene Symbol Skint8
Ensembl Gene ENSMUSG00000078599
Gene Name selection and upkeep of intraepithelial T cells 8
Synonyms OTTMUSG00000009475
MMRRC Submission 043287-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5636 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 111776643-111807558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 111807390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 359 (L359M)
Ref Sequence ENSEMBL: ENSMUSP00000133268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165046]
AlphaFold A7XV07
Predicted Effect probably damaging
Transcript: ENSMUST00000165046
AA Change: L359M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: L359M

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,922,382 (GRCm39) Q448* probably null Het
Abca5 A G 11: 110,192,362 (GRCm39) Y717H probably benign Het
Abcg2 T A 6: 58,649,041 (GRCm39) D295E probably damaging Het
Accsl C T 2: 93,699,370 (GRCm39) E7K probably benign Het
Acvr2b A G 9: 119,257,375 (GRCm39) Y152C probably damaging Het
Akap13 A G 7: 75,354,120 (GRCm39) E1747G probably damaging Het
Arpp19 C T 9: 74,945,215 (GRCm39) probably benign Het
Atp10d A G 5: 72,445,562 (GRCm39) Y74C probably damaging Het
Atp6v0b T C 4: 117,743,582 (GRCm39) probably benign Het
Bms1 C A 6: 118,365,786 (GRCm39) M1133I probably benign Het
Bysl A C 17: 47,913,648 (GRCm39) D259E probably benign Het
Capn1 A T 19: 6,064,472 (GRCm39) V9E probably benign Het
Cdkl2 T C 5: 92,181,601 (GRCm39) I127V probably benign Het
Cyp2c38 G A 19: 39,426,750 (GRCm39) Q184* probably null Het
Cypt12 C T 3: 18,002,749 (GRCm39) R41C probably benign Het
Dnaaf11 A T 15: 66,372,665 (GRCm39) probably null Het
Fat2 T C 11: 55,173,307 (GRCm39) I2469V probably damaging Het
Fbxo38 A G 18: 62,644,089 (GRCm39) V923A possibly damaging Het
Gm13889 A G 2: 93,787,031 (GRCm39) C148R probably damaging Het
Gpd1 A T 15: 99,619,939 (GRCm39) T223S probably benign Het
Hcrtr1 C A 4: 130,024,738 (GRCm39) G383C possibly damaging Het
Hivep1 C T 13: 42,316,932 (GRCm39) P2047S possibly damaging Het
Islr2 T C 9: 58,108,584 (GRCm39) T35A probably benign Het
Lgr6 T C 1: 134,914,816 (GRCm39) D644G probably benign Het
Mdn1 C T 4: 32,695,480 (GRCm39) T1173I probably damaging Het
Mon1a T C 9: 107,778,439 (GRCm39) V221A probably damaging Het
Mrgprb4 A G 7: 47,848,218 (GRCm39) C237R probably benign Het
Myo1b A G 1: 51,836,687 (GRCm39) M264T probably damaging Het
Naxd A G 8: 11,552,676 (GRCm39) N32S probably benign Het
Nlrp12 A T 7: 3,273,926 (GRCm39) L1010Q probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nuggc A T 14: 65,885,637 (GRCm39) K755* probably null Het
Or2av9 T C 11: 58,380,877 (GRCm39) K235E probably damaging Het
Or9i2 C T 19: 13,815,701 (GRCm39) V279M possibly damaging Het
Pik3ca G A 3: 32,515,709 (GRCm39) R794Q probably damaging Het
Pnp2 A G 14: 51,193,649 (GRCm39) probably null Het
Ric3 G A 7: 108,638,027 (GRCm39) T242I probably damaging Het
Rnf213 A C 11: 119,327,731 (GRCm39) Q1906P probably damaging Het
Rnf213 G A 11: 119,327,455 (GRCm39) R1814K probably benign Het
Rufy2 T A 10: 62,833,733 (GRCm39) I265N probably damaging Het
Scap G T 9: 110,209,662 (GRCm39) G744C probably damaging Het
Serpinb3c T C 1: 107,202,744 (GRCm39) Q88R possibly damaging Het
Sf3b1 T C 1: 55,036,352 (GRCm39) D907G probably damaging Het
Slc4a3 C T 1: 75,530,860 (GRCm39) L749F possibly damaging Het
Smtn T G 11: 3,467,829 (GRCm39) probably null Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sptbn5 G A 2: 119,887,885 (GRCm39) probably benign Het
Stam G T 2: 14,122,238 (GRCm39) M112I probably damaging Het
Tex35 C T 1: 156,927,794 (GRCm39) W125* probably null Het
Tmem215 A G 4: 40,474,394 (GRCm39) E157G probably damaging Het
Traf6 G A 2: 101,527,254 (GRCm39) V335M probably benign Het
Ubr5 T A 15: 37,984,240 (GRCm39) K2302N probably damaging Het
Vmn2r78 A G 7: 86,603,637 (GRCm39) H605R probably damaging 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
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
R7336:Skint8 UTSW 4 111,796,769 (GRCm39) missense probably benign 0.32
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'- ACATTTGGTAGCATGCAAAGG -3'
(R):5'- TTCTGTGCTAGAAGACCTAGGC -3'

Sequencing Primer
(F):5'- GTTGAACCTATAGTACACAATCTCAC -3'
(R):5'- TCTGTGCTAGAAGACCTAGGCAAATG -3'
Posted On 2016-11-08