Incidental Mutation 'R1036:Skint1'
ID 93779
Institutional Source Beutler Lab
Gene Symbol Skint1
Ensembl Gene ENSMUSG00000089773
Gene Name selection and upkeep of intraepithelial T cells 1
Synonyms
MMRRC Submission 039135-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R1036 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 111863466-111886735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111876493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 138 (V138A)
Ref Sequence ENSEMBL: ENSMUSP00000125625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117379] [ENSMUST00000161389] [ENSMUST00000162158] [ENSMUST00000162885]
AlphaFold A7TZE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000117379
AA Change: V138A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124545
Gene: ENSMUSG00000089773
AA Change: V138A

DomainStartEndE-ValueType
IGv 44 125 1.88e-8 SMART
Pfam:C2-set_2 142 228 2.5e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161389
AA Change: V138A

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773
AA Change: V138A

DomainStartEndE-ValueType
IGv 44 125 1.88e-8 SMART
Pfam:C2-set_2 142 228 3.1e-6 PFAM
transmembrane domain 248 267 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162158
AA Change: V138A

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
AA Change: V138A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IGv 44 125 1.88e-8 SMART
transmembrane domain 247 269 N/A INTRINSIC
transmembrane domain 282 304 N/A INTRINSIC
transmembrane domain 326 348 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162885
AA Change: V138A

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125625
Gene: ENSMUSG00000089773
AA Change: V138A

