Incidental Mutation 'IGL01483:Krt40'
ID 88683
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt40
Ensembl Gene ENSMUSG00000059169
Gene Name keratin 40
Synonyms Ka36
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL01483
Quality Score
Status
Chromosome 11
Chromosomal Location 99428311-99433984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99433553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 144 (E144D)
Ref Sequence ENSEMBL: ENSMUSP00000073869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074253] [ENSMUST00000107443]
AlphaFold Q6IFX3
Predicted Effect probably damaging
Transcript: ENSMUST00000074253
AA Change: E144D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: E144D

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
Filament 88 399 1.07e-139 SMART
internal_repeat_1 409 419 9.76e-5 PROSPERO
internal_repeat_1 417 427 9.76e-5 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000107443
AA Change: E144D

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169
AA Change: E144D

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
Pfam:Filament 88 149 4.8e-19 PFAM
Pfam:Filament 146 319 6.1e-50 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,351,201 (GRCm39) noncoding transcript Het
Abcb4 T C 5: 8,977,871 (GRCm39) I483T probably damaging Het
Ank3 A T 10: 69,710,639 (GRCm39) H388L probably damaging Het
Arhgap24 T C 5: 103,008,243 (GRCm39) Y52H possibly damaging Het
Atf7ip A G 6: 136,564,457 (GRCm39) N900S probably damaging Het
Bmp10 A T 6: 87,410,933 (GRCm39) D242V probably damaging Het
Ceacam12 A G 7: 17,801,446 (GRCm39) R142G probably benign Het
Cilp2 T A 8: 70,335,496 (GRCm39) I501F probably damaging Het
Cplane1 T G 15: 8,216,591 (GRCm39) I603S probably damaging Het
Dglucy T C 12: 100,819,476 (GRCm39) V426A probably damaging Het
Dyrk1b A G 7: 27,882,101 (GRCm39) D94G probably damaging Het
Efcab3 T C 11: 104,630,173 (GRCm39) V968A probably benign Het
Erbb2 C T 11: 98,325,365 (GRCm39) R898C probably damaging Het
Fbxo7 T C 10: 85,880,445 (GRCm39) Y298H probably damaging Het
Gcg T C 2: 62,310,827 (GRCm39) D25G possibly damaging Het
Helb A G 10: 119,947,043 (GRCm39) V90A probably damaging Het
Lpo G A 11: 87,711,964 (GRCm39) T31I probably benign Het
Mc5r A G 18: 68,472,315 (GRCm39) I225V probably damaging Het
Mccc1 A G 3: 36,044,009 (GRCm39) F245L probably damaging Het
Mindy4 A G 6: 55,193,670 (GRCm39) D121G probably damaging Het
Nap1l4 A T 7: 143,081,053 (GRCm39) probably null Het
Noc4l T A 5: 110,796,824 (GRCm39) K486M probably damaging Het
Notum T C 11: 120,547,482 (GRCm39) D271G probably damaging Het
Pan3 T A 5: 147,466,783 (GRCm39) L550Q probably benign Het
Pde4dip A G 3: 97,661,465 (GRCm39) S594P probably damaging Het
Pramel12 A T 4: 143,144,047 (GRCm39) E131V probably damaging Het
Prr23a1 T G 9: 98,725,369 (GRCm39) S244A probably benign Het
Rarb T C 14: 16,432,273 (GRCm38) probably benign Het
Sh3d19 A G 3: 86,022,103 (GRCm39) D511G probably benign Het
Slco6c1 T C 1: 97,055,832 (GRCm39) N23S probably benign Het
Smarcc1 G T 9: 110,051,128 (GRCm39) G983* probably null Het
Tbc1d22a A T 15: 86,275,404 (GRCm39) Q442L probably benign Het
Tuba1b A G 15: 98,830,338 (GRCm39) Y161H possibly damaging Het
Zdhhc14 G A 17: 5,762,733 (GRCm39) M212I probably benign Het
Other mutations in Krt40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Krt40 APN 11 99,432,045 (GRCm39) missense probably damaging 1.00
IGL01621:Krt40 APN 11 99,433,694 (GRCm39) missense probably damaging 1.00
IGL01921:Krt40 APN 11 99,433,989 (GRCm39) unclassified probably benign
IGL02095:Krt40 APN 11 99,432,497 (GRCm39) missense probably damaging 0.98
IGL02735:Krt40 APN 11 99,429,461 (GRCm39) missense probably damaging 1.00
IGL02960:Krt40 APN 11 99,430,693 (GRCm39) splice site probably null
IGL02965:Krt40 APN 11 99,432,492 (GRCm39) missense probably damaging 1.00
IGL03168:Krt40 APN 11 99,433,854 (GRCm39) missense possibly damaging 0.87
IGL03240:Krt40 APN 11 99,428,394 (GRCm39) missense probably damaging 1.00
IGL03387:Krt40 APN 11 99,430,711 (GRCm39) missense probably damaging 1.00
R0178:Krt40 UTSW 11 99,432,565 (GRCm39) missense probably damaging 0.99
R0242:Krt40 UTSW 11 99,429,568 (GRCm39) missense probably damaging 1.00
R0242:Krt40 UTSW 11 99,429,568 (GRCm39) missense probably damaging 1.00
R0389:Krt40 UTSW 11 99,432,540 (GRCm39) nonsense probably null
R1104:Krt40 UTSW 11 99,431,059 (GRCm39) missense probably damaging 1.00
R2018:Krt40 UTSW 11 99,430,913 (GRCm39) missense probably damaging 1.00
R2022:Krt40 UTSW 11 99,430,818 (GRCm39) missense probably damaging 1.00
R4498:Krt40 UTSW 11 99,433,900 (GRCm39) missense possibly damaging 0.53
R4716:Krt40 UTSW 11 99,431,045 (GRCm39) missense probably damaging 1.00
R5886:Krt40 UTSW 11 99,430,907 (GRCm39) missense probably benign 0.34
R6232:Krt40 UTSW 11 99,433,920 (GRCm39) missense possibly damaging 0.85
R6233:Krt40 UTSW 11 99,433,920 (GRCm39) missense possibly damaging 0.85
R6235:Krt40 UTSW 11 99,433,920 (GRCm39) missense possibly damaging 0.85
R6248:Krt40 UTSW 11 99,432,566 (GRCm39) missense possibly damaging 0.95
R7064:Krt40 UTSW 11 99,430,954 (GRCm39) missense probably benign 0.32
R7400:Krt40 UTSW 11 99,433,969 (GRCm39) missense probably benign 0.00
R7589:Krt40 UTSW 11 99,430,983 (GRCm39) missense probably damaging 1.00
R7831:Krt40 UTSW 11 99,432,087 (GRCm39) missense probably benign 0.06
R7838:Krt40 UTSW 11 99,430,961 (GRCm39) missense possibly damaging 0.92
R9156:Krt40 UTSW 11 99,430,693 (GRCm39) splice site probably null
R9342:Krt40 UTSW 11 99,429,579 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18