Mutagenetix > Incidental Mutation

Incidental Mutation 'R7903:Krt34'

610102

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: 0.076) question?

Stock #

R7903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100037347-100041554 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 100041495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000056622 (fasta)

Gene Model

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

AlphaFold

Q9D646

Predicted Effect

probably null
Transcript: ENSMUST00000056362
AA Change: M1K

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: M1K

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

100% (67/67)

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
2700062C07Rik	T	C	18: 24,475,726		probably null	Het
Acsm2	A	T	7: 119,595,992	T596S	probably benign	Het
Aggf1	T	C	13: 95,356,458	K548E	probably damaging	Het
Anapc15	T	G	7: 101,897,986	V23G	probably benign	Het
Atp10a	T	C	7: 58,658,822	L123P	probably damaging	Het
Brf2	G	A	8: 27,126,093	T88M	possibly damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Ccdc14	A	T	16: 34,704,910	H191L	probably damaging	Het
Cdc42bpg	T	A	19: 6,313,469	V453E	possibly damaging	Het
Corin	T	C	5: 72,301,500	K1110E	probably benign	Het
Cubn	T	C	2: 13,468,869	D421G	probably damaging	Het
D130043K22Rik	T	G	13: 24,876,012	V622G	probably damaging	Het
Ddb1	T	C	19: 10,608,348	V142A	probably benign	Het
Dnah3	A	G	7: 120,042,128	S1190P	probably damaging	Het
Elavl1	T	C	8: 4,301,756	K120R	probably benign	Het
Epb41l3	T	A	17: 69,274,337		probably null	Het
Fubp1	G	A	3: 152,214,861	W79*	probably null	Het
Gm1673	T	A	5: 33,983,566		probably null	Het
Gm4869	T	C	5: 140,476,012	V523A	probably damaging	Het
Gm5580	A	G	6: 116,551,251	T30A	probably benign	Het
Gsto2	T	A	19: 47,884,657	I157N	possibly damaging	Het
Gucy2d	A	G	7: 98,459,065	D735G	probably damaging	Het
H2-D1	A	T	17: 35,263,991	I166F	probably damaging	Het
Hars2	C	A	18: 36,786,192	R128S	probably damaging	Het
Igf1r	T	C	7: 68,184,752	F496S	probably damaging	Het
Inf2	T	C	12: 112,612,554	V1256A	unknown	Het
Lamtor2	T	C	3: 88,552,510	N26D	possibly damaging	Het
Map3k10	T	C	7: 27,657,957	T799A	probably damaging	Het
Map3k8	T	C	18: 4,349,162	D52G	probably benign	Het
Mcm10	T	C	2: 4,995,802	T693A	probably benign	Het
Mgarp	G	T	3: 51,396,698	A10E		Het
Mns1	A	T	9: 72,452,811	E414D	probably benign	Het
Myo16	A	G	8: 10,376,265	S341G	probably null	Het
Nags	A	T	11: 102,146,677	D198V	possibly damaging	Het
Nedd4l	C	T	18: 65,186,367	P464S	probably damaging	Het
Nsfl1c	T	C	2: 151,496,602	Y42H	probably damaging	Het
Obscn	T	C	11: 59,079,116	M67V	probably benign	Het
Olfr1367	T	A	13: 21,347,876	I316K	probably benign	Het
Pcsk5	A	T	19: 17,572,483	L715Q	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,709,168		probably benign	Het
Pfkfb4	A	T	9: 108,998,951	N64Y	probably damaging	Het
Pidd1	A	G	7: 141,439,831	F673L	probably damaging	Het
Pla2g7	A	G	17: 43,600,621		probably null	Het
Pml	T	C	9: 58,249,584	E36G	probably benign	Het
Proser1	C	A	3: 53,479,082	S795*	probably null	Het
Ptprs	T	A	17: 56,424,960	K1016*	probably null	Het
Rbfox1	T	A	16: 7,224,511	S76R	probably benign	Het
Reck	A	T	4: 43,927,166	I486F	possibly damaging	Het
Rnf103	A	T	6: 71,509,154	K256N	probably damaging	Het
Setd2	A	T	9: 110,617,837	N713I		Het
Slc38a4	C	T	15: 97,008,928	G310S	probably benign	Het
Slc7a4	C	T	16: 17,575,281	R218H	probably benign	Het
Slc7a7	T	C	14: 54,373,909	H344R	probably damaging	Het
Smarcc1	G	A	9: 110,204,266	E810K	probably benign	Het
Sord	T	A	2: 122,263,225	M275K	probably benign	Het
Spire2	C	A	8: 123,368,750	P631T	probably benign	Het
Sult6b1	T	C	17: 78,890,850	K207R	probably benign	Het
Syde2	T	A	3: 145,998,788	D498E	probably damaging	Het
Syne2	C	T	12: 76,064,184	T1024M	probably damaging	Het
Tdrd9	T	A	12: 112,051,976	D1276E	possibly damaging	Het
Tm7sf2	A	G	19: 6,071,335	F219S	probably damaging	Het
Tmcc2	C	T	1: 132,360,461	G496D	probably benign	Het
Tmtc4	G	A	14: 122,927,648	H600Y	probably benign	Het
Vmn1r224	A	T	17: 20,420,047	L295F	probably benign	Het
Vmn1r91	T	C	7: 20,101,210	I18T	possibly damaging	Het
Vwa7	G	A	17: 35,017,787	R110H	probably damaging	Het
Wbp2nl	C	T	15: 82,306,131	Q87*	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
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
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'- TCTCATTGCCATTGAAGGAGC -3'
(R):5'- GCTGTGACACAAGCCAAATG -3'

Sequencing Primer
(F):5'- TGCCATTGAAGGAGCCCTCAC -3'
(R):5'- CTCTTTGAAAGCAATCTAAGGAGCG -3'

Posted On

2019-12-20