Mutagenetix > Incidental Mutation

Incidental Mutation 'R5140:Krt35'

396411

Institutional Source

Beutler Lab

Gene Symbol

Krt35

Ensembl Gene

ENSMUSG00000048013

Gene Name

keratin 35

Synonyms

Ha5, Krt1-24

MMRRC Submission

042726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99983018-99987050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99985343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 233 (K233E)

Ref Sequence

ENSEMBL: ENSMUSP00000099416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103127]

AlphaFold

Q497I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000103127
AA Change: K233E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013
AA Change: K233E

Domain	Start	End	E-Value	Type
low complexity region	33	43	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
Filament	96	407	3.32e-159	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173988

Meta Mutation Damage Score

0.1287

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,752,154 (GRCm39)	I405N	probably damaging	Het
Abhd17b	T	C	19: 21,661,545 (GRCm39)	L244P	probably damaging	Het
Aebp2	T	A	6: 140,579,532 (GRCm39)	C34*	probably null	Het
Arhgap33	A	G	7: 30,227,726 (GRCm39)	V491A	probably damaging	Het
Cacul1	C	T	19: 60,551,619 (GRCm39)	R201Q	probably benign	Het
Cald1	T	A	6: 34,730,515 (GRCm39)	N77K	probably damaging	Het
Clcn6	A	C	4: 148,122,774 (GRCm39)		probably benign	Het
Copb1	A	T	7: 113,846,035 (GRCm39)	H178Q	probably benign	Het
Dnah17	C	T	11: 117,977,771 (GRCm39)	V1854I	probably damaging	Het
Dnajc16	T	G	4: 141,491,994 (GRCm39)	T610P	possibly damaging	Het
Enpp1	T	C	10: 24,528,750 (GRCm39)	N624S	possibly damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Foxn1	T	C	11: 78,252,459 (GRCm39)	T310A	probably benign	Het
Galnt16	T	A	12: 80,628,073 (GRCm39)	D256E	possibly damaging	Het
Gbp11	T	C	5: 105,478,919 (GRCm39)	D173G	probably damaging	Het
Glmn	A	G	5: 107,718,066 (GRCm39)	S284P	probably damaging	Het
Gm3985	A	G	8: 33,380,693 (GRCm39)		noncoding transcript	Het
Hs3st6	A	T	17: 24,977,521 (GRCm39)	M334L	probably benign	Het
Idua	T	A	5: 108,828,180 (GRCm39)	D155E	probably damaging	Het
Kdm6b	T	C	11: 69,290,881 (GRCm39)		probably benign	Het
Kiss1r	T	C	10: 79,757,461 (GRCm39)	F272L	probably damaging	Het
Krt36	C	T	11: 99,994,328 (GRCm39)	V250M	probably damaging	Het
Lhpp	T	C	7: 132,307,361 (GRCm39)	Y253H	probably damaging	Het
Npas3	T	A	12: 53,547,897 (GRCm39)	L51*	probably null	Het
Or10ac1	T	C	6: 42,515,449 (GRCm39)	H169R	probably benign	Het
Or1j18	T	A	2: 36,624,510 (GRCm39)	M59K	possibly damaging	Het
Or4a74	T	C	2: 89,439,627 (GRCm39)	Y273C	probably damaging	Het
Or4c119	T	C	2: 88,987,451 (GRCm39)	K23E	probably benign	Het
Or56b2	T	C	7: 104,338,107 (GRCm39)	M295T	probably benign	Het
Pcdhb9	T	G	18: 37,534,186 (GRCm39)	V60G	probably benign	Het
Prkce	T	C	17: 86,789,570 (GRCm39)	V239A	probably benign	Het
Ralgapa1	C	T	12: 55,822,937 (GRCm39)	C293Y	probably damaging	Het
Ralgapa1	C	T	12: 55,712,459 (GRCm39)	R1804Q	probably damaging	Het
Rnf26	C	A	9: 44,024,071 (GRCm39)		probably null	Het
Safb2	T	C	17: 56,884,901 (GRCm39)	D178G	probably benign	Het
Scn9a	C	T	2: 66,395,511 (GRCm39)	V178M	possibly damaging	Het
Sergef	A	G	7: 46,285,026 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,190,544 (GRCm39)	G7R	probably benign	Het
Setd2	C	A	9: 110,380,197 (GRCm39)	D1337E	probably benign	Het
Shprh	T	A	10: 11,030,449 (GRCm39)	M222K	probably benign	Het
Slc25a40	T	C	5: 8,480,486 (GRCm39)	Y79H	probably damaging	Het
Slc41a2	A	G	10: 83,133,155 (GRCm39)	M297T	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spcs1	A	G	14: 30,722,570 (GRCm39)	L83S	probably benign	Het
Sult1c2	T	C	17: 54,276,743 (GRCm39)	N106S	probably benign	Het
Szt2	C	T	4: 118,244,178 (GRCm39)	R1309Q	possibly damaging	Het
Ube3c	T	A	5: 29,840,709 (GRCm39)	F695I	probably damaging	Het
Uimc1	A	G	13: 55,223,330 (GRCm39)	L314P	probably damaging	Het
Usp17le	C	T	7: 104,418,645 (GRCm39)	E166K	probably damaging	Het
Vmn2r92	G	A	17: 18,372,312 (GRCm39)	D41N	probably benign	Het

