Incidental Mutation 'R7424:Krt39'
ID575939
Institutional Source Beutler Lab
Gene Symbol Krt39
Ensembl Gene ENSMUSG00000064165
Gene Namekeratin 39
Synonyms4732494G06Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R7424 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location99514114-99521338 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99518091 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 293 (V293E)
Ref Sequence ENSEMBL: ENSMUSP00000076216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076948] [ENSMUST00000107445]
Predicted Effect probably damaging
Transcript: ENSMUST00000076948
AA Change: V293E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076216
Gene: ENSMUSG00000064165
AA Change: V293E

DomainStartEndE-ValueType
Pfam:Filament 90 401 7.9e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107445
AA Change: V293E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165
AA Change: V293E

DomainStartEndE-ValueType
Filament 90 401 2.63e-130 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (76/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,145,545 R71C probably damaging Het
Aanat A T 11: 116,595,629 probably benign Het
Ahrr G T 13: 74,257,545 S91* probably null Het
Ampd1 A T 3: 103,088,442 N223Y probably benign Het
Ankar T G 1: 72,680,058 N544T probably damaging Het
Ankk1 A G 9: 49,418,750 S302P possibly damaging Het
Bcr T C 10: 75,157,100 V809A probably benign Het
Bpifb2 A G 2: 153,890,540 N353S possibly damaging Het
Cyth1 A T 11: 118,184,009 probably null Het
Ddx5 A T 11: 106,782,180 N506K probably benign Het
Dnaja1 A T 4: 40,730,244 I239F probably benign Het
Ethe1 C T 7: 24,606,251 T141I probably damaging Het
Fam160b2 T C 14: 70,594,007 H29R probably damaging Het
Gdap2 A T 3: 100,202,066 I36F unknown Het
Gm13030 A T 4: 138,871,266 D115E unknown Het
Gm13103 C T 4: 143,853,209 P455S probably benign Het
Gm17019 A T 5: 15,029,372 L227Q probably damaging Het
Gm9195 T A 14: 72,435,777 E2517D possibly damaging Het
Gramd2 T A 9: 59,708,071 V39D possibly damaging Het
Hmcn1 C T 1: 150,630,266 W3836* probably null Het
Hspa14 C T 2: 3,489,041 D494N possibly damaging Het
Ifit2 A G 19: 34,573,198 N46S probably benign Het
Ifna6 A T 4: 88,827,807 E131V possibly damaging Het
Ift140 T C 17: 25,037,036 V504A possibly damaging Het
Irgc1 T C 7: 24,432,228 N388S probably damaging Het
Itgal T A 7: 127,317,365 V743E probably benign Het
Itih5 T C 2: 10,245,637 S716P probably damaging Het
Kcnab1 A T 3: 65,266,503 K78N possibly damaging Het
Kif1a A T 1: 93,054,317 V787E possibly damaging Het
Krt15 A T 11: 100,135,560 V100E possibly damaging Het
Lrrn4 A G 2: 132,869,743 F720S possibly damaging Het
Map2 G A 1: 66,414,824 A958T possibly damaging Het
Map3k9 A G 12: 81,724,097 S906P probably benign Het
Mdc1 T C 17: 35,853,309 S1250P probably benign Het
Meltf G A 16: 31,884,946 V164I probably damaging Het
Mtap T G 4: 89,179,462 probably null Het
Mtus1 C A 8: 41,022,406 V184F probably damaging Het
Myh1 A T 11: 67,213,663 D1015V probably damaging Het
Ndrg1 T C 15: 66,944,938 probably null Het
Nkd1 G T 8: 88,585,175 V130L probably benign Het
Nsfl1c A G 2: 151,500,753 D81G probably benign Het
Nt5c1b T A 12: 10,381,391 probably null Het
Nucb1 T C 7: 45,498,778 K204E possibly damaging Het
Nwd1 T G 8: 72,675,173 M774R possibly damaging Het
Olfr165 A T 16: 19,407,194 V274E probably damaging Het
Olfr262 A T 19: 12,240,954 S236T possibly damaging Het
