Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Krt34'

15154

Institutional Source

Beutler Lab

Gene Symbol

Krt34

Ensembl Gene

ENSMUSG00000043485

Gene Name

keratin 34

Synonyms

Krt1-4, 4733401E01Rik

MMRRC Submission

038319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100037347-100041554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100041037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 119 (C119S)

Ref Sequence

ENSEMBL: ENSMUSP00000056622 (fasta)

Gene Model

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

AlphaFold

Q9D646

Predicted Effect

probably benign
Transcript: ENSMUST00000056362
AA Change: C119S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: C119S

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

0.1010

Coding Region Coverage

1x: 79.2%
3x: 69.7%
10x: 44.0%
20x: 23.5%

Validation Efficiency

95% (75/79)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 83,728,284 (GRCm38)	T260A	probably damaging	Het
Ahctf1	G	A	1: 179,752,436 (GRCm38)	T2067M	probably damaging	Het
Akip1	T	C	7: 109,704,138 (GRCm38)	S63P	probably benign	Het
Ankrd34c	G	A	9: 89,729,527 (GRCm38)	P254S	possibly damaging	Het
Aqp8	T	C	7: 123,467,440 (GRCm38)	I256T	probably benign	Het
Arnt2	A	G	7: 84,284,126 (GRCm38)	V308A	probably benign	Het
Astn1	G	A	1: 158,684,215 (GRCm38)	S1209N	probably damaging	Het
Atf7ip	T	C	6: 136,599,820 (GRCm38)		probably benign	Het
Bbx	T	A	16: 50,224,918 (GRCm38)	M427L	probably benign	Het
Cadm4	T	C	7: 24,502,744 (GRCm38)	L336P	probably benign	Het
Camk2d	A	G	3: 126,797,723 (GRCm38)	M281V	probably benign	Het
Dll3	A	G	7: 28,300,161 (GRCm38)		probably benign	Het
Dscam	G	A	16: 96,593,385 (GRCm38)	R1906*	probably null	Het
Dst	C	T	1: 34,189,119 (GRCm38)	P1606L	probably damaging	Het
Eif2ak3	A	G	6: 70,892,356 (GRCm38)	T676A	probably benign	Het
Entpd5	T	C	12: 84,373,733 (GRCm38)	M428T	probably benign	Het
Fry	T	G	5: 150,380,803 (GRCm38)	S553A	probably benign	Het
Gls2	G	A	10: 128,199,256 (GRCm38)	R86H	probably damaging	Het
Gm14340	T	A	2: 180,824,250 (GRCm38)		noncoding transcript	Het
Gm9457	A	C	8: 4,813,131 (GRCm38)		noncoding transcript	Het
Hfm1	T	C	5: 106,856,924 (GRCm38)	K1179E	probably benign	Het
Iqgap1	T	C	7: 80,751,939 (GRCm38)	T473A	probably benign	Het
Krt6a	A	G	15: 101,690,715 (GRCm38)		probably benign	Het
Lysmd4	A	G	7: 67,226,080 (GRCm38)	T164A	probably benign	Het
Mroh2b	T	A	15: 4,925,627 (GRCm38)	Y701N	probably damaging	Het
Pi4ka	T	C	16: 17,315,535 (GRCm38)		probably benign	Het
Plcb1	A	G	2: 135,362,425 (GRCm38)	S900G	probably benign	Het
Plxna2	T	A	1: 194,643,995 (GRCm38)	I79N	possibly damaging	Het
Prpf31	C	A	7: 3,636,659 (GRCm38)		probably null	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rsc1a1	T	C	4: 141,685,272 (GRCm38)	K110E	probably benign	Het
Sin3a	T	A	9: 57,118,253 (GRCm38)		probably benign	Het
Slc24a2	T	C	4: 87,028,240 (GRCm38)		probably benign	Het
Slc6a3	A	T	13: 73,540,837 (GRCm38)		probably benign	Het
St5	T	C	7: 109,524,659 (GRCm38)	H1131R	probably damaging	Het
Sugct	G	A	13: 16,857,869 (GRCm38)	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,141,788 (GRCm38)	I310M	probably damaging	Het
Tpm3	C	A	3: 90,087,449 (GRCm38)		probably null	Het
Ttc27	T	C	17: 74,770,264 (GRCm38)	F385L	possibly damaging	Het
Utrn	A	G	10: 12,406,011 (GRCm38)	V3301A	probably benign	Het

Other mutations in Krt34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Krt34	APN	11	100,038,694 (GRCm38)	splice site	probably benign
IGL01323:Krt34	APN	11	100,038,780 (GRCm38)	missense	possibly damaging	0.95
IGL01403:Krt34	APN	11	100,038,290 (GRCm38)	missense	possibly damaging	0.88
IGL01453:Krt34	APN	11	100,040,090 (GRCm38)	missense	probably damaging	1.00
IGL02031:Krt34	APN	11	100,039,023 (GRCm38)	missense	possibly damaging	0.95
IGL02831:Krt34	APN	11	100,040,147 (GRCm38)	splice site	probably benign
R0024:Krt34	UTSW	11	100,041,037 (GRCm38)	missense	probably benign	0.01
R0220:Krt34	UTSW	11	100,038,693 (GRCm38)	splice site	probably benign
R0242:Krt34	UTSW	11	100,041,331 (GRCm38)	missense	probably damaging	1.00
R1573:Krt34	UTSW	11	100,041,028 (GRCm38)	missense	probably benign	0.01
R1714:Krt34	UTSW	11	100,040,127 (GRCm38)	missense	possibly damaging	0.95
R1879:Krt34	UTSW	11	100,038,292 (GRCm38)	missense	possibly damaging	0.76
R3084:Krt34	UTSW	11	100,041,021 (GRCm38)	missense	probably damaging	1.00
R3692:Krt34	UTSW	11	100,039,031 (GRCm38)	missense	probably damaging	1.00
R3819:Krt34	UTSW	11	100,040,018 (GRCm38)	missense	probably damaging	1.00
R3872:Krt34	UTSW	11	100,041,417 (GRCm38)	missense	probably benign
R3876:Krt34	UTSW	11	100,040,965 (GRCm38)	missense	probably benign	0.02
R6164:Krt34	UTSW	11	100,038,446 (GRCm38)	nonsense	probably null
R6338:Krt34	UTSW	11	100,038,490 (GRCm38)	missense	probably benign	0.00
R6457:Krt34	UTSW	11	100,040,090 (GRCm38)	missense	probably damaging	1.00
R7728:Krt34	UTSW	11	100,039,985 (GRCm38)	critical splice donor site	probably null
R7748:Krt34	UTSW	11	100,038,938 (GRCm38)	missense	probably damaging	1.00
R7903:Krt34	UTSW	11	100,041,495 (GRCm38)	start codon destroyed	probably null	0.42
R8458:Krt34	UTSW	11	100,040,075 (GRCm38)	missense	probably damaging	1.00
R8480:Krt34	UTSW	11	100,040,145 (GRCm38)	critical splice acceptor site	probably null
R9262:Krt34	UTSW	11	100,040,025 (GRCm38)	missense	probably benign	0.15
R9514:Krt34	UTSW	11	100,038,400 (GRCm38)	missense	probably damaging	1.00
Z1176:Krt34	UTSW	11	100,041,434 (GRCm38)	nonsense	probably null

Posted On

2012-12-12