Incidental Mutation 'IGL02750:Krtap4-16'
ID306258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap4-16
Ensembl Gene ENSMUSG00000046474
Gene Namekeratin associated protein 4-16
SynonymsOTTMUSG00000002196
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02750
Quality Score
Status
Chromosome11
Chromosomal Location99850655-99851608 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 99851280 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 98 (R98L)
Ref Sequence ENSEMBL: ENSMUSP00000103060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107437]
Predicted Effect possibly damaging
Transcript: ENSMUST00000107437
AA Change: R98L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103060
Gene: ENSMUSG00000046474
AA Change: R98L

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 41 8e-7 PFAM
Pfam:Keratin_B2_2 19 63 6.6e-13 PFAM
Pfam:Keratin_B2_2 29 78 3e-8 PFAM
Pfam:Keratin_B2_2 62 98 4.1e-9 PFAM
Pfam:Keratin_B2_2 78 118 6.5e-10 PFAM
Pfam:Keratin_B2_2 96 136 2.4e-10 PFAM
Pfam:Keratin_B2_2 115 157 1.5e-9 PFAM
Pfam:Keratin_B2_2 134 174 7.3e-10 PFAM
Pfam:Keratin_B2_2 168 202 1.6e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,548,791 K884R probably benign Het
Ano3 T A 2: 110,665,984 probably benign Het
Baz2b C A 2: 59,968,658 S374I possibly damaging Het
Brd4 G A 17: 32,198,379 probably benign Het
Cd3g C A 9: 44,971,310 probably benign Het
Ckmt1 C T 2: 121,363,615 probably benign Het
Clcnkb T C 4: 141,405,362 probably null Het
Dkkl1 C T 7: 45,210,112 probably null Het
Ehmt1 G A 2: 24,863,869 T161I probably damaging Het
Ern2 A G 7: 122,181,406 probably benign Het
Fmnl2 T C 2: 53,103,697 I368T possibly damaging Het
Gabra5 G T 7: 57,507,991 S25Y probably benign Het
Gemin7 C T 7: 19,565,419 V84M probably null Het
Gm17654 A G 14: 43,578,199 probably benign Het
Grk6 T C 13: 55,451,543 F186S probably damaging Het
Gtf2ird2 A G 5: 134,216,889 H663R probably damaging Het
Gtf3c1 T A 7: 125,676,512 I581F probably damaging Het
Herc2 T A 7: 56,204,379 probably benign Het
Hook3 A T 8: 26,095,754 probably benign Het
Ints4 T A 7: 97,517,757 probably null Het
Kpna6 T C 4: 129,661,377 N20D probably damaging Het
Krtap29-1 T C 11: 99,978,684 S124G probably benign Het
Lrrc28 T C 7: 67,531,683 D268G probably damaging Het
Mcm6 T A 1: 128,343,472 Q470L probably damaging Het
Neb T C 2: 52,291,055 H1180R probably benign Het
Nxpe3 C A 16: 55,860,375 V285L probably benign Het
Olfr118 T A 17: 37,672,609 C195* probably null Het
Olfr1281 A G 2: 111,329,288 R290G probably damaging Het
Olfr307 T A 7: 86,335,544 N284I probably damaging Het
Pdcd1 A G 1: 94,039,544 probably benign Het
Pnkp A G 7: 44,860,187 probably benign Het
Pou4f2 A T 8: 78,435,063 F304I probably damaging Het
Rita1 G A 5: 120,609,651 T194M possibly damaging Het
Rnpc3 T C 3: 113,621,939 T150A possibly damaging Het
Sema3b T C 9: 107,603,164 T168A probably benign Het
Skint5 T A 4: 113,539,362 M1205L unknown Het
Sox13 A C 1: 133,383,796 I566S probably benign Het
Tbc1d32 T C 10: 56,198,491 T209A possibly damaging Het
Tonsl G T 15: 76,633,389 P710Q probably damaging Het
Trpm5 T C 7: 143,074,484 H1018R possibly damaging Het
Ubr2 A T 17: 46,969,282 M647K probably benign Het
Ubr7 A T 12: 102,771,278 T395S possibly damaging Het
Uri1 G A 7: 37,967,481 R176* probably null Het
Vmn1r188 A T 13: 22,088,730 I285F probably damaging Het
Vmn2r116 T A 17: 23,397,634 probably benign Het
Vmn2r2 C A 3: 64,117,402 C586F probably damaging Het
Vmn2r96 T A 17: 18,582,589 W62R probably benign Het
Zfp24 A T 18: 24,017,353 S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 K1254R probably null Het
Other mutations in Krtap4-16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Krtap4-16 APN 11 99851206 missense possibly damaging 0.86
IGL02973:Krtap4-16 APN 11 99851341 missense possibly damaging 0.71
IGL03236:Krtap4-16 APN 11 99851136 missense unknown
IGL02837:Krtap4-16 UTSW 11 99851037 missense unknown
R1803:Krtap4-16 UTSW 11 99851172 missense possibly damaging 0.93
R1959:Krtap4-16 UTSW 11 99851547 missense unknown
R1986:Krtap4-16 UTSW 11 99851496 missense unknown
R5818:Krtap4-16 UTSW 11 99851523 missense unknown
R6283:Krtap4-16 UTSW 11 99851035 missense unknown
Posted On2015-04-16