Incidental Mutation 'R0315:Skint7'
ID 25399
Institutional Source Beutler Lab
Gene Symbol Skint7
Ensembl Gene ENSMUSG00000049214
Gene Name selection and upkeep of intraepithelial T cells 7
Synonyms C130057D23Rik
MMRRC Submission 038525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R0315 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 111830120-111845420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111845315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 376 (A376T)
Ref Sequence ENSEMBL: ENSMUSP00000127347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106568] [ENSMUST00000163281]
AlphaFold A7XV04
Predicted Effect probably benign
Transcript: ENSMUST00000106568
SMART Domains Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 34 141 7.82e-6 SMART
transmembrane domain 250 272 N/A INTRINSIC
transmembrane domain 287 309 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142162
Predicted Effect possibly damaging
Transcript: ENSMUST00000163281
AA Change: A376T

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: A376T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 34 141 7.82e-6 SMART
transmembrane domain 250 272 N/A INTRINSIC
transmembrane domain 285 307 N/A INTRINSIC
transmembrane domain 327 349 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.9%
  • 20x: 88.9%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,826,378 (GRCm39) R409Q possibly damaging Het
Ank3 A T 10: 69,838,347 (GRCm39) Q825L probably damaging Het
Ap1g1 A G 8: 110,545,667 (GRCm39) I107V probably benign Het
Bub1b A T 2: 118,457,457 (GRCm39) probably benign Het
Cd86 C T 16: 36,441,306 (GRCm39) V54I possibly damaging Het
Dpys T G 15: 39,720,734 (GRCm39) I9L probably benign Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Flg2 G T 3: 93,122,029 (GRCm39) G1400C unknown Het
Gm28042 T C 2: 119,869,538 (GRCm39) L634P probably damaging Het
Gm6712 G A 17: 17,536,380 (GRCm39) noncoding transcript Het
Gpbp1 T G 13: 111,573,072 (GRCm39) E360A possibly damaging Het
Hmgn1 A C 16: 95,926,017 (GRCm39) I52R probably benign Het
Ing2 A C 8: 48,122,125 (GRCm39) M141R probably benign Het
Klhl2 A T 8: 65,196,053 (GRCm39) Y563* probably null Het
Lrrc9 A G 12: 72,502,802 (GRCm39) T258A probably damaging Het
Map1b A T 13: 99,567,624 (GRCm39) I1699N unknown Het
Map2k5 A T 9: 63,210,433 (GRCm39) H185Q probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mroh1 C T 15: 76,311,800 (GRCm39) A511V possibly damaging Het
Nop53 T C 7: 15,679,235 (GRCm39) D90G probably damaging Het
Or10k2 T C 8: 84,268,001 (GRCm39) V76A possibly damaging Het
Or5b97 A T 19: 12,878,598 (GRCm39) V182D possibly damaging Het
Or5w20 A T 2: 87,727,410 (GRCm39) Y289F probably damaging Het
Or6c209 T A 10: 129,483,366 (GRCm39) I123N probably damaging Het
Pkd2 T A 5: 104,607,716 (GRCm39) S72T possibly damaging Het
Prc1 T C 7: 79,963,284 (GRCm39) S587P probably damaging Het
Rdh7 G T 10: 127,724,265 (GRCm39) T73K possibly damaging Het
Runx1 T C 16: 92,402,655 (GRCm39) N429S probably damaging Het
Slc16a14 T C 1: 84,890,217 (GRCm39) I363V possibly damaging Het
Smarcal1 C T 1: 72,634,970 (GRCm39) Q350* probably null Het
Soat1 T A 1: 156,268,083 (GRCm39) K275* probably null Het
Speg T C 1: 75,391,780 (GRCm39) V1571A possibly damaging Het
Stat5b G C 11: 100,679,286 (GRCm39) D605E probably benign Het
Susd4 G A 1: 182,686,077 (GRCm39) R209H probably benign Het
