Mutagenetix > Incidental Mutation

Incidental Mutation 'R8458:Krt34'

655136

Institutional Source

Beutler Lab

Gene Symbol

Krt34

Ensembl Gene

ENSMUSG00000043485

Gene Name

keratin 34

Synonyms

Krt1-4, 4733401E01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8458 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100037347-100041554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100040075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000056622 (fasta)

Gene Model

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

AlphaFold

Q9D646

Predicted Effect

probably damaging
Transcript: ENSMUST00000056362
AA Change: D167G

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

SMART Domains

Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: D167G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,353,640	H422L	probably benign	Het
Adgra3	G	T	5: 49,987,671	P527T	probably damaging	Het
Afg1l	A	G	10: 42,426,521	V161A	probably damaging	Het
Als2cl	A	C	9: 110,884,957	E65A	probably damaging	Het
Arl3	A	C	19: 46,558,270	S39A	probably benign	Het
Cacna1a	T	C	8: 84,549,458	V560A	probably damaging	Het
Ccr10	C	T	11: 101,174,156	G183R	probably damaging	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Chkb	A	T	15: 89,428,173	V213E	possibly damaging	Het
Chst5	A	G	8: 111,890,790	V66A	probably damaging	Het
Crx	C	A	7: 15,868,106	A216S	possibly damaging	Het
Ctnnd1	T	C	2: 84,613,943	D556G	probably damaging	Het
Cyp4a14	C	A	4: 115,495,932	G61V	probably damaging	Het
Cyp4f17	T	A	17: 32,520,576	F157L	probably damaging	Het
Dnah12	A	T	14: 26,826,892		probably null	Het
Dnah14	A	C	1: 181,806,012	H4P		Het
Dnah7a	T	C	1: 53,617,983	D878G	probably benign	Het
Epb41l1	C	T	2: 156,521,764	T731I	probably benign	Het
Epg5	G	C	18: 77,948,731	E214D	probably benign	Het
Fam171b	A	G	2: 83,860,520	T276A	probably benign	Het
Fat4	G	A	3: 38,981,553	R3118H	probably benign	Het
Fbrs	C	T	7: 127,483,157	R327W	probably damaging	Het
Fmo3	A	G	1: 162,966,940	V187A	possibly damaging	Het
Gins1	T	C	2: 150,930,887	V190A	probably benign	Het
Gm17067	T	C	7: 42,708,731	S116G	probably damaging	Het
Gm5478	A	G	15: 101,645,427	V250A	probably benign	Het
Gpr85	T	C	6: 13,836,849	T19A	probably benign	Het
Hepacam2	T	C	6: 3,483,358	N217S	probably damaging	Het
Igf1r	T	C	7: 68,195,629	Y889H	probably benign	Het
Itpr2	T	G	6: 146,233,966	R1822S	possibly damaging	Het
Kcnk7	C	T	19: 5,704,379		probably benign	Het
Klk1	T	C	7: 44,225,509	S11P	probably damaging	Het
Klra7	C	T	6: 130,224,146	G216R	probably damaging	Het
Larp1b	A	C	3: 40,976,560	E291D	probably benign	Het
Lats1	T	A	10: 7,710,924	L950*	probably null	Het
Lrrc2	A	C	9: 110,970,150	D255A	probably damaging	Het
Lrrc49	A	T	9: 60,598,173	M605K	probably benign	Het
Mocos	A	G	18: 24,666,257	K183E	probably benign	Het
Mpl	C	A	4: 118,444,016		probably null	Het
Mroh9	T	A	1: 163,055,681	T410S	probably damaging	Het
Notch3	T	C	17: 32,156,050	E430G	probably damaging	Het
Nsun6	T	C	2: 15,030,052	T252A	probably benign	Het
Ntrk1	C	A	3: 87,791,669		probably null	Het
Nts	G	T	10: 102,485,060	T56N	probably damaging	Het
Nup210l	A	G	3: 90,185,567	D1276G	probably null	Het
Olfr1255	G	T	2: 89,817,150	V269F	probably damaging	Het
Olfr1458	T	C	19: 13,102,476	Y276C	probably damaging	Het
Olfr642	C	A	7: 104,049,668	A229S	possibly damaging	Het
Osbpl8	A	G	10: 111,277,316	S535G	possibly damaging	Het
Pax9	A	G	12: 56,696,765	I66V	possibly damaging	Het
Pja2	A	G	17: 64,292,848	V547A	probably damaging	Het
Plekhs1	T	C	19: 56,477,158	L185S	probably benign	Het
Prkdc	T	A	16: 15,790,676		probably null	Het
Ptgdr2	A	T	19: 10,940,421	T101S	possibly damaging	Het
Ptprd	T	C	4: 76,066,259	D550G	probably benign	Het
Ptx3	G	T	3: 66,220,998	R160L	probably benign	Het
Rdh16f1	A	C	10: 127,788,845	E184A	probably damaging	Het
Rfx3	C	T	19: 27,793,672	E560K	possibly damaging	Het
Scgb2b24	T	C	7: 33,737,354	Q111R	probably benign	Het
Spg20	A	G	3: 55,124,894	D383G	probably damaging	Het
Stpg3	C	A	2: 25,213,321	R252L	probably damaging	Het
Tcp11l2	C	T	10: 84,613,532	Q454*	probably null	Het
Trav10d	A	G	14: 52,811,323	Y57C	probably damaging	Het
Vmn1r170	T	A	7: 23,606,896	M241K	possibly damaging	Het
Vwa8	T	A	14: 79,064,892	N1000K	probably damaging	Het
Wdsub1	T	C	2: 59,861,701	E329G	probably benign	Het
Wnk4	C	A	11: 101,275,321	C891*	probably null	Het
Zdhhc16	G	T	19: 41,939,654	C204F	probably damaging	Het
Zfp868	T	C	8: 69,611,908	I259V	possibly damaging	Het
Zranb3	G	T	1: 127,992,910	Q426K	probably 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
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
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'- GGTACCTCCTGATTTGGGAAGC -3'
(R):5'- TATGGGAGTCTGCGGGCATAAG -3'

Sequencing Primer
(F):5'- AGCCTCTCTGGATGCTAAAGG -3'
(R):5'- TCTGCGGGCATAAGGGAGTC -3'

Posted On

2020-10-20