Incidental Mutation 'R5019:Skint8'
ID 389085
Institutional Source Beutler Lab
Gene Symbol Skint8
Ensembl Gene ENSMUSG00000078599
Gene Name selection and upkeep of intraepithelial T cells 8
Synonyms OTTMUSG00000009475
MMRRC Submission 042610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5019 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 111776643-111807558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111785845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000133268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106572] [ENSMUST00000165046]
AlphaFold A7XV07
Predicted Effect probably damaging
Transcript: ENSMUST00000106572
AA Change: V97A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102182
Gene: ENSMUSG00000078599
AA Change: V97A

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 noncoding transcript
Transcript: ENSMUST00000124862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147395
Predicted Effect probably damaging
Transcript: ENSMUST00000165046
AA Change: V97A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: V97A

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 92% (35/38)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C A 11: 110,056,760 (GRCm39) W20L probably benign Het
Adamts17 T A 7: 66,711,818 (GRCm39) Y81* probably null Het
Add3 A G 19: 53,231,002 (GRCm39) E559G probably damaging Het
Ahcyl2 A T 6: 29,859,738 (GRCm39) K6M possibly damaging Het
Asb3 A T 11: 31,031,415 (GRCm39) N345I possibly damaging Het
Carm1 T C 9: 21,490,807 (GRCm39) probably null Het
Ip6k2 T A 9: 108,674,945 (GRCm39) probably benign Het
Kdm4c T C 4: 74,261,772 (GRCm39) L649P probably damaging Het
Klra5 T C 6: 129,876,352 (GRCm39) T152A probably benign Het
Mars2 T C 1: 55,276,468 (GRCm39) S24P possibly damaging Het
Mfap2 A T 4: 140,742,569 (GRCm39) T142S probably damaging Het
Miga1 A C 3: 152,028,098 (GRCm39) S144A possibly damaging Het
Nalf1 A G 8: 9,820,240 (GRCm39) V260A probably benign Het
Or2l5 A T 16: 19,334,285 (GRCm39) F34I probably damaging Het
Or4d2b A G 11: 87,779,801 (GRCm39) V307A probably benign Het
Pate12 C A 9: 36,343,198 (GRCm39) Q7K probably benign Het
Pcdhgb6 A G 18: 37,875,994 (GRCm39) D234G probably damaging Het
Pclo A G 5: 14,764,381 (GRCm39) N4285D unknown Het
Pex1 T C 5: 3,672,331 (GRCm39) S725P probably damaging Het
Pigg A G 5: 108,480,015 (GRCm39) Y430C probably damaging Het
Plcb2 A T 2: 118,542,617 (GRCm39) L818Q probably benign Het
Psmd5 A G 2: 34,755,965 (GRCm39) probably benign Het
Tfap2b T C 1: 19,296,666 (GRCm39) V185A probably benign Het
Trim27 T C 13: 21,374,134 (GRCm39) F294L probably damaging Het
Trp53bp1 A T 2: 121,100,800 (GRCm39) probably null Het
Ttc28 T A 5: 111,249,930 (GRCm39) H293Q possibly damaging Het
Xkr5 T C 8: 18,992,126 (GRCm39) T88A probably benign Het
Xkr6 T G 14: 64,056,515 (GRCm39) I142S unknown Het
Zfp618 T C 4: 63,021,789 (GRCm39) Y252H probably damaging Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp809 A G 9: 22,148,998 (GRCm39) D84G probably benign 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
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
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'- GTCATGGCATCAGACTTATTTTGG -3'
(R):5'- AAGTCACTGGTATACTGTGCTC -3'

Sequencing Primer
(F):5'- CCTGTTAGCTAGAGTAGGAGGCC -3'
(R):5'- TGGTATACTGTGCTCCACAAAC -3'
Posted On 2016-06-06