Tlr1 T G 5: 65,084,271 (GRCm39) D102A probably damaging Het
Tm4sf5 A G 11: 70,401,462 (GRCm39) N154D probably damaging Het
Tmigd3 T A 3: 105,824,085 (GRCm39) M18K probably damaging Het
Ube2h A T 6: 30,241,412 (GRCm39) V86E probably damaging Het
Utp20 A G 10: 88,643,283 (GRCm39) L613P probably damaging Het
Vmn2r117 G A 17: 23,679,139 (GRCm39) S695L probably benign Het
Washc5 T C 15: 59,213,825 (GRCm39) D427G probably damaging Het
Zfp462 T A 4: 55,079,314 (GRCm39) F2403I probably damaging Het
Other mutations in Skint7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Skint7 APN 4 111,839,402 (GRCm39) missense probably damaging 1.00
IGL01697:Skint7 APN 4 111,837,654 (GRCm39) splice site probably benign
IGL01961:Skint7 APN 4 111,834,660 (GRCm39) missense probably benign 0.01
IGL02232:Skint7 APN 4 111,839,225 (GRCm39) missense possibly damaging 0.70
IGL02675:Skint7 APN 4 111,839,178 (GRCm39) missense probably benign 0.03
IGL02729:Skint7 APN 4 111,839,367 (GRCm39) missense probably benign 0.01
IGL02887:Skint7 APN 4 111,839,375 (GRCm39) missense possibly damaging 0.70
Fraction UTSW 4 111,837,375 (GRCm39) missense probably damaging 0.99
ratio UTSW 4 111,842,073 (GRCm39) splice site probably null
R0401:Skint7 UTSW 4 111,837,559 (GRCm39) missense probably damaging 0.96
R0545:Skint7 UTSW 4 111,837,395 (GRCm39) missense probably benign 0.08
R0607:Skint7 UTSW 4 111,834,656 (GRCm39) nonsense probably null
R0685:Skint7 UTSW 4 111,837,542 (GRCm39) missense possibly damaging 0.71
R1130:Skint7 UTSW 4 111,841,355 (GRCm39) missense probably benign 0.23
R1340:Skint7 UTSW 4 111,837,416 (GRCm39) missense probably damaging 1.00
R1350:Skint7 UTSW 4 111,837,521 (GRCm39) missense possibly damaging 0.78
R1764:Skint7 UTSW 4 111,839,270 (GRCm39) missense probably benign 0.00
R1804:Skint7 UTSW 4 111,839,209 (GRCm39) missense probably damaging 1.00
R2005:Skint7 UTSW 4 111,842,047 (GRCm39) missense probably benign 0.13
R2084:Skint7 UTSW 4 111,837,375 (GRCm39) missense probably damaging 0.99
R4651:Skint7 UTSW 4 111,839,309 (GRCm39) missense probably damaging 1.00
R4652:Skint7 UTSW 4 111,839,309 (GRCm39) missense probably damaging 1.00
R5070:Skint7 UTSW 4 111,841,331 (GRCm39) missense probably damaging 1.00
R5088:Skint7 UTSW 4 111,837,627 (GRCm39) missense possibly damaging 0.78
R5096:Skint7 UTSW 4 111,839,152 (GRCm39) missense probably damaging 0.98
R5311:Skint7 UTSW 4 111,837,501 (GRCm39) missense probably damaging 0.99
R5524:Skint7 UTSW 4 111,837,546 (GRCm39) missense probably damaging 1.00
R5777:Skint7 UTSW 4 111,845,289 (GRCm39) missense probably benign 0.29
R6208:Skint7 UTSW 4 111,842,073 (GRCm39) splice site probably null
R6369:Skint7 UTSW 4 111,837,490 (GRCm39) missense probably benign 0.16
R6752:Skint7 UTSW 4 111,837,463 (GRCm39) missense probably benign 0.21
R7396:Skint7 UTSW 4 111,845,324 (GRCm39) missense probably benign
R7633:Skint7 UTSW 4 111,841,337 (GRCm39) missense probably benign 0.27
R7840:Skint7 UTSW 4 111,839,423 (GRCm39) missense probably benign
R8054:Skint7 UTSW 4 111,839,426 (GRCm39) missense probably benign
R8253:Skint7 UTSW 4 111,834,675 (GRCm39) nonsense probably null
R8840:Skint7 UTSW 4 111,845,183 (GRCm39) missense probably benign
R8946:Skint7 UTSW 4 111,839,198 (GRCm39) missense possibly damaging 0.52
Z1176:Skint7 UTSW 4 111,837,326 (GRCm39) missense probably benign 0.01
Z1177:Skint7 UTSW 4 111,837,432 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-04-16