Incidental Mutation 'R5311:Skint7'
ID 404839
Institutional Source Beutler Lab
Gene Symbol Skint7
Ensembl Gene ENSMUSG00000049214
Gene Name selection and upkeep of intraepithelial T cells 7
Synonyms C130057D23Rik
MMRRC Submission 042894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5311 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 111830120-111845420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111837501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 93 (R93H)
Ref Sequence ENSEMBL: ENSMUSP00000127347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055014] [ENSMUST00000106568] [ENSMUST00000163281]
AlphaFold A7XV04
Predicted Effect probably damaging
Transcript: ENSMUST00000055014
AA Change: R93H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: R93H

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 34 141 7.82e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106568
AA Change: R93H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: R93H

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: ENSMUST00000142162
Predicted Effect probably damaging
Transcript: ENSMUST00000163281
AA Change: R93H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: R93H

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 A G 5: 142,453,442 (GRCm39) K137E possibly damaging Het
Atm A C 9: 53,429,923 (GRCm39) V371G probably benign Het
Cacna2d3 A G 14: 29,068,987 (GRCm39) Y247H probably damaging Het
Ccdc180 T C 4: 45,917,556 (GRCm39) V927A probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Edar G A 10: 58,443,257 (GRCm39) P290S possibly damaging Het
Ext2 T C 2: 93,526,606 (GRCm39) I677V probably benign Het
Fam53a A G 5: 33,765,080 (GRCm39) S209P probably damaging Het
Fshr A T 17: 89,318,441 (GRCm39) probably null Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gm14295 A T 2: 176,502,465 (GRCm39) I652L probably benign Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Gm5431 T A 11: 48,779,716 (GRCm39) E402V probably damaging Het
Gm6899 GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC GGAGGCCGCCCAGTGGCAGAGGC 11: 26,543,725 (GRCm39) probably null Het
Itih2 T C 2: 10,115,346 (GRCm39) D342G probably benign Het
Lgi2 A T 5: 52,711,827 (GRCm39) D164E probably damaging Het
Lrriq1 A G 10: 103,050,448 (GRCm39) I768T probably damaging Het
Map1a C A 2: 121,132,868 (GRCm39) A990E probably damaging Het
Mdh1b A G 1: 63,759,163 (GRCm39) V143A probably benign Het
Mrgprb3 C T 7: 48,293,059 (GRCm39) C164Y probably damaging Het
Mtpap T A 18: 4,386,328 (GRCm39) V316E probably damaging Het
Mybpc3 T A 2: 90,959,023 (GRCm39) C655* probably null Het
Myh15 A G 16: 48,986,204 (GRCm39) E1558G possibly damaging Het
Mylk A G 16: 34,742,127 (GRCm39) T880A probably benign Het
Nckap1 T A 2: 80,370,466 (GRCm39) D408V probably damaging Het
Nos3 A T 5: 24,582,343 (GRCm39) H605L probably benign Het
Nrxn2 C A 19: 6,581,428 (GRCm39) D411E probably benign Het
Or1af1 T C 2: 37,109,633 (GRCm39) V44A probably benign Het
Or8j3b T A 2: 86,205,094 (GRCm39) I221L possibly damaging Het
Pde4d C A 13: 109,769,398 (GRCm39) P29T probably benign Het
Pde4d C T 13: 109,769,399 (GRCm39) P29L probably benign Het
Pkhd1 A G 1: 20,636,094 (GRCm39) V412A possibly damaging Het
Rev1 T A 1: 38,118,474 (GRCm39) I480L probably benign Het
Rimbp3 A G 16: 17,028,708 (GRCm39) T711A probably benign Het
RP23-191E1.1 T A 3: 106,204,784 (GRCm39) noncoding transcript Het
Serpina11 A T 12: 103,952,221 (GRCm39) I183N probably damaging Het
Siglec1 T C 2: 130,921,236 (GRCm39) H645R probably damaging Het
Slfn8 T C 11: 82,894,910 (GRCm39) E632G probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Trps1 G A 15: 50,528,156 (GRCm39) T658I probably damaging Het
Ubash3a A G 17: 31,438,691 (GRCm39) T287A probably damaging Het
Ugt2b35 G A 5: 87,159,139 (GRCm39) W444* probably null Het
Vmn1r219 T A 13: 23,347,063 (GRCm39) V84D probably damaging Het
Vmn2r10 T C 5: 109,154,121 (GRCm39) Y61C probably damaging Het
Vmn2r104 G A 17: 20,250,163 (GRCm39) P703S probably damaging Het
Wdsub1 T A 2: 59,708,873 (GRCm39) probably benign Het
Zfp667 A G 7: 6,308,715 (GRCm39) Q461R probably benign Het
Zfp941 C A 7: 140,391,872 (GRCm39) G496* probably null 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
R0315:Skint7 UTSW 4 111,845,315 (GRCm39) missense possibly damaging 0.61
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
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 PCR Primer
(F):5'- GAGAAACTGAGGGTAACTACTCCC -3'
(R):5'- CATTTATTGGGCACAAAGACACTG -3'

Sequencing Primer
(F):5'- CACAAGACACCTGTTAGCTAGAGTAG -3'
(R):5'- TGGTATACTGTGCTCCACAAAC -3'
Posted On 2016-07-22