Incidental Mutation 'IGL03340:Krtap9-5'
ID 417169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap9-5
Ensembl Gene ENSMUSG00000078255
Gene Name keratin associated protein 9-5
Synonyms OTTMUSG00000002205
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL03340
Quality Score
Status
Chromosome 11
Chromosomal Location 99839301-99840377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99839427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 43 (C43R)
Ref Sequence ENSEMBL: ENSMUSP00000100673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105052]
AlphaFold A2A5X3
Predicted Effect possibly damaging
Transcript: ENSMUST00000105052
AA Change: C43R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100673
Gene: ENSMUSG00000078255
AA Change: C43R

DomainStartEndE-ValueType
internal_repeat_3 4 21 5.14e-6 PROSPERO
internal_repeat_2 5 26 9e-8 PROSPERO
low complexity region 37 48 N/A INTRINSIC
Pfam:Keratin_B2_2 52 94 2.7e-9 PFAM
Pfam:Keratin_B2_2 75 128 2e-5 PFAM
Pfam:Keratin_B2_2 125 169 1.7e-9 PFAM
Pfam:Keratin_B2_2 198 245 6.7e-9 PFAM
Pfam:Keratin_B2_2 241 288 1.1e-8 PFAM
Pfam:Keratin_B2_2 284 317 5.6e-7 PFAM
Pfam:Keratin_B2_2 313 357 1.5e-5 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,126,786 (GRCm39) L26P probably benign Het
Aff1 A T 5: 103,931,670 (GRCm39) H104L possibly damaging Het
Apon T C 10: 128,090,847 (GRCm39) I175T probably benign Het
C2cd6 A C 1: 59,115,830 (GRCm39) F168V probably benign Het
Cgn C T 3: 94,685,405 (GRCm39) probably benign Het
Cramp1 G A 17: 25,192,516 (GRCm39) P956L probably damaging Het
Cyp2e1 G A 7: 140,344,767 (GRCm39) V78M probably damaging Het
Cyp4b1 G A 4: 115,499,076 (GRCm39) P97S probably damaging Het
Fads2 G T 19: 10,069,136 (GRCm39) P96Q possibly damaging Het
Fcer2a T C 8: 3,738,310 (GRCm39) D120G possibly damaging Het
Fhip1b A G 7: 105,038,517 (GRCm39) S241P probably damaging Het
Gm21972 G T 1: 86,061,450 (GRCm39) A887S probably damaging Het
Grk6 A G 13: 55,601,003 (GRCm39) D295G probably damaging Het
Herc2 T A 7: 55,740,668 (GRCm39) V270D possibly damaging Het
Kcnk2 T A 1: 189,027,878 (GRCm39) I126F possibly damaging Het
Kifap3 T G 1: 163,656,718 (GRCm39) V346G possibly damaging Het
Kpna1 T A 16: 35,820,616 (GRCm39) N20K probably damaging Het
Krt33b A G 11: 99,916,298 (GRCm39) probably benign Het
Lars1 G A 18: 42,361,715 (GRCm39) probably benign Het
Lifr T C 15: 7,207,417 (GRCm39) W540R probably benign Het
Lrp1b A G 2: 41,358,981 (GRCm39) S631P probably damaging Het
Mbd1 G T 18: 74,407,553 (GRCm39) R111L probably benign Het
Meltf C T 16: 31,711,602 (GRCm39) T576M probably damaging Het
Mmp20 G A 9: 7,643,995 (GRCm39) G228S probably damaging Het
Mob4 A G 1: 55,175,867 (GRCm39) D37G possibly damaging Het
Msr1 T C 8: 40,073,048 (GRCm39) K234E possibly damaging Het
Myof A G 19: 37,899,607 (GRCm39) V1764A probably damaging Het
Naaladl1 A G 19: 6,156,229 (GRCm39) Y105C possibly damaging Het
Nisch A G 14: 30,895,101 (GRCm39) V1065A probably damaging Het
Npas4 A T 19: 5,035,094 (GRCm39) probably benign Het
Or4c124 T C 2: 89,156,039 (GRCm39) T162A possibly damaging Het
Pdss2 A G 10: 43,269,997 (GRCm39) D280G probably benign Het
Plk3 A G 4: 116,990,125 (GRCm39) I182T probably damaging Het
Ppm1k A G 6: 57,487,711 (GRCm39) W371R probably damaging Het
Samm50 T C 15: 84,082,864 (GRCm39) probably null Het
Scaper G T 9: 55,510,116 (GRCm39) T640K possibly damaging Het
Sun3 A C 11: 8,973,285 (GRCm39) probably benign Het
Svep1 T A 4: 58,111,451 (GRCm39) K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 (GRCm39) P745Q probably benign Het
Tomm20l A T 12: 71,164,388 (GRCm39) probably benign Het
Usp38 A C 8: 81,738,905 (GRCm39) L237V probably damaging Het
Vmn1r210 T C 13: 23,011,644 (GRCm39) Y214C probably benign Het
Zan G A 5: 137,426,136 (GRCm39) P2547S unknown Het
Other mutations in Krtap9-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Krtap9-5 APN 11 99,839,291 (GRCm39) unclassified probably benign
IGL01105:Krtap9-5 APN 11 99,839,459 (GRCm39) missense unknown
IGL01673:Krtap9-5 APN 11 99,840,377 (GRCm39) makesense probably null
IGL02931:Krtap9-5 APN 11 99,839,931 (GRCm39) missense unknown
R0038:Krtap9-5 UTSW 11 99,839,428 (GRCm39) missense possibly damaging 0.86
R1067:Krtap9-5 UTSW 11 99,839,589 (GRCm39) missense unknown
R2051:Krtap9-5 UTSW 11 99,840,030 (GRCm39) missense unknown
R2102:Krtap9-5 UTSW 11 99,840,270 (GRCm39) missense unknown
R4689:Krtap9-5 UTSW 11 99,840,286 (GRCm39) missense unknown
R5076:Krtap9-5 UTSW 11 99,840,294 (GRCm39) missense unknown
R5807:Krtap9-5 UTSW 11 99,839,895 (GRCm39) missense unknown
R7468:Krtap9-5 UTSW 11 99,840,132 (GRCm39) missense unknown
R7485:Krtap9-5 UTSW 11 99,839,800 (GRCm39) missense unknown
R8876:Krtap9-5 UTSW 11 99,840,340 (GRCm39) missense unknown
R9727:Krtap9-5 UTSW 11 99,839,340 (GRCm39) missense possibly damaging 0.71
X0050:Krtap9-5 UTSW 11 99,839,767 (GRCm39) missense unknown
Posted On 2016-08-02