Incidental Mutation 'R6501:Krtap4-9'
ID 519737
Institutional Source Beutler Lab
Gene Symbol Krtap4-9
Ensembl Gene ENSMUSG00000078262
Gene Name keratin associated protein 4-9
Synonyms OTTMUSG00000002198
MMRRC Submission 044633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R6501 (G1)
Quality Score 219.009
Status Validated
Chromosome 11
Chromosomal Location 99676026-99677083 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 99676255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105059] [ENSMUST00000107439]
AlphaFold B1AQA9
Predicted Effect unknown
Transcript: ENSMUST00000105059
AA Change: C59S
SMART Domains Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262
AA Change: C59S

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 47 1.2e-8 PFAM
Pfam:Keratin_B2_2 14 58 4.4e-13 PFAM
Pfam:Keratin_B2_2 54 102 3e-10 PFAM
Pfam:Keratin_B2_2 87 132 8.4e-12 PFAM
Pfam:Keratin_B2_2 98 147 3.4e-9 PFAM
Pfam:Keratin_B2_2 138 182 3.1e-12 PFAM
Pfam:Keratin_B2_2 178 222 4.8e-12 PFAM
Pfam:Keratin_B2_2 203 244 4.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107439
SMART Domains Protein: ENSMUSP00000103063
Gene: ENSMUSG00000089724

