Mutagenetix > Incidental Mutation

Incidental Mutation 'R9262:Krt34'

702334

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: 0.072) question?

Stock #

R9262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100037347-100041554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100040025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 184 (R184G)

Ref Sequence

ENSEMBL: ENSMUSP00000056622 (fasta)

Gene Model

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

AlphaFold

Q9D646

Predicted Effect

probably benign
Transcript: ENSMUST00000056362
AA Change: R184G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: R184G

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: 99.6%
20x: 98.6%

Validation Efficiency

97% (73/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,588	M473V	probably benign	Het
4933409G03Rik	A	T	2: 68,613,031	H192L	unknown	Het
Abca4	T	A	3: 122,170,990	C2149S	probably damaging	Het
Abl2	G	A	1: 156,642,250	G1028D	possibly damaging	Het
Adgre1	A	G	17: 57,447,941	T680A	probably damaging	Het
Amn	G	A	12: 111,271,151	W10*	probably null	Het
Ankhd1	G	T	18: 36,632,746	V140F		Het
Asnsd1	A	T	1: 53,344,775	N613K	probably benign	Het
Bbs2	A	T	8: 94,080,915	I417N	probably damaging	Het
Cad	T	A	5: 31,067,665	W971R	probably null	Het
Cand2	A	T	6: 115,782,769	I134F	probably benign	Het
Ccdc154	C	A	17: 25,170,186	H453N	probably damaging	Het
Ccdc7a	T	A	8: 128,759,796	H1601L	possibly damaging	Het
Ccdc9	A	C	7: 16,278,475	S261A	probably benign	Het
Cdkl3	T	A	11: 52,025,875	S277T	probably benign	Het
Cipc	T	A	12: 86,952,723	Y8*	probably null	Het
Cramp1l	A	G	17: 25,013,946	S27P	probably damaging	Het
Csf1r	A	T	18: 61,110,334	M141L	probably benign	Het
Csf2rb2	G	T	15: 78,284,335	F873L	probably damaging	Het
Dchs1	G	A	7: 105,755,626	R2570W	probably damaging	Het
Dmxl1	A	T	18: 49,843,852	N94Y	probably benign	Het
Dnajc10	A	G	2: 80,346,621	K640R	probably benign	Het
Epha8	A	C	4: 136,931,684	H886Q	probably benign	Het
Fcgbp	G	C	7: 28,120,527	D2560H	probably damaging	Het
Fry	T	G	5: 150,381,644	F605V	probably damaging	Het
Fsip2	A	G	2: 82,977,318	N1327S	probably benign	Het
Gm12117	T	C	11: 33,276,001	T112A	probably benign	Het
Gm3604	A	T	13: 62,369,883	N220K	probably damaging	Het
Gm572	T	C	4: 148,651,195	V27A	probably benign	Het
Gm6614	G	T	6: 141,980,868	F597L	probably damaging	Het
Gm8251	A	G	1: 44,057,109	S1610P	possibly damaging	Het
Gm853	A	G	4: 130,220,360	V88A	possibly damaging	Het
Gpr39	A	G	1: 125,872,787	K425R	probably benign	Het
Heatr3	A	G	8: 88,156,469	D349G	probably benign	Het
Hip1	A	G	5: 135,449,687	S248P	probably damaging	Het
Itga11	A	G	9: 62,752,396		probably benign	Het
Itga3	C	T	11: 95,065,799	V210I	probably benign	Het
Jmjd1c	T	C	10: 67,248,014	I2173T	probably benign	Het
Klf13	G	A	7: 63,924,708	Q21*	probably null	Het
Kmt2a	A	T	9: 44,819,925	S3032T	probably benign	Het
Krtap16-1	T	C	11: 99,986,168	T137A	probably benign	Het
Mgam	T	C	6: 40,746,488		probably null	Het
Mog	T	C	17: 37,014,756	T196A	possibly damaging	Het
Ms4a6d	T	C	19: 11,601,852	Y87C	possibly damaging	Het
Ndrg4	C	T	8: 95,709,184		probably benign	Het
Nsd1	T	A	13: 55,247,058	M927K	possibly damaging	Het
Olfr1246	G	T	2: 89,591,091	T8K	probably damaging	Het
Olfr323	T	A	11: 58,625,456	M197L	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Pcdhac2	A	G	18: 37,146,042	R692G	possibly damaging	Het
Pcsk4	T	A	10: 80,325,030	S321C	probably damaging	Het
Pi4ka	A	G	16: 17,302,995	F1292L		Het
Pigv	G	T	4: 133,669,799	P6Q	possibly damaging	Het
Pkhd1	A	C	1: 20,548,127	S927A	probably benign	Het
Pnpla3	A	T	15: 84,171,162	I90F	probably benign	Het
Pole	C	A	5: 110,325,556	L1739I	probably damaging	Het
Pole	T	A	5: 110,325,557	L1739H	probably damaging	Het
Rbm12	A	T	2: 156,097,397	N318K	possibly damaging	Het
Rpl18a	A	T	8: 70,895,535	L168Q	probably benign	Het
Ryr2	T	C	13: 11,750,968	N1294S	probably damaging	Het
Sema5b	T	C	16: 35,632,853	L98P	possibly damaging	Het
Smg7	A	G	1: 152,845,511	V650A	probably damaging	Het
Strada	C	T	11: 106,184,618	R13Q	probably damaging	Het
Sun1	T	C	5: 139,215,163	S37P	unknown	Het
Syce1l	T	C	8: 113,654,106		probably null	Het
Tdg	T	A	10: 82,644,673	F263L	probably damaging	Het
Tead3	G	T	17: 28,341,521	S36R	probably benign	Het
Timm44	A	G	8: 4,260,621	L377P	probably damaging	Het
Tk1	C	T	11: 117,825,755	V9M	probably benign	Het
Trim36	A	G	18: 46,167,439	Y722H	probably benign	Het
Ttn	A	T	2: 76,809,888	M13792K	possibly damaging	Het
Unc80	A	G	1: 66,555,252		probably benign	Het
Usp46	G	T	5: 74,029,304	A133E	probably benign	Het
Wnk2	T	A	13: 49,067,954	R1240S	probably benign	Het
Zfp821	G	A	8: 109,724,350	R325Q	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
R8458:Krt34	UTSW	11	100040075	missense	probably damaging	1.00
R8480:Krt34	UTSW	11	100040145	critical splice acceptor site	probably null
R9514:Krt34	UTSW	11	100038400	missense	probably damaging	1.00
Z1176:Krt34	UTSW	11	100041434	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GATACAGTGGTAAGGTCCTCCTG -3'
(R):5'- TGGATACGCTCATGGAGTTC -3'

Sequencing Primer
(F):5'- CTCCTGGGTCCTTAGCTTAGAG -3'
(R):5'- ATGGAGTTCTTGGTCCAATACC -3'

Posted On

2022-03-25