Incidental Mutation 'R4993:Skint1'
ID 384989
Institutional Source Beutler Lab
Gene Symbol Skint1
Ensembl Gene ENSMUSG00000089773
Gene Name selection and upkeep of intraepithelial T cells 1
Synonyms
MMRRC Submission 042587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4993 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 111863466-111886735 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 111885530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117379] [ENSMUST00000161389] [ENSMUST00000162158]
AlphaFold A7TZE6
Predicted Effect probably benign
Transcript: ENSMUST00000117379
SMART Domains Protein: ENSMUSP00000124545
Gene: ENSMUSG00000089773

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
SMART Domains Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773

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 null
Transcript: ENSMUST00000162158
SMART Domains Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
9130008F23Rik G T 17: 41,191,052 (GRCm39) Q126K probably benign Het
Abca15 C A 7: 120,000,941 (GRCm39) N1492K probably damaging Het
Afap1l2 C T 19: 56,906,472 (GRCm39) D402N probably damaging Het
Akap11 A G 14: 78,750,408 (GRCm39) F660L probably damaging Het
Bcl3 T C 7: 19,554,102 (GRCm39) T89A probably benign Het
Bub1b T C 2: 118,467,251 (GRCm39) I858T possibly damaging Het
Cdk19 A G 10: 40,352,214 (GRCm39) D288G possibly damaging Het
Cyp2d34 T A 15: 82,502,530 (GRCm39) D202V probably damaging Het
Dip2c T G 13: 9,625,259 (GRCm39) Y584* probably null Het
Dpf3 A T 12: 83,378,635 (GRCm39) probably null Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Emid1 G T 11: 5,081,512 (GRCm39) Q212K probably benign Het
Esm1 C T 13: 113,349,933 (GRCm39) Q118* probably null Het
Fahd2a T G 2: 127,278,284 (GRCm39) I308L probably benign Het
Fanci T C 7: 79,085,126 (GRCm39) *851Q probably null Het
Fastkd1 C A 2: 69,533,084 (GRCm39) V428F probably damaging Het
Fat2 A T 11: 55,173,918 (GRCm39) I2265N probably damaging Het
Gale C A 4: 135,694,171 (GRCm39) H191Q probably damaging Het
Ghsr T A 3: 27,426,403 (GRCm39) V153E possibly damaging Het
Gpc6 A G 14: 117,861,951 (GRCm39) N289S possibly damaging Het
Hoxb6 A T 11: 96,191,537 (GRCm39) Y153F probably damaging Het
Ints3 T C 3: 90,322,814 (GRCm39) T139A probably benign Het
Irf2bp2 A G 8: 127,319,410 (GRCm39) S256P probably benign Het
Klf4 G T 4: 55,530,640 (GRCm39) P148Q probably damaging Het
Loxl1 T G 9: 58,219,820 (GRCm39) H117P probably damaging Het
Lpl A G 8: 69,348,445 (GRCm39) K225E probably benign Het
Lrba T A 3: 86,267,344 (GRCm39) V1678D probably damaging Het
Med1 A T 11: 98,054,730 (GRCm39) F398Y probably damaging Het
Mfap2 T C 4: 140,742,889 (GRCm39) *186Q probably null Het
Mfsd3 T C 15: 76,586,182 (GRCm39) L105P probably damaging Het
Mlxip T G 5: 123,533,357 (GRCm39) I122S probably damaging Het
Mmrn2 A T 14: 34,118,355 (GRCm39) Y107F probably damaging Het
Mtg1 G T 7: 139,720,196 (GRCm39) D88Y probably null Het
Mutyh T A 4: 116,675,132 (GRCm39) S426R probably benign Het
Myo16 C T 8: 10,526,094 (GRCm39) T878I probably damaging Het
Myo9a T A 9: 59,768,755 (GRCm39) Y912* probably null Het
Ncor1 A C 11: 62,234,167 (GRCm39) I669R probably damaging Het
Ndufs1 T C 1: 63,202,935 (GRCm39) I210V probably benign Het
Nek9 A G 12: 85,357,194 (GRCm39) C657R probably damaging Het
