Mutagenetix > Incidental Mutation

Incidental Mutation 'R4519:Krt35'

334136

Institutional Source

Beutler Lab

Gene Symbol

Krt35

Ensembl Gene

ENSMUSG00000048013

Gene Name

keratin 35

Synonyms

Ha5, Krt1-24

MMRRC Submission

041590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R4519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99983018-99987050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99985453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 196 (V196A)

Ref Sequence

ENSEMBL: ENSMUSP00000099416 (fasta)

Gene Model

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

AlphaFold

Q497I4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103127
AA Change: V196A

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013
AA Change: V196A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,129,092 (GRCm39)		noncoding transcript	Het
Acadsb	A	T	7: 131,031,733 (GRCm39)	T190S	probably damaging	Het
Adamts17	G	T	7: 66,490,314 (GRCm39)	G132V	probably damaging	Het
Atosa	A	G	9: 74,930,929 (GRCm39)	I957M	probably damaging	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Atp8b4	A	T	2: 126,256,379 (GRCm39)		probably null	Het
Btbd18	T	C	2: 84,497,924 (GRCm39)	Y521H	probably damaging	Het
Casd1	A	G	6: 4,621,102 (GRCm39)	N220S	probably benign	Het
Ccdc112	T	G	18: 46,420,613 (GRCm39)	E379A	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cntrl	A	T	2: 35,063,123 (GRCm39)	K1573M	probably damaging	Het
Col14a1	A	T	15: 55,251,975 (GRCm39)	I544F	unknown	Het
Cyp20a1	A	T	1: 60,426,306 (GRCm39)	Y416F	probably damaging	Het
Dagla	T	C	19: 10,247,096 (GRCm39)	K132E	probably damaging	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Ddx41	A	T	13: 55,680,957 (GRCm39)	V329E	probably damaging	Het
Dhx32	A	T	7: 133,335,838 (GRCm39)	Y272N	probably damaging	Het
Fam114a1	C	A	5: 65,163,225 (GRCm39)	P174Q	probably benign	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Ghr	T	A	15: 3,362,970 (GRCm39)	L167F	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Gm9767	T	C	10: 25,954,756 (GRCm39)		probably benign	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
Gsdme	A	T	6: 50,206,333 (GRCm39)	I170N	probably damaging	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Kmt2c	T	A	5: 25,568,475 (GRCm39)	K867M	probably damaging	Het
Ltbp1	A	T	17: 75,671,492 (GRCm39)	M1558L	probably benign	Het
Mcam	T	G	9: 44,052,640 (GRCm39)	M623R	possibly damaging	Het
Mrps26	A	T	2: 130,406,269 (GRCm39)	Q134L	probably benign	Het
Mxra8	T	C	4: 155,927,440 (GRCm39)		probably null	Het
Or13a21	A	G	7: 139,999,123 (GRCm39)	S188P	probably damaging	Het
Or52n20	G	A	7: 104,320,046 (GRCm39)	G46R	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Parg	C	A	14: 31,931,592 (GRCm39)	T404K	probably damaging	Het
Parp8	C	A	13: 117,032,209 (GRCm39)	L321F	possibly damaging	Het
Piezo2	T	C	18: 63,205,951 (GRCm39)	E1486G	probably damaging	Het
Pign	A	T	1: 105,525,391 (GRCm39)		probably null	Het
Pik3r4	A	G	9: 105,549,924 (GRCm39)	H1005R	probably damaging	Het
Ppp6r1	A	C	7: 4,644,045 (GRCm39)		probably null	Het
Ptdss2	A	G	7: 140,734,491 (GRCm39)	T309A	probably benign	Het
Ptprt	T	C	2: 161,406,609 (GRCm39)	M987V	probably damaging	Het
Rgs17	C	A	10: 5,868,192 (GRCm39)	L9F	probably benign	Het
Rock2	A	G	12: 17,027,738 (GRCm39)	R168G	probably damaging	Het
Rsph4a	T	A	10: 33,787,623 (GRCm39)	L593*	probably null	Het
Scaf11	C	A	15: 96,322,719 (GRCm39)	K108N	probably damaging	Het
Sec23b	T	A	2: 144,423,935 (GRCm39)	M528K	possibly damaging	Het
Shank2	G	A	7: 143,963,942 (GRCm39)	D727N	probably damaging	Het
Sipa1l2	T	C	8: 126,218,965 (GRCm39)	D124G	probably benign	Het
Spatc1	A	T	15: 76,176,685 (GRCm39)	I479F	probably damaging	Het
Tmem126b	A	G	7: 90,118,316 (GRCm39)	L188P	probably damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Vmn2r62	A	G	7: 42,413,957 (GRCm39)	F829L	probably damaging	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
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
R5140:Krt35	UTSW	11	99,985,343 (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'- ATGCTCACTCATCCTCCATG -3'
(R):5'- GTCCTGCTTGTCCCTGGAC -3'

Sequencing Primer
(F):5'- AATGCTCACCTCCACCTTC -3'
(R):5'- CTGGACTGGGGCTGGTAC -3'

Posted On

2015-08-18