Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01316:Krt1c'

73843

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 #

IGL01316

Quality Score

Status

Chromosome

Chromosomal Location

(GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101719646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 675 (R675G)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023712
AA Change: R675G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: R675G

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
Abca4	T	C	3: 121,935,404 (GRCm39)	V326A	probably damaging	Het
Aldh1l1	A	G	6: 90,575,362 (GRCm39)	D883G	probably damaging	Het
Ankk1	A	G	9: 49,331,784 (GRCm39)		probably benign	Het
Cacna1s	T	C	1: 136,046,702 (GRCm39)	V1796A	probably benign	Het
Ccdc186	A	C	19: 56,801,845 (GRCm39)	C91G	probably benign	Het
Clec5a	T	C	6: 40,559,196 (GRCm39)	T63A	probably benign	Het
Cyp3a11	T	A	5: 145,791,961 (GRCm39)	K477N	possibly damaging	Het
Dram2	T	A	3: 106,480,296 (GRCm39)	V116E	possibly damaging	Het
Dram2	T	C	3: 106,478,950 (GRCm39)	Y181H	probably benign	Het
Eps15l1	A	T	8: 73,143,258 (GRCm39)	F184L	possibly damaging	Het
Greb1	T	A	12: 16,748,587 (GRCm39)	H1102L	probably benign	Het
Inpp5f	G	A	7: 128,292,430 (GRCm39)		probably benign	Het
Kcng1	T	C	2: 168,110,960 (GRCm39)	N68S	probably damaging	Het
Klhl41	A	G	2: 69,505,068 (GRCm39)	D457G	probably benign	Het
Med13l	T	A	5: 118,900,846 (GRCm39)	V2200D	probably damaging	Het
Mme	T	A	3: 63,247,580 (GRCm39)		probably benign	Het
Nexn	A	T	3: 151,952,870 (GRCm39)	F283L	probably benign	Het
Noxa1	T	C	2: 24,976,023 (GRCm39)	D389G	probably benign	Het
Or2n1c	A	G	17: 38,519,388 (GRCm39)	N84S	probably damaging	Het
Or7g21	A	G	9: 19,032,718 (GRCm39)	I156V	probably benign	Het
Parp1	A	G	1: 180,420,500 (GRCm39)		probably benign	Het
Pirt	T	C	11: 66,816,772 (GRCm39)	S28P	probably damaging	Het
Ros1	A	G	10: 51,963,975 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,758,791 (GRCm39)	T478A	probably benign	Het
Secisbp2	T	C	13: 51,808,552 (GRCm39)	S106P	probably benign	Het
Shroom1	C	T	11: 53,356,385 (GRCm39)	A416V	probably damaging	Het
Ski	C	T	4: 155,306,143 (GRCm39)	A279T	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tab2	A	G	10: 7,800,468 (GRCm39)	V28A	probably damaging	Het
Tmem126a	G	A	7: 90,101,927 (GRCm39)	P91S	probably damaging	Het
Ucma	T	C	2: 4,986,042 (GRCm39)		probably benign	Het

Other mutations in Krt1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-10-07