Incidental Mutation 'R6004:Skint11'
ID478498
Institutional Source Beutler Lab
Gene Symbol Skint11
Ensembl Gene ENSMUSG00000057977
Gene Nameselection and upkeep of intraepithelial T cells 11
SynonymsA630098G03Rik
MMRRC Submission 044182-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R6004 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location114163384-114245028 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114231728 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 240 (T240A)
Ref Sequence ENSEMBL: ENSMUSP00000127138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079915] [ENSMUST00000145797] [ENSMUST00000151810] [ENSMUST00000164297]
Predicted Effect probably benign
Transcript: ENSMUST00000079915
SMART Domains Protein: ENSMUSP00000078836
Gene: ENSMUSG00000057977

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145797
SMART Domains Protein: ENSMUSP00000118895
Gene: ENSMUSG00000057977

DomainStartEndE-ValueType
Pfam:C2-set_2 29 113 6.4e-7 PFAM
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151810
SMART Domains Protein: ENSMUSP00000119157
Gene: ENSMUSG00000057977

DomainStartEndE-ValueType
Pfam:C2-set_2 3 87 6e-7 PFAM
transmembrane domain 112 134 N/A INTRINSIC
transmembrane domain 161 183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164297
AA Change: T240A

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
AA Change: T240A

DomainStartEndE-ValueType
PDB:4F8T|A 19 125 6e-9 PDB
Blast:IG_like 40 119 1e-10 BLAST
transmembrane domain 138 160 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 246 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.1%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 C T 3: 97,175,681 A336V probably benign Het
Adam5 T A 8: 24,781,669 Y574F probably benign Het
Arl6 A T 16: 59,623,894 W80R probably damaging Het
Arntl A T 7: 113,280,727 D22V probably damaging Het
Cars2 A G 8: 11,547,743 I111T probably damaging Het
Chrd T C 16: 20,735,237 L317S possibly damaging Het
Cyp4a12b A G 4: 115,433,467 D262G probably benign Het
Dcaf6 A G 1: 165,388,685 S450P probably benign Het
Dnah3 T C 7: 120,086,297 D164G probably benign Het
Gpx6 A C 13: 21,319,069 T218P probably benign Het
Htr1f T C 16: 64,925,876 N351S probably damaging Het
Idua A G 5: 108,680,644 E241G probably benign Het
Ighv14-2 T A 12: 113,994,635 Q62L probably damaging Het
Ighv1-65 C T 12: 115,532,436 noncoding transcript Het
Inpp4a T C 1: 37,372,370 S372P probably damaging Het
Itgax A T 7: 128,131,452 H114L probably damaging Het
Lama2 A T 10: 27,235,785 F746L probably benign Het
Lrrc37a C T 11: 103,502,536 V688M possibly damaging Het
Ltbp2 A G 12: 84,876,149 V28A probably benign Het
Mill2 A T 7: 18,856,538 D166V probably benign Het
Mroh2a G A 1: 88,248,655 C982Y probably damaging Het
Msh3 T A 13: 92,342,414 probably null Het
Myh15 A T 16: 49,159,699 M1395L probably benign Het
Npepps T C 11: 97,223,124 E642G probably benign Het
Nrg4 T C 9: 55,259,383 T68A possibly damaging Het
Olfr1016 A T 2: 85,799,382 V296E probably damaging Het
Olfr1130 T A 2: 87,607,909 F174I probably damaging Het
Olfr1313 G T 2: 112,072,026 L186I probably damaging Het
Olfr32 T C 2: 90,138,999 N47D probably benign Het
Olfr792 T A 10: 129,540,890 Y118N probably benign Het
Olfr890 A G 9: 38,143,960 K270R probably damaging Het
