Incidental Mutation 'IGL03061:Krtap29-1'
ID409466
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: 0.128) question?
Stock #IGL03061
Quality Score
Status
Chromosome11
Chromosomal Location99978025-99979053 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99978629 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 142 (Q142L)
Ref Sequence ENSEMBL: ENSMUSP00000100672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105051]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105051
AA Change: Q142L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100672
Gene: ENSMUSG00000078254
AA Change: Q142L

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,508,337 N106K probably damaging Het
Ak8 T C 2: 28,742,755 probably benign Het
BC016579 C T 16: 45,629,486 G190S probably damaging Het
C4bp A G 1: 130,636,717 V410A probably damaging Het
Cacna2d3 T C 14: 29,058,431 T658A probably damaging Het
Cadps2 T C 6: 23,287,660 probably null Het
Car10 G T 11: 93,490,525 V105F probably damaging Het
Car15 C T 16: 17,835,385 C306Y possibly damaging Het
Casr C T 16: 36,495,888 A530T probably benign Het
Col5a3 A G 9: 20,797,572 probably null Het
Creld1 A G 6: 113,488,097 E95G probably damaging Het
Dcstamp T A 15: 39,760,397 D366E possibly damaging Het
Dnah11 T C 12: 117,903,121 Y4095C probably damaging Het
Eps8l2 A G 7: 141,357,235 probably benign Het
Gsn T C 2: 35,282,459 probably benign Het
Ifi27 T C 12: 103,435,544 V30A possibly damaging Het
Ifit1bl2 C T 19: 34,619,724 R164Q probably benign Het
Impg2 T C 16: 56,268,416 S1102P probably damaging Het
Kif24 G T 4: 41,394,323 P984Q possibly damaging Het
Lpar6 C T 14: 73,239,070 T157I probably benign Het
Lrrc32 A T 7: 98,499,422 T470S probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mroh9 A T 1: 163,026,502 H776Q probably damaging Het
Myh7 T C 14: 54,991,204 probably benign Het
Myh7b A G 2: 155,620,111 N309S possibly damaging Het
Myo5b A T 18: 74,634,559 T313S probably benign Het
Myo5b G A 18: 74,580,544 probably benign Het
Npas4 C T 19: 4,986,337 V600M probably damaging Het
Nrxn3 T A 12: 89,511,928 Y557* probably null Het
Olfr169 T C 16: 19,566,713 T57A possibly damaging Het
Olfr552 A G 7: 102,604,739 I128M probably damaging Het
Olfr968 T A 9: 39,772,162 T213S probably benign Het
Pcdh15 A G 10: 74,317,011 I383V probably damaging Het
Pdzrn3 C A 6: 101,151,855 D617Y probably damaging Het
Prodh2 A T 7: 30,512,833 K408* probably null Het
Ptprs T C 17: 56,418,830 I1052V probably damaging Het
Rpl14 T C 9: 120,572,127 V12A probably damaging Het
Sf3a1 C T 11: 4,175,493 R428C probably damaging Het
Sgsm2 G T 11: 74,851,136 N1009K probably damaging Het
Slc28a2 A T 2: 122,454,499 I323F probably damaging Het
Snx19 T A 9: 30,433,632 F676I probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tg A C 15: 66,671,405 D56A probably damaging Het
Tln1 G T 4: 43,545,694 A928E probably damaging Het
Tmem94 T C 11: 115,792,421 S677P possibly damaging Het
Ttc41 C A 10: 86,736,857 H698N possibly damaging Het
Vcan T C 13: 89,703,275 T1189A probably benign Het
Vmn1r215 G T 13: 23,075,918 V43F probably damaging Het
Vmn2r28 A T 7: 5,484,016 N549K probably damaging Het
Zfp598 T C 17: 24,679,592 V455A probably benign 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
IGL02750:Krtap29-1 APN 11 99978684 missense probably benign 0.00
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 On2016-08-02