Incidental Mutation 'R0625:Skint2'
ID 57406
Institutional Source Beutler Lab
Gene Symbol Skint2
Ensembl Gene ENSMUSG00000034359
Gene Name selection and upkeep of intraepithelial T cells 2
Synonyms B7S3, OTTMUSG00000008540
MMRRC Submission 038814-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0625 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 112557194-112652248 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112624086 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 49 (S49T)
Ref Sequence ENSEMBL: ENSMUSP00000139831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058791] [ENSMUST00000106560] [ENSMUST00000186969]
AlphaFold A7XUX6
Predicted Effect probably damaging
Transcript: ENSMUST00000058791
AA Change: S49T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: S49T

DomainStartEndE-ValueType
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 140 225 2.7e-10 PFAM
Pfam:Ig_2 153 231 3.6e-3 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106559
SMART Domains Protein: ENSMUSP00000102169
Gene: ENSMUSG00000034359

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 146 225 5.2e-8 PFAM
transmembrane domain 241 263 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106560
AA Change: S49T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: S49T

DomainStartEndE-ValueType
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 145 225 1.3e-10 PFAM
Pfam:Ig_2 153 231 2e-3 PFAM
transmembrane domain 241 263 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186969
AA Change: S49T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: S49T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 145 225 2e-10 PFAM
Pfam:Ig_2 154 231 1.7e-3 PFAM
transmembrane domain 241 263 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
transmembrane domain 322 344 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,408,065 (GRCm38) S2P probably benign Het
Abca16 A C 7: 120,435,893 (GRCm38) T301P probably damaging Het
Acer2 A G 4: 86,887,162 (GRCm38) D121G possibly damaging Het
Adgrd1 T C 5: 129,171,931 (GRCm38) probably null Het
Arhgap11a T C 2: 113,841,711 (GRCm38) I249V probably benign Het
Arhgap22 A G 14: 33,366,714 (GRCm38) E219G probably benign Het
C2cd4b T A 9: 67,759,751 (GRCm38) S10T probably benign Het
Cnot6 A T 11: 49,683,171 (GRCm38) I224N probably damaging Het
Ctrc T C 4: 141,841,518 (GRCm38) T125A probably damaging Het
Cxxc5 T G 18: 35,858,589 (GRCm38) S14R unknown Het
Cyp4f37 T G 17: 32,634,678 (GRCm38) F445L probably damaging Het
Dcbld1 T G 10: 52,312,850 (GRCm38) I186S probably benign Het
Dmxl2 T C 9: 54,382,702 (GRCm38) T2510A probably benign Het
Dnah3 A G 7: 120,071,887 (GRCm38) I591T possibly damaging Het
Dock5 A T 14: 67,841,163 (GRCm38) I204N probably benign Het
Dysf G A 6: 84,111,987 (GRCm38) probably null Het
Erich5 A G 15: 34,471,369 (GRCm38) E248G probably damaging Het
Fam160a1 A G 3: 85,730,500 (GRCm38) V164A possibly damaging Het
Foxm1 A G 6: 128,373,871 (GRCm38) S712G probably damaging Het
Frmpd1 A G 4: 45,284,055 (GRCm38) T959A probably benign Het
Gfra4 C T 2: 131,040,256 (GRCm38) V277I probably null Het
Hacd4 T C 4: 88,435,010 (GRCm38) I82V probably benign Het
Itih2 C T 2: 10,123,414 (GRCm38) V159I possibly damaging Het
Itpr2 T A 6: 146,166,651 (GRCm38) M2410L probably benign Het
March11 A G 15: 26,311,043 (GRCm38) I202V probably damaging Het
March3 A G 18: 56,811,830 (GRCm38) probably null Het
Med12l G A 3: 59,247,437 (GRCm38) E1135K probably damaging Het
Mib2 C T 4: 155,659,460 (GRCm38) G42S probably damaging Het
Mlx T C 11: 101,087,782 (GRCm38) L78P possibly damaging Het
Muc5b T C 7: 141,846,427 (GRCm38) C473R unknown Het
N4bp2l1 T A 5: 150,576,745 (GRCm38) R66* probably null Het
Nes A G 3: 87,977,172 (GRCm38) T913A possibly damaging Het
Oas1a T C 5: 120,899,259 (GRCm38) E235G probably damaging Het
Olfr1104 T A 2: 87,021,620 (GRCm38) H308L probably benign Het
Olfr477 T C 7: 107,991,189 (GRCm38) S275P probably damaging Het
Olfr905 T C 9: 38,473,208 (GRCm38) S154P possibly damaging Het
Parn C T 16: 13,640,294 (GRCm38) V286I probably benign Het
Paxip1 G A 5: 27,765,942 (GRCm38) Q470* probably null Het
