Mutagenetix > Incidental Mutation

Incidental Mutation 'R1714:Krt34'

190879

Institutional Source

Beutler Lab

Gene Symbol

Krt34

Ensembl Gene

ENSMUSG00000043485

Gene Name

keratin 34

Synonyms

Krt1-4, 4733401E01Rik

MMRRC Submission

039747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100037347-100041554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100040127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 150 (S150P)

Ref Sequence

ENSEMBL: ENSMUSP00000056622 (fasta)

Gene Model

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

AlphaFold

Q9D646

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056362
AA Change: S150P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: S150P

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,316,360	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,306,581	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,439,770	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,885,194	Y464*	probably null	Het
Apba1	G	A	19: 23,944,952	E795K	possibly damaging	Het
Aqp12	T	A	1: 93,006,959	V186D	possibly damaging	Het
Brd8	A	T	18: 34,609,833	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,740,286	S2R	possibly damaging	Het
Chd9	A	C	8: 91,034,225		probably benign	Het
Clk4	C	T	11: 51,280,418	H219Y	probably damaging	Het
Cngb1	A	G	8: 95,257,931	Y417H	probably damaging	Het
Cr2	A	T	1: 195,151,686	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,219,863	R415S	probably damaging	Het
Dclk2	G	A	3: 86,906,093	A182V	probably benign	Het
Ddx11	T	G	17: 66,148,759	W718G	probably damaging	Het
Dmd	A	C	X: 83,964,750	T2069P	probably benign	Het
Dnaic1	T	C	4: 41,632,164	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,579,101	R163*	probably null	Het
Dynll2	T	A	11: 87,984,012		probably null	Het
Ercc5	A	G	1: 44,167,339	T471A	probably benign	Het
Fan1	T	C	7: 64,366,687	D563G	probably benign	Het
Fbxo34	A	G	14: 47,529,201	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,446,406	S353T	probably damaging	Het
Gabrb3	A	T	7: 57,765,428	Y82F	probably damaging	Het
Gm20939	C	A	17: 94,875,806	P157T	probably damaging	Het
Haus3	A	T	5: 34,163,697	H468Q	probably benign	Het
Hist1h2ba	T	C	13: 23,933,952	T69A	probably benign	Het
Il20ra	T	C	10: 19,755,828	V259A	probably damaging	Het
Isg15	A	T	4: 156,199,957	V38E	probably damaging	Het
Kcnq3	A	G	15: 66,000,063	S586P	probably benign	Het
Kl	A	T	5: 150,953,333	Y206F	probably benign	Het
Klk1b24	C	A	7: 44,191,515	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,862,950	S840A	unknown	Het
Lamc3	A	G	2: 31,940,757	K1502R	probably benign	Het
Letm1	G	T	5: 33,760,884	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,607,737	G397S	probably null	Het
Lrrc8c	A	G	5: 105,607,291	T311A	possibly damaging	Het
Mpeg1	A	T	19: 12,462,834	D552V	probably damaging	Het
Myh11	C	T	16: 14,236,368		probably null	Het
Ndufa9	T	C	6: 126,822,191		probably null	Het
Olfr1289	A	T	2: 111,483,663	I78F	probably damaging	Het
Olfr1507	A	C	14: 52,490,414		probably null	Het
Olfr281	G	A	15: 98,456,733	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,441,315	M117R	possibly damaging	Het
Ppp5c	T	C	7: 17,008,703	I237V	probably benign	Het
Prrc2c	G	A	1: 162,677,376	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,725,542	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,642,389	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,651,665		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfpl4	T	G	7: 5,110,358	T269P	probably benign	Het
Rgs10	A	G	7: 128,403,222	V72A	probably damaging	Het
Rsph1	T	C	17: 31,255,216	N289S	probably benign	Het
Sbk2	T	C	7: 4,963,122	D21G	probably benign	Het
Shbg	A	T	11: 69,617,157	D127E	possibly damaging	Het
Spag16	A	G	1: 69,843,005	E52G	probably damaging	Het
Ssh2	G	A	11: 77,454,024	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,540,273	D91E	probably damaging	Het
Syne2	C	A	12: 76,054,939	A669E	probably benign	Het
Traf3	A	G	12: 111,242,473	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886	T295A	probably damaging	Het
Usp46	A	G	5: 74,003,167	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,395,470	S139P	possibly damaging	Het
Ydjc	G	A	16: 17,147,799	V143M	probably damaging	Het
Zfp169	T	C	13: 48,498,854	E29G	probably benign	Het
Zfp292	A	G	4: 34,808,935	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,019,617	D185N	probably damaging	Het
Zfp827	A	T	8: 79,060,573	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,613,985	I89N	probably damaging	Het
Zfr2	T	C	10: 81,244,749	L419P	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
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

Predicted Primers

PCR Primer
(F):5'- CTGATTTGGGAAGCCTCTCTGGATG -3'
(R):5'- CAAGAACAGACTGAGGGTTCCACC -3'

Sequencing Primer
(F):5'- TCACTCTGAGGCTGTGAAAC -3'
(R):5'- CAGACTGAGGGTTCCACCTTATG -3'

Posted On

2014-05-14