Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02017:Krt1c'

183790

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 #

IGL02017

Quality Score

Status

Chromosome

Chromosomal Location

(GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101724939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 224 (N224D)

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: N224D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: N224D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,271,775 (GRCm39)	I544N	probably benign	Het
Ago2	T	C	15: 72,998,366 (GRCm39)	T271A	probably benign	Het
Aox3	A	C	1: 58,160,151 (GRCm39)	K111N	probably damaging	Het
Arhgap39	G	A	15: 76,621,237 (GRCm39)	R455C	probably damaging	Het
Brcc3	A	G	X: 74,466,389 (GRCm39)	D67G	possibly damaging	Het
Crot	T	G	5: 9,020,046 (GRCm39)		probably benign	Het
Dipk1c	A	T	18: 84,754,950 (GRCm39)	D142V	probably damaging	Het
Dusp5	A	G	19: 53,525,937 (GRCm39)	H193R	probably damaging	Het
Ect2	G	A	3: 27,176,193 (GRCm39)	R644*	probably null	Het
Epn3	A	G	11: 94,385,852 (GRCm39)	S190P	probably benign	Het
Fam3c	A	G	6: 22,343,276 (GRCm39)	M1T	probably null	Het
Kif4	A	G	X: 99,681,960 (GRCm39)	N197S	probably benign	Het
Lama1	A	G	17: 68,071,720 (GRCm39)	H869R	probably benign	Het
Lrrc14	G	T	15: 76,597,942 (GRCm39)	R224L	probably damaging	Het
Macf1	T	C	4: 123,393,724 (GRCm39)	D864G	probably damaging	Het
Map3k11	C	T	19: 5,747,651 (GRCm39)	S603F	possibly damaging	Het
Mxra7	A	G	11: 116,702,747 (GRCm39)		probably null	Het
Myo5b	C	A	18: 74,850,070 (GRCm39)	D1139E	probably damaging	Het
Nek9	T	C	12: 85,376,697 (GRCm39)	Y228C	probably damaging	Het
Nxph1	T	C	6: 9,247,743 (GRCm39)	I238T	probably damaging	Het
Or2r11	T	C	6: 42,437,758 (GRCm39)	H65R	probably benign	Het
Or5ac17	A	G	16: 59,036,310 (GRCm39)	L222P	probably damaging	Het
Or9i1	T	A	19: 13,839,595 (GRCm39)	V146E	possibly damaging	Het
Pdpn	A	G	4: 142,997,140 (GRCm39)		probably benign	Het
Plbd2	T	C	5: 120,626,623 (GRCm39)	T329A	probably damaging	Het
Ptpn6	T	C	6: 124,709,449 (GRCm39)	D8G	probably damaging	Het
Rad54l2	T	C	9: 106,631,239 (GRCm39)	D16G	possibly damaging	Het
Slc43a3	A	G	2: 84,768,585 (GRCm39)	E68G	probably damaging	Het
Snph	G	A	2: 151,442,902 (GRCm39)	R16C	probably damaging	Het
Ttn	G	A	2: 76,555,560 (GRCm39)	R28736*	probably null	Het
Vmn1r18	G	A	6: 57,366,741 (GRCm39)	A271V	probably benign	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
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
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

2014-05-07