Incidental Mutation 'R9727:Krtap9-5'
ID 731110
Institutional Source Beutler Lab
Gene Symbol Krtap9-5
Ensembl Gene ENSMUSG00000078255
Gene Name keratin associated protein 9-5
Synonyms OTTMUSG00000002205
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R9727 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99839301-99840377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99839340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 14 (C14S)
Ref Sequence ENSEMBL: ENSMUSP00000100673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105052]
AlphaFold A2A5X3
Predicted Effect possibly damaging
Transcript: ENSMUST00000105052
AA Change: C14S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100673
Gene: ENSMUSG00000078255
AA Change: C14S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akirin2 A G 4: 34,565,248 (GRCm39) Y165C probably damaging Het
Aox4 A G 1: 58,286,473 (GRCm39) I702V probably benign Het
Arhgef33 A G 17: 80,678,720 (GRCm39) Y472C probably damaging Het
Atp13a4 T G 16: 29,228,589 (GRCm39) S964R Het
Atp1a2 T A 1: 172,118,936 (GRCm39) I69F probably benign Het
Bub1 T C 2: 127,652,609 (GRCm39) D586G possibly damaging Het
Ccdc177 C A 12: 80,806,044 (GRCm39) A77S probably benign Het
Ccdc187 A G 2: 26,171,204 (GRCm39) W425R probably damaging Het
Ccn2 A G 10: 24,471,820 (GRCm39) E37G probably benign Het
Ccsap T C 8: 124,572,169 (GRCm39) D111G possibly damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Ceacam3 C A 7: 16,892,262 (GRCm39) T335K Het
Col22a1 A T 15: 71,849,123 (GRCm39) W322R probably damaging Het
Col5a2 A G 1: 45,415,818 (GRCm39) V1443A possibly damaging Het
Dnah12 C T 14: 26,523,510 (GRCm39) Q2000* probably null Het
Dock7 G T 4: 98,875,568 (GRCm39) T1154K unknown Het
Dot1l T C 10: 80,628,382 (GRCm39) L1140P unknown Het
Dst G A 1: 34,314,877 (GRCm39) V4489M probably damaging Het
Duox2 G A 2: 122,116,998 (GRCm39) R960* probably null Het
Elavl2 T C 4: 91,169,495 (GRCm39) I97V probably benign Het
Emp1 G T 6: 135,358,016 (GRCm39) A121S probably benign Het
Exph5 A T 9: 53,287,702 (GRCm39) R1594S probably damaging Het
Fam186b C T 15: 99,171,669 (GRCm39) M859I probably benign Het
Fat2 A G 11: 55,159,137 (GRCm39) V3345A probably damaging Het
Gtf2f1 A T 17: 57,318,005 (GRCm39) N10K possibly damaging Het
Hid1 T G 11: 115,245,939 (GRCm39) K384N probably damaging Het
Hmcn1 T C 1: 150,674,566 (GRCm39) R579G probably benign Het
Igf1r T A 7: 67,857,554 (GRCm39) V1078D probably damaging Het
Il20rb A T 9: 100,357,001 (GRCm39) M43K probably damaging Het
Kdm3a A T 6: 71,569,094 (GRCm39) Y1134* probably null Het
Kif12 T A 4: 63,085,978 (GRCm39) N429I probably damaging Het
Kif18a C T 2: 109,118,464 (GRCm39) T93I probably damaging Het
Lgals8 A T 13: 12,462,038 (GRCm39) M264K possibly damaging Het
Mlxipl T A 5: 135,150,388 (GRCm39) C143* probably null Het
Mtcl2 T A 2: 156,862,168 (GRCm39) Q1587L possibly damaging Het
Mvp A T 7: 126,595,040 (GRCm39) H268Q probably damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nos2 A G 11: 78,843,825 (GRCm39) Y924C possibly damaging Het
Or4f52 A T 2: 111,061,961 (GRCm39) M59K probably damaging Het
Phf20l1 A G 15: 66,487,231 (GRCm39) N449S probably benign Het
Pot1b A C 17: 55,999,795 (GRCm39) I210S possibly damaging Het
Ptrh1 T A 2: 32,665,854 (GRCm39) W5R probably benign Het
Rasgrp3 A G 17: 75,810,239 (GRCm39) H313R probably damaging Het
Ric1 A T 19: 29,575,258 (GRCm39) I984F probably damaging Het
Rin2 G A 2: 145,702,506 (GRCm39) A401T possibly damaging Het
Rmdn3 C A 2: 118,968,827 (GRCm39) probably null Het
Senp7 A T 16: 55,990,169 (GRCm39) H639L probably benign Het
Sipa1l1 T C 12: 82,471,829 (GRCm39) S1270P probably damaging Het
Slc22a28 T A 19: 8,108,818 (GRCm39) E108V probably benign Het
Slc7a5 A G 8: 122,613,085 (GRCm39) I331T probably benign Het
Smarca4 T C 9: 21,611,160 (GRCm39) Y1467H probably damaging Het
Srebf2 T A 15: 82,076,506 (GRCm39) F759I possibly damaging Het
Thumpd2 A T 17: 81,345,585 (GRCm39) D304E probably damaging Het
Tmem59 A G 4: 107,050,547 (GRCm39) E226G probably benign Het
Trpv1 A C 11: 73,130,347 (GRCm39) D151A probably damaging Het
Txnrd3 A G 6: 89,651,751 (GRCm39) D607G probably benign Het
Ubr4 T A 4: 139,140,735 (GRCm39) V1218E probably damaging Het
Ugt2b5 T A 5: 87,288,165 (GRCm39) M1L probably damaging Het
Vwa5b2 C T 16: 20,423,477 (GRCm39) A1130V probably damaging Het
Wdr4 T C 17: 31,718,045 (GRCm39) E343G probably benign Het
Zbtb34 C A 2: 33,301,533 (GRCm39) R336L probably benign Het
Zfp607b T C 7: 27,403,125 (GRCm39) V527A probably benign Het
Zfp949 T A 9: 88,451,913 (GRCm39) C494* probably null 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
IGL03340:Krtap9-5 APN 11 99,839,427 (GRCm39) missense possibly damaging 0.86
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
X0050:Krtap9-5 UTSW 11 99,839,767 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGCCCCTGTTGAAAGAGTTC -3'
(R):5'- GCAGCTAGTTATACAGATTGGC -3'

Sequencing Primer
(F):5'- CCCTGTTGAAAGAGTTCCCATG -3'
(R):5'- CTTATAGCAGGTGGTTTCACAC -3'
Posted On 2022-10-06