Incidental Mutation 'R7489:Krt73'
ID 580438
Institutional Source Beutler Lab
Gene Symbol Krt73
Ensembl Gene ENSMUSG00000063661
Gene Name keratin 73
Synonyms
MMRRC Submission 045563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R7489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 101701743-101710781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 101702294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 523 (V523G)
Ref Sequence ENSEMBL: ENSMUSP00000065349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063292]
AlphaFold Q6NXH9
Predicted Effect probably benign
Transcript: ENSMUST00000063292
AA Change: V523G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: V523G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,122 (GRCm39) V123D probably damaging Het
4930503E14Rik A T 14: 44,407,756 (GRCm39) N92K probably damaging Het
4930519G04Rik T C 5: 115,017,686 (GRCm39) S166P unknown Het
Abtb3 T A 10: 85,463,079 (GRCm39) Y615N probably damaging Het
Adgrb3 G A 1: 25,586,586 (GRCm39) T369I probably damaging Het
Agbl4 T C 4: 111,383,855 (GRCm39) S237P probably damaging Het
Ahi1 T C 10: 20,839,649 (GRCm39) C187R probably benign Het
Akap9 C T 5: 4,054,933 (GRCm39) T1626M probably damaging Het
Alas1 A T 9: 106,118,833 (GRCm39) probably null Het
Apbb1 G T 7: 105,216,687 (GRCm39) T301N probably benign Het
Arhgap42 A G 9: 9,006,359 (GRCm39) V679A probably benign Het
Atp2a2 T C 5: 122,605,830 (GRCm39) D375G probably benign Het
Best1 A G 19: 9,974,410 (GRCm39) S45P possibly damaging Het
Bpifb4 A C 2: 153,785,924 (GRCm39) T21P probably damaging Het
Cdx2 A T 5: 147,243,482 (GRCm39) M104K probably benign Het
Ces1d A T 8: 93,904,759 (GRCm39) L327Q probably damaging Het
Ces2e A G 8: 105,656,412 (GRCm39) H214R probably benign Het
Chd5 G A 4: 152,457,925 (GRCm39) G1014D probably damaging Het
Cmya5 T A 13: 93,228,346 (GRCm39) K2247N possibly damaging Het
Dip2c T C 13: 9,583,348 (GRCm39) V110A probably damaging Het
Fancd2 T C 6: 113,541,265 (GRCm39) S724P probably benign Het
Galnt1 T A 18: 24,415,214 (GRCm39) V485D probably damaging Het
Garin3 G C 11: 46,298,268 (GRCm39) G524A Het
Gli2 A G 1: 118,765,905 (GRCm39) S749P probably benign Het
H2-M5 A C 17: 37,300,363 (GRCm39) L12V unknown Het
Iqcf6 C A 9: 106,504,656 (GRCm39) Q107K probably benign Het
Itfg1 C T 8: 86,493,630 (GRCm39) C283Y probably damaging Het
Jak3 A C 8: 72,136,936 (GRCm39) K704T probably damaging Het
Kl A T 5: 150,876,461 (GRCm39) T94S probably damaging Het
Lap3 T C 5: 45,657,848 (GRCm39) F215L probably damaging Het
Lce1c G A 3: 92,587,954 (GRCm39) C127Y unknown Het
Map6 C T 7: 98,917,268 (GRCm39) R14C probably damaging Het
Mcm10 T A 2: 5,006,112 (GRCm39) K410M probably damaging Het
Med23 T A 10: 24,780,254 (GRCm39) N967K probably damaging Het
Mmp8 A T 9: 7,561,388 (GRCm39) T131S probably benign Het
Ms4a14 T C 19: 11,279,395 (GRCm39) I1054M probably benign Het
Mup14 A G 4: 61,259,887 (GRCm39) M1T probably null Het
Myzap T A 9: 71,468,320 (GRCm39) T110S probably benign Het
Nmrk1 A T 19: 18,619,606 (GRCm39) K153M probably damaging Het
Nmrk1 G T 19: 18,619,607 (GRCm39) K153N possibly damaging Het
Or4x12-ps1 T A 2: 89,916,704 (GRCm39) M34L probably benign Het
Or6c70 A T 10: 129,710,551 (GRCm39) I25N probably damaging Het
Pcdh12 T C 18: 38,414,842 (GRCm39) H761R possibly damaging Het
Pde4d C A 13: 109,253,301 (GRCm39) L43I unknown Het
Prrc2a A T 17: 35,381,330 (GRCm39) S46R unknown Het
Rab19 A G 6: 39,365,039 (GRCm39) T100A probably benign Het
Rad51b C T 12: 79,347,359 (GRCm39) R8* probably null Het
Sclt1 A T 3: 41,584,032 (GRCm39) L642Q probably damaging Het
Scyl3 T C 1: 163,776,745 (GRCm39) I392T possibly damaging Het
Sipa1l3 A G 7: 29,066,127 (GRCm39) W1076R probably damaging Het
Slc12a9 C A 5: 137,321,082 (GRCm39) A478S probably damaging Het
Slc5a9 C A 4: 111,741,113 (GRCm39) C511F probably damaging Het
Sspo T C 6: 48,450,647 (GRCm39) L2612P probably damaging Het
Synrg C T 11: 83,881,651 (GRCm39) T329I probably benign Het
Tdrd9 A G 12: 112,034,071 (GRCm39) T1338A probably benign Het
Tenm4 A T 7: 96,486,521 (GRCm39) D996V possibly damaging Het
Ticam2 T A 18: 46,693,584 (GRCm39) I168L probably damaging Het
Tom1l1 T C 11: 90,547,185 (GRCm39) I374M probably benign Het
Trip10 A T 17: 57,557,966 (GRCm39) K51I probably damaging Het
Trpc6 T A 9: 8,656,545 (GRCm39) D735E probably benign Het
Trpm8 T A 1: 88,307,481 (GRCm39) N1050K possibly damaging Het
Tuba8 A T 6: 121,202,980 (GRCm39) D431V probably damaging Het
Ucn2 C T 9: 108,815,322 (GRCm39) T28I possibly damaging Het
Vmn1r21 C T 6: 57,820,877 (GRCm39) G189D probably damaging Het
Vmn2r8 T C 5: 108,945,522 (GRCm39) N695S possibly damaging Het
Xirp2 A C 2: 67,355,904 (GRCm39) N3555T possibly damaging Het
Zfp119a A T 17: 56,173,158 (GRCm39) H228Q probably damaging Het
Zfr T A 15: 12,153,068 (GRCm39) H566Q 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
R6807:Krt73 UTSW 15 101,704,842 (GRCm39) missense probably damaging 1.00
R6885:Krt73 UTSW 15 101,704,833 (GRCm39) missense probably damaging 1.00
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'- AGGGTTTGATGATAAGGCCACG -3'
(R):5'- TTCCACAGCTGTCATCAGTAG -3'

Sequencing Primer
(F):5'- TTGATGATAAGGCCACGTTGAC -3'
(R):5'- ACAGCTGTCATCAGTAGTTCCG -3'
Posted On 2019-10-07