Incidental Mutation 'R1881:Krtap4-1'
ID 209132
Institutional Source Beutler Lab
Gene Symbol Krtap4-1
Ensembl Gene ENSMUSG00000063251
Gene Name keratin associated protein 4-1
Synonyms A030010K20Rik
MMRRC Submission 039902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1881 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 99518055-99519065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99518990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 7 (G7S)
Ref Sequence ENSEMBL: ENSMUSP00000079799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081007]
AlphaFold Q3UUY3
Predicted Effect probably null
Transcript: ENSMUST00000081007
AA Change: G7S
SMART Domains Protein: ENSMUSP00000079799
Gene: ENSMUSG00000063251
AA Change: G7S

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 14 58 4.5e-13 PFAM
Pfam:Keratin_B2_2 58 103 1.3e-12 PFAM
Meta Mutation Damage Score 0.8427 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.3%
Validation Efficiency 96% (71/74)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C A 11: 84,161,213 (GRCm39) Y1026* probably null Het
Acaca T G 11: 84,191,297 (GRCm39) probably benign Het
Adcy8 C T 15: 64,678,503 (GRCm39) M483I probably damaging Het
Adgrb2 G A 4: 129,904,078 (GRCm39) G735S probably damaging Het
Akap9 A G 5: 4,100,173 (GRCm39) T2612A probably benign Het
Armc1 A T 3: 19,189,060 (GRCm39) S202T possibly damaging Het
Arsj T C 3: 126,232,486 (GRCm39) S411P probably damaging Het
Ash1l T C 3: 88,888,862 (GRCm39) V247A probably benign Het
Camta2 T C 11: 70,562,842 (GRCm39) D935G probably benign Het
Cc2d2a G T 5: 43,898,170 (GRCm39) V1626F probably damaging Het
Cpne3 T A 4: 19,535,266 (GRCm39) R255S probably benign Het
Cramp1 A G 17: 25,196,656 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,176,735 (GRCm39) probably null Het
Cstf3 A T 2: 104,484,563 (GRCm39) M396L probably benign Het
Ctnnd2 A G 15: 31,005,227 (GRCm39) probably benign Het
Cul7 A T 17: 46,962,888 (GRCm39) Y173F probably damaging Het
Dach1 A T 14: 98,138,832 (GRCm39) M537K probably benign Het
Ddhd2 T C 8: 26,217,727 (GRCm39) I717V probably damaging Het
Dnm1 C T 2: 32,213,742 (GRCm39) V475I probably damaging Het
Dnm3 C T 1: 162,305,517 (GRCm39) probably benign Het
Dsg1c T A 18: 20,405,597 (GRCm39) probably benign Het
Eaf2 A T 16: 36,620,941 (GRCm39) probably benign Het
En1 T A 1: 120,530,904 (GRCm39) V48E unknown Het
Eral1 T A 11: 77,966,875 (GRCm39) H180L possibly damaging Het
Fry T A 5: 150,401,511 (GRCm39) C2760S probably damaging Het
Gtf2h3 C T 5: 124,722,336 (GRCm39) A113V probably benign Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Ifnl2 T A 7: 28,209,112 (GRCm39) R68W probably damaging Het
Il6st A G 13: 112,640,947 (GRCm39) T908A probably damaging Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Mup5 C A 4: 61,752,868 (GRCm39) E52* probably null Het
Myh15 A G 16: 48,891,446 (GRCm39) I189V probably damaging Het
Nav3 T A 10: 109,688,420 (GRCm39) Q619L probably damaging Het
