Incidental Mutation 'IGL02959:Krt1c'
ID 365254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt1c
Ensembl Gene
Gene Name keratin 1 complex
Synonyms Krt-2, Krt2
Accession Numbers
Essential gene? Not available question?
Stock # IGL02959
Quality Score
Status
Chromosome 15
Chromosomal Location (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101719763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 636 (S636T)
Ref Sequence ENSEMBL: ENSMUSP00000023712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023712]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000023712
AA Change: S636T
SMART Domains Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: S636T

DomainStartEndE-ValueType
Pfam:Keratin_2_head 23 195 3.6e-26 PFAM
Filament 198 511 4.22e-152 SMART
low complexity region 520 533 N/A INTRINSIC
low complexity region 538 701 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,544,023 (GRCm39) A506D probably benign Het
Agap1 G T 1: 89,770,913 (GRCm39) V635L possibly damaging Het
Akr1c12 T C 13: 4,329,331 (GRCm39) K9E probably benign Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Bcr T C 10: 74,996,222 (GRCm39) F922S probably benign Het
Cfap44 T A 16: 44,291,230 (GRCm39) probably benign Het
Chil5 A G 3: 105,926,906 (GRCm39) V243A probably damaging Het
Csmd1 A G 8: 15,960,465 (GRCm39) C3317R probably damaging Het
Dsc1 T C 18: 20,241,942 (GRCm39) K133R probably damaging Het
Ecm1 T A 3: 95,644,989 (GRCm39) Q136L probably damaging Het
Fscn3 C A 6: 28,435,997 (GRCm39) A431E possibly damaging Het
Gas7 C T 11: 67,565,061 (GRCm39) probably benign Het
Gbx2 A G 1: 89,856,517 (GRCm39) V291A probably damaging Het
Hipk3 G A 2: 104,301,604 (GRCm39) T196M probably damaging Het
Il20ra T A 10: 19,634,789 (GRCm39) N343K probably benign Het
Il24 C T 1: 130,813,470 (GRCm39) W42* probably null Het
Kif13b A T 14: 65,005,166 (GRCm39) I1153F probably damaging Het
Or11g24 A T 14: 50,662,389 (GRCm39) M138L possibly damaging Het
Or13a25 C T 7: 140,247,463 (GRCm39) P81S probably damaging Het
Or14c40 T C 7: 86,313,737 (GRCm39) F289S probably damaging Het
Or4k52 T A 2: 111,610,955 (GRCm39) C97S probably damaging Het
Or6d15 A T 6: 116,559,505 (GRCm39) M134K probably damaging Het
Osmr T C 15: 6,845,378 (GRCm39) D796G possibly damaging Het
Peli2 A T 14: 48,477,754 (GRCm39) T99S probably benign Het
Pi4k2a A T 19: 42,101,510 (GRCm39) K317N probably benign Het
Pik3r1 T G 13: 101,894,037 (GRCm39) D44A probably benign Het
Pkhd1 G T 1: 20,678,640 (GRCm39) S96* probably null Het
Plekha5 A G 6: 140,489,904 (GRCm39) E9G probably damaging Het
Plekha8 T C 6: 54,592,254 (GRCm39) F71S probably damaging Het
Polq G T 16: 36,906,928 (GRCm39) L2296F probably damaging Het
Rbm5 G A 9: 107,631,384 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,295,366 (GRCm39) K217E probably damaging Het
Scrib A G 15: 75,937,056 (GRCm39) L350P probably damaging Het
Slc4a10 T A 2: 62,098,487 (GRCm39) S540R probably damaging Het
Smc3 G T 19: 53,611,988 (GRCm39) V354L probably benign Het
Smurf1 T A 5: 144,836,199 (GRCm39) I105F probably damaging Het
Stx7 G T 10: 24,031,247 (GRCm39) R17L probably benign Het
Tbca C T 13: 94,979,203 (GRCm39) R74C probably benign Het
Tmem92 T C 11: 94,669,504 (GRCm39) Q153R possibly damaging Het
Trim41 C A 11: 48,698,307 (GRCm39) G553V probably damaging Het
Trim75 A T 8: 65,435,417 (GRCm39) N344K possibly damaging Het
Tsr1 A G 11: 74,791,075 (GRCm39) D218G probably benign Het
Ubr2 A C 17: 47,286,877 (GRCm39) V474G probably damaging Het
