Incidental Mutation 'R6216:Skint1'
ID 503702
Institutional Source Beutler Lab
Gene Symbol Skint1
Ensembl Gene ENSMUSG00000089773
Gene Name selection and upkeep of intraepithelial T cells 1
Synonyms
MMRRC Submission 044349-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6216 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 111863466-111886735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111878679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 204 (S204T)
Ref Sequence ENSEMBL: ENSMUSP00000124545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117379] [ENSMUST00000161389] [ENSMUST00000162158] [ENSMUST00000162885]
AlphaFold A7TZE6
Predicted Effect probably benign
Transcript: ENSMUST00000117379
AA Change: S204T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124545
Gene: ENSMUSG00000089773
AA Change: S204T

DomainStartEndE-ValueType
IGv 44 125 1.88e-8 SMART
Pfam:C2-set_2 142 228 2.5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161389
AA Change: S204T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773
AA Change: S204T

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 probably benign
Transcript: ENSMUST00000162158
AA Change: S204T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
AA Change: S204T

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 probably benign
Transcript: ENSMUST00000162885
SMART Domains Protein: ENSMUSP00000125625
Gene: ENSMUSG00000089773

DomainStartEndE-ValueType
IGv 44 125 1.88e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (67/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,910 (GRCm39) D488G probably benign Het
Adgrv1 C A 13: 81,672,590 (GRCm39) probably null Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh3 G A 2: 93,838,881 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,101,569 (GRCm39) probably null Het
Anks1b A G 10: 90,096,618 (GRCm39) D425G probably damaging Het
Arid2 A G 15: 96,254,790 (GRCm39) D212G probably benign Het
Bbx A T 16: 50,071,751 (GRCm39) S225T probably benign Het
Bivm T A 1: 44,166,028 (GRCm39) probably null Het
Bpifb3 A G 2: 153,767,773 (GRCm39) Y282C probably benign Het
Cacna1h A T 17: 25,597,793 (GRCm39) I1767N probably damaging Het
Ccdc28a G T 10: 18,100,719 (GRCm39) S36* probably null Het
Ccser2 A G 14: 36,662,465 (GRCm39) S240P probably damaging Het
Ceacam1 A T 7: 25,171,421 (GRCm39) S348T probably benign Het
Ddx49 C T 8: 70,749,934 (GRCm39) G161D probably damaging Het
Dhx16 A G 17: 36,193,864 (GRCm39) E353G possibly damaging Het
Dnaaf6rt A T 1: 31,262,432 (GRCm39) D138V probably damaging Het
Etv2 A G 7: 30,334,036 (GRCm39) probably null Het
Extl1 T C 4: 134,090,441 (GRCm39) T345A probably benign Het
Fam163a A T 1: 155,954,741 (GRCm39) S137T probably benign Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fsd1l T C 4: 53,694,742 (GRCm39) C388R probably damaging Het
Galnt18 A C 7: 111,112,757 (GRCm39) V470G probably benign Het
Grin2b T A 6: 135,749,397 (GRCm39) I602F probably damaging Het
Gucy1b1 G T 3: 81,954,020 (GRCm39) probably null Het
Hace1 T C 10: 45,494,643 (GRCm39) V151A probably benign Het
Hadhb T A 5: 30,379,929 (GRCm39) D258E probably benign Het
Heatr1 C T 13: 12,447,545 (GRCm39) T1746I probably benign Het
Hrnr T C 3: 93,239,469 (GRCm39) S3236P unknown Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Kiz C A 2: 146,731,417 (GRCm39) D302E probably damaging Het
Kng2 A T 16: 22,806,343 (GRCm39) W619R probably damaging Het
Mfap3l C A 8: 61,124,841 (GRCm39) T361K probably damaging Het
Mlec T C 5: 115,288,376 (GRCm39) H160R probably benign Het
Myo16 T C 8: 10,365,494 (GRCm39) L89P probably benign Het
Neb T C 2: 52,114,564 (GRCm39) I4232V probably benign Het
Nf1 A G 11: 79,302,433 (GRCm39) I334V possibly damaging Het
Nipbl A C 15: 8,347,867 (GRCm39) F1942V probably damaging Het
Or2ag17 A T 7: 106,389,665 (GRCm39) I181N probably benign Het
Or4a70 C A 2: 89,324,066 (GRCm39) V197F probably damaging Het
Or4c11c T C 2: 88,661,655 (GRCm39) S65P probably damaging Het
Or51a10 A G 7: 103,698,902 (GRCm39) Y220H probably damaging Het
Pabpc2 G T 18: 39,907,772 (GRCm39) A346S probably damaging Het
Paxip1 T C 5: 27,971,171 (GRCm39) T393A unknown Het
Pcdhgb5 A T 18: 37,864,981 (GRCm39) T259S probably benign Het
Pfkp A T 13: 6,669,224 (GRCm39) L253H probably benign Het
Piezo1 T C 8: 123,215,869 (GRCm39) D1428G probably benign Het
Pkd1l2 T G 8: 117,808,209 (GRCm39) D105A probably damaging Het
Pou2f1 G T 1: 165,707,889 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,256,921 (GRCm39) E100G probably damaging Het
Ppp1r15a G T 7: 45,173,446 (GRCm39) T454K probably damaging Het
Prpsap1 A T 11: 116,362,239 (GRCm39) I381N probably damaging Het
Ptx3 T A 3: 66,132,265 (GRCm39) V262E probably damaging Het
Rab21 A T 10: 115,130,831 (GRCm39) H158Q probably benign Het
Rasa2 A G 9: 96,426,357 (GRCm39) S830P probably damaging Het
Rdh1 G A 10: 127,600,622 (GRCm39) S215N probably benign Het
Rhot1 G A 11: 80,141,885 (GRCm39) R463H probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Selenom A T 11: 3,464,915 (GRCm39) probably benign Het
Selenop T C 15: 3,308,947 (GRCm39) C300R probably damaging Het
Ss18l1 A G 2: 179,703,706 (GRCm39) N313S unknown Het
Sycp2l A G 13: 41,295,200 (GRCm39) D289G probably damaging Het
Terf1 C T 1: 15,889,221 (GRCm39) H188Y probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Trdn A G 10: 33,181,065 (GRCm39) T357A probably damaging Het
Trip11 A C 12: 101,856,859 (GRCm39) M401R probably benign Het
Ubald2 A C 11: 116,325,211 (GRCm39) D26A probably benign Het
Ube2w C G 1: 16,689,508 (GRCm39) probably benign Het
Vmn2r101 T A 17: 19,811,267 (GRCm39) S450R 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
R1036:Skint1 UTSW 4 111,876,493 (GRCm39) missense possibly damaging 0.71
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
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'- TGCAATTAGAGCCCTTACCTCTTTAG -3'
(R):5'- GTAGAGCTTAAGCAATCAAGTCAAG -3'

Sequencing Primer
(F):5'- GCCATAAACTTACAGGTACAGATTC -3'
(R):5'- GTCAAGGAAGAAAATGAATCATTCTG -3'
Posted On 2018-02-27