Mutagenetix > Incidental Mutation

Incidental Mutation 'R2283:Krt1c'

243227

Institutional Source

Beutler Lab

Gene Symbol

Krt1c

Ensembl Gene

Gene Name

keratin 1 complex

Synonyms

Krt-2, Krt2

MMRRC Submission

040282-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2283 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

(GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101722822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 392 (Y392C)

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: Y392C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: Y392C

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: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,253,635 (GRCm39)	E1235G	probably damaging	Het
Anapc1	A	T	2: 128,484,468 (GRCm39)	H1165Q	probably benign	Het
Bhmt	G	A	13: 93,756,809 (GRCm39)	P273L	probably damaging	Het
Clec18a	A	G	8: 111,802,140 (GRCm39)	V283A	probably benign	Het
Dlg5	G	A	14: 24,208,731 (GRCm39)	P825L	probably benign	Het
Fas	G	A	19: 34,284,649 (GRCm39)	G52D	probably damaging	Het
Fras1	T	C	5: 96,802,164 (GRCm39)	I1209T	probably benign	Het
Gpt2	T	A	8: 86,242,818 (GRCm39)	D283E	probably benign	Het
Hrh1	C	T	6: 114,457,400 (GRCm39)	T227I	probably benign	Het
Kif26a	T	C	12: 112,143,787 (GRCm39)	F1347S	possibly damaging	Het
Masp2	A	G	4: 148,690,525 (GRCm39)	K261E	probably benign	Het
Nav2	G	T	7: 49,141,152 (GRCm39)	R899L	probably damaging	Het
Nuggc	T	C	14: 65,876,061 (GRCm39)	V574A	possibly damaging	Het
Or2b6	G	A	13: 21,823,190 (GRCm39)	R168C	probably damaging	Het
Pcsk4	T	C	10: 80,158,584 (GRCm39)	E556G	probably damaging	Het
Ppa1	G	A	10: 61,496,788 (GRCm39)	W92*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sp3	A	C	2: 72,801,521 (GRCm39)	I164S	possibly damaging	Het
St8sia3	G	T	18: 64,404,801 (GRCm39)	E359D	probably damaging	Het
Usp17lb	A	G	7: 104,489,859 (GRCm39)	I355T	possibly damaging	Het
Zfp608	T	A	18: 55,121,446 (GRCm39)	K47I	probably damaging	Het
Zfp931	A	G	2: 177,711,714 (GRCm39)	V11A	possibly 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
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
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'- ACCAACCTGACAGTGACATCTG -3'
(R):5'- TAGCCCTGTGTATTGTAGGAACTG -3'

Sequencing Primer
(F):5'- GTGACATCTGTACTACTCATGACAG -3'
(R):5'- ATTGTAGGAACTGTCCCAGC -3'

Posted On

2014-10-16