Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Krt1c'

485794

Institutional Source

Beutler Lab

Gene Symbol

Krt1c

Ensembl Gene

Gene Name

keratin 1 complex

Synonyms

Krt-2, Krt2

MMRRC Submission

044269-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

(GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 101724349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 305 (T305S)

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: T305S

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

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: T305S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,750 (GRCm39)	*301W	probably null	Het
Abat	A	G	16: 8,423,414 (GRCm39)	I236V	probably benign	Het
Abca8a	T	C	11: 109,961,249 (GRCm39)	T558A	probably benign	Het
Ace3	A	C	11: 105,885,764 (GRCm39)	M57L	probably benign	Het
Adgrg1	T	C	8: 95,729,129 (GRCm39)	S18P	probably benign	Het
Ahi1	A	G	10: 20,934,064 (GRCm39)	D60G	probably benign	Het
Ap4e1	T	A	2: 126,870,080 (GRCm39)		probably null	Het
Arnt2	C	A	7: 84,010,773 (GRCm39)	K34N	probably damaging	Het
Ascc3	T	A	10: 50,494,021 (GRCm39)	M152K	probably benign	Het
AW551984	A	T	9: 39,505,051 (GRCm39)	F480L	probably benign	Het
Blvrb	G	A	7: 27,158,773 (GRCm39)	A58T	possibly damaging	Het
Bpifa1	C	T	2: 153,985,892 (GRCm39)	T69I	probably benign	Het
Cacna1g	T	A	11: 94,320,997 (GRCm39)	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,880 (GRCm39)	I361V	probably benign	Het
Clca4b	T	A	3: 144,631,927 (GRCm39)	I193F	possibly damaging	Het
Crb1	A	T	1: 139,176,686 (GRCm39)	Y371*	probably null	Het
Cul9	T	C	17: 46,832,854 (GRCm39)	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,332,877 (GRCm39)	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,086,637 (GRCm39)	S780T	probably benign	Het
Fzd5	G	T	1: 64,774,815 (GRCm39)	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695 (GRCm39)	S340P	probably damaging	Het
Galnt7	T	C	8: 57,979,200 (GRCm39)	D641G	probably damaging	Het
Gm7133	A	G	1: 97,110,948 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,120,602 (GRCm39)	L774P	possibly damaging	Het
Itch	T	A	2: 155,015,985 (GRCm39)	S157T	probably benign	Het
Itgam	A	C	7: 127,684,824 (GRCm39)	D398A	probably damaging	Het
Kalrn	G	T	16: 33,805,561 (GRCm39)	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,468,875 (GRCm39)	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,758,573 (GRCm39)		probably benign	Het
Mcm3ap	A	G	10: 76,342,441 (GRCm39)	N1645D	probably damaging	Het
Naf1	T	A	8: 67,336,096 (GRCm39)	I341K	probably damaging	Het
Nbea	G	T	3: 55,937,317 (GRCm39)	H765N	probably damaging	Het
Ncapd3	A	G	9: 26,975,278 (GRCm39)	I776V	probably benign	Het
Neo1	A	T	9: 58,824,291 (GRCm39)	D712E	probably benign	Het
Neu1	G	A	17: 35,153,730 (GRCm39)	V385I	probably benign	Het
Or14j3	C	A	17: 37,900,817 (GRCm39)	R142S	probably benign	Het
Or51a6	C	A	7: 102,604,011 (GRCm39)	G273C	probably damaging	Het
Or51a6	A	G	7: 102,604,737 (GRCm39)	Y24H	probably benign	Het
Pgghg	A	C	7: 140,523,308 (GRCm39)	T196P	possibly damaging	Het
Pira2	A	T	7: 3,845,445 (GRCm39)	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,809,107 (GRCm39)	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509 (GRCm39)	N21K	probably damaging	Het
Prune1	T	C	3: 95,169,554 (GRCm39)	D216G	probably benign	Het
Ptpn23	G	T	9: 110,216,893 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,301,351 (GRCm39)	M668K	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpsa	G	T	9: 119,960,102 (GRCm39)	V222L	probably benign	Het
Septin2	A	G	1: 93,425,098 (GRCm39)	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,445,384 (GRCm39)	D260V	probably damaging	Het
Srrm2	G	T	17: 24,039,330 (GRCm39)	M2087I	possibly damaging	Het
Tg	T	C	15: 66,700,306 (GRCm39)	L88P	probably damaging	Het
Tns1	A	G	1: 73,991,578 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,224,160 (GRCm39)	D1429V	probably benign	Het
Tprg1	A	G	16: 25,241,151 (GRCm39)		probably null	Het
Trit1	T	C	4: 122,933,261 (GRCm39)	I66T	possibly damaging	Het
Usf3	A	T	16: 44,037,670 (GRCm39)	I717L	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
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
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'- TATGGAAGTTAAAACACAGAGGCCC -3'
(R):5'- GGATTTGGAGCTCAAACATGC -3'

Sequencing Primer
(F):5'- AGAGGCCCTGTTCTTCTCAGAAG -3'
(R):5'- ACTGCAGTTGTCTTCTGG -3'

Posted On

2017-08-16