Mutagenetix > Incidental Mutations

Incidental Mutation 'R4630:Krt1'

349145

Institutional Source

Beutler Lab

Gene Symbol

Krt1

Ensembl Gene

ENSMUSG00000046834

Gene Name

keratin 1

Synonyms

Krt-2.1, Krt2-1

MMRRC Submission

041895-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

R4630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101845426-101850794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101846187 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 543 (G543S)

Ref Sequence

ENSEMBL: ENSMUSP00000023790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023790]

Predicted Effect

unknown
Transcript: ENSMUST00000023790
AA Change: G543S

SMART Domains

Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: G543S

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	19	184	7.5e-35	PFAM
Filament	187	500	1.02e-154	SMART
Pfam:Keratin_2_tail	501	633	7.6e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231047

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a dominant mutation exhibit significant blistering and skin erosions at birth and develop severe hyperkeratosis as adults. Mice homozygous for the dominant mutation also exhibit blistering, and die before weaning age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
3110001I22Rik	T	C	16: 13,677,414	S126P	probably damaging	Het
3110070M22Rik	A	T	13: 119,488,086		probably benign	Het
4833423E24Rik	C	A	2: 85,518,646	G41*	probably null	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
BC024139	T	G	15: 76,125,094	Q240P	probably benign	Het
Bckdha	A	T	7: 25,631,459	I44N	probably damaging	Het
Brpf1	T	C	6: 113,309,906	Y32H	probably damaging	Het
Catip	A	G	1: 74,368,913		probably benign	Het
Ccdc138	T	C	10: 58,573,655	L602P	probably damaging	Het
Cilp	A	T	9: 65,279,880	T1086S	probably benign	Het
Comp	A	T	8: 70,374,382	I58F	possibly damaging	Het
Crygs	T	C	16: 22,805,518	E113G	possibly damaging	Het
Dnmt3b	C	T	2: 153,670,315	R319*	probably null	Het
Eif3a	A	G	19: 60,769,928	I804T	unknown	Het
Eif3a	A	T	19: 60,777,986	H301Q	probably benign	Het
Elf3	A	T	1: 135,256,740		probably benign	Het
Gm10384	A	G	15: 36,871,773		noncoding transcript	Het
Gm11627	T	A	11: 102,578,831		probably benign	Het
Gpr183	A	T	14: 121,954,849	Y87N	probably damaging	Het
Gpr183	G	C	14: 121,954,850	Y86*	probably null	Het
Gpr26	T	C	7: 131,966,980	V18A	probably damaging	Het
Herc1	T	A	9: 66,433,714		probably null	Het
Hint2	C	T	4: 43,656,396		probably benign	Het
Jag1	A	T	2: 137,085,979	D837E	probably damaging	Het
Jmjd1c	C	A	10: 67,157,974	S78*	probably null	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lama1	T	A	17: 67,794,300	D1929E	probably benign	Het
Macf1	T	C	4: 123,473,639	K878R	possibly damaging	Het
Mboat4	T	C	8: 34,123,954	S182P	probably damaging	Het
Muc5b	A	T	7: 141,857,984	T1556S	unknown	Het
Myo1g	T	C	11: 6,519,047	Y85C	probably damaging	Het
Ncapd2	C	A	6: 125,179,233		probably null	Het
Nox3	T	C	17: 3,693,982	D96G	possibly damaging	Het
Olfr23	T	C	11: 73,940,996	L250P	probably damaging	Het
Olfr514	T	C	7: 108,825,595	M135V	probably damaging	Het
Olfr805	A	G	10: 129,723,481	L21P	probably damaging	Het
Pacs1	C	T	19: 5,156,356		probably null	Het
Pgm5	C	A	19: 24,834,746	G141*	probably null	Het
Pik3r4	A	G	9: 105,654,899	M557V	probably benign	Het
Pld4	T	A	12: 112,765,064	V217D	probably damaging	Het
Ppp1r3c	T	C	19: 36,733,515	E285G	probably benign	Het
Pradc1	T	A	6: 85,447,293	M24L	possibly damaging	Het
Prepl	T	C	17: 85,083,231	T100A	probably benign	Het
Rmi2	C	T	16: 10,886,209	T138I	probably benign	Het
Rtkn	A	T	6: 83,152,182	K540*	probably null	Het
Sag	C	A	1: 87,834,618	T335K	probably damaging	Het
Setd4	A	G	16: 93,591,226	L124P	probably benign	Het
Sh3gl2	A	G	4: 85,379,409	D208G	probably damaging	Het
Sult4a1	T	C	15: 84,105,578	T8A	possibly damaging	Het
Tert	A	G	13: 73,648,991	D1116G	probably damaging	Het
Tlr4	A	G	4: 66,839,240	E90G	probably benign	Het
Tmem123	T	C	9: 7,791,392	L164P	probably damaging	Het
Tmem246	C	G	4: 49,586,254	V305L	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trak1	G	A	9: 121,454,425	R419Q	probably benign	Het
Trp53bp1	G	T	2: 121,207,887	A1490D	probably damaging	Het
Ttc16	T	C	2: 32,775,377		probably benign	Het
Tyw5	T	A	1: 57,388,527	Q306L	probably damaging	Het
Ube2j2	T	A	4: 155,955,258	I14N	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Zar1	A	G	5: 72,580,906	V51A	probably benign	Het
Zbtb38	T	G	9: 96,688,851	N60T	probably damaging	Het
Zfp354a	T	C	11: 51,070,218	S417P	probably damaging	Het
Zfp410	A	T	12: 84,325,736	D112V	probably damaging	Het
Zfp518a	C	T	19: 40,912,979	Q451*	probably null	Het
Zfp64	T	C	2: 168,926,543	N383S	possibly damaging	Het
Zfp687	A	T	3: 95,012,488		probably null	Het

