Incidental Mutation 'IGL01890:Skint1'
ID 179224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skint1
Ensembl Gene ENSMUSG00000089773
Gene Name selection and upkeep of intraepithelial T cells 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01890
Quality Score
Status
Chromosome 4
Chromosomal Location 111863466-111886735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111867878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 2 (G2R)
Ref Sequence ENSEMBL: ENSMUSP00000124545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117379] [ENSMUST00000161389] [ENSMUST00000162158] [ENSMUST00000162885]
AlphaFold A7TZE6
Predicted Effect probably damaging
Transcript: ENSMUST00000117379
AA Change: G2R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124545
Gene: ENSMUSG00000089773
AA Change: G2R

DomainStartEndE-ValueType
IGv 44 125 1.88e-8 SMART
Pfam:C2-set_2 142 228 2.5e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143802
Predicted Effect probably damaging
Transcript: ENSMUST00000161389
AA Change: G2R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773
AA Change: G2R

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 damaging
Transcript: ENSMUST00000162158
AA Change: G2R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
AA Change: G2R

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 damaging
Transcript: ENSMUST00000162885
AA Change: G2R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125625
Gene: ENSMUSG00000089773
AA Change: G2R

DomainStartEndE-ValueType
IGv 44 125 1.88e-8 SMART
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,231,642 (GRCm39) V265E probably damaging Het
Anks1b A G 10: 90,480,389 (GRCm39) I865V probably benign Het
Car5a G A 8: 122,650,349 (GRCm39) A182V probably benign Het
Ccdc47 A G 11: 106,096,277 (GRCm39) V249A probably damaging Het
Cyb561d2 A G 9: 107,418,722 (GRCm39) V34A probably damaging Het
Dmbt1 A G 7: 130,676,149 (GRCm39) probably benign Het
Entpd6 G A 2: 150,612,612 (GRCm39) D445N possibly damaging Het
Fastkd2 A G 1: 63,771,320 (GRCm39) I225M probably benign Het
Flcn A G 11: 59,685,996 (GRCm39) V424A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpn3 A G 5: 122,519,328 (GRCm39) M176V probably benign Het
Igkv12-38 C T 6: 69,920,389 (GRCm39) C43Y probably damaging Het
Oas1h A G 5: 121,000,852 (GRCm39) probably null Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Slc4a9 G A 18: 36,662,760 (GRCm39) A172T possibly damaging Het
Synpo2 A G 3: 122,906,146 (GRCm39) S727P probably damaging Het
Tmem131 A T 1: 36,862,237 (GRCm39) probably benign Het
Trpm3 G T 19: 22,689,083 (GRCm39) R4L probably damaging Het
Upf1 A T 8: 70,786,880 (GRCm39) V879E possibly damaging Het
Vmn1r194 A T 13: 22,428,776 (GRCm39) Y131F probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r95 T A 17: 18,671,737 (GRCm39) N491K probably damaging Het
Other mutations in Skint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Skint1 APN 4 111,878,777 (GRCm39) critical splice donor site probably null
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
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
Posted On 2014-05-07