Mutagenetix > Incidental Mutation

Incidental Mutation 'R0219:Krt25'

33739

Institutional Source

Beutler Lab

Gene Symbol

Krt25

Ensembl Gene

ENSMUSG00000035831

Gene Name

keratin 25

Synonyms

4631426H08Rik, mIRSa1

MMRRC Submission

038468-MU

Accession Numbers

Essential gene?

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

Stock #

R0219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99206342-99213777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99208885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 315 (T315M)

Ref Sequence

ENSEMBL: ENSMUSP00000048439 (fasta)

Gene Model

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

AlphaFold

Q8VCW2

Predicted Effect

probably benign
Transcript: ENSMUST00000038004
AA Change: T315M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000048439
Gene: ENSMUSG00000035831
AA Change: T315M

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

0.1898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,849,885 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,371,005 (GRCm39)	M1749K	possibly damaging	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,958,906 (GRCm39)		probably benign	Het
Ankle2	C	T	5: 110,399,511 (GRCm39)	R624*	probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Brca2	A	G	5: 150,446,640 (GRCm39)		probably benign	Het
Ccdc116	T	A	16: 16,959,476 (GRCm39)	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,614,678 (GRCm39)		probably benign	Het
Ccdc80	A	G	16: 44,916,846 (GRCm39)	K534R	probably damaging	Het
Ccna1	T	C	3: 54,958,348 (GRCm39)	I112V	probably benign	Het
Cdhr1	A	C	14: 36,801,558 (GRCm39)	L795R	possibly damaging	Het
Cilp	C	A	9: 65,176,872 (GRCm39)	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,720,976 (GRCm39)		probably benign	Het
Ddx59	C	A	1: 136,360,047 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,865,996 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,658,384 (GRCm39)		probably null	Het
Dst	T	G	1: 34,342,559 (GRCm39)	S5030A	probably damaging	Het
Dysf	G	A	6: 84,106,443 (GRCm39)		probably benign	Het
Farp1	C	A	14: 121,481,012 (GRCm39)	P471Q	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,058,795 (GRCm39)	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,717,618 (GRCm39)	V21A	probably benign	Het
Gm9912	T	C	3: 148,891,131 (GRCm39)	I1V	unknown	Het
Guf1	G	A	5: 69,716,929 (GRCm39)	A164T	probably damaging	Het
Hbb-bs	T	C	7: 103,475,876 (GRCm39)	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,066,474 (GRCm39)		probably benign	Het
Iglon5	A	T	7: 43,126,261 (GRCm39)	V214E	probably damaging	Het
Isx	C	A	8: 75,616,589 (GRCm39)		probably null	Het
Kank4	T	C	4: 98,666,702 (GRCm39)	N582D	probably benign	Het
Kcp	T	A	6: 29,495,784 (GRCm39)	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,291,857 (GRCm39)	C825R	probably damaging	Het
Lrp5	A	T	19: 3,647,349 (GRCm39)	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,356,156 (GRCm39)	D921G	probably damaging	Het
Mrgprx1	C	A	7: 47,671,294 (GRCm39)	W151L	probably damaging	Het
Mylk3	T	A	8: 86,081,873 (GRCm39)	D375V	probably damaging	Het
Nav3	C	T	10: 109,702,791 (GRCm39)		probably null	Het
Ncan	A	G	8: 70,567,984 (GRCm39)	S43P	probably benign	Het
Necab3	G	T	2: 154,388,013 (GRCm39)	Q292K	probably benign	Het
Nptx2	T	C	5: 144,484,950 (GRCm39)	S148P	probably damaging	Het
Or2at4	A	T	7: 99,385,135 (GRCm39)	I262L	probably benign	Het
Or6p1	G	A	1: 174,258,032 (GRCm39)	V13I	probably benign	Het
Pde6a	A	G	18: 61,419,006 (GRCm39)	E794G	possibly damaging	Het
Pus7	T	C	5: 23,980,964 (GRCm39)	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,496,508 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,603 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,424 (GRCm39)	A78S	probably benign	Het
Shkbp1	T	C	7: 27,051,486 (GRCm39)	E191G	probably benign	Het
Slc6a18	A	T	13: 73,822,751 (GRCm39)		probably null	Het
Stxbp5	T	C	10: 9,646,272 (GRCm39)	T147A	probably benign	Het
Sv2b	A	G	7: 74,807,015 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,088,778 (GRCm39)	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,773,347 (GRCm39)	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,476,820 (GRCm39)	V814A	probably damaging	Het
Togaram2	T	C	17: 72,021,225 (GRCm39)		probably benign	Het
Tpr	T	C	1: 150,319,009 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,730,572 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,157,568 (GRCm39)	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,600,537 (GRCm39)	E1987G	probably damaging	Het
Utrn	T	C	10: 12,560,195 (GRCm39)	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,605,072 (GRCm39)	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,411,734 (GRCm39)	V278A	probably damaging	Het
Vps13d	C	T	4: 144,832,479 (GRCm39)	S2809N	probably benign	Het
Zfp212	G	A	6: 47,903,619 (GRCm39)	R68H	probably damaging	Het
Zfp442	A	T	2: 150,253,160 (GRCm39)	L33Q	probably damaging	Het
Zfp629	T	C	7: 127,211,255 (GRCm39)	S185G	probably damaging	Het
Zfp738	A	G	13: 67,831,508 (GRCm39)		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
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
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

PCR Primer
(F):5'- AGGGAAGCACTCTGAAATGACACAC -3'
(R):5'- ACTCTTGCCGAACAATGCTGTCC -3'

Sequencing Primer
(F):5'- gttcaaatcccagcaacctc -3'
(R):5'- CGAACAATGCTGTCCCTGTG -3'

Posted On

2013-05-09