Otogl T A 10: 107,879,529 I429F probably damaging Het
Pank4 G T 4: 154,977,221 G532C probably damaging Het
Plce1 A G 19: 38,721,871 T1150A probably damaging Het
Ppp2r2b T C 18: 43,059,159 probably null Het
Prkrip1 A G 5: 136,197,782 M68T probably damaging Het
Psme4 T A 11: 30,856,896 probably benign Het
Raet1d T A 10: 22,371,394 I123N probably damaging Het
Rp1 T G 1: 4,197,585 T825P unknown Het
Rttn T C 18: 89,021,692 I839T probably damaging Het
Sgo2b G A 8: 63,926,673 Q1042* probably null Het
Speg A T 1: 75,415,603 K1382* probably null Het
Srsf7 A T 17: 80,205,853 D68E probably damaging Het
Stag3 A T 5: 138,289,206 D131V probably damaging Het
Strip2 T A 6: 29,926,571 C152S probably damaging Het
Timm44 G T 8: 4,267,747 D191E probably benign Het
Tlnrd1 A G 7: 83,882,779 V148A probably damaging Het
Trp63 T C 16: 25,763,396 probably null Het
Tusc3 G C 8: 39,071,406 G200R probably damaging Het
Vmn2r10 T G 5: 108,999,078 N448T probably benign Het
Vmn2r50 G A 7: 10,050,059 R163C probably benign Het
Vmn2r53 T C 7: 12,582,401 H497R probably benign Het
Vps39 A G 2: 120,345,650 V83A possibly damaging Het
Ylpm1 A T 12: 85,029,084 N861I possibly damaging Het
Zfp712 A G 13: 67,041,705 C253R probably damaging Het
Zfp930 A G 8: 69,227,904 T84A probably benign Het
Other mutations in Skint11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Skint11 APN 4 114194709 missense probably benign 0.03
IGL00775:Skint11 APN 4 114194692 missense probably damaging 1.00
IGL02186:Skint11 APN 4 114244636 missense possibly damaging 0.82
IGL02499:Skint11 APN 4 114194604 missense probably benign 0.01
IGL02622:Skint11 APN 4 114194728 missense probably damaging 1.00
IGL03115:Skint11 APN 4 114244623 missense probably damaging 0.99
R0513:Skint11 UTSW 4 114194565 missense probably benign 0.00
R0928:Skint11 UTSW 4 114244601 missense possibly damaging 0.95
R1486:Skint11 UTSW 4 114194818 critical splice donor site probably null
R1508:Skint11 UTSW 4 114231766 critical splice donor site probably null
R1667:Skint11 UTSW 4 114194781 missense probably damaging 0.99
R1807:Skint11 UTSW 4 114194696 missense probably benign 0.08
R2504:Skint11 UTSW 4 114228812 missense possibly damaging 0.55
R4165:Skint11 UTSW 4 114244659 missense probably benign 0.00
R4166:Skint11 UTSW 4 114244659 missense probably benign 0.00
R4231:Skint11 UTSW 4 114244659 missense probably benign 0.00
R4233:Skint11 UTSW 4 114244659 missense probably benign 0.00
R4234:Skint11 UTSW 4 114244659 missense probably benign 0.00
R4236:Skint11 UTSW 4 114244659 missense probably benign 0.00
R4756:Skint11 UTSW 4 114194677 missense probably benign 0.30
R4947:Skint11 UTSW 4 114191510 missense possibly damaging 0.89
R5237:Skint11 UTSW 4 114244845 missense possibly damaging 0.66
R5538:Skint11 UTSW 4 114231762 missense probably damaging 0.99
R5555:Skint11 UTSW 4 114194601 missense probably benign 0.03
R6209:Skint11 UTSW 4 114244710 missense possibly damaging 0.73
R7121:Skint11 UTSW 4 114227796 missense probably benign 0.05
R7208:Skint11 UTSW 4 114231747 missense probably damaging 1.00
R7348:Skint11 UTSW 4 114244722 missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- CTCTGCCCATAAAGGAAGGC -3'
(R):5'- ACCTATAACCCAAGCCTCTATTTTG -3'

Sequencing Primer
(F):5'- ACTCTTACTTGTGGACTAGGGTC -3'
(R):5'- TTGCTCCAATTGCACCAAGTGAAG -3'
Posted On2017-06-26