Incidental Mutation 'R0011:Krt35'
ID 8019
Institutional Source Beutler Lab
Gene Symbol Krt35
Ensembl Gene ENSMUSG00000048013
Gene Name keratin 35
Synonyms Ha5, Krt1-24
MMRRC Submission 038306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R0011 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 99983018-99987050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99984502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 331 (Q331L)
Ref Sequence ENSEMBL: ENSMUSP00000099416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103127]
AlphaFold Q497I4
Predicted Effect probably benign
Transcript: ENSMUST00000103127
AA Change: Q331L

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013
AA Change: Q331L

DomainStartEndE-ValueType
low complexity region 33 43 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
Filament 96 407 3.32e-159 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173988
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 78.3%
  • 3x: 67.8%
  • 10x: 41.6%
  • 20x: 22.3%
Validation Efficiency 92% (85/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A G 10: 69,815,281 (GRCm39) probably benign Het
Art3 T A 5: 92,551,471 (GRCm39) Y17N probably damaging Het
Asic3 C T 5: 24,622,490 (GRCm39) probably benign Het
Brip1 C A 11: 86,077,824 (GRCm39) K201N possibly damaging Het
Ccdc88a T C 11: 29,324,364 (GRCm39) F6S probably damaging Het
Cdcp3 T A 7: 130,831,722 (GRCm39) L389Q probably damaging Het
Cfap54 A T 10: 92,901,087 (GRCm39) C156S probably damaging Het
Chia1 A G 3: 106,038,290 (GRCm39) probably benign Het
Cops4 C A 5: 100,675,847 (GRCm39) Q28K probably benign Het
Dnai7 T A 6: 145,124,781 (GRCm39) M515L probably damaging Het
Epha7 G A 4: 28,962,564 (GRCm39) D961N probably benign Het
Grin2c T C 11: 115,146,576 (GRCm39) Y476C probably damaging Het
Ift70a2 T A 2: 75,806,561 (GRCm39) R650S probably damaging Het
Igf2bp1 T C 11: 95,896,410 (GRCm39) D17G probably damaging Het
Kidins220 T A 12: 25,049,351 (GRCm39) V322E probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Msh2 T C 17: 87,987,521 (GRCm39) probably benign Het
Ncoa1 A C 12: 4,372,896 (GRCm39) F57L possibly damaging Het
Npy4r C T 14: 33,868,680 (GRCm39) V203M probably damaging Het
Pcdhgb8 T C 18: 37,897,335 (GRCm39) S802P probably benign Het
Ralgapa1 A G 12: 55,833,048 (GRCm39) S152P probably damaging Het
Rasgef1b T C 5: 99,380,213 (GRCm39) Y344C probably damaging Het
Rdh19 T A 10: 127,692,780 (GRCm39) L149Q probably damaging Het
Shtn1 A G 19: 59,020,650 (GRCm39) S191P possibly damaging Het
Tmem202 T A 9: 59,432,084 (GRCm39) N81I probably benign Het
Trim58 A T 11: 58,533,946 (GRCm39) T167S probably benign Het
Trp53i11 A T 2: 93,029,698 (GRCm39) probably benign Het
Ttn T C 2: 76,640,699 (GRCm39) H5356R probably damaging Het
Tyrp1 C T 4: 80,759,030 (GRCm39) T301I probably damaging Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Wscd1 T C 11: 71,679,654 (GRCm39) V509A probably damaging Het
Zfp251 A G 15: 76,738,754 (GRCm39) V108A probably benign Het
Other mutations in Krt35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Krt35 APN 11 99,984,785 (GRCm39) missense probably damaging 1.00
IGL01528:Krt35 APN 11 99,985,420 (GRCm39) missense probably damaging 1.00
IGL02552:Krt35 APN 11 99,983,899 (GRCm39) missense probably benign 0.39
IGL02583:Krt35 APN 11 99,983,360 (GRCm39) missense possibly damaging 0.66
IGL03276:Krt35 APN 11 99,983,953 (GRCm39) missense probably benign 0.39
R0282:Krt35 UTSW 11 99,986,573 (GRCm39) missense probably damaging 0.99
R0692:Krt35 UTSW 11 99,983,896 (GRCm39) missense possibly damaging 0.92
R0737:Krt35 UTSW 11 99,984,620 (GRCm39) missense probably benign 0.33
R0750:Krt35 UTSW 11 99,986,979 (GRCm39) missense possibly damaging 0.69
R1815:Krt35 UTSW 11 99,986,565 (GRCm39) missense probably benign 0.02
R2218:Krt35 UTSW 11 99,986,988 (GRCm39) missense probably null
R2262:Krt35 UTSW 11 99,986,593 (GRCm39) missense probably benign 0.01
R4519:Krt35 UTSW 11 99,985,453 (GRCm39) missense possibly damaging 0.50
R4575:Krt35 UTSW 11 99,986,725 (GRCm39) missense probably benign 0.40
R4599:Krt35 UTSW 11 99,984,834 (GRCm39) missense probably damaging 1.00
R4887:Krt35 UTSW 11 99,983,956 (GRCm39) missense probably damaging 1.00
R5140:Krt35 UTSW 11 99,985,343 (GRCm39) missense probably damaging 1.00
R5159:Krt35 UTSW 11 99,984,875 (GRCm39) missense probably damaging 1.00
R5575:Krt35 UTSW 11 99,985,450 (GRCm39) missense probably damaging 1.00
R5909:Krt35 UTSW 11 99,986,639 (GRCm39) missense probably damaging 0.99
R6738:Krt35 UTSW 11 99,984,535 (GRCm39) missense probably damaging 1.00
R7090:Krt35 UTSW 11 99,986,498 (GRCm39) splice site probably null
R7163:Krt35 UTSW 11 99,986,984 (GRCm39) missense probably damaging 0.99
R7797:Krt35 UTSW 11 99,985,713 (GRCm39) missense probably damaging 1.00
R8716:Krt35 UTSW 11 99,987,011 (GRCm39) start codon destroyed probably null 0.98
R9480:Krt35 UTSW 11 99,986,609 (GRCm39) missense probably benign 0.24
Z1177:Krt35 UTSW 11 99,986,883 (GRCm39) missense probably benign 0.05
Posted On 2012-11-20