Incidental Mutation 'R5777:Skint7'
ID 446751
Institutional Source Beutler Lab
Gene Symbol Skint7
Ensembl Gene ENSMUSG00000049214
Gene Name selection and upkeep of intraepithelial T cells 7
Synonyms C130057D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5777 (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 A at 111845289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 367 (I367N)
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
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 probably benign
Transcript: ENSMUST00000163281
AA Change: I367N

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: I367N

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: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,294,000 (GRCm39) E41G probably benign Het
Amph A T 13: 19,230,186 (GRCm39) N45Y probably damaging Het
Atp11a T A 8: 12,882,522 (GRCm39) L470Q probably damaging Het
C130073F10Rik T A 4: 101,747,946 (GRCm39) Y76F possibly damaging Het
Casp12 A T 9: 5,354,548 (GRCm39) I306F probably benign Het
Cobll1 A T 2: 64,933,612 (GRCm39) M460K probably benign Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Ctdsp1 T C 1: 74,433,227 (GRCm39) V131A probably damaging Het
Ctnna3 A G 10: 64,511,664 (GRCm39) H618R probably benign Het
Dhx38 C A 8: 110,283,534 (GRCm39) V538L possibly damaging Het
Dtwd1 A G 2: 126,001,733 (GRCm39) D151G probably damaging Het
Fbxw28 A G 9: 109,167,604 (GRCm39) L51P probably damaging Het
Gm4781 C T 10: 100,232,831 (GRCm39) noncoding transcript Het
Gm5134 C A 10: 75,840,594 (GRCm39) F479L probably benign Het
H2bc27 A G 11: 58,839,835 (GRCm39) K24E probably benign Het
Hexa T G 9: 59,468,243 (GRCm39) V290G probably damaging Het
Ifi206 C T 1: 173,308,928 (GRCm39) R356K possibly damaging Het
Kcnj12 G A 11: 60,961,277 (GRCm39) R525Q possibly damaging Het
Lrp2 A T 2: 69,285,869 (GRCm39) I3774N probably damaging Het
Msh4 C A 3: 153,569,076 (GRCm39) M832I probably benign Het
Myh10 A G 11: 68,676,685 (GRCm39) E852G probably damaging Het
Ndufaf1 A T 2: 119,490,963 (GRCm39) C32* probably null Het
Nos2 A G 11: 78,830,978 (GRCm39) E387G probably null Het
Or4f58 C T 2: 111,851,876 (GRCm39) G108R probably damaging Het
Or55b10 A G 7: 102,143,178 (GRCm39) V268A probably benign Het
Or5h27 T A 16: 59,006,266 (GRCm39) L193F unknown Het
Or7a36 A C 10: 78,820,512 (GRCm39) D296A possibly damaging Het
Or7g29 A T 9: 19,287,014 (GRCm39) H54Q probably benign Het
Or8j3c A G 2: 86,253,669 (GRCm39) V117A probably benign Het
P3h3 T C 6: 124,832,921 (GRCm39) T211A probably benign Het
Pcdh7 A G 5: 57,876,856 (GRCm39) N137S probably damaging Het
Pgf T C 12: 85,216,148 (GRCm39) T157A possibly damaging Het
Prex1 T C 2: 166,428,579 (GRCm39) D714G probably damaging Het
Scn7a T C 2: 66,522,913 (GRCm39) I930M probably damaging Het
Siglecg T C 7: 43,058,837 (GRCm39) S197P possibly damaging Het
Slfn5 A T 11: 82,851,830 (GRCm39) D652V probably damaging Het
Stx1b G A 7: 127,410,090 (GRCm39) Q3* probably null Het
Tex35 T C 1: 156,934,777 (GRCm39) M46V probably benign Het
Tkt A C 14: 30,280,733 (GRCm39) T55P possibly damaging Het
Trim30c T C 7: 104,032,538 (GRCm39) R263G probably benign Het
U2af2 G A 7: 5,069,450 (GRCm39) R33Q probably benign Het
Washc4 T A 10: 83,391,469 (GRCm39) V182D probably damaging Het
Xirp2 T C 2: 67,340,348 (GRCm39) V863A possibly damaging Het
Zfp976 T G 7: 42,263,504 (GRCm39) H111P probably benign Het
Zfp982 A T 4: 147,595,321 (GRCm39) N48Y 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
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
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'- CATCACAGTACTCAGCGCTAG -3'
(R):5'- TGTCCTTCAAAGGCAAGGTCTC -3'

Sequencing Primer
(F):5'- GCATGGTAGTGCACGCCTTTAATC -3'
(R):5'- CTTCAAAGGCAAGGTCTCATTTTTC -3'
Posted On 2016-12-15