Incidental Mutation 'R2005:Skint7'
ID 225346
Institutional Source Beutler Lab
Gene Symbol Skint7
Ensembl Gene ENSMUSG00000049214
Gene Name selection and upkeep of intraepithelial T cells 7
Synonyms C130057D23Rik
MMRRC Submission 040014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2005 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 111830120-111845420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111842047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 305 (I305T)
Ref Sequence ENSEMBL: ENSMUSP00000127347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055014] [ENSMUST00000106568] [ENSMUST00000163281]
AlphaFold A7XV04
Predicted Effect probably benign
Transcript: ENSMUST00000055014
SMART Domains Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 34 141 7.82e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106568
AA Change: I305T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: I305T

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 probably benign
Transcript: ENSMUST00000163281
AA Change: I305T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: I305T

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,841,562 (GRCm39) A961V probably benign Het
Adcy10 A G 1: 165,352,591 (GRCm39) Y475C probably benign Het
Adgrb3 T C 1: 25,150,799 (GRCm39) M1145V probably benign Het
Akr1c21 A G 13: 4,624,214 (GRCm39) T23A probably damaging Het
Ankrd33b A T 15: 31,297,814 (GRCm39) S314R probably damaging Het
Apc T C 18: 34,443,962 (GRCm39) probably null Het
Atg9a T A 1: 75,162,635 (GRCm39) Q460L probably benign Het
Birc2 C T 9: 7,860,342 (GRCm39) C292Y probably damaging Het
Capn5 T C 7: 97,778,570 (GRCm39) I350V probably benign Het
Cc2d2a G A 5: 43,883,715 (GRCm39) probably null Het
Cdh22 T A 2: 165,022,843 (GRCm39) E76V probably damaging Het
Cdh8 T C 8: 99,760,103 (GRCm39) probably null Het
Cdkn1b ATTCTTCTTC ATTCTTCTTCTTC 6: 134,898,919 (GRCm39) probably benign Het
Cfap54 T A 10: 92,720,630 (GRCm39) D2608V unknown Het
Crebrf T C 17: 26,961,857 (GRCm39) V318A possibly damaging Het
Cwf19l2 A T 9: 3,430,720 (GRCm39) N351Y possibly damaging Het
Cyp2c67 A T 19: 39,631,789 (GRCm39) M136K probably damaging Het
Ddx10 A G 9: 53,151,775 (GRCm39) probably null Het
Ddx47 A G 6: 134,995,084 (GRCm39) N92S probably benign Het
Ddx50 T A 10: 62,476,243 (GRCm39) H306L probably benign Het
Dnajc27 A G 12: 4,147,317 (GRCm39) T167A possibly damaging Het
Dscam T G 16: 96,840,120 (GRCm39) K162N probably benign Het
Eif4h G A 5: 134,656,531 (GRCm39) T53I probably benign Het
Elmo2 T C 2: 165,140,199 (GRCm39) N332S probably benign Het
Ergic3 A G 2: 155,853,028 (GRCm39) N157S possibly damaging Het
F2rl1 G T 13: 95,649,782 (GRCm39) R367S probably damaging Het
Fbxo36 G A 1: 84,877,790 (GRCm39) A151T probably benign Het
Foxf2 G T 13: 31,810,124 (GRCm39) R21L unknown Het
Gmip T A 8: 70,266,693 (GRCm39) H269Q probably benign Het
Gng4 T A 13: 13,980,751 (GRCm39) V32E probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Helz2 C T 2: 180,873,122 (GRCm39) R2396H probably benign Het
Icosl A T 10: 77,907,787 (GRCm39) M116L possibly damaging Het
Itgb3bp A C 4: 99,702,295 (GRCm39) N16K probably benign Het
Kcnt2 A G 1: 140,480,756 (GRCm39) M824V probably damaging Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mmp25 G A 17: 23,859,216 (GRCm39) R144W probably damaging Het
Mmrn1 A T 6: 60,953,068 (GRCm39) I450F possibly damaging Het
Mroh2b A T 15: 4,946,640 (GRCm39) K480M probably damaging Het
Nbn T A 4: 15,979,351 (GRCm39) D445E probably benign Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Or10ag56 T A 2: 87,139,792 (GRCm39) S240T probably benign Het
Or1e19 A T 11: 73,316,065 (GRCm39) V248E probably damaging Het
Or5d38 A G 2: 87,954,891 (GRCm39) L146P probably damaging Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Pard3b A T 1: 62,184,050 (GRCm39) E183D probably benign Het
Pde10a G A 17: 9,147,923 (GRCm39) probably null Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Prdm13 T C 4: 21,685,695 (GRCm39) probably benign Het
Rc3h2 T A 2: 37,279,765 (GRCm39) K461* probably null Het
Reep2 C T 18: 34,978,674 (GRCm39) T117M probably damaging Het
Rhbdd1 A G 1: 82,318,531 (GRCm39) N138S probably benign Het
Rnf19a A T 15: 36,241,916 (GRCm39) F708I possibly damaging Het
Robo2 G A 16: 73,730,003 (GRCm39) H1069Y possibly damaging Het
Rpl9 C T 5: 65,546,878 (GRCm39) V112I probably benign Het
Sec16a A C 2: 26,329,092 (GRCm39) S974R probably benign Het
Sfrp5 A G 19: 42,187,275 (GRCm39) M265T probably benign Het
Slc6a7 T C 18: 61,134,713 (GRCm39) D454G possibly damaging Het
Slco6c1 A G 1: 97,009,214 (GRCm39) I407T probably damaging Het
Slfn8 A T 11: 82,894,976 (GRCm39) M610K probably damaging Het
Spidr A G 16: 15,865,913 (GRCm39) S299P probably damaging Het
Sptbn4 C T 7: 27,065,844 (GRCm39) W2034* probably null Het
Stard9 T A 2: 120,495,426 (GRCm39) F100L possibly damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stc1 T C 14: 69,269,096 (GRCm39) probably null Het
Sun2 T C 15: 79,610,825 (GRCm39) E667G possibly damaging Het
Tacc2 T C 7: 130,333,280 (GRCm39) S511P probably damaging Het
Tasp1 T G 2: 139,819,598 (GRCm39) K202Q probably damaging Het
Tdrd6 A G 17: 43,939,546 (GRCm39) F501L probably damaging Het
Tgds A G 14: 118,368,068 (GRCm39) V35A possibly damaging Het
Tubgcp6 G A 15: 88,988,369 (GRCm39) T860I probably benign Het
Twf1 C T 15: 94,483,328 (GRCm39) probably null Het
Vangl1 A G 3: 102,070,782 (GRCm39) S385P probably benign Het
Vmn2r117 A G 17: 23,696,618 (GRCm39) I263T probably damaging Het
Washc5 A G 15: 59,213,004 (GRCm39) L892P possibly damaging Het
Wnk4 T C 11: 101,154,716 (GRCm39) C302R probably damaging Het
Zfp395 A G 14: 65,626,334 (GRCm39) E191G possibly damaging Het
Zkscan17 A G 11: 59,383,042 (GRCm39) L302P 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
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
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 PCR Primer
(F):5'- GGCATGAGATAGAAGTTAGTTGCC -3'
(R):5'- TGGAATCAATGAGAGCAGCTCC -3'

Sequencing Primer
(F):5'- ATGAGATAGAAGTTAGTTGCCTGTAG -3'
(R):5'- AATGAGAGCAGCTCCAGTCCTTG -3'
Posted On 2014-08-25