Incidental Mutation 'R6807:Krt73'
ID 533626
Institutional Source Beutler Lab
Gene Symbol Krt73
Ensembl Gene ENSMUSG00000063661
Gene Name keratin 73
Synonyms
MMRRC Submission 044920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R6807 (G1)
Quality Score 224.009
Status Validated
Chromosome 15
Chromosomal Location 101701743-101710781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101704842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 348 (E348A)
Ref Sequence ENSEMBL: ENSMUSP00000065349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063292]
AlphaFold Q6NXH9
Predicted Effect probably damaging
Transcript: ENSMUST00000063292
AA Change: E348A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: E348A

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
Meta Mutation Damage Score 0.5030 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.9%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,282,356 (GRCm39) T2158A probably benign Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apol7a T C 15: 77,277,520 (GRCm39) probably null Het
Bicdl1 C T 5: 115,810,202 (GRCm39) probably null Het
Bop1 T A 15: 76,339,183 (GRCm39) Q362L probably damaging Het
C4b T C 17: 34,949,930 (GRCm39) D1418G probably benign Het
Cdh23 A G 10: 60,214,650 (GRCm39) V1455A possibly damaging Het
Cecr2 T G 6: 120,711,503 (GRCm39) probably null Het
Cer1 T C 4: 82,801,052 (GRCm39) S204G probably benign Het
Cers3 G C 7: 66,413,968 (GRCm39) W15C probably damaging Het
Csn1s2a A T 5: 87,929,731 (GRCm39) H110L probably benign Het
Dnah10 T G 5: 124,867,064 (GRCm39) probably null Het
Dync2h1 T C 9: 7,041,718 (GRCm39) N3315S probably benign Het
Dynlrb2 T C 8: 117,234,299 (GRCm39) M21T probably benign Het
Emilin1 T A 5: 31,072,871 (GRCm39) F103I probably benign Het
Esrra T A 19: 6,889,142 (GRCm39) M416L probably benign Het
Etaa1 C A 11: 17,902,680 (GRCm39) V86L probably benign Het
Extl3 A G 14: 65,314,211 (GRCm39) S324P probably damaging Het
Fam90a1a T C 8: 22,453,368 (GRCm39) V241A probably benign Het
Fat4 C A 3: 39,036,589 (GRCm39) Q3414K probably benign Het
Gpr162 C T 6: 124,838,164 (GRCm39) R162H probably damaging Het
Gpr21 T A 2: 37,407,974 (GRCm39) Y173* probably null Het
Gprc6a G A 10: 51,502,841 (GRCm39) Q341* probably null Het
Herc2 T A 7: 55,814,670 (GRCm39) S2674R probably damaging Het
Hnrnpdl A T 5: 100,186,995 (GRCm39) H9Q probably null Het
Hps1 A G 19: 42,759,217 (GRCm39) V125A possibly damaging Het
Iba57 G T 11: 59,049,440 (GRCm39) P243H probably damaging Het
Incenp G T 19: 9,855,120 (GRCm39) A597E unknown Het
Kat6a T A 8: 23,430,384 (GRCm39) M1913K unknown Het
Klb G A 5: 65,536,877 (GRCm39) V736M probably damaging Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lig3 T A 11: 82,674,577 (GRCm39) D134E probably benign Het
Limd2 T C 11: 106,049,771 (GRCm39) T73A probably benign Het
Lrpprc A G 17: 85,056,531 (GRCm39) S787P possibly damaging Het
Macf1 A G 4: 123,268,208 (GRCm39) M6735T probably damaging Het
Mapkbp1 C A 2: 119,851,640 (GRCm39) Q861K probably damaging Het
Mc4r T A 18: 66,992,927 (GRCm39) N62I probably damaging Het
Metap1d G A 2: 71,341,858 (GRCm39) V151I probably damaging Het
Nek2 T C 1: 191,554,729 (GRCm39) V147A probably damaging Het
Nlrp1b A T 11: 71,108,530 (GRCm39) W324R probably damaging Het
Nol4l G T 2: 153,325,746 (GRCm39) S113* probably null Het
Oc90 T A 15: 65,761,463 (GRCm39) D185V probably damaging Het
Or2a52 T C 6: 43,144,172 (GRCm39) F60S probably damaging Het
Or2v1 G A 11: 49,025,805 (GRCm39) R262K probably damaging Het
Or4a71 G A 2: 89,357,932 (GRCm39) T274M probably damaging Het
Or5m13 A T 2: 85,748,382 (GRCm39) T38S possibly damaging Het
Or5p51 T A 7: 107,444,797 (GRCm39) T48S possibly damaging Het
Or8g50 A T 9: 39,648,914 (GRCm39) K268* probably null Het
Pcdha8 A G 18: 37,127,401 (GRCm39) T628A probably damaging Het
Pcsk5 A T 19: 17,549,986 (GRCm39) probably null Het
