Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Krt25'

473034

Institutional Source

Beutler Lab

Gene Symbol

Krt25

Ensembl Gene

ENSMUSG00000035831

Gene Name

keratin 25

Synonyms

4631426H08Rik, mIRSa1

MMRRC Submission

040673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99206342-99213777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99208124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 368 (V368G)

Ref Sequence

ENSEMBL: ENSMUSP00000048439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038004]

AlphaFold

Q8VCW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038004
AA Change: V368G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048439
Gene: ENSMUSG00000035831
AA Change: V368G

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	35	52	N/A	INTRINSIC
Filament	74	389	4.13e-146	SMART
low complexity region	391	403	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutations in this gene have a defect in hair formation resulting in a wavy coat and curly vibrissae. Some alleles may compromise normal growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,257 (GRCm39)	T818A	probably benign	Het
Aasdh	A	G	5: 77,036,629 (GRCm39)	V304A	probably benign	Het
Angptl3	G	A	4: 98,922,702 (GRCm39)	A248T	probably benign	Het
Ap2b1	T	A	11: 83,215,391 (GRCm39)	C112S	possibly damaging	Het
Aqr	A	T	2: 113,967,368 (GRCm39)	I549N	probably damaging	Het
Barhl1	C	T	2: 28,801,562 (GRCm39)	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942 (GRCm39)	V821A	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dnah1	A	G	14: 31,037,105 (GRCm39)	L247P	possibly damaging	Het
Dpysl2	T	A	14: 67,071,819 (GRCm39)	H107L	probably damaging	Het
Dzip3	A	G	16: 48,757,426 (GRCm39)	L869S	probably damaging	Het
Efs	T	C	14: 55,157,552 (GRCm39)	Y160C	probably damaging	Het
Enam	A	T	5: 88,652,306 (GRCm39)	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam184b	A	G	5: 45,740,157 (GRCm39)	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,572,828 (GRCm39)	Y105*	probably null	Het
Fiz1	A	G	7: 5,011,171 (GRCm39)	L449P	probably benign	Het
Foxi2	T	A	7: 135,012,180 (GRCm39)	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,666,914 (GRCm39)	R212Q	probably damaging	Het
Gm5105	C	A	3: 137,755,449 (GRCm39)	A46S	unknown	Het
Grik5	C	T	7: 24,721,996 (GRCm39)	A581T	probably benign	Het
Gse1	C	G	8: 121,299,481 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,346,740 (GRCm39)		probably benign	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Lamc1	T	C	1: 153,126,896 (GRCm39)	K417E	probably damaging	Het
Miip	A	G	4: 147,950,371 (GRCm39)	M75T	probably benign	Het
Nlrp10	A	G	7: 108,523,683 (GRCm39)	F599S	probably benign	Het
Nlrp12	T	A	7: 3,289,205 (GRCm39)	M436L	probably benign	Het
Or4b13	T	C	2: 90,082,753 (GRCm39)	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Pard6b	T	C	2: 167,929,259 (GRCm39)		probably benign	Het
Pla2g2e	G	A	4: 138,607,685 (GRCm39)	V22I	probably benign	Het
Plekhd1	A	G	12: 80,764,044 (GRCm39)	E202G	probably damaging	Het
Prss21	A	G	17: 24,091,805 (GRCm39)	T258A	probably benign	Het
Prss34	A	G	17: 25,517,820 (GRCm39)	E65G	probably benign	Het
Psap	A	G	10: 60,130,383 (GRCm39)	N149S	probably benign	Het
Ptprf	C	T	4: 118,095,080 (GRCm39)	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520 (GRCm39)	L12P	probably damaging	Het
Sf3b3	A	G	8: 111,571,155 (GRCm39)	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,065,427 (GRCm39)	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,560,886 (GRCm39)	L397Q	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Spata31e5	T	C	1: 28,815,656 (GRCm39)	D792G	probably benign	Het
Spata31g1	A	G	4: 42,971,864 (GRCm39)	N399S	probably benign	Het
Tas2r102	C	T	6: 132,739,781 (GRCm39)	Q230*	probably null	Het
Tdo2	A	G	3: 81,882,735 (GRCm39)	Y13H	possibly damaging	Het
Tmem231	C	T	8: 112,644,945 (GRCm39)	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,592,353 (GRCm39)	M254T	probably damaging	Het
Trpm1	G	A	7: 63,893,318 (GRCm39)	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,617,879 (GRCm39)	K347N	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Vash2	T	C	1: 190,702,616 (GRCm39)	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,439,866 (GRCm39)	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,760,373 (GRCm39)	T420A	probably benign	Het

Other mutations in Krt25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Krt25	APN	11	99,208,996 (GRCm39)	missense	probably benign	0.28
IGL02415:Krt25	APN	11	99,213,398 (GRCm39)	missense	probably damaging	1.00
IGL02816:Krt25	APN	11	99,208,977 (GRCm39)	missense	probably benign	0.10
Plush	UTSW	11	99,213,461 (GRCm39)	missense	probably damaging	1.00
Sinuous	UTSW	11	99,213,456 (GRCm39)	missense	probably damaging	0.99
R0138:Krt25	UTSW	11	99,213,524 (GRCm39)	missense	probably benign	0.00
R0219:Krt25	UTSW	11	99,208,885 (GRCm39)	missense	probably benign	0.01
R0932:Krt25	UTSW	11	99,212,109 (GRCm39)	missense	possibly damaging	0.94
R1733:Krt25	UTSW	11	99,207,378 (GRCm39)	nonsense	probably null
R1855:Krt25	UTSW	11	99,209,141 (GRCm39)	missense	probably damaging	1.00
R2120:Krt25	UTSW	11	99,212,023 (GRCm39)	missense	probably benign	0.01
R2504:Krt25	UTSW	11	99,208,122 (GRCm39)	nonsense	probably null
R3615:Krt25	UTSW	11	99,208,124 (GRCm39)	missense	possibly damaging	0.64
R4590:Krt25	UTSW	11	99,208,854 (GRCm39)	intron	probably benign
R6250:Krt25	UTSW	11	99,211,989 (GRCm39)	missense	probably damaging	1.00
R6331:Krt25	UTSW	11	99,208,253 (GRCm39)	missense	probably damaging	1.00
R6927:Krt25	UTSW	11	99,208,205 (GRCm39)	missense	probably damaging	1.00
R7067:Krt25	UTSW	11	99,208,209 (GRCm39)	missense	probably benign	0.01
R7289:Krt25	UTSW	11	99,212,098 (GRCm39)	missense	probably benign	0.15
R7360:Krt25	UTSW	11	99,208,232 (GRCm39)	missense	probably benign	0.01
R8057:Krt25	UTSW	11	99,208,169 (GRCm39)	missense	probably benign	0.44
R8090:Krt25	UTSW	11	99,207,416 (GRCm39)	critical splice acceptor site	probably null
R8933:Krt25	UTSW	11	99,212,064 (GRCm39)	missense	probably benign	0.31
R8995:Krt25	UTSW	11	99,207,382 (GRCm39)	missense	probably benign
R9040:Krt25	UTSW	11	99,207,379 (GRCm39)	missense	probably benign
Z1176:Krt25	UTSW	11	99,213,648 (GRCm39)	missense	probably benign	0.44

Predicted Primers

Posted On

2017-04-14