Incidental Mutation 'IGL02005:Krtap12-1'
ID183130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap12-1
Ensembl Gene ENSMUSG00000069583
Gene Namekeratin associated protein 12-1
SynonymsD10Jhu14e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02005
Quality Score
Status
Chromosome10
Chromosomal Location77720599-77721254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 77720989 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 122 (V122D)
Ref Sequence ENSEMBL: ENSMUSP00000090024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000092370] [ENSMUST00000179767]
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092370
AA Change: V122D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090024
Gene: ENSMUSG00000069583
AA Change: V122D

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 42 3.1e-6 PFAM
Pfam:Keratin_B2_2 20 68 3.1e-10 PFAM
Pfam:Keratin_B2_2 39 84 3.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179767
SMART Domains Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 1.7e-8 PFAM
Pfam:Keratin_B2_2 29 74 1.8e-9 PFAM
low complexity region 88 106 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218482
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 90,058,620 D141G probably damaging Het
Ankhd1 T G 18: 36,648,426 L2177R probably damaging Het
Arhgap23 A T 11: 97,491,219 D1136V probably damaging Het
Atp6v1b1 A G 6: 83,753,914 probably benign Het
Atxn1 T C 13: 45,568,225 T65A probably benign Het
Bbs4 A G 9: 59,336,355 probably benign Het
Bms1 G A 6: 118,404,585 T664M probably damaging Het
Bod1l T C 5: 41,816,339 D2544G probably benign Het
Cdhr2 C T 13: 54,719,763 H469Y probably benign Het
Cep57l1 T C 10: 41,740,961 D110G probably benign Het
Chd4 G A 6: 125,128,816 E1786K possibly damaging Het
Cltc T C 11: 86,730,219 K321E possibly damaging Het
Col6a2 T C 10: 76,610,173 D383G probably damaging Het
Crcp T G 5: 130,042,233 C58G probably benign Het
Ctc1 A G 11: 69,031,149 Y807C probably damaging Het
Eml4 T A 17: 83,477,703 probably benign Het
Glce A T 9: 62,060,577 L431I probably damaging Het
Glp1r C A 17: 30,924,611 T207K probably benign Het
Gm28042 G A 2: 120,034,634 V247I possibly damaging Het
Gm8989 G T 7: 106,329,420 F423L unknown Het
Hcrtr1 T A 4: 130,137,263 H76L probably benign Het
Hoxb13 G A 11: 96,194,609 G56D probably damaging Het
Hykk A G 9: 54,920,558 E27G possibly damaging Het
Kars A T 8: 112,000,104 L321* probably null Het
Klhl12 A T 1: 134,463,914 T95S possibly damaging Het
Klhl14 A T 18: 21,624,611 Y347* probably null Het
Kmt5b A G 19: 3,786,538 H25R possibly damaging Het
Lrrc66 T C 5: 73,608,734 D322G possibly damaging Het
Lrrc8b T A 5: 105,481,054 V422D probably benign Het
Med12l T G 3: 59,244,947 M1051R probably damaging Het
Mmrn1 A G 6: 60,960,744 Y242C probably damaging Het
Ncf2 A T 1: 152,817,052 I107L possibly damaging Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pdlim4 T C 11: 54,059,984 D93G probably benign Het
Pgap1 C A 1: 54,551,055 A75S probably damaging Het
Pkd1 A G 17: 24,586,004 D3209G possibly damaging Het
Prcp T C 7: 92,927,824 S319P probably benign Het
Rasal2 G A 1: 157,156,998 Q1035* probably null Het
Ryr3 A T 2: 112,663,263 probably benign Het
Scaf8 T C 17: 3,185,870 I544T probably damaging Het
Svep1 A T 4: 58,069,056 V2910E possibly damaging Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Trpm7 A T 2: 126,813,184 L1278H probably damaging Het
Tti2 G T 8: 31,155,830 G391C probably damaging Het
Ttn C T 2: 76,948,019 M1295I possibly damaging Het
Ttn T C 2: 76,723,969 probably benign Het
Vmn1r170 G A 7: 23,606,913 V247M probably damaging Het
Wdr48 T C 9: 119,905,389 Y125H probably damaging Het
Wdtc1 C T 4: 133,308,914 R105H probably benign Het
Zc3h11a A G 1: 133,622,142 S699P probably benign Het
Zkscan14 C T 5: 145,195,609 V371I probably benign Het
Zzef1 A T 11: 72,888,299 Y1862F probably benign Het
Other mutations in Krtap12-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Krtap12-1 APN 10 77720980 missense possibly damaging 0.73
R1739:Krtap12-1 UTSW 10 77720992 missense possibly damaging 0.79
R3767:Krtap12-1 UTSW 10 77720895 missense probably benign 0.07
R3768:Krtap12-1 UTSW 10 77720895 missense probably benign 0.07
R3770:Krtap12-1 UTSW 10 77720895 missense probably benign 0.07
R5284:Krtap12-1 UTSW 10 77720965 missense possibly damaging 0.73
R6654:Krtap12-1 UTSW 10 77720703 unclassified probably benign
Posted On2014-05-07