Incidental Mutation 'R0011:Krt35'
ID8019
Institutional Source Beutler Lab
Gene Symbol Krt35
Ensembl Gene ENSMUSG00000048013
Gene Namekeratin 35
SynonymsKrt1-24, Ha5
MMRRC Submission 038306-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #R0011 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location100092193-100096241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 100093676 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 331 (Q331L)
Ref Sequence ENSEMBL: ENSMUSP00000099416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103127]
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
5430419D17Rik T A 7: 131,229,993 L389Q probably damaging Het
Ank3 A G 10: 69,979,451 probably benign Het
Art3 T A 5: 92,403,612 Y17N probably damaging Het
Asic3 C T 5: 24,417,492 probably benign Het
Brip1 C A 11: 86,186,998 K201N possibly damaging Het
Casc1 T A 6: 145,179,055 M515L probably damaging Het
Ccdc88a T C 11: 29,374,364 F6S probably damaging Het
Cfap54 A T 10: 93,065,225 C156S probably damaging Het
Chia1 A G 3: 106,130,974 probably benign Het
Cops4 C A 5: 100,527,981 Q28K probably benign Het
Epha7 G A 4: 28,962,564 D961N probably benign Het
Grin2c T C 11: 115,255,750 Y476C probably damaging Het
Igf2bp1 T C 11: 96,005,584 D17G probably damaging Het
Kidins220 T A 12: 24,999,352 V322E probably damaging Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mrc1 T C 2: 14,261,337 probably null Het
Msh2 T C 17: 87,680,093 probably benign Het
Ncoa1 A C 12: 4,322,896 F57L possibly damaging Het
Npy4r C T 14: 34,146,723 V203M probably damaging Het
Pcdhgb8 T C 18: 37,764,282 S802P probably benign Het
Ralgapa1 A G 12: 55,786,263 S152P probably damaging Het
Rasgef1b T C 5: 99,232,354 Y344C probably damaging Het
Rdh19 T A 10: 127,856,911 L149Q probably damaging Het
Shtn1 A G 19: 59,032,218 S191P possibly damaging Het
Tmem202 T A 9: 59,524,801 N81I probably benign Het
Trim58 A T 11: 58,643,120 T167S probably benign Het
Trp53i11 A T 2: 93,199,353 probably benign Het
Ttc30a2 T A 2: 75,976,217 R650S probably damaging Het
Ttn T C 2: 76,810,355 H5356R probably damaging Het
Tyrp1 C T 4: 80,840,793 T301I probably damaging Het
Wdr17 A T 8: 54,672,501 I448K possibly damaging Het
Wscd1 T C 11: 71,788,828 V509A probably damaging Het
Zfp251 A G 15: 76,854,554 V108A probably benign Het
Other mutations in Krt35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Krt35 APN 11 100093959 missense probably damaging 1.00
IGL01528:Krt35 APN 11 100094594 missense probably damaging 1.00
IGL02552:Krt35 APN 11 100093073 missense probably benign 0.39
IGL02583:Krt35 APN 11 100092534 missense possibly damaging 0.66
IGL03276:Krt35 APN 11 100093127 missense probably benign 0.39
R0282:Krt35 UTSW 11 100095747 missense probably damaging 0.99
R0692:Krt35 UTSW 11 100093070 missense possibly damaging 0.92
R0737:Krt35 UTSW 11 100093794 missense probably benign 0.33
R0750:Krt35 UTSW 11 100096153 missense possibly damaging 0.69
R1815:Krt35 UTSW 11 100095739 missense probably benign 0.02
R2218:Krt35 UTSW 11 100096162 missense probably null
R2262:Krt35 UTSW 11 100095767 missense probably benign 0.01
R4519:Krt35 UTSW 11 100094627 missense possibly damaging 0.50
R4575:Krt35 UTSW 11 100095899 missense probably benign 0.40
R4599:Krt35 UTSW 11 100094008 missense probably damaging 1.00
R4887:Krt35 UTSW 11 100093130 missense probably damaging 1.00
R5140:Krt35 UTSW 11 100094517 missense probably damaging 1.00
R5159:Krt35 UTSW 11 100094049 missense probably damaging 1.00
R5575:Krt35 UTSW 11 100094624 missense probably damaging 1.00
R5909:Krt35 UTSW 11 100095813 missense probably damaging 0.99
R6738:Krt35 UTSW 11 100093709 missense probably damaging 1.00
R7090:Krt35 UTSW 11 100095672 intron probably null
R7163:Krt35 UTSW 11 100096158 missense probably damaging 0.99
R7797:Krt35 UTSW 11 100094887 missense probably damaging 1.00
Posted On2012-11-20