Mutagenetix > Incidental Mutation

Incidental Mutation 'R9040:Krt25'

687683

Institutional Source

Beutler Lab

Gene Symbol

Krt25

Ensembl Gene

ENSMUSG00000035831

Gene Name

keratin 25

Synonyms

4631426H08Rik, mIRSa1

MMRRC Submission

068867-MU

Accession Numbers

Essential gene?

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

Stock #

R9040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99206342-99213777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99207379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 400 (Y400C)

Ref Sequence

ENSEMBL: ENSMUSP00000048439 (fasta)

Gene Model

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

AlphaFold

Q8VCW2

Predicted Effect

probably benign
Transcript: ENSMUST00000038004
AA Change: Y400C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048439
Gene: ENSMUSG00000035831
AA Change: Y400C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	C	8: 44,103,363 (GRCm39)		probably benign	Het
Agap1	T	C	1: 89,671,466 (GRCm39)	V391A	probably damaging	Het
Apba2	C	T	7: 64,393,072 (GRCm39)	A531V	possibly damaging	Het
Apcdd1	T	A	18: 63,070,414 (GRCm39)	V227E	probably damaging	Het
Bbs7	A	G	3: 36,629,987 (GRCm39)	V564A	probably benign	Het
Ccdc154	T	A	17: 25,382,793 (GRCm39)	M141K	possibly damaging	Het
Cd200l1	C	A	16: 45,264,509 (GRCm39)	K16N	possibly damaging	Het
Cdk9	C	A	2: 32,597,999 (GRCm39)	Q352H	probably benign	Het
Chsy3	T	C	18: 59,542,760 (GRCm39)	Y633H	probably damaging	Het
Cpz	T	A	5: 35,672,835 (GRCm39)	Y195F	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dhodh	A	T	8: 110,328,781 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,950,985 (GRCm39)	S517N	probably benign	Het
Dock7	A	T	4: 98,889,364 (GRCm39)	L175*	probably null	Het
Duxf1	A	G	10: 58,059,608 (GRCm39)	I382T	unknown	Het
Ect2l	A	T	10: 18,077,098 (GRCm39)	S2T	possibly damaging	Het
Epn3	G	A	11: 94,382,749 (GRCm39)	S445F	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,764,438 (GRCm39)	F1439S	probably benign	Het
Hormad1	A	T	3: 95,487,470 (GRCm39)	E289D	possibly damaging	Het
Idua	T	C	5: 108,828,929 (GRCm39)	L391P	probably damaging	Het
Kank2	G	T	9: 21,706,115 (GRCm39)	A301E	probably damaging	Het
Kcnk10	C	T	12: 98,401,098 (GRCm39)	E526K	probably benign	Het
Kif16b	T	C	2: 142,691,798 (GRCm39)	I229V	probably benign	Het
Krt26	C	T	11: 99,222,093 (GRCm39)	G405S	probably benign	Het
Krt42	G	A	11: 100,157,859 (GRCm39)	R202W	probably damaging	Het
Lbr	A	G	1: 181,644,910 (GRCm39)	V547A	probably damaging	Het
Lrrc8b	T	C	5: 105,628,161 (GRCm39)	L169P	probably benign	Het
Midn	T	A	10: 79,989,918 (GRCm39)	V262D	probably damaging	Het
Mroh9	T	A	1: 162,890,069 (GRCm39)	I223F	probably benign	Het
Mtor	C	A	4: 148,548,205 (GRCm39)	A490E	probably benign	Het
Muc16	G	A	9: 18,556,082 (GRCm39)	Q3404*	probably null	Het
Myo5a	A	T	9: 75,081,341 (GRCm39)	E975D	probably benign	Het
Ncoa7	T	C	10: 30,530,389 (GRCm39)	Y764C	probably benign	Het
Nedd4l	T	C	18: 65,342,734 (GRCm39)	L769P	probably damaging	Het
Or11g25	G	T	14: 50,722,995 (GRCm39)	G27W	probably benign	Het
Pank4	C	G	4: 155,064,559 (GRCm39)	T706R	probably benign	Het
Plxnc1	G	T	10: 94,779,379 (GRCm39)	C354*	probably null	Het
Prkca	A	G	11: 107,905,186 (GRCm39)	I184T	possibly damaging	Het
Prune2	T	C	19: 17,097,991 (GRCm39)	V1165A	probably damaging	Het
Psmc6	T	A	14: 45,581,111 (GRCm39)	D302E	probably benign	Het
Rab11fip5	A	G	6: 85,324,915 (GRCm39)	L464P	probably damaging	Het
Reg1	A	T	6: 78,403,268 (GRCm39)		probably benign	Het
Rhbdf1	T	C	11: 32,163,063 (GRCm39)	T438A	probably benign	Het
Ryr2	T	C	13: 11,609,672 (GRCm39)	R4385G	probably damaging	Het
Ryr3	A	G	2: 112,784,731 (GRCm39)	Y237H	probably damaging	Het
Scai	G	T	2: 38,965,164 (GRCm39)	T560K	probably benign	Het
Scn1a	A	G	2: 66,148,245 (GRCm39)	L80P	probably damaging	Het
Sez6	T	C	11: 77,864,762 (GRCm39)	L574P	probably benign	Het
Slc41a1	T	G	1: 131,768,623 (GRCm39)	S194A	probably damaging	Het
Slc6a7	T	C	18: 61,134,360 (GRCm39)		probably benign	Het
Slit3	A	G	11: 35,594,136 (GRCm39)	H1442R	probably damaging	Het
Sra1	A	T	18: 36,808,790 (GRCm39)	L281Q	probably damaging	Het
Steap2	A	T	5: 5,732,722 (GRCm39)	W101R	probably benign	Het
Tfap2b	C	T	1: 19,304,314 (GRCm39)	R375W	probably damaging	Het
Tfr2	A	T	5: 137,572,967 (GRCm39)	T233S	probably benign	Het
Traf3ip1	T	A	1: 91,429,092 (GRCm39)	H286Q	probably damaging	Het
Ubash3a	A	G	17: 31,457,960 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,254,311 (GRCm39)	I791T	probably damaging	Het
Zkscan4	T	C	13: 21,668,229 (GRCm39)	C256R	probably benign	Het
Zscan4-ps3	A	T	7: 11,346,638 (GRCm39)	N225Y	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
R3616: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
Z1176:Krt25	UTSW	11	99,213,648 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TACCTGTTTGGGCCAAATCATGG -3'
(R):5'- TCTAACACAGCAAGGAATGGAC -3'

Sequencing Primer
(F):5'- CATCTAGCATGCAATGGC -3'
(R):5'- GGAATGGACATTTAAAACTGTCGC -3'

Posted On

2021-11-19