Other mutations in Krt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Krt1	APN	15	101848193	missense	probably damaging	1.00
IGL01478:Krt1	APN	15	101846286	splice site	probably benign
IGL01919:Krt1	APN	15	101846376	missense	unknown
IGL01970:Krt1	APN	15	101846864	missense	possibly damaging	0.95
IGL02207:Krt1	APN	15	101848616	missense	possibly damaging	0.94
IGL02643:Krt1	APN	15	101847044	missense	probably benign	0.26
R0445:Krt1	UTSW	15	101847621	missense	probably damaging	1.00
R0683:Krt1	UTSW	15	101850466	missense	unknown
R1006:Krt1	UTSW	15	101847891	missense	possibly damaging	0.96
R1163:Krt1	UTSW	15	101848165	nonsense	probably null
R1217:Krt1	UTSW	15	101848981	missense	possibly damaging	0.90
R1325:Krt1	UTSW	15	101848206	splice site	probably null
R1965:Krt1	UTSW	15	101848992	missense	probably benign	0.13
R1966:Krt1	UTSW	15	101848992	missense	probably benign	0.13
R2101:Krt1	UTSW	15	101846187	missense	unknown
R2302:Krt1	UTSW	15	101846187	missense	unknown
R2697:Krt1	UTSW	15	101846929	missense	probably damaging	1.00
R3034:Krt1	UTSW	15	101850633	missense	unknown
R3079:Krt1	UTSW	15	101846187	missense	unknown
R3080:Krt1	UTSW	15	101846187	missense	unknown
R3891:Krt1	UTSW	15	101850412	missense	unknown
R3892:Krt1	UTSW	15	101850412	missense	unknown
R4180:Krt1	UTSW	15	101850378	small deletion	probably benign
R4305:Krt1	UTSW	15	101850378	small deletion	probably benign
R4334:Krt1	UTSW	15	101850378	small deletion	probably benign
R4597:Krt1	UTSW	15	101847628	missense	possibly damaging	0.90
R4625:Krt1	UTSW	15	101846187	missense	unknown
R4626:Krt1	UTSW	15	101846187	missense	unknown
R4628:Krt1	UTSW	15	101846187	missense	unknown
R4629:Krt1	UTSW	15	101846187	missense	unknown
R4631:Krt1	UTSW	15	101846187	missense	unknown
R4632:Krt1	UTSW	15	101846187	missense	unknown
R4633:Krt1	UTSW	15	101846187	missense	unknown
R4893:Krt1	UTSW	15	101850120	missense	probably damaging	1.00
R4948:Krt1	UTSW	15	101845941	missense	unknown
R5193:Krt1	UTSW	15	101845922	missense	unknown
R5254:Krt1	UTSW	15	101846368	missense	unknown
R5448:Krt1	UTSW	15	101849029	nonsense	probably null
R5494:Krt1	UTSW	15	101850714	missense	unknown
R5567:Krt1	UTSW	15	101846905	missense	probably benign	0.12
R5570:Krt1	UTSW	15	101846905	missense	probably benign	0.12
R5869:Krt1	UTSW	15	101850131	missense	probably damaging	1.00
R6200:Krt1	UTSW	15	101850378	small deletion	probably benign
R6224:Krt1	UTSW	15	101850267	missense	possibly damaging	0.92
R6326:Krt1	UTSW	15	101850249	missense	probably damaging	1.00
R6517:Krt1	UTSW	15	101850267	missense	possibly damaging	0.92
R6525:Krt1	UTSW	15	101850378	small deletion	probably benign
R6918:Krt1	UTSW	15	101850177	missense	probably damaging	1.00
R7018:Krt1	UTSW	15	101850378	small deletion	probably benign
R7040:Krt1	UTSW	15	101850378	small deletion	probably benign
R7110:Krt1	UTSW	15	101850378	small deletion	probably benign
R7296:Krt1	UTSW	15	101850629	missense	unknown
R7368:Krt1	UTSW	15	101846872	missense	probably damaging	1.00
R7549:Krt1	UTSW	15	101850378	small deletion	probably benign
R7706:Krt1	UTSW	15	101850378	small deletion	probably benign
R8416:Krt1	UTSW	15	101850378	small deletion	probably benign
R8418:Krt1	UTSW	15	101850378	small deletion	probably benign
RF003:Krt1	UTSW	15	101850378	small deletion	probably benign
X0067:Krt1	UTSW	15	101847755	critical splice donor site	probably null
Z1177:Krt1	UTSW	15	101846016	missense	unknown
Z1177:Krt1	UTSW	15	101850535	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTGCCAGAGGACTTAACGC -3'
(R):5'- AGGATGTCTGGAGAGTGCACTC -3'

Sequencing Primer
(F):5'- GAGGACTTAACGCCACCG -3'
(R):5'- AGAGTGCACTCCCAACGTGAG -3'

Posted On

2015-10-08