Phc2 C G 4: 128,723,710 (GRCm38) H510D possibly damaging Het
Pla2g4f T A 2: 120,305,041 (GRCm38) D384V probably damaging Het
Plpbp A T 8: 27,045,131 (GRCm38) N68I probably damaging Het
Podxl2 G A 6: 88,849,955 (GRCm38) A123V possibly damaging Het
Pole A T 5: 110,325,550 (GRCm38) T1737S possibly damaging Het
Ppp3cc T C 14: 70,225,027 (GRCm38) E396G probably damaging Het
Pramel7 T A 2: 87,491,008 (GRCm38) I228F probably benign Het
Prl7d1 A T 13: 27,710,140 (GRCm38) C149S probably benign Het
Qtrt1 G T 9: 21,418,288 (GRCm38) M217I probably benign Het
Sec24a T A 11: 51,729,454 (GRCm38) D456V probably damaging Het
Shox2 T G 3: 66,981,544 (GRCm38) probably null Het
Smarca5 A G 8: 80,720,686 (GRCm38) probably null Het
Sorcs2 T A 5: 36,024,572 (GRCm38) D1068V possibly damaging Het
Tmem114 T C 16: 8,412,102 (GRCm38) probably null Het
Ttc7b T A 12: 100,355,046 (GRCm38) M24L probably benign Het
Ttll3 A G 6: 113,408,903 (GRCm38) probably null Het
Usp7 C T 16: 8,704,982 (GRCm38) D102N probably benign Het
Other mutations in Skint2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Skint2 APN 4 112,624,212 (GRCm38) missense probably damaging 1.00
IGL00801:Skint2 APN 4 112,625,991 (GRCm38) missense possibly damaging 0.88
IGL01602:Skint2 APN 4 112,625,994 (GRCm38) missense probably benign 0.44
IGL01605:Skint2 APN 4 112,625,994 (GRCm38) missense probably benign 0.44
IGL02015:Skint2 APN 4 112,624,128 (GRCm38) nonsense probably null
IGL02694:Skint2 APN 4 112,616,595 (GRCm38) splice site probably benign
IGL03247:Skint2 APN 4 112,626,026 (GRCm38) missense probably benign 0.06
PIT4677001:Skint2 UTSW 4 112,625,938 (GRCm38) missense probably benign 0.10
R0054:Skint2 UTSW 4 112,645,463 (GRCm38) missense probably benign 0.15
R0054:Skint2 UTSW 4 112,645,463 (GRCm38) missense probably benign 0.15
R0190:Skint2 UTSW 4 112,616,532 (GRCm38) missense possibly damaging 0.85
R0479:Skint2 UTSW 4 112,624,041 (GRCm38) missense possibly damaging 0.47
R1143:Skint2 UTSW 4 112,625,936 (GRCm38) missense probably benign 0.00
R1564:Skint2 UTSW 4 112,625,998 (GRCm38) missense probably damaging 1.00
R1861:Skint2 UTSW 4 112,647,118 (GRCm38) intron probably benign
R1864:Skint2 UTSW 4 112,625,909 (GRCm38) missense probably benign 0.10
R3079:Skint2 UTSW 4 112,639,673 (GRCm38) missense probably benign 0.01
R3891:Skint2 UTSW 4 112,624,186 (GRCm38) missense probably damaging 1.00
R4422:Skint2 UTSW 4 112,584,588 (GRCm38) intron probably benign
R4799:Skint2 UTSW 4 112,652,108 (GRCm38) missense probably benign 0.07
R5458:Skint2 UTSW 4 112,624,180 (GRCm38) missense possibly damaging 0.83
R5482:Skint2 UTSW 4 112,625,879 (GRCm38) missense probably damaging 1.00
R5603:Skint2 UTSW 4 112,649,764 (GRCm38) missense possibly damaging 0.91
R7068:Skint2 UTSW 4 112,624,351 (GRCm38) missense probably damaging 1.00
R7233:Skint2 UTSW 4 112,625,925 (GRCm38) missense probably damaging 0.99
R7335:Skint2 UTSW 4 112,624,218 (GRCm38) missense probably damaging 1.00
R7516:Skint2 UTSW 4 112,625,971 (GRCm38) missense probably damaging 1.00
R7790:Skint2 UTSW 4 112,616,554 (GRCm38) missense possibly damaging 0.71
R7878:Skint2 UTSW 4 112,649,745 (GRCm38) missense possibly damaging 0.85
R7941:Skint2 UTSW 4 112,625,990 (GRCm38) missense probably damaging 1.00
R7965:Skint2 UTSW 4 112,645,451 (GRCm38) missense probably benign 0.17
R7976:Skint2 UTSW 4 112,624,132 (GRCm38) missense probably damaging 1.00
R8100:Skint2 UTSW 4 112,626,000 (GRCm38) missense probably damaging 0.99
R9014:Skint2 UTSW 4 112,625,829 (GRCm38) missense probably benign 0.00
R9114:Skint2 UTSW 4 112,639,637 (GRCm38) missense probably benign 0.00
R9228:Skint2 UTSW 4 112,625,842 (GRCm38) missense possibly damaging 0.88
R9245:Skint2 UTSW 4 112,645,419 (GRCm38) missense probably benign
R9336:Skint2 UTSW 4 112,625,857 (GRCm38) missense probably benign 0.02
R9370:Skint2 UTSW 4 112,624,062 (GRCm38) missense possibly damaging 0.87
R9606:Skint2 UTSW 4 112,625,950 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCTTGAAGTGTCTCAGCACCTGC -3'
(R):5'- GATCCATGCCTACCTGTGACCTTG -3'

Sequencing Primer
(F):5'- CAGCACCTGCAATTGTTCCT -3'
(R):5'- GTGGTATGACCCATCATCATCAG -3'
Posted On 2013-07-11