Noct C T 3: 51,157,442 (GRCm39) T260I probably damaging Het
Nr1h4 A T 10: 89,334,042 (GRCm39) M102K probably benign Het
Obscn G A 11: 59,015,587 (GRCm39) R1054C possibly damaging Het
Or10ag58 T A 2: 87,265,496 (GRCm39) F222I probably benign Het
Or1j20 C A 2: 36,760,000 (GRCm39) Q141K probably benign Het
Or2a57 A G 6: 43,213,390 (GRCm39) M283V possibly damaging Het
Or51ah3 T A 7: 103,210,524 (GRCm39) I280N possibly damaging Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or5p75-ps1 G A 7: 108,107,450 (GRCm39) M62I probably damaging Het
Otol1 C A 3: 69,926,211 (GRCm39) Q129K probably benign Het
Otx1 A T 11: 21,948,532 (GRCm39) probably null Het
Pcdhac2 C A 18: 37,279,304 (GRCm39) N761K probably damaging Het
Pde1c A T 6: 56,127,609 (GRCm39) M452K probably damaging Het
Phkg2 T C 7: 127,173,113 (GRCm39) Y24H probably damaging Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prg4 C T 1: 150,336,432 (GRCm39) C97Y probably damaging Het
Ptdss1 T C 13: 67,093,352 (GRCm39) V64A probably benign Het
Ralgapa2 T C 2: 146,289,231 (GRCm39) K324E probably damaging Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Riiad1 T C 3: 94,380,170 (GRCm39) T42A probably benign Het
Rims2 T C 15: 39,317,841 (GRCm39) V640A possibly damaging Het
Rnpep G T 1: 135,190,770 (GRCm39) S592Y possibly damaging Het
Scap T C 9: 110,207,458 (GRCm39) L431P probably damaging Het
Siglec1 T A 2: 130,915,281 (GRCm39) I1437F possibly damaging Het
Skic3 T A 13: 76,331,055 (GRCm39) M1495K probably damaging Het
Slc44a1 A G 4: 53,543,644 (GRCm39) E396G probably damaging Het
Slc4a2 T C 5: 24,639,867 (GRCm39) F521S probably damaging Het
Smarcc1 T A 9: 110,004,129 (GRCm39) S394R probably damaging Het
Socs1 A G 16: 10,602,549 (GRCm39) S63P probably benign Het
Spopfm2 C T 3: 94,083,623 (GRCm39) G63R probably damaging Het
Sun1 T G 5: 139,211,088 (GRCm39) S20A possibly damaging Het
Tac4 A T 11: 95,156,068 (GRCm39) K50* probably null Het
Tasor T A 14: 27,151,071 (GRCm39) W16R possibly damaging Het
Tcaf2 A G 6: 42,619,574 (GRCm39) I151T probably damaging Het
Tcf4 T C 18: 69,814,840 (GRCm39) V587A probably damaging Het
Ttn T A 2: 76,571,253 (GRCm39) K24801* probably null Het
Tuba3b G T 6: 145,566,999 (GRCm39) M413I possibly damaging Het
Ufl1 C T 4: 25,267,832 (GRCm39) A280T possibly damaging Het
Ugt2b5 T A 5: 87,287,532 (GRCm39) I212L probably benign Het
Umodl1 A G 17: 31,205,459 (GRCm39) T685A probably benign Het
Uqcrc1 T A 9: 108,773,878 (GRCm39) V183D probably damaging Het
Ush2a A G 1: 188,642,917 (GRCm39) N4093S probably benign Het
Vmn1r167 C T 7: 23,204,653 (GRCm39) S121N probably damaging Het
Vmn1r47 A G 6: 89,999,740 (GRCm39) S291G possibly damaging Het
Vmn2r108 A G 17: 20,701,449 (GRCm39) V17A probably benign Het
Vmn2r58 T A 7: 41,487,176 (GRCm39) H573L probably benign Het
Xirp1 C T 9: 119,847,858 (GRCm39) V342I probably damaging Het
Zfp462 A G 4: 55,051,204 (GRCm39) M2226V possibly damaging Het
Zfp467 G A 6: 48,415,963 (GRCm39) H230Y probably damaging Het
Zfp595 T A 13: 67,464,465 (GRCm39) K599N probably damaging Het
Zfp819 C A 7: 43,266,720 (GRCm39) T401K 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
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'- TGACATCAGATTATAGCTCCTGC -3'
(R):5'- GCTCAAGTTTGTGAATTCTGCATTG -3'

Sequencing Primer
(F):5'- CTCCAGTTTGTAAGTGGAAG -3'
(R):5'- TGCTATAGAGAATTACCCCATCTTC -3'
Posted On 2016-05-10