Incidental Mutation 'R4233:Skint11'
ID 320951
Institutional Source Beutler Lab
Gene Symbol Skint11
Ensembl Gene ENSMUSG00000057977
Gene Name selection and upkeep of intraepithelial T cells 11
Synonyms A630098G03Rik
MMRRC Submission 041642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4233 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 114020581-114102225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114101856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 99 (Q99K)
Ref Sequence ENSEMBL: ENSMUSP00000078836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079915] [ENSMUST00000164297]
AlphaFold A7XV14
Predicted Effect probably benign
Transcript: ENSMUST00000079915
AA Change: Q99K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000078836
Gene: ENSMUSG00000057977
AA Change: Q99K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164297
AA Change: Q290K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
AA Change: Q290K

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,454 (GRCm39) Y96N probably damaging Het
Abca15 C T 7: 120,002,202 (GRCm39) Q1572* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aph1c A G 9: 66,740,603 (GRCm39) F41S probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Arhgef40 T C 14: 52,227,628 (GRCm39) V458A possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Ccar2 T C 14: 70,388,540 (GRCm39) T169A possibly damaging Het
Cfap58 G A 19: 47,963,994 (GRCm39) V541M possibly damaging Het
Coro2b T C 9: 62,333,467 (GRCm39) E376G possibly damaging Het
Dnah11 T C 12: 117,880,526 (GRCm39) T3865A probably damaging Het
Dync2h1 T C 9: 7,134,360 (GRCm39) E1549G probably benign Het
Ercc6l2 T C 13: 64,019,982 (GRCm39) probably benign Het
Fbxo32 G T 15: 58,055,729 (GRCm39) T135K possibly damaging Het
Fhip2b A C 14: 70,824,318 (GRCm39) V473G probably damaging Het
Fras1 A T 5: 96,862,235 (GRCm39) I2205F possibly damaging Het
Gm12034 A G 11: 20,396,785 (GRCm39) noncoding transcript Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Gm5108 C A 5: 68,132,496 (GRCm39) T55K unknown Het
Gpa33 A T 1: 165,974,340 (GRCm39) D59V probably damaging Het
Gpn2 T A 4: 133,312,016 (GRCm39) Y83N probably damaging Het
Gzf1 C T 2: 148,528,453 (GRCm39) P460S possibly damaging Het
Ifi203 A T 1: 173,764,099 (GRCm39) S124R possibly damaging Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ldlrap1 T A 4: 134,484,649 (GRCm39) probably null Het
Madd T C 2: 91,008,581 (GRCm39) E107G probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or52n4 A G 7: 104,294,195 (GRCm39) V126A probably benign Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A T 1: 97,792,119 (GRCm39) V434D possibly damaging Het
Plxnd1 T C 6: 115,942,914 (GRCm39) N1257D probably benign Het
Prkdc C T 16: 15,653,783 (GRCm39) A3870V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 T C 13: 11,765,611 (GRCm39) D1375G probably benign Het
Slc13a2 A G 11: 78,294,361 (GRCm39) probably benign Het
Slc7a13 T C 4: 19,819,070 (GRCm39) F90S probably damaging Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Stard13 A G 5: 150,986,164 (GRCm39) S331P probably benign Het
Sult2a8 T A 7: 14,147,608 (GRCm39) I228L probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tshz1 C A 18: 84,034,320 (GRCm39) E29D probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null Het
Other mutations in Skint11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Skint11 APN 4 114,051,906 (GRCm39) missense probably benign 0.03
IGL00775:Skint11 APN 4 114,051,889 (GRCm39) missense probably damaging 1.00
IGL02186:Skint11 APN 4 114,101,833 (GRCm39) missense possibly damaging 0.82
IGL02499:Skint11 APN 4 114,051,801 (GRCm39) missense probably benign 0.01
IGL02622:Skint11 APN 4 114,051,925 (GRCm39) missense probably damaging 1.00
IGL03115:Skint11 APN 4 114,101,820 (GRCm39) missense probably damaging 0.99
R0513:Skint11 UTSW 4 114,051,762 (GRCm39) missense probably benign 0.00
R0928:Skint11 UTSW 4 114,101,798 (GRCm39) missense possibly damaging 0.95
R1486:Skint11 UTSW 4 114,052,015 (GRCm39) critical splice donor site probably null
R1508:Skint11 UTSW 4 114,088,963 (GRCm39) critical splice donor site probably null
R1667:Skint11 UTSW 4 114,051,978 (GRCm39) missense probably damaging 0.99
R1807:Skint11 UTSW 4 114,051,893 (GRCm39) missense probably benign 0.08
R2504:Skint11 UTSW 4 114,086,009 (GRCm39) missense possibly damaging 0.55
R4165:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4166:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4231:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4234:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4236:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4756:Skint11 UTSW 4 114,051,874 (GRCm39) missense probably benign 0.30
R4947:Skint11 UTSW 4 114,048,707 (GRCm39) missense possibly damaging 0.89
R5237:Skint11 UTSW 4 114,102,042 (GRCm39) missense possibly damaging 0.66
R5538:Skint11 UTSW 4 114,088,959 (GRCm39) missense probably damaging 0.99
R5555:Skint11 UTSW 4 114,051,798 (GRCm39) missense probably benign 0.03
R6004:Skint11 UTSW 4 114,088,925 (GRCm39) missense probably benign 0.37
R6209:Skint11 UTSW 4 114,101,907 (GRCm39) missense possibly damaging 0.73
R7121:Skint11 UTSW 4 114,084,993 (GRCm39) missense probably benign 0.05
R7208:Skint11 UTSW 4 114,088,944 (GRCm39) missense probably damaging 1.00
R7348:Skint11 UTSW 4 114,101,919 (GRCm39) missense probably benign 0.15
R7763:Skint11 UTSW 4 114,084,905 (GRCm39) missense probably benign 0.00
R7842:Skint11 UTSW 4 114,101,968 (GRCm39) missense possibly damaging 0.83
R7846:Skint11 UTSW 4 114,102,076 (GRCm39) missense possibly damaging 0.92
R8054:Skint11 UTSW 4 114,101,806 (GRCm39) missense possibly damaging 0.55
R8710:Skint11 UTSW 4 114,051,951 (GRCm39) missense probably benign 0.10
R8742:Skint11 UTSW 4 114,051,922 (GRCm39) missense probably damaging 0.98
Z1176:Skint11 UTSW 4 114,088,878 (GRCm39) missense probably damaging 0.96
Z1176:Skint11 UTSW 4 114,051,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTGAACAACAAGTTGCAGTGAG -3'
(R):5'- GTGTCAAGTTTCCAAGTTTCGAGTAC -3'

Sequencing Primer
(F):5'- CAACAAGTTGCAGTGAGAGTGTGTG -3'
(R):5'- AGTTTCCAAGTTTCGAGTACAATTC -3'
Posted On 2015-06-12