Or14a257 T C 7: 86,138,646 (GRCm39) M38V probably benign Het
Or1p1 A T 11: 74,179,492 (GRCm39) T7S probably benign Het
Or4n4b A G 14: 50,536,472 (GRCm39) I98T probably damaging Het
Or5e1 T C 7: 108,354,335 (GRCm39) S91P probably damaging Het
Pam T C 1: 97,850,876 (GRCm39) T161A probably benign Het
Phf8-ps T A 17: 33,284,258 (GRCm39) D848V probably damaging Het
Pigs T C 11: 78,232,582 (GRCm39) V472A probably benign Het
Plek A T 11: 16,940,111 (GRCm39) N176K probably benign Het
Poc5 A G 13: 96,535,239 (GRCm39) N168S probably benign Het
Pomt2 G T 12: 87,182,370 (GRCm39) A219D probably damaging Het
Rttn T A 18: 89,033,336 (GRCm39) S716T probably damaging Het
Sema4b A T 7: 79,866,540 (GRCm39) S207C probably damaging Het
Slc25a20 G A 9: 108,557,408 (GRCm39) probably null Het
Slc5a6 A T 5: 31,194,155 (GRCm39) L634Q probably damaging Het
Slfn3 A G 11: 83,104,202 (GRCm39) I235V possibly damaging Het
Smarcc1 T A 9: 110,004,167 (GRCm39) L407Q probably damaging Het
Spata32 T C 11: 103,101,561 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,723,783 (GRCm39) probably null Het
Thada A G 17: 84,744,130 (GRCm39) V726A probably benign Het
Tmed7 A T 18: 46,721,622 (GRCm39) probably null Het
Tmem161a G A 8: 70,633,435 (GRCm39) G94S probably null Het
Tmem81 T A 1: 132,435,948 (GRCm39) probably benign Het
Trim63 C A 4: 134,043,702 (GRCm39) A55E probably damaging Het
Trmt1 A C 8: 85,415,896 (GRCm39) probably benign Het
Trpv4 C T 5: 114,761,687 (GRCm39) V814M probably benign Het
Tshz3 T C 7: 36,471,079 (GRCm39) S1023P possibly damaging Het
Upk3bl G A 5: 136,086,157 (GRCm39) R31Q probably benign Het
Usp40 T C 1: 87,921,993 (GRCm39) D290G probably benign Het
Vmn1r192 G T 13: 22,371,764 (GRCm39) A152E probably benign Het
Vmn1r26 T A 6: 57,985,650 (GRCm39) T180S probably benign Het
Wdr48 G T 9: 119,738,606 (GRCm39) V89L probably benign Het
Wdr6 G T 9: 108,450,378 (GRCm39) probably null Het
Zfp345 A G 2: 150,314,275 (GRCm39) Y421H probably damaging Het
Other mutations in Krtap4-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:Krtap4-1 APN 11 99,519,010 (GRCm39) utr 5 prime probably benign
R1209:Krtap4-1 UTSW 11 99,518,983 (GRCm39) missense unknown
R1398:Krtap4-1 UTSW 11 99,518,558 (GRCm39) missense unknown
R3928:Krtap4-1 UTSW 11 99,518,983 (GRCm39) missense unknown
R4012:Krtap4-1 UTSW 11 99,518,637 (GRCm39) nonsense probably null
R6488:Krtap4-1 UTSW 11 99,518,903 (GRCm39) missense unknown
R7391:Krtap4-1 UTSW 11 99,518,810 (GRCm39) missense unknown
R7512:Krtap4-1 UTSW 11 99,518,859 (GRCm39) nonsense probably null
R8134:Krtap4-1 UTSW 11 99,518,660 (GRCm39) small insertion probably benign
R8136:Krtap4-1 UTSW 11 99,518,660 (GRCm39) small insertion probably benign
R8672:Krtap4-1 UTSW 11 99,518,890 (GRCm39) missense unknown
R9035:Krtap4-1 UTSW 11 99,518,708 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTGGAAATGCAGCAACTGG -3'
(R):5'- TTGCAAACACAGGAGCCATC -3'

Sequencing Primer
(F):5'- TGGCAGCACACAGACTG -3'
(R):5'- GCCATCAGGAAAAAGAAATGTCATG -3'
Posted On 2014-06-30