Incidental Mutation 'IGL02750:Krtap29-1'
ID306261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap29-1
Ensembl Gene ENSMUSG00000078254
Gene Namekeratin associated protein 29-1
SynonymsGm14195
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL02750
Quality Score
Status
Chromosome11
Chromosomal Location99978025-99979053 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99978684 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 124 (S124G)
Ref Sequence ENSEMBL: ENSMUSP00000100672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105051]
Predicted Effect probably benign
Transcript: ENSMUST00000105051
AA Change: S124G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100672
Gene: ENSMUSG00000078254
AA Change: S124G

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
Pfam:Keratin_B2_2 105 149 2.9e-5 PFAM
Pfam:Keratin_B2_2 150 209 7.3e-6 PFAM
low complexity region 312 330 N/A INTRINSIC
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
Krtap4-16 C A 11: 99,851,280 R98L possibly damaging 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 Krtap29-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Krtap29-1 APN 11 99978279 missense possibly damaging 0.93
IGL02218:Krtap29-1 APN 11 99979058 unclassified probably null
IGL02306:Krtap29-1 APN 11 99978266 missense probably damaging 0.98
IGL02325:Krtap29-1 APN 11 99978333 missense probably damaging 1.00
IGL03061:Krtap29-1 APN 11 99978629 missense possibly damaging 0.77
IGL03303:Krtap29-1 APN 11 99978843 missense probably benign 0.03
R2069:Krtap29-1 UTSW 11 99978612 missense probably damaging 0.99
R6274:Krtap29-1 UTSW 11 99978983 missense probably null 0.00
R7643:Krtap29-1 UTSW 11 99978198 missense probably damaging 1.00
Posted On2015-04-16