Incidental Mutation 'IGL00095:Krtap4-16'
ID 1134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap4-16
Ensembl Gene ENSMUSG00000046474
Gene Name keratin associated protein 4-16
Synonyms OTTMUSG00000002196
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL00095
Quality Score
Status
Chromosome 11
Chromosomal Location 99741481-99742431 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99742032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 123 (S123P)
Ref Sequence ENSEMBL: ENSMUSP00000103060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107437]
AlphaFold Q91W93
Predicted Effect possibly damaging
Transcript: ENSMUST00000107437
AA Change: S123P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103060
Gene: ENSMUSG00000046474
AA Change: S123P

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,679,639 (GRCm39) Y65N probably damaging Het
Catsperg2 C A 7: 29,397,483 (GRCm39) C1042F possibly damaging Het
Cluh T C 11: 74,554,890 (GRCm39) V776A probably benign Het
Crxos T A 7: 15,632,543 (GRCm39) C116* probably null Het
Csmd1 A G 8: 16,059,297 (GRCm39) probably benign Het
Cubn C A 2: 13,496,631 (GRCm39) probably benign Het
Exoc2 A G 13: 31,004,609 (GRCm39) I858T probably benign Het
Frmpd1 C A 4: 45,279,456 (GRCm39) T727K possibly damaging Het
Hapln3 T C 7: 78,771,731 (GRCm39) T53A probably damaging Het
Hnrnpul1 T A 7: 25,425,579 (GRCm39) Q584L possibly damaging Het
Ikbkb A T 8: 23,196,127 (GRCm39) F26I probably damaging Het
Il31ra A T 13: 112,684,012 (GRCm39) I120N possibly damaging Het
Itih1 C T 14: 30,651,778 (GRCm39) V855M probably benign Het
Large1 C T 8: 73,564,125 (GRCm39) R547Q probably damaging Het
Madd A G 2: 91,006,111 (GRCm39) probably benign Het
Mark1 A G 1: 184,630,800 (GRCm39) V770A probably damaging Het
Mpeg1 T C 19: 12,440,074 (GRCm39) F511L probably benign Het
Mrgpra9 A G 7: 46,884,839 (GRCm39) V276A possibly damaging Het
Nav3 T C 10: 109,677,594 (GRCm39) T666A probably damaging Het
Ndufa8 T C 2: 35,934,467 (GRCm39) D37G probably damaging Het
Nlrx1 A G 9: 44,164,576 (GRCm39) L956P probably damaging Het
Nr5a1 T C 2: 38,598,353 (GRCm39) E148G probably benign Het
Or10ab5 A T 7: 108,245,043 (GRCm39) F247I possibly damaging Het
Or14c46 T C 7: 85,918,877 (GRCm39) N40S probably damaging Het
Otulinl A G 15: 27,658,202 (GRCm39) S273P possibly damaging Het
Patj A C 4: 98,423,799 (GRCm39) Q1184P possibly damaging Het
Phf20l1 A G 15: 66,500,884 (GRCm39) T619A probably benign Het
Pla2g6 T C 15: 79,173,441 (GRCm39) T643A probably damaging Het
Pramel42 T C 5: 94,685,663 (GRCm39) L441P probably damaging Het
Radil A G 5: 142,483,677 (GRCm39) S510P probably damaging Het
Spock1 A G 13: 57,735,552 (GRCm39) probably benign Het
Stag3 C T 5: 138,297,400 (GRCm39) T577M probably damaging Het
Tap2 C T 17: 34,434,352 (GRCm39) R613C probably benign Het
Tnn A G 1: 159,953,021 (GRCm39) V673A possibly damaging Het
Trrap T C 5: 144,716,784 (GRCm39) probably benign Het
Vmn2r28 T C 7: 5,491,068 (GRCm39) D393G probably benign Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Zc3h12d T C 10: 7,738,231 (GRCm39) V179A probably damaging Het
Other mutations in Krtap4-16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02750:Krtap4-16 APN 11 99,742,106 (GRCm39) missense possibly damaging 0.71
IGL02973:Krtap4-16 APN 11 99,742,167 (GRCm39) missense possibly damaging 0.71
IGL03236:Krtap4-16 APN 11 99,741,962 (GRCm39) missense unknown
IGL02837:Krtap4-16 UTSW 11 99,741,863 (GRCm39) missense unknown
R1803:Krtap4-16 UTSW 11 99,741,998 (GRCm39) missense possibly damaging 0.93
R1959:Krtap4-16 UTSW 11 99,742,373 (GRCm39) missense unknown
R1986:Krtap4-16 UTSW 11 99,742,322 (GRCm39) missense unknown
R5818:Krtap4-16 UTSW 11 99,742,349 (GRCm39) missense unknown
R6283:Krtap4-16 UTSW 11 99,741,861 (GRCm39) missense unknown
R9643:Krtap4-16 UTSW 11 99,742,271 (GRCm39) missense unknown
Posted On 2011-07-12