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 14 58 1.8e-13 PFAM
Pfam:Keratin_B2_2 54 98 6.7e-15 PFAM
Pfam:Keratin_B2_2 94 138 9.5e-15 PFAM
Pfam:Keratin_B2_2 138 182 1.5e-12 PFAM
Pfam:Keratin_B2_2 168 209 8.2e-9 PFAM
Meta Mutation Damage Score 0.5353 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,914,165 (GRCm39) C154* probably null Het
Ada A G 2: 163,570,108 (GRCm39) probably null Het
Birc6 G A 17: 74,886,276 (GRCm39) V535I probably damaging Het
Bptf T C 11: 106,968,509 (GRCm39) N1058S probably null Het
Cdadc1 C T 14: 59,823,898 (GRCm39) C198Y probably benign Het
Chrna7 G A 7: 62,755,863 (GRCm39) R228C probably damaging Het
Cts6 T C 13: 61,344,149 (GRCm39) N301S probably damaging Het
Cts8 T A 13: 61,398,756 (GRCm39) D250V probably damaging Het
Cyp26a1 G T 19: 37,687,518 (GRCm39) R235L possibly damaging Het
Disc1 A T 8: 125,944,844 (GRCm39) M598L probably benign Het
Ear6 T A 14: 52,091,681 (GRCm39) V76D possibly damaging Het
Grifin A G 5: 140,549,036 (GRCm39) *145R probably null Het
Htr2b T G 1: 86,038,363 (GRCm39) E11A probably damaging Het
Larp4b A C 13: 9,218,829 (GRCm39) H522P probably damaging Het
Macf1 A T 4: 123,363,425 (GRCm39) probably null Het
Mdfic T C 6: 15,770,516 (GRCm39) L174P possibly damaging Het
Mmp17 A G 5: 129,683,469 (GRCm39) E535G probably benign Het
Nfxl1 A T 5: 72,685,852 (GRCm39) probably null Het
Nynrin A T 14: 56,100,989 (GRCm39) T260S probably benign Het
Or4k44 C T 2: 111,368,124 (GRCm39) G170D probably damaging Het
Or7e168 A T 9: 19,720,271 (GRCm39) Y219F possibly damaging Het
Or8b1c A T 9: 38,384,585 (GRCm39) I181F possibly damaging Het
Pbx1 G T 1: 168,037,103 (GRCm39) D109E probably damaging Het
Pde4d A T 13: 109,253,476 (GRCm39) H101L probably benign Het
Pdlim3 T C 8: 46,361,639 (GRCm39) I155T possibly damaging Het
Plekha5 T A 6: 140,471,655 (GRCm39) Y26* probably null Het
Prpf6 T A 2: 181,263,713 (GRCm39) L191* probably null Het
Rabl6 A G 2: 25,492,459 (GRCm39) V80A possibly damaging Het
Rp1 T C 1: 4,381,503 (GRCm39) probably benign Het
Sec14l1 A G 11: 117,047,676 (GRCm39) S698G probably damaging Het
Skic2 A G 17: 35,063,412 (GRCm39) S622P possibly damaging Het
Slc19a1 G A 10: 76,885,440 (GRCm39) G447S probably benign Het
Slc2a6 A T 2: 26,913,143 (GRCm39) Y383* probably null Het
Slc9a9 C A 9: 94,818,424 (GRCm39) Q273K probably benign Het
Spint2 A G 7: 28,963,131 (GRCm39) Y56H probably damaging Het
Sspo T A 6: 48,472,146 (GRCm39) M123K possibly damaging Het
Syne2 A G 12: 76,074,621 (GRCm39) probably null Het
Trdn A C 10: 33,342,450 (GRCm39) K619N probably benign Het
Ttll13 A G 7: 79,899,924 (GRCm39) T119A possibly damaging Het
Ttn T C 2: 76,615,990 (GRCm39) Y8324C probably damaging Het
Ttn T C 2: 76,728,602 (GRCm39) probably benign Het
Vav2 A G 2: 27,186,231 (GRCm39) L208P probably damaging Het
Vmn1r179 A G 7: 23,628,342 (GRCm39) I178V probably benign Het
Vmn1r210 T C 13: 23,011,705 (GRCm39) M194V possibly damaging Het
Vmn2r103 A T 17: 20,032,166 (GRCm39) T647S probably benign Het
Wdr49 T A 3: 75,246,765 (GRCm39) H289L probably benign Het
Wnk2 T G 13: 49,300,159 (GRCm39) K184Q probably damaging Het
Zfp758 A G 17: 22,590,978 (GRCm39) probably benign Het
Other mutations in Krtap4-9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01949:Krtap4-9 APN 11 99,676,391 (GRCm39) unclassified probably benign
IGL02697:Krtap4-9 APN 11 99,676,574 (GRCm39) missense unknown
IGL03176:Krtap4-9 APN 11 99,676,106 (GRCm39) unclassified probably benign
R0988:Krtap4-9 UTSW 11 99,676,362 (GRCm39) nonsense probably null
R1773:Krtap4-9 UTSW 11 99,676,396 (GRCm39) unclassified probably benign
R1838:Krtap4-9 UTSW 11 99,676,222 (GRCm39) unclassified probably benign
R2566:Krtap4-9 UTSW 11 99,676,492 (GRCm39) unclassified probably benign
R2888:Krtap4-9 UTSW 11 99,676,245 (GRCm39) nonsense probably null
R3757:Krtap4-9 UTSW 11 99,676,444 (GRCm39) unclassified probably benign
R4633:Krtap4-9 UTSW 11 99,676,380 (GRCm39) unclassified probably benign
R5930:Krtap4-9 UTSW 11 99,676,462 (GRCm39) unclassified probably benign
R6092:Krtap4-9 UTSW 11 99,676,481 (GRCm39) unclassified probably benign
R6934:Krtap4-9 UTSW 11 99,676,708 (GRCm39) nonsense probably null
R7131:Krtap4-9 UTSW 11 99,676,283 (GRCm39) missense unknown
R8809:Krtap4-9 UTSW 11 99,676,454 (GRCm39) missense unknown
RF017:Krtap4-9 UTSW 11 99,676,225 (GRCm39) unclassified probably benign
RF023:Krtap4-9 UTSW 11 99,676,217 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AACCATGGTCAGCTCCTGTTG -3'
(R):5'- AGCTGGAACTACCACAGCAG -3'

Sequencing Primer
(F):5'- GTCAGCTCCTGTTGTGGCTC -3'
(R):5'- CAGCAGCTGGAAATGCAAC -3'
Posted On 2018-06-06