Unc45a T G 7: 79,982,721 (GRCm39) probably benign Het
Zfp609 C T 9: 65,610,675 (GRCm39) A763T probably benign Het
Other mutations in Krt1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Krt1c APN 15 101,719,646 (GRCm39) missense probably benign 0.23
IGL01568:Krt1c APN 15 101,721,646 (GRCm39) missense probably damaging 1.00
IGL01586:Krt1c APN 15 101,719,825 (GRCm39) missense unknown
IGL01667:Krt1c APN 15 101,724,765 (GRCm39) missense possibly damaging 0.85
IGL02017:Krt1c APN 15 101,724,939 (GRCm39) missense probably damaging 1.00
IGL02022:Krt1c APN 15 101,724,953 (GRCm39) missense probably damaging 1.00
IGL02538:Krt1c APN 15 101,719,589 (GRCm39) missense unknown
IGL03295:Krt1c APN 15 101,724,864 (GRCm39) missense probably damaging 0.99
R0195:Krt1c UTSW 15 101,721,626 (GRCm39) nonsense probably null
R0472:Krt1c UTSW 15 101,721,688 (GRCm39) missense probably damaging 1.00
R0749:Krt1c UTSW 15 101,726,098 (GRCm39) missense unknown
R0785:Krt1c UTSW 15 101,726,356 (GRCm39) missense unknown
R0792:Krt1c UTSW 15 101,724,932 (GRCm39) missense probably damaging 1.00
R1232:Krt1c UTSW 15 101,720,219 (GRCm39) missense probably damaging 1.00
R1281:Krt1c UTSW 15 101,721,727 (GRCm39) missense probably damaging 1.00
R1770:Krt1c UTSW 15 101,719,589 (GRCm39) missense unknown
R1783:Krt1c UTSW 15 101,722,408 (GRCm39) missense probably damaging 1.00
R1795:Krt1c UTSW 15 101,724,861 (GRCm39) missense possibly damaging 0.85
R2283:Krt1c UTSW 15 101,722,822 (GRCm39) missense probably damaging 1.00
R3977:Krt1c UTSW 15 101,719,562 (GRCm39) missense unknown
R4575:Krt1c UTSW 15 101,722,921 (GRCm39) missense probably damaging 1.00
R4619:Krt1c UTSW 15 101,726,026 (GRCm39) missense probably damaging 1.00
R4620:Krt1c UTSW 15 101,726,026 (GRCm39) missense probably damaging 1.00
R4766:Krt1c UTSW 15 101,722,395 (GRCm39) missense probably damaging 1.00
R4819:Krt1c UTSW 15 101,719,979 (GRCm39) missense unknown
R4953:Krt1c UTSW 15 101,722,377 (GRCm39) missense probably damaging 1.00
R5108:Krt1c UTSW 15 101,721,721 (GRCm39) missense possibly damaging 0.88
R5973:Krt1c UTSW 15 101,724,747 (GRCm39) missense probably damaging 0.99
R6122:Krt1c UTSW 15 101,724,349 (GRCm39) missense probably damaging 1.00
R6180:Krt1c UTSW 15 101,723,479 (GRCm39) missense probably benign 0.05
R6661:Krt1c UTSW 15 101,724,398 (GRCm39) missense probably damaging 1.00
R6974:Krt1c UTSW 15 101,726,314 (GRCm39) missense unknown
R6993:Krt1c UTSW 15 101,724,395 (GRCm39) missense probably damaging 1.00
R7104:Krt1c UTSW 15 101,723,522 (GRCm39) missense probably benign 0.09
R7573:Krt1c UTSW 15 101,722,954 (GRCm39) missense probably benign 0.05
R7947:Krt1c UTSW 15 101,724,769 (GRCm39) missense probably damaging 1.00
R8469:Krt1c UTSW 15 101,724,804 (GRCm39) missense probably benign 0.22
R8805:Krt1c UTSW 15 101,724,379 (GRCm39) missense possibly damaging 0.93
R9051:Krt1c UTSW 15 101,726,317 (GRCm39) missense unknown
R9118:Krt1c UTSW 15 101,722,976 (GRCm39) missense probably damaging 0.99
R9230:Krt1c UTSW 15 101,725,948 (GRCm39) missense probably benign 0.39
R9257:Krt1c UTSW 15 101,724,926 (GRCm39) missense probably benign 0.05
R9424:Krt1c UTSW 15 101,719,792 (GRCm39) missense unknown
R9569:Krt1c UTSW 15 101,724,924 (GRCm39) missense probably damaging 1.00
R9576:Krt1c UTSW 15 101,719,792 (GRCm39) missense unknown
RF020:Krt1c UTSW 15 101,726,403 (GRCm39) missense unknown
Z1177:Krt1c UTSW 15 101,719,985 (GRCm39) nonsense probably null
Posted On 2015-12-18