Incidental Mutation 'IGL00095:Krtap4-16'
ID1134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap4-16
Ensembl Gene ENSMUSG00000046474
Gene Namekeratin associated protein 4-16
SynonymsOTTMUSG00000002196
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL00095
Quality Score
Status
Chromosome11
Chromosomal Location99850655-99851608 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99851206 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 123 (S123P)
Ref Sequence ENSEMBL: ENSMUSP00000103060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107437]
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: 66,882,751 Y65N probably damaging Het
Catsperg2 C A 7: 29,698,058 C1042F possibly damaging Het
Cluh T C 11: 74,664,064 V776A probably benign Het
Crxos T A 7: 15,898,618 C116* probably null Het
Csmd1 A G 8: 16,009,297 probably benign Het
Cubn C A 2: 13,491,820 probably benign Het
Exoc2 A G 13: 30,820,626 I858T probably benign Het
Fam105a A G 15: 27,658,116 S273P possibly damaging Het
Frmpd1 C A 4: 45,279,456 T727K possibly damaging Het
Gm3139 T C 5: 94,537,804 L441P probably damaging Het
Hapln3 T C 7: 79,121,983 T53A probably damaging Het
Hnrnpul1 T A 7: 25,726,154 Q584L possibly damaging Het
Ikbkb A T 8: 22,706,111 F26I probably damaging Het
Il31ra A T 13: 112,547,478 I120N possibly damaging Het
Itih1 C T 14: 30,929,821 V855M probably benign Het
Large1 C T 8: 72,837,497 R547Q probably damaging Het
Madd A G 2: 91,175,766 probably benign Het
Mark1 A G 1: 184,898,603 V770A probably damaging Het
Mpeg1 T C 19: 12,462,710 F511L probably benign Het
Mrgpra9 A G 7: 47,235,091 V276A possibly damaging Het
Nav3 T C 10: 109,841,733 T666A probably damaging Het
Ndufa8 T C 2: 36,044,455 D37G probably damaging Het
Nlrx1 A G 9: 44,253,279 L956P probably damaging Het
Nr5a1 T C 2: 38,708,341 E148G probably benign Het
Olfr310 T C 7: 86,269,669 N40S probably damaging Het
Olfr509 A T 7: 108,645,836 F247I possibly damaging Het
Patj A C 4: 98,535,562 Q1184P possibly damaging Het
Phf20l1 A G 15: 66,629,035 T619A probably benign Het
Pla2g6 T C 15: 79,289,241 T643A probably damaging Het
Radil A G 5: 142,497,922 S510P probably damaging Het
Spock1 A G 13: 57,587,739 probably benign Het
Stag3 C T 5: 138,299,138 T577M probably damaging Het
Tap2 C T 17: 34,215,378 R613C probably benign Het
Tnn A G 1: 160,125,451 V673A possibly damaging Het
Trrap T C 5: 144,779,974 probably benign Het
Vmn2r28 T C 7: 5,488,069 D393G probably benign Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Zc3h12d T C 10: 7,862,467 V179A probably damaging Het
Other mutations in Krtap4-16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02750:Krtap4-16 APN 11 99851280 missense possibly damaging 0.71
IGL02973:Krtap4-16 APN 11 99851341 missense possibly damaging 0.71
IGL03236:Krtap4-16 APN 11 99851136 missense unknown
IGL02837:Krtap4-16 UTSW 11 99851037 missense unknown
R1803:Krtap4-16 UTSW 11 99851172 missense possibly damaging 0.93
R1959:Krtap4-16 UTSW 11 99851547 missense unknown
R1986:Krtap4-16 UTSW 11 99851496 missense unknown
R5818:Krtap4-16 UTSW 11 99851523 missense unknown
R6283:Krtap4-16 UTSW 11 99851035 missense unknown
Posted On2011-07-12