Mutagenetix > Incidental Mutation

Incidental Mutation 'R1281:Krt1c'

151037

Institutional Source

Beutler Lab

Gene Symbol

Krt1c

Ensembl Gene

Gene Name

keratin 1 complex

Synonyms

Krt-2, Krt2

MMRRC Submission

039347-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1281 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

(GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101721727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 438 (C438F)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023712]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023712
AA Change: C438F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: C438F

Domain	Start	End	E-Value	Type
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

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	T	1: 173,287,377 (GRCm39)	K126*	probably null	Het
C9	A	T	15: 6,519,321 (GRCm39)	N386I	possibly damaging	Het
Csnk1e	A	C	15: 79,304,841 (GRCm39)	N387K	possibly damaging	Het
Cul9	T	C	17: 46,822,460 (GRCm39)	T1758A	probably damaging	Het
Dcaf17	A	G	2: 70,908,500 (GRCm39)	I256V	probably damaging	Het
Duox1	G	A	2: 122,157,569 (GRCm39)	C565Y	probably damaging	Het
Fchsd2	A	G	7: 100,902,759 (GRCm39)	H379R	possibly damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Mast4	G	A	13: 102,887,086 (GRCm39)	T1001I	probably damaging	Het
Mrc1	T	C	2: 14,298,321 (GRCm39)	F726L	probably damaging	Het
Mroh2a	T	TN	1: 88,183,889 (GRCm39)		probably null	Het
Mttp	T	C	3: 137,812,980 (GRCm39)	N550S	possibly damaging	Het
Necap1	G	T	6: 122,851,573 (GRCm39)	D16Y	possibly damaging	Het
Nox3	A	T	17: 3,746,460 (GRCm39)	I26N	probably damaging	Het
Patj	T	C	4: 98,304,932 (GRCm39)	I262T	probably damaging	Het
Pcdh8	T	C	14: 80,005,166 (GRCm39)	E953G	probably damaging	Het
Pirb	A	T	7: 3,720,189 (GRCm39)	C395S	probably damaging	Het
Sacs	A	G	14: 61,429,250 (GRCm39)	I433M	probably benign	Het
Sclt1	A	G	3: 41,602,055 (GRCm39)	F552L	probably benign	Het
Smc5	T	C	19: 23,213,247 (GRCm39)	N479S	probably benign	Het
Tg	G	A	15: 66,568,338 (GRCm39)	V1342I	probably benign	Het
Ube2n	C	A	10: 95,377,618 (GRCm39)	N132K	probably benign	Het
Vmn2r55	A	T	7: 12,404,825 (GRCm39)	C193S	probably benign	Het
Zc3hav1	A	G	6: 38,330,872 (GRCm39)	C96R	probably damaging	Het
Zfp60	T	A	7: 27,437,852 (GRCm39)	V53E	probably damaging	Het

Other mutations in Krt1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02959:Krt1c	APN	15	101,719,763 (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
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

Predicted Primers

PCR Primer
(F):5'- CCTGGAAGTCTGCTTGGAGAAACC -3'
(R):5'- GCTGTTTGCTAGGGACATAGTCTGC -3'

Sequencing Primer
(F):5'- GCTTGGAGAAACCTATTGATGCC -3'
(R):5'- CTGAATAGGTAGCAGAGCTTCC -3'

Posted On

2014-01-29