Incidental Mutation 'IGL01019:Krtap5-4'
ID 53691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap5-4
Ensembl Gene ENSMUSG00000045236
Gene Name keratin associated protein 5-4
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL01019
Quality Score
Status
Chromosome 7
Chromosomal Location 141857239-141858240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 141857647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 106 (S106R)
Ref Sequence ENSEMBL: ENSMUSP00000059461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061403]
AlphaFold Q62220
Predicted Effect unknown
Transcript: ENSMUST00000061403
AA Change: S106R
SMART Domains Protein: ENSMUSP00000059461
Gene: ENSMUSG00000045236
AA Change: S106R

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 119 163 1.4e-5 PFAM
Pfam:Keratin_B2_2 183 222 1.1e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119351
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Krtap5-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2307:Krtap5-4 UTSW 7 141,857,351 (GRCm39) nonsense probably null
R4657:Krtap5-4 UTSW 7 141,857,491 (GRCm39) missense unknown
R6318:Krtap5-4 UTSW 7 141,857,827 (GRCm39) missense unknown
R7084:Krtap5-4 UTSW 7 141,857,609 (GRCm39) missense unknown
R7162:Krtap5-4 UTSW 7 141,857,335 (GRCm39) missense unknown
R7876:Krtap5-4 UTSW 7 141,857,585 (GRCm39) missense unknown
R7961:Krtap5-4 UTSW 7 141,857,671 (GRCm39) nonsense probably null
R8009:Krtap5-4 UTSW 7 141,857,671 (GRCm39) nonsense probably null
R9653:Krtap5-4 UTSW 7 141,857,908 (GRCm39) missense unknown
X0052:Krtap5-4 UTSW 7 141,857,641 (GRCm39) nonsense probably null
Posted On 2013-06-28