Incidental Mutation 'IGL01836:Krt73'
ID 154951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt73
Ensembl Gene ENSMUSG00000063661
Gene Name keratin 73
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL01836
Quality Score
Status
Chromosome 15
Chromosomal Location 101793308-101802346 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101795896 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 403 (H403R)
Ref Sequence ENSEMBL: ENSMUSP00000065349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063292]
AlphaFold Q6NXH9
Predicted Effect probably benign
Transcript: ENSMUST00000063292
AA Change: H403R

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: H403R

DomainStartEndE-ValueType
low complexity region 17 57 N/A INTRINSIC
Pfam:Keratin_2_head 59 127 1.4e-19 PFAM
Filament 130 443 5.39e-159 SMART
low complexity region 450 461 N/A INTRINSIC
low complexity region 466 481 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh6a A G 3: 138,313,336 probably benign Het
Atp1a1 C T 3: 101,591,414 G188R probably damaging Het
Cadps A G 14: 12,522,311 Y618H probably damaging Het
Dot1l T C 10: 80,785,866 S451P probably benign Het
Dpysl4 G A 7: 139,096,173 V294I possibly damaging Het
Ehmt1 T A 2: 24,863,220 probably null Het
Eps8 C T 6: 137,483,541 probably null Het
Gm7247 T A 14: 51,365,396 I63K probably damaging Het
Gsdme T A 6: 50,222,789 D270V probably damaging Het
Kel T A 6: 41,697,438 T353S possibly damaging Het
Mrnip A G 11: 50,199,848 T280A probably benign Het
Olfr342 C T 2: 36,527,825 Q138* probably null Het
Pkdrej A G 15: 85,820,958 L259P probably damaging Het
Plod2 T C 9: 92,606,498 probably benign Het
Rad54l2 A G 9: 106,716,157 S415P probably benign Het
Rag1 A T 2: 101,641,894 F968I probably damaging Het
Rreb1 T C 13: 37,931,457 S931P probably damaging Het
Sec23a T C 12: 58,971,287 I618V probably damaging Het
Smtnl1 A T 2: 84,815,370 F386I probably damaging Het
Sppl2b C T 10: 80,861,386 T30I probably benign Het
Srf T C 17: 46,549,182 probably benign Het
Tbc1d22b A G 17: 29,599,958 T429A probably damaging Het
Tcf20 A T 15: 82,855,155 D698E probably damaging Het
Tmem106c C A 15: 97,969,686 S250R probably benign Het
Tmprss3 A G 17: 31,191,044 S199P probably benign Het
Ush2a C T 1: 188,759,863 probably benign Het
Zfp595 A G 13: 67,332,461 probably benign Het
Other mutations in Krt73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Krt73 APN 15 101798937 critical splice acceptor site probably null
IGL01768:Krt73 APN 15 101798856 missense probably benign 0.01
IGL02058:Krt73 APN 15 101802021 missense probably benign
IGL02063:Krt73 APN 15 101795769 splice site probably benign
IGL02076:Krt73 APN 15 101799935 missense probably damaging 1.00
IGL02878:Krt73 APN 15 101798826 missense probably damaging 1.00
IGL03127:Krt73 APN 15 101795840 missense probably benign
R0032:Krt73 UTSW 15 101794052 missense probably benign 0.30
R0109:Krt73 UTSW 15 101796395 nonsense probably null
R0143:Krt73 UTSW 15 101800773 missense probably damaging 1.00
R0233:Krt73 UTSW 15 101802016 missense probably benign 0.12
R0233:Krt73 UTSW 15 101802016 missense probably benign 0.12
R0254:Krt73 UTSW 15 101799889 splice site probably benign
R0256:Krt73 UTSW 15 101801936 missense probably damaging 1.00
R0497:Krt73 UTSW 15 101802230 missense probably damaging 0.99
R1592:Krt73 UTSW 15 101802239 nonsense probably null
R1681:Krt73 UTSW 15 101802047 missense possibly damaging 0.70
R1696:Krt73 UTSW 15 101799909 missense probably damaging 1.00
R1766:Krt73 UTSW 15 101793928 missense probably damaging 1.00
R2031:Krt73 UTSW 15 101798764 splice site probably benign
R2171:Krt73 UTSW 15 101800910 missense possibly damaging 0.88
R4674:Krt73 UTSW 15 101802075 missense probably benign 0.22
R4777:Krt73 UTSW 15 101794001 missense probably benign
R4869:Krt73 UTSW 15 101796398 missense probably damaging 1.00
R4892:Krt73 UTSW 15 101795809 missense probably damaging 0.99
R5794:Krt73 UTSW 15 101794829 missense probably benign 0.00
R6807:Krt73 UTSW 15 101796407 missense probably damaging 1.00
R6885:Krt73 UTSW 15 101796398 missense probably damaging 1.00
R7489:Krt73 UTSW 15 101793859 missense probably benign 0.00
R7682:Krt73 UTSW 15 101802045 missense probably benign 0.08
R9167:Krt73 UTSW 15 101793970 missense probably benign 0.00
R9795:Krt73 UTSW 15 101802290 missense probably damaging 1.00
Z1177:Krt73 UTSW 15 101793811 missense probably damaging 1.00
Posted On 2014-02-04