Other mutations in Krt35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Krt35	APN	11	99,984,785 (GRCm39)	missense	probably damaging	1.00
IGL01528:Krt35	APN	11	99,985,420 (GRCm39)	missense	probably damaging	1.00
IGL02552:Krt35	APN	11	99,983,899 (GRCm39)	missense	probably benign	0.39
IGL02583:Krt35	APN	11	99,983,360 (GRCm39)	missense	possibly damaging	0.66
IGL03276:Krt35	APN	11	99,983,953 (GRCm39)	missense	probably benign	0.39
R0011:Krt35	UTSW	11	99,984,502 (GRCm39)	missense	probably benign	0.10
R0282:Krt35	UTSW	11	99,986,573 (GRCm39)	missense	probably damaging	0.99
R0692:Krt35	UTSW	11	99,983,896 (GRCm39)	missense	possibly damaging	0.92
R0737:Krt35	UTSW	11	99,984,620 (GRCm39)	missense	probably benign	0.33
R0750:Krt35	UTSW	11	99,986,979 (GRCm39)	missense	possibly damaging	0.69
R1815:Krt35	UTSW	11	99,986,565 (GRCm39)	missense	probably benign	0.02
R2218:Krt35	UTSW	11	99,986,988 (GRCm39)	missense	probably null
R2262:Krt35	UTSW	11	99,986,593 (GRCm39)	missense	probably benign	0.01
R4519:Krt35	UTSW	11	99,985,453 (GRCm39)	missense	possibly damaging	0.50
R4575:Krt35	UTSW	11	99,986,725 (GRCm39)	missense	probably benign	0.40
R4599:Krt35	UTSW	11	99,984,834 (GRCm39)	missense	probably damaging	1.00
R4887:Krt35	UTSW	11	99,983,956 (GRCm39)	missense	probably damaging	1.00
R5159:Krt35	UTSW	11	99,984,875 (GRCm39)	missense	probably damaging	1.00
R5575:Krt35	UTSW	11	99,985,450 (GRCm39)	missense	probably damaging	1.00
R5909:Krt35	UTSW	11	99,986,639 (GRCm39)	missense	probably damaging	0.99
R6738:Krt35	UTSW	11	99,984,535 (GRCm39)	missense	probably damaging	1.00
R7090:Krt35	UTSW	11	99,986,498 (GRCm39)	splice site	probably null
R7163:Krt35	UTSW	11	99,986,984 (GRCm39)	missense	probably damaging	0.99
R7797:Krt35	UTSW	11	99,985,713 (GRCm39)	missense	probably damaging	1.00
R8716:Krt35	UTSW	11	99,987,011 (GRCm39)	start codon destroyed	probably null	0.98
R9480:Krt35	UTSW	11	99,986,609 (GRCm39)	missense	probably benign	0.24
Z1177:Krt35	UTSW	11	99,986,883 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTGGTACAGATGCGGGTC -3'
(R):5'- TGGGGCTTGACATCGAGACAA -3'

Sequencing Primer
(F):5'- ACAGATGCGGGTCTATTTCCAG -3'
(R):5'- CAAATGAGATCACAGGTTTGGGTTCC -3'

Posted On

2016-06-21