Incidental Mutation 'R2262:Krt35'
ID243890
Institutional Source Beutler Lab
Gene Symbol Krt35
Ensembl Gene ENSMUSG00000048013
Gene Namekeratin 35
SynonymsKrt1-24, Ha5
MMRRC Submission 040262-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R2262 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location100092193-100096241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 100095767 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 140 (M140I)
Ref Sequence ENSEMBL: ENSMUSP00000099416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103127]
Predicted Effect probably benign
Transcript: ENSMUST00000103127
AA Change: M140I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013
AA Change: M140I

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 0.054 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik T C 7: 29,532,562 noncoding transcript Het
Ahdc1 A G 4: 133,063,163 T572A unknown Het
Bco1 T C 8: 117,133,025 L489S probably damaging Het
Brinp1 A G 4: 68,829,354 Y171H probably damaging Het
C1rl A T 6: 124,506,948 I186F probably damaging Het
Cacna1d A G 14: 30,491,016 V29A possibly damaging Het
Calcrl T C 2: 84,345,173 D279G probably damaging Het
Cass4 T C 2: 172,427,254 S421P probably damaging Het
Casz1 G T 4: 148,929,099 R40L probably damaging Het
Cdh23 A G 10: 60,317,128 V2372A probably damaging Het
Cdk17 T A 10: 93,211,958 S56T possibly damaging Het
Ces2h T A 8: 105,016,559 M142K probably damaging Het
Cfap161 C T 7: 83,793,372 V78I probably benign Het
Chst8 T A 7: 34,676,010 M135L probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Dcc C T 18: 71,374,551 E917K probably damaging Het
Dnah11 T A 12: 117,880,025 M4362L probably benign Het
Dnah11 T C 12: 117,966,639 T3324A probably damaging Het
Dnah8 A G 17: 30,673,835 N798S probably damaging Het
Dnajc3 A G 14: 118,960,820 Q118R probably damaging Het
Dok4 A T 8: 94,866,512 C182S probably damaging Het
Fnbp4 G T 2: 90,757,404 L375F probably damaging Het
Gbp8 T C 5: 105,016,133 Q433R possibly damaging Het
Glt1d1 A G 5: 127,657,112 M117V probably benign Het
Hcar1 A C 5: 123,878,586 D347E probably benign Het
Kif16b T C 2: 142,740,917 K563E probably damaging Het
Klra17 A G 6: 129,874,794 probably null Het
Lamb2 A T 9: 108,480,610 I111F probably damaging Het
Nell1 C T 7: 50,560,821 T494I possibly damaging Het
Noa1 G A 5: 77,309,804 Q85* probably null Het
Nsun4 A T 4: 116,052,950 S138T probably benign Het
Pcdh1 A T 18: 38,198,657 L431H probably benign Het
Pde1a T A 2: 80,128,931 probably benign Het
Pdgfra T C 5: 75,185,523 V778A probably benign Het
Plekhj1 A T 10: 80,796,472 N55K probably benign Het
Ptpn20 A G 14: 33,612,311 M49V probably benign Het
Rbm6 A G 9: 107,791,090 L547P probably damaging Het
Rexo1 C T 10: 80,549,569 E552K probably benign Het
Ryr3 C G 2: 112,675,873 R3443P probably damaging Het
Saxo1 C T 4: 86,478,975 D109N probably damaging Het
Setd2 A G 9: 110,561,243 probably benign Het
Slc22a28 T C 19: 8,071,208 Y358C probably benign Het
Sptbn4 T A 7: 27,434,357 D77V probably damaging Het
Ssh1 T C 5: 113,942,703 S867G possibly damaging Het
Stmn2 T C 3: 8,541,895 F25S probably damaging Het
Tcirg1 C T 19: 3,903,591 R112H possibly damaging Het
Tekt4 T A 17: 25,476,511 S439R possibly damaging Het
Trpc1 T A 9: 95,706,933 N746I probably damaging Het
Tuba1c A G 15: 99,037,876 H406R probably damaging Het
Uqcrfs1 G A 13: 30,541,107 S150L probably benign Het
Vcp T C 4: 42,980,828 T761A probably benign Het
Vmn1r68 T C 7: 10,527,445 E242G probably damaging Het
Vmn2r29 T A 7: 7,240,086 H22L possibly damaging Het
Vmn2r32 T A 7: 7,474,619 I258L probably benign Het
Vmn2r37 T A 7: 9,217,944 T307S probably damaging Het
Vmn2r6 T C 3: 64,556,669 N248S probably benign Het
Vmn2r63 G T 7: 42,928,607 T169N probably benign Het
Vmn2r67 T C 7: 85,136,974 T608A probably damaging Het
Xpo1 T A 11: 23,284,634 probably null Het
Zfp180 T G 7: 24,104,624 V156G probably benign Het
Zfp37 A T 4: 62,191,636 L397Q probably damaging 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
R0011:Krt35 UTSW 11 100093676 missense probably benign 0.10
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
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
Predicted Primers PCR Primer
(F):5'- CTGTCCTCATCTGATAGATTGGG -3'
(R):5'- TTACAGGGTATCCAGCTGCC -3'

Sequencing Primer
(F):5'- CCTCATCTGATAGATTGGGCTAAG -3'
(R):5'- TTTGCCACCAGCTACGG -3'
Posted On2014-10-16