Olfr654 G C 7: 104,588,700 E299Q probably damaging Het
Pan3 T A 5: 147,536,272 probably null Het
Pcdh15 A T 10: 74,506,485 T1135S probably benign Het
Pfas A G 11: 69,000,092 I331T probably damaging Het
Plxna2 T A 1: 194,806,339 I1641N probably damaging Het
Ptar1 A T 19: 23,718,101 R311W probably damaging Het
Ranbp2 T G 10: 58,479,194 M1912R probably damaging Het
Rbm12 A G 2: 156,097,303 F350L possibly damaging Het
Sdhaf1 T C 7: 30,322,043 D96G probably benign Het
Serpinb6b T A 13: 32,968,667 M53K probably damaging Het
Sh2d6 A T 6: 72,517,164 L147Q probably benign Het
Slc19a2 T A 1: 164,260,876 C298S probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 probably benign Het
St8sia2 T A 7: 73,960,902 Q211L possibly damaging Het
Sult2a2 T C 7: 13,734,897 I96T possibly damaging Het
Tab2 G T 10: 7,907,483 H678Q probably damaging Het
Tnfaip6 A G 2: 52,038,216 E14G probably benign Het
Trip11 A T 12: 101,885,198 L869H probably damaging Het
Tslp T C 18: 32,819,080 Y133H not run Het
Ttn T C 2: 76,740,990 I26520V probably damaging Het
Ttn A G 2: 76,932,143 V3374A unknown Het
Tubgcp2 T A 7: 140,007,924 I263F possibly damaging Het
Uaca A G 9: 60,870,110 E593G probably damaging Het
Unc13b C T 4: 43,172,235 T1021I unknown Het
Ush1c T A 7: 46,225,555 I131F probably benign Het
Usp24 C A 4: 106,379,107 D997E probably benign Het
Usp54 T C 14: 20,577,040 T517A probably benign Het
Vmn1r151 A T 7: 22,499,080 M200K possibly damaging Het
Vmn2r43 T C 7: 8,255,329 D295G probably damaging Het
Vmn2r70 G A 7: 85,563,868 P444S probably damaging Het
Vmn2r85 G T 10: 130,418,980 P612T probably damaging Het
Vps13d A T 4: 145,148,747 V1736D Het
Zbtb11 A T 16: 55,990,487 H336L probably benign Het
Other mutations in Krt39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Krt39 APN 11 99519063 missense probably damaging 0.97
IGL02179:Krt39 APN 11 99520841 missense probably damaging 1.00
IGL02478:Krt39 APN 11 99520897 missense probably benign 0.37
IGL02578:Krt39 APN 11 99521206 missense probably benign 0.00
IGL03090:Krt39 APN 11 99519007 splice site probably benign
IGL03094:Krt39 APN 11 99520802 splice site probably benign
R0532:Krt39 UTSW 11 99514791 missense possibly damaging 0.92
R0789:Krt39 UTSW 11 99521062 missense probably benign 0.00
R1856:Krt39 UTSW 11 99519088 nonsense probably null
R1920:Krt39 UTSW 11 99514635 missense probably benign 0.00
R1944:Krt39 UTSW 11 99519823 missense probably damaging 1.00
R4391:Krt39 UTSW 11 99514752 missense probably benign 0.01
R4678:Krt39 UTSW 11 99521000 missense probably benign 0.02
R4921:Krt39 UTSW 11 99514749 missense possibly damaging 0.80
R5800:Krt39 UTSW 11 99521145 missense probably benign 0.09
R6207:Krt39 UTSW 11 99521215 missense probably damaging 1.00
R6904:Krt39 UTSW 11 99519821 missense probably damaging 1.00
R7034:Krt39 UTSW 11 99521236 missense probably benign 0.19
R7036:Krt39 UTSW 11 99521236 missense probably benign 0.19
R7131:Krt39 UTSW 11 99520871 missense probably benign
R7449:Krt39 UTSW 11 99518061 missense probably benign 0.02
R7627:Krt39 UTSW 11 99514749 missense possibly damaging 0.80
R7784:Krt39 UTSW 11 99521031 nonsense probably null
R7827:Krt39 UTSW 11 99519075 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCGTAACACTCAGTCACCG -3'
(R):5'- CCTTCTGTTGACCTAAATCAAATCC -3'

Sequencing Primer
(F):5'- GTAACACTCAGTCACCGGGGAC -3'
(R):5'- TCCTACAAGAAATGAGATGCCGGTAC -3'
Posted On2019-10-07