Mutagenetix > Incidental Mutation

Incidental Mutation 'R7728:Krt34'

595650

Institutional Source

Beutler Lab

Gene Symbol

Krt34

Ensembl Gene

ENSMUSG00000043485

Gene Name

keratin 34

Synonyms

Krt1-4, 4733401E01Rik

MMRRC Submission

045784-MU

Accession Numbers

Essential gene?

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

Stock #

R7728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100037347-100041554 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 100039985 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 null
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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,256,539	P851S	probably damaging	Het
2210408I21Rik	T	A	13: 77,316,477	L931Q	possibly damaging	Het
Abcg3	T	G	5: 104,936,078	I609L	probably benign	Het
Acly	A	T	11: 100,516,797	F242L	probably damaging	Het
Acly	C	T	11: 100,519,687	G155D	probably benign	Het
Acsl5	T	A	19: 55,287,853	L370*	probably null	Het
Arhgef17	G	A	7: 100,930,068	P558S	probably benign	Het
Bhlha9	T	A	11: 76,673,089	S181T	possibly damaging	Het
Birc6	A	G	17: 74,622,105	T2331A	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C530008M17Rik	T	C	5: 76,857,469	V559A	unknown	Het
Ccdc7b	A	T	8: 129,072,690	R83W	unknown	Het
Churc1	T	A	12: 76,773,278	N20K	probably benign	Het
Clec9a	T	C	6: 129,415,235	S63P	possibly damaging	Het
Cndp2	T	A	18: 84,672,077	M247L	probably benign	Het
Cpvl	C	T	6: 53,925,290	S329N	probably benign	Het
Csmd1	A	T	8: 16,231,271	W747R	probably damaging	Het
Dhx40	A	T	11: 86,771,933	D644E	probably damaging	Het
Disp2	A	T	2: 118,791,480	N898Y	probably benign	Het
Dnah3	G	A	7: 119,938,828	H666Y	probably damaging	Het
Dnajc2	C	T	5: 21,770,540	D222N	possibly damaging	Het
Epha5	A	T	5: 84,067,408	M826K	possibly damaging	Het
Fam13a	T	C	6: 58,954,299	D432G	possibly damaging	Het
Fkbp6	A	G	5: 135,339,544	L276P	probably damaging	Het
Gars	G	T	6: 55,050,386	W155L	probably damaging	Het
Gm12258	C	A	11: 58,859,692	H564Q	unknown	Het
Gm3127	A	G	14: 4,166,059	D79G	possibly damaging	Het
Gm6614	C	A	6: 141,987,710	E470*	probably null	Het
H2-Q10	T	A	17: 35,470,838	I119N	probably damaging	Het
Harbi1	A	G	2: 91,712,281	D29G	possibly damaging	Het
Hp1bp3	T	A	4: 138,225,996	M155K	probably damaging	Het
Itpr3	T	G	17: 27,098,114	M781R	probably damaging	Het
Kat7	T	C	11: 95,300,081	K101E	probably benign	Het
Kif7	A	G	7: 79,710,730	I299T	possibly damaging	Het
Krt81	A	G	15: 101,460,206	Y389H	probably damaging	Het
Lrrc36	A	T	8: 105,449,498	E168V	probably benign	Het
Lrrk1	A	G	7: 66,262,715	V1699A	probably benign	Het
Mdh1b	T	A	1: 63,715,270	S380C	probably benign	Het
Mlkl	A	G	8: 111,333,619	L45P	probably damaging	Het
Mmp13	T	A	9: 7,274,004	D159E	probably benign	Het
Nanp	A	G	2: 151,030,915	V31A	possibly damaging	Het
Nbeal1	T	C	1: 60,244,824	S846P	probably damaging	Het
Neb	G	A	2: 52,183,299	R5982C	probably damaging	Het
Nebl	G	T	2: 17,370,514	F93L		Het
Olfr745	G	A	14: 50,642,392	G31E	probably benign	Het
Pcdhb11	A	T	18: 37,423,477	N620I	probably damaging	Het
Pcdhgb2	A	G	18: 37,691,207	Y417C	probably damaging	Het
Pwp2	T	C	10: 78,178,561	T402A	probably benign	Het
Ralgapb	T	C	2: 158,482,503		probably null	Het
Rexo4	G	A	2: 26,964,230	A30V	probably benign	Het
Rrs1	T	A	1: 9,546,398	M292K	possibly damaging	Het
Shroom3	C	A	5: 92,683,707	P14Q	possibly damaging	Het
Slc16a10	T	A	10: 40,040,758	I383F	probably damaging	Het
Slk	C	A	19: 47,620,816	P736Q	probably damaging	Het
St6galnac2	T	A	11: 116,679,985	H259L	probably benign	Het
Stambpl1	T	G	19: 34,236,321	S317A	possibly damaging	Het
Syvn1	A	G	19: 6,051,205	T429A	unknown	Het
Tbc1d9	A	T	8: 83,259,350	E828V	probably damaging	Het
Tmtc2	A	C	10: 105,271,497		probably null	Het
Trmt11	A	G	10: 30,587,501	I206T	possibly damaging	Het
Trp53bp1	A	C	2: 121,207,899	L1436R	probably damaging	Het
Ttll5	C	T	12: 85,956,632	R1095W	probably benign	Het
Utp20	A	G	10: 88,798,341	F831S	probably damaging	Het
Vmn2r109	T	A	17: 20,552,855	Q501H	probably damaging	Het
Zcchc17	A	G	4: 130,337,019		probably null	Het
Zfhx3	A	G	8: 108,951,569	M3084V	probably benign	Het
Zfp81	T	C	17: 33,336,817	N12S	possibly damaging	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
IGL02831:Krt34	APN	11	100040147	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCACAGCATCCACAGTTC -3'
(R):5'- AGAAGACATTGGCTGATCGTC -3'

Sequencing Primer
(F):5'- AGTTCACCACACTCCTCTGTAAG -3'
(R):5'- ACATTGGCTGATCGTCCCACC -3'

Posted On

2019-11-12