Pdgfrb T C 18: 61,211,721 (GRCm39) probably null Het
Pgm3 A T 9: 86,438,555 (GRCm39) probably null Het
Pin1rt1 T A 2: 104,545,063 (GRCm39) Y23F probably benign Het
Poli T A 18: 70,663,222 (GRCm39) probably null Het
Pom121 C A 5: 135,409,978 (GRCm39) probably benign Het
Ppp2r5c A G 12: 110,535,456 (GRCm39) D407G possibly damaging Het
Pramel28 A G 4: 143,691,581 (GRCm39) S381P probably damaging Het
Rgs12 A G 5: 35,180,515 (GRCm39) D116G probably null Het
Serpina3b A T 12: 104,099,251 (GRCm39) E255D probably benign Het
Sft2d1rt T C 11: 45,942,859 (GRCm39) Q88R probably damaging Het
Slc46a1 A G 11: 78,357,790 (GRCm39) H281R probably damaging Het
Spata6 T C 4: 111,642,012 (GRCm39) I294T probably benign Het
Srgap1 T A 10: 121,664,631 (GRCm39) probably null Het
Stag1 C T 9: 100,826,903 (GRCm39) R957C probably damaging Het
Stk35 G A 2: 129,643,573 (GRCm39) E186K probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tenm4 G A 7: 96,544,478 (GRCm39) V2165I probably damaging Het
Tmem53 T C 4: 117,125,528 (GRCm39) S207P probably benign Het
Ugt2a3 A G 5: 87,484,617 (GRCm39) F136L probably benign Het
Unc13d T C 11: 115,957,577 (GRCm39) K795E probably damaging Het
Zbtb11 C A 16: 55,810,865 (GRCm39) T341K probably benign Het
Other mutations in Krt73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Krt73 APN 15 101,707,372 (GRCm39) critical splice acceptor site probably null
IGL01768:Krt73 APN 15 101,707,291 (GRCm39) missense probably benign 0.01
IGL01836:Krt73 APN 15 101,704,331 (GRCm39) missense probably benign 0.38
IGL02058:Krt73 APN 15 101,710,456 (GRCm39) missense probably benign
IGL02063:Krt73 APN 15 101,704,204 (GRCm39) splice site probably benign
IGL02076:Krt73 APN 15 101,708,370 (GRCm39) missense probably damaging 1.00
IGL02878:Krt73 APN 15 101,707,261 (GRCm39) missense probably damaging 1.00
IGL03127:Krt73 APN 15 101,704,275 (GRCm39) missense probably benign
R0032:Krt73 UTSW 15 101,702,487 (GRCm39) missense probably benign 0.30
R0109:Krt73 UTSW 15 101,704,830 (GRCm39) nonsense probably null
R0143:Krt73 UTSW 15 101,709,208 (GRCm39) missense probably damaging 1.00
R0233:Krt73 UTSW 15 101,710,451 (GRCm39) missense probably benign 0.12
R0233:Krt73 UTSW 15 101,710,451 (GRCm39) missense probably benign 0.12
R0254:Krt73 UTSW 15 101,708,324 (GRCm39) splice site probably benign
R0256:Krt73 UTSW 15 101,710,371 (GRCm39) missense probably damaging 1.00
R0497:Krt73 UTSW 15 101,710,665 (GRCm39) missense probably damaging 0.99
R1592:Krt73 UTSW 15 101,710,674 (GRCm39) nonsense probably null
R1681:Krt73 UTSW 15 101,710,482 (GRCm39) missense possibly damaging 0.70
R1696:Krt73 UTSW 15 101,708,344 (GRCm39) missense probably damaging 1.00
R1766:Krt73 UTSW 15 101,702,363 (GRCm39) missense probably damaging 1.00
R2031:Krt73 UTSW 15 101,707,199 (GRCm39) splice site probably benign
R2171:Krt73 UTSW 15 101,709,345 (GRCm39) missense possibly damaging 0.88
R4674:Krt73 UTSW 15 101,710,510 (GRCm39) missense probably benign 0.22
R4777:Krt73 UTSW 15 101,702,436 (GRCm39) missense probably benign
R4869:Krt73 UTSW 15 101,704,833 (GRCm39) missense probably damaging 1.00
R4892:Krt73 UTSW 15 101,704,244 (GRCm39) missense probably damaging 0.99
R5794:Krt73 UTSW 15 101,703,264 (GRCm39) missense probably benign 0.00
R6885:Krt73 UTSW 15 101,704,833 (GRCm39) missense probably damaging 1.00
R7489:Krt73 UTSW 15 101,702,294 (GRCm39) missense probably benign 0.00
R7682:Krt73 UTSW 15 101,710,480 (GRCm39) missense probably benign 0.08
R9167:Krt73 UTSW 15 101,702,405 (GRCm39) missense probably benign 0.00
R9795:Krt73 UTSW 15 101,710,725 (GRCm39) missense probably damaging 1.00
Z1177:Krt73 UTSW 15 101,702,246 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCCTACGAGGTTCTGGAC -3'
(R):5'- GCCTTCAGAAAGATCAGCCAG -3'

Sequencing Primer
(F):5'- CCTACGAGGTTCTGGACTTCAG -3'
(R):5'- TTCAGAAAGATCAGCCAGACTTAAG -3'
Posted On 2018-09-12