Incidental Mutation 'R3872:Krt34'
ID 276629
Institutional Source Beutler Lab
Gene Symbol Krt34
Ensembl Gene ENSMUSG00000043485
Gene Name keratin 34
Synonyms 4733401E01Rik, Krt1-4
MMRRC Submission 040790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R3872 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 99928173-99932380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99932243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 27 (H27R)
Ref Sequence ENSEMBL: ENSMUSP00000056622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056362]
AlphaFold Q9D646
Predicted Effect probably benign
Transcript: ENSMUST00000056362
AA Change: H27R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: H27R

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Filament 55 366 7.76e-151 SMART
low complexity region 378 392 N/A INTRINSIC
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,045 (GRCm39) E1117G possibly damaging Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Bhmt-ps1 T C 4: 26,369,201 (GRCm39) noncoding transcript Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cic T C 7: 24,971,124 (GRCm39) V285A possibly damaging Het
Col19a1 A G 1: 24,614,408 (GRCm39) probably benign Het
Col6a4 T C 9: 105,890,858 (GRCm39) N1812S possibly damaging Het
Cry1 T C 10: 84,969,024 (GRCm39) probably null Het
Dlgap4 T C 2: 156,591,267 (GRCm39) S818P probably benign Het
Dlx5 G T 6: 6,878,209 (GRCm39) P274T probably benign Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dnah5 A G 15: 28,411,656 (GRCm39) K3675R possibly damaging Het
Dpp6 A G 5: 27,926,056 (GRCm39) Y710C probably damaging Het
Dsc3 C A 18: 20,104,565 (GRCm39) K587N probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Epcam C A 17: 87,947,354 (GRCm39) T36K possibly damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
Eya4 A T 10: 23,031,870 (GRCm39) I251N probably damaging Het
Fbxo21 G A 5: 118,138,394 (GRCm39) V447I possibly damaging Het
Firrm A T 1: 163,814,533 (GRCm39) S137T probably damaging Het
Frg2f1 T A 4: 119,388,155 (GRCm39) T115S possibly damaging Het
Hecw2 A T 1: 53,871,916 (GRCm39) probably benign Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Iqca1 A T 1: 90,017,203 (GRCm39) Y411N probably damaging Het
Itpa T G 2: 130,522,930 (GRCm39) S176A probably damaging Het
Klhl1 A G 14: 96,755,615 (GRCm39) F47L probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Mia3 T C 1: 183,138,342 (GRCm39) E791G probably benign Het
Mroh2b A T 15: 4,954,543 (GRCm39) K669* probably null Het
Msmo1 C T 8: 65,175,497 (GRCm39) probably null Het
Muc6 T C 7: 141,226,867 (GRCm39) T1387A probably benign Het
Myo1g C T 11: 6,464,886 (GRCm39) V463I possibly damaging Het
Or12d12 T A 17: 37,610,870 (GRCm39) T148S probably benign Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Pde10a C A 17: 8,975,923 (GRCm39) T16K possibly damaging Het
Pfas T C 11: 68,891,089 (GRCm39) T310A probably damaging Het
Phb2 G A 6: 124,693,394 (GRCm39) probably null Het
Plin3 A G 17: 56,591,181 (GRCm39) S200P probably damaging Het
Plxna1 C A 6: 89,309,674 (GRCm39) E1087* probably null Het
Rnf17 G T 14: 56,712,870 (GRCm39) R779L possibly damaging Het
Sacs C T 14: 61,385,517 (GRCm39) T6M probably benign Het
Scfd1 A G 12: 51,438,979 (GRCm39) Y147C probably damaging Het
Septin1 T C 7: 126,814,447 (GRCm39) probably benign Het
Septin5 A G 16: 18,441,723 (GRCm39) L344P probably damaging Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Slc35f1 A G 10: 52,898,006 (GRCm39) D139G possibly damaging Het
Sod3 A G 5: 52,525,631 (GRCm39) Y110C probably damaging Het
Stk35 T C 2: 129,652,495 (GRCm39) V332A possibly damaging Het
Tacc2 C T 7: 130,224,152 (GRCm39) T279M probably benign Het
Tdo2 T C 3: 81,875,393 (GRCm39) E187G probably benign Het
Tmem150b A T 7: 4,727,360 (GRCm39) Y48* probably null Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r60 C T 7: 41,785,878 (GRCm39) S227L probably benign Het
Vps33a C T 5: 123,669,255 (GRCm39) V549I probably benign Het
Zfp788 T A 7: 41,298,868 (GRCm39) Y449* probably null Het
Other mutations in Krt34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Krt34 APN 11 99,929,520 (GRCm39) splice site probably benign
IGL01323:Krt34 APN 11 99,929,606 (GRCm39) missense possibly damaging 0.95
IGL01403:Krt34 APN 11 99,929,116 (GRCm39) missense possibly damaging 0.88
IGL01453:Krt34 APN 11 99,930,916 (GRCm39) missense probably damaging 1.00
IGL02031:Krt34 APN 11 99,929,849 (GRCm39) missense possibly damaging 0.95
IGL02831:Krt34 APN 11 99,930,973 (GRCm39) splice site probably benign
R0024:Krt34 UTSW 11 99,931,863 (GRCm39) missense probably benign 0.01
R0024:Krt34 UTSW 11 99,931,863 (GRCm39) missense probably benign 0.01
R0220:Krt34 UTSW 11 99,929,519 (GRCm39) splice site probably benign
R0242:Krt34 UTSW 11 99,932,157 (GRCm39) missense probably damaging 1.00
R1573:Krt34 UTSW 11 99,931,854 (GRCm39) missense probably benign 0.01
R1714:Krt34 UTSW 11 99,930,953 (GRCm39) missense possibly damaging 0.95
R1879:Krt34 UTSW 11 99,929,118 (GRCm39) missense possibly damaging 0.76
R3084:Krt34 UTSW 11 99,931,847 (GRCm39) missense probably damaging 1.00
R3692:Krt34 UTSW 11 99,929,857 (GRCm39) missense probably damaging 1.00
R3819:Krt34 UTSW 11 99,930,844 (GRCm39) missense probably damaging 1.00
R3876:Krt34 UTSW 11 99,931,791 (GRCm39) missense probably benign 0.02
R6164:Krt34 UTSW 11 99,929,272 (GRCm39) nonsense probably null
R6338:Krt34 UTSW 11 99,929,316 (GRCm39) missense probably benign 0.00
R6457:Krt34 UTSW 11 99,930,916 (GRCm39) missense probably damaging 1.00
R7728:Krt34 UTSW 11 99,930,811 (GRCm39) critical splice donor site probably null
R7748:Krt34 UTSW 11 99,929,764 (GRCm39) missense probably damaging 1.00
R7903:Krt34 UTSW 11 99,932,321 (GRCm39) start codon destroyed probably null 0.42
R8458:Krt34 UTSW 11 99,930,901 (GRCm39) missense probably damaging 1.00
R8480:Krt34 UTSW 11 99,930,971 (GRCm39) critical splice acceptor site probably null
R9262:Krt34 UTSW 11 99,930,851 (GRCm39) missense probably benign 0.15
R9514:Krt34 UTSW 11 99,929,226 (GRCm39) missense probably damaging 1.00
Z1176:Krt34 UTSW 11 99,932,260 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGATCCTACATTCCAGCTCTG -3'
(R):5'- TTAGCTTCGGGACCAGGAAAG -3'

Sequencing Primer
(F):5'- GATCCTACATTCCAGCTCTGCATTC -3'
(R):5'- GAGAATTATGCTATTTGCCAAGCCTC -3'
Posted On 2015-04-06