DomainStartEndE-ValueType
IGv 44 125 1.88e-8 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 86.2%
Validation Efficiency 100% (40/40)
MGI Phenotype PHENOTYPE: Mice homozygous for a point mutation allele exhibit impaired T cell differentiation with reduced Vgamma5+Vdelta1+ T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abca12 A G 1: 71,302,569 (GRCm39) probably null Het
Abcg1 C A 17: 31,330,243 (GRCm39) Q515K probably damaging Het
Acaa1b A T 9: 118,979,884 (GRCm39) probably benign Het
Adamts3 T C 5: 89,843,952 (GRCm39) probably benign Het
Aoah A C 13: 21,024,339 (GRCm39) probably benign Het
Arhgap10 G A 8: 78,037,398 (GRCm39) P610L probably damaging Het
Casq2 G T 3: 102,049,531 (GRCm39) A295S probably damaging Het
Col6a4 A G 9: 105,945,397 (GRCm39) Y906H probably damaging Het
Dcaf13 T A 15: 39,007,113 (GRCm39) I349N probably damaging Het
Ecd A G 14: 20,383,386 (GRCm39) probably benign Het
Enpep C A 3: 129,077,758 (GRCm39) V620L probably damaging Het
Fbln7 A G 2: 128,735,815 (GRCm39) S268G possibly damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gatd1 T A 7: 140,989,045 (GRCm39) T205S probably damaging Het
Gbe1 T A 16: 70,325,775 (GRCm39) V604E probably damaging Het
Ghsr T A 3: 27,428,869 (GRCm39) I298N probably damaging Het
Glis1 T C 4: 107,489,461 (GRCm39) Y683H probably benign Het
Gpr162 T A 6: 124,837,823 (GRCm39) I276F probably damaging Het
Hps6 A G 19: 45,992,680 (GRCm39) T206A probably benign Het
Kcnk10 T C 12: 98,462,445 (GRCm39) probably benign Het
Krt90 A G 15: 101,471,151 (GRCm39) V37A probably benign Het
Lmbr1 T C 5: 29,463,745 (GRCm39) K160E probably damaging Het
Nif3l1 A G 1: 58,487,032 (GRCm39) T73A probably damaging Het
Nup107 A T 10: 117,593,199 (GRCm39) D826E probably damaging Het
Nup210l C T 3: 90,100,247 (GRCm39) probably benign Het
Omd A G 13: 49,743,447 (GRCm39) R166G probably damaging Het
Plekha4 T C 7: 45,199,400 (GRCm39) probably benign Het
Ptgdr A G 14: 45,096,572 (GRCm39) S47P probably damaging Het
Sec24c A G 14: 20,742,965 (GRCm39) I940V probably benign Het
Shkbp1 A G 7: 27,044,721 (GRCm39) S457P possibly damaging Het
Slc38a9 A G 13: 112,838,193 (GRCm39) probably benign Het
Spata31e5 A G 1: 28,816,883 (GRCm39) L383P probably benign Het
Srsf7 A T 17: 80,513,266 (GRCm39) probably benign Het
Stau1 T C 2: 166,793,235 (GRCm39) K300R probably damaging Het
Stox1 A T 10: 62,503,674 (GRCm39) I127K probably damaging Het
Sympk G A 7: 18,782,378 (GRCm39) R832Q probably damaging Het
Usp3 A G 9: 66,437,513 (GRCm39) probably benign Het
Other mutations in Skint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Skint1 APN 4 111,878,777 (GRCm39) critical splice donor site probably null
IGL01890:Skint1 APN 4 111,867,878 (GRCm39) missense probably damaging 1.00
IGL02020:Skint1 APN 4 111,882,724 (GRCm39) missense probably benign 0.08
IGL02045:Skint1 APN 4 111,882,727 (GRCm39) missense possibly damaging 0.80
R0421:Skint1 UTSW 4 111,876,211 (GRCm39) missense possibly damaging 0.74
R0544:Skint1 UTSW 4 111,878,562 (GRCm39) missense probably damaging 1.00
R0617:Skint1 UTSW 4 111,886,596 (GRCm39) splice site probably benign
R0881:Skint1 UTSW 4 111,886,054 (GRCm39) missense probably benign 0.04
R0973:Skint1 UTSW 4 111,885,412 (GRCm39) splice site probably benign
R1469:Skint1 UTSW 4 111,882,708 (GRCm39) missense probably benign 0.00
R1469:Skint1 UTSW 4 111,882,708 (GRCm39) missense probably benign 0.00
R2029:Skint1 UTSW 4 111,878,653 (GRCm39) splice site probably null
R2063:Skint1 UTSW 4 111,882,730 (GRCm39) missense probably benign 0.00
R2064:Skint1 UTSW 4 111,882,730 (GRCm39) missense probably benign 0.00
R2065:Skint1 UTSW 4 111,882,730 (GRCm39) missense probably benign 0.00
R2066:Skint1 UTSW 4 111,882,730 (GRCm39) missense probably benign 0.00
R2067:Skint1 UTSW 4 111,882,730 (GRCm39) missense probably benign 0.00
R2372:Skint1 UTSW 4 111,876,348 (GRCm39) missense probably damaging 1.00
R2518:Skint1 UTSW 4 111,882,678 (GRCm39) missense probably benign 0.25
R2971:Skint1 UTSW 4 111,878,527 (GRCm39) missense possibly damaging 0.50
R4656:Skint1 UTSW 4 111,878,674 (GRCm39) missense probably damaging 1.00
R4993:Skint1 UTSW 4 111,885,530 (GRCm39) critical splice donor site probably null
R5083:Skint1 UTSW 4 111,886,630 (GRCm39) missense probably benign 0.01
R5450:Skint1 UTSW 4 111,882,729 (GRCm39) missense probably benign 0.00
R5583:Skint1 UTSW 4 111,876,253 (GRCm39) missense probably damaging 1.00
R5645:Skint1 UTSW 4 111,882,699 (GRCm39) missense probably benign 0.41
R5877:Skint1 UTSW 4 111,878,720 (GRCm39) nonsense probably null
R5950:Skint1 UTSW 4 111,876,532 (GRCm39) missense probably benign
R5974:Skint1 UTSW 4 111,876,516 (GRCm39) missense probably benign 0.02
R6216:Skint1 UTSW 4 111,878,679 (GRCm39) missense probably benign 0.00
R6494:Skint1 UTSW 4 111,867,909 (GRCm39) missense probably benign 0.06
R7348:Skint1 UTSW 4 111,878,770 (GRCm39) missense probably damaging 1.00
R7752:Skint1 UTSW 4 111,876,399 (GRCm39) missense probably damaging 1.00
R7901:Skint1 UTSW 4 111,876,399 (GRCm39) missense probably damaging 1.00
R8515:Skint1 UTSW 4 111,867,921 (GRCm39) missense probably benign 0.10
R9417:Skint1 UTSW 4 111,878,509 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- CGGAACCTCTATACAGAGCCTGTGC -3'
(R):5'- CCTGACTGGAGAAGAATTCCACTGAAC -3'

Sequencing Primer
(F):5'- GGGAAAGTGACCCTTAGGATCT -3'
(R):5'- CTCACACAAATTATCCAGTGGATTG -3'
Posted On 2014-01-05