Incidental Mutation 'R2896:Skint8'
ID 260790
Institutional Source Beutler Lab
Gene Symbol Skint8
Ensembl Gene ENSMUSG00000078599
Gene Name selection and upkeep of intraepithelial T cells 8
Synonyms OTTMUSG00000009475
MMRRC Submission 040484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R2896 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 111776643-111807558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111807333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 340 (I340V)
Ref Sequence ENSEMBL: ENSMUSP00000133268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165046]
AlphaFold A7XV07
Predicted Effect probably null
Transcript: ENSMUST00000165046
AA Change: I340V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: I340V

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14b C T 9: 106,327,313 (GRCm39) R32C probably benign Het
Bpifb4 T G 2: 153,796,357 (GRCm39) probably benign Het
Cachd1 T A 4: 100,828,100 (GRCm39) L616Q probably damaging Het
Cmklr2 T A 1: 63,222,321 (GRCm39) I305L probably benign Het
Crebbp A G 16: 3,956,680 (GRCm39) L381P probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Esp6 T A 17: 40,873,834 (GRCm39) M7K possibly damaging Het
Fam83d G A 2: 158,627,898 (GRCm39) R529Q probably damaging Het
Gm26526 T G 7: 39,238,437 (GRCm39) noncoding transcript Het
Gm8374 T A 14: 18,537,084 (GRCm39) R47* probably null Het
Gss A G 2: 155,406,749 (GRCm39) L342P probably damaging Het
Ighv1-67 T A 12: 115,567,595 (GRCm39) T106S probably damaging Het
Kif21b T C 1: 136,081,955 (GRCm39) Y668H possibly damaging Het
Lcmt1 A G 7: 123,020,809 (GRCm39) R245G possibly damaging Het
Lpar6 A G 14: 73,476,716 (GRCm39) K226E probably damaging Het
Or11h23 T C 14: 50,947,973 (GRCm39) F62S probably damaging Het
Pcdh19 TGTCTCCTCCACGTC TGTC X: 132,582,058 (GRCm39) probably null Het
Pdcl A T 2: 37,245,702 (GRCm39) D100E possibly damaging Het
Phkg1 C A 5: 129,893,471 (GRCm39) K326N possibly damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Prss1 G A 6: 41,440,639 (GRCm39) W238* probably null Het
Rdh10 A T 1: 16,176,329 (GRCm39) probably null Het
Ror1 T C 4: 99,953,477 (GRCm39) L21P unknown Het
Spata18 T C 5: 73,815,145 (GRCm39) S85P probably damaging Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Ttll3 G T 6: 113,369,683 (GRCm39) A76S probably benign Het
Ttll4 T A 1: 74,724,517 (GRCm39) H562Q possibly damaging Het
Ubn1 A G 16: 4,873,083 (GRCm39) H35R possibly damaging Het
Ubr4 A G 4: 139,182,955 (GRCm39) probably null Het
Zfp456 T C 13: 67,515,416 (GRCm39) R97G possibly 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
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
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'- GACATTTGGTAGCATGCAAAGG -3'
(R):5'- TCTGTGCTAGAAGACCTAGGC -3'

Sequencing Primer
(F):5'- GGTAGCATGCAAAGGAATATTAAATG -3'
(R):5'- TGACACTGGCCAATCAGTTG -3'
Posted On 2015-01-23