Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02831:Krt34'

361458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt34

Ensembl Gene

ENSMUSG00000043485

Gene Name

keratin 34

Synonyms

Krt1-4, 4733401E01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02831

Quality Score

Status

Chromosome

Chromosomal Location

100037347-100041554 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 100040147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056362]

AlphaFold

Q9D646

Predicted Effect

probably benign
Transcript: ENSMUST00000056362

SMART Domains

Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Filament	55	366	7.76e-151	SMART
low complexity region	378	392	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 110,053,081	V1121M	probably damaging	Het
Acrbp	C	A	6: 125,061,249	T471N	possibly damaging	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Casp7	A	G	19: 56,404,423	D3G	probably benign	Het
Cd163l1	G	T	7: 140,228,521	V782L	probably benign	Het
Coro1c	A	T	5: 113,844,408	C456S	probably benign	Het
Dlec1	T	G	9: 119,143,915	L1499R	probably damaging	Het
Dnah8	T	C	17: 30,712,276	S1422P	probably benign	Het
Exd1	T	C	2: 119,528,754	D216G	probably damaging	Het
Fhit	T	C	14: 9,870,080	T130A	probably benign	Het
Frem1	A	T	4: 82,956,158	M1409K	probably benign	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Glb1l2	A	G	9: 26,767,450	V465A	probably benign	Het
Ints8	T	C	4: 11,245,896	Q194R	possibly damaging	Het
Ip6k2	C	T	9: 108,804,534		probably benign	Het
Kctd2	T	A	11: 115,430,340	*264K	probably null	Het
Lamc1	A	G	1: 153,247,055	S760P	probably benign	Het
Lrp1b	T	C	2: 41,193,591	N1702S	probably damaging	Het
Lrrc8e	T	A	8: 4,235,429	S551R	probably damaging	Het
Map3k20	T	C	2: 72,371,727	V139A	probably damaging	Het
Mkl1	A	G	15: 81,104,793	L9P	probably benign	Het
Napsa	A	G	7: 44,586,760	T408A	probably benign	Het
Olfr1156	T	C	2: 87,949,676		probably null	Het
Olfr132	T	C	17: 38,130,512	K227E	probably benign	Het
Olfr1361	T	C	13: 21,658,904	I140V	probably benign	Het
Panx1	A	G	9: 15,007,648	L305P	probably damaging	Het
Pkhd1l1	A	G	15: 44,501,493	H676R	probably benign	Het
Pld1	T	A	3: 28,076,425	V458E	probably damaging	Het
Ppp5c	A	G	7: 17,008,645	L256P	probably damaging	Het
Pyroxd2	G	T	19: 42,735,903	T307K	probably damaging	Het
Sin3b	A	G	8: 72,744,562	E379G	probably damaging	Het
Slc22a23	T	C	13: 34,299,069	T276A	possibly damaging	Het
Slc26a3	T	C	12: 31,452,629	I283T	probably damaging	Het
Sltm	A	G	9: 70,584,865	D712G	probably damaging	Het
Slu7	C	T	11: 43,442,653	Q367*	probably null	Het
Srbd1	T	C	17: 86,003,871	N706S	probably damaging	Het
Supt16	A	T	14: 52,170,878	M870K	possibly damaging	Het
Tnxb	T	C	17: 34,703,571	Y2453H	possibly damaging	Het
Tomm40	A	G	7: 19,703,089	Y274H	probably damaging	Het
Utp20	A	T	10: 88,815,908	D404E	probably benign	Het
Vmn2r23	T	A	6: 123,704,385	M84K	probably benign	Het
Wdr70	A	G	15: 7,884,306	Y621H	possibly damaging	Het
Wfdc8	C	T	2: 164,605,765		probably null	Het

Other mutations in Krt34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Krt34	APN	11	100038694	splice site	probably benign
IGL01323:Krt34	APN	11	100038780	missense	possibly damaging	0.95
IGL01403:Krt34	APN	11	100038290	missense	possibly damaging	0.88
IGL01453:Krt34	APN	11	100040090	missense	probably damaging	1.00
IGL02031:Krt34	APN	11	100039023	missense	possibly damaging	0.95
R0024:Krt34	UTSW	11	100041037	missense	probably benign	0.01
R0024:Krt34	UTSW	11	100041037	missense	probably benign	0.01
R0220:Krt34	UTSW	11	100038693	splice site	probably benign
R0242:Krt34	UTSW	11	100041331	missense	probably damaging	1.00
R1573:Krt34	UTSW	11	100041028	missense	probably benign	0.01
R1714:Krt34	UTSW	11	100040127	missense	possibly damaging	0.95
R1879:Krt34	UTSW	11	100038292	missense	possibly damaging	0.76
R3084:Krt34	UTSW	11	100041021	missense	probably damaging	1.00
R3692:Krt34	UTSW	11	100039031	missense	probably damaging	1.00
R3819:Krt34	UTSW	11	100040018	missense	probably damaging	1.00
R3872:Krt34	UTSW	11	100041417	missense	probably benign
R3876:Krt34	UTSW	11	100040965	missense	probably benign	0.02
R6164:Krt34	UTSW	11	100038446	nonsense	probably null
R6338:Krt34	UTSW	11	100038490	missense	probably benign	0.00
R6457:Krt34	UTSW	11	100040090	missense	probably damaging	1.00
R7728:Krt34	UTSW	11	100039985	critical splice donor site	probably null
R7748:Krt34	UTSW	11	100038938	missense	probably damaging	1.00
R7903:Krt34	UTSW	11	100041495	start codon destroyed	probably null	0.42
R8458:Krt34	UTSW	11	100040075	missense	probably damaging	1.00
R8480:Krt34	UTSW	11	100040145	critical splice acceptor site	probably null
R9262:Krt34	UTSW	11	100040025	missense	probably benign	0.15
R9514:Krt34	UTSW	11	100038400	missense	probably damaging	1.00
Z1176:Krt34	UTSW	11	100041434	nonsense	probably null

Posted On

2015-12-18