Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Krt25'

22121

Institutional Source

Beutler Lab

Gene Symbol

Krt25

Ensembl Gene

ENSMUSG00000035831

Gene Name

keratin 25

Synonyms

4631426H08Rik, mIRSa1

MMRRC Submission

038423-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99315516-99322951 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99322698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 65 (V65E)

Ref Sequence

ENSEMBL: ENSMUSP00000048439 (fasta)

Gene Model

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

AlphaFold

Q8VCW2

Predicted Effect

probably benign
Transcript: ENSMUST00000038004
AA Change: V65E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048439
Gene: ENSMUSG00000035831
AA Change: V65E

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

0.0983

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,105,449	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,693,607	V845D	probably damaging	Het
Anxa8	T	A	14: 34,097,939	F269Y	probably benign	Het
Anxa8	T	A	14: 34,097,940	F295L	possibly damaging	Het
Aox4	C	G	1: 58,228,866	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,909,869	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843		probably benign	Het
Arhgef26	C	T	3: 62,448,259	H751Y	probably benign	Het
Asic4	A	T	1: 75,469,687	Q291L	possibly damaging	Het
Bap1	T	C	14: 31,256,724	Y31H	probably damaging	Het
Brf1	A	T	12: 112,961,139	V655D	probably damaging	Het
Cebpz	A	G	17: 78,931,391	S663P	probably benign	Het
Ces2h	A	G	8: 105,018,061	D357G	probably benign	Het
Cfap36	T	C	11: 29,244,073	T90A	probably benign	Het
Ciita	A	T	16: 10,512,270	D803V	probably damaging	Het
Clnk	C	A	5: 38,774,608		probably benign	Het
Cyp46a1	A	G	12: 108,351,211	N158S	probably damaging	Het
Cyp4f13	A	G	17: 32,941,106	I98T	possibly damaging	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dll3	T	A	7: 28,301,321	D103V	possibly damaging	Het
Dnaic1	T	A	4: 41,629,814	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,291,062	T85S	probably benign	Het
Eif4g1	A	T	16: 20,675,345	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Fn1	T	A	1: 71,624,110	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 47,869,179	D599G	unknown	Het
Frrs1	T	C	3: 116,881,807	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,949,954	D608N	probably damaging	Het
Gm1043	T	C	5: 37,192,973		probably benign	Het
Gm5148	T	C	3: 37,714,777	E98G	probably benign	Het
Gpr141	T	C	13: 19,752,258	I116V	probably benign	Het
Hic1	T	C	11: 75,167,343	N240S	probably damaging	Het
Hpx	G	A	7: 105,592,238	T322I	probably damaging	Het
Hs3st4	A	T	7: 124,397,193	M361L	probably benign	Het
Ifrd1	A	G	12: 40,207,130		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Klk1b21	T	A	7: 44,105,895	C173S	probably damaging	Het
Lrrc15	A	T	16: 30,273,449	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,851,345	V550E	probably benign	Het
Macf1	A	G	4: 123,440,747	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,196,916		probably benign	Het
Mcm5	T	A	8: 75,120,880	V435D	probably damaging	Het
Mctp1	C	T	13: 76,827,712	R478C	probably damaging	Het
Med10	T	C	13: 69,811,698		probably benign	Het
Mrpl4	T	C	9: 21,008,592	Y280H	probably benign	Het
Msrb3	T	C	10: 120,851,987	E61G	probably damaging	Het
Myo1c	T	C	11: 75,661,001	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,010,151	T165S	probably damaging	Het
Myrfl	T	A	10: 116,849,233	R81W	probably damaging	Het
Neil1	T	C	9: 57,143,746		probably benign	Het
Neto2	A	G	8: 85,641,044	I357T	possibly damaging	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,153,591	S3P	probably benign	Het
Olfr652	A	T	7: 104,565,003	I261L	probably benign	Het
Plce1	T	C	19: 38,524,419	I54T	possibly damaging	Het
Prex2	A	T	1: 11,285,043		probably benign	Het
Psapl1	T	A	5: 36,204,631	V189E	probably damaging	Het
Ptdss2	T	G	7: 141,155,319		probably benign	Het
Rnf213	T	C	11: 119,416,496	C661R	probably benign	Het
Rpap1	T	C	2: 119,764,899		probably null	Het
Rrp1b	A	G	17: 32,060,452	T696A	probably benign	Het
Sacm1l	T	A	9: 123,548,917	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,377,530	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,299,684	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,568,614		probably benign	Het
Tpst1	T	A	5: 130,101,786	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,599,626	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,501,315	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,262,334	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,837,624	T616S	probably damaging	Het
Vps13a	G	A	19: 16,660,499	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,436,041	M328L	probably benign	Het
Zp2	A	G	7: 120,137,200	F340S	probably damaging	Het

Other mutations in Krt25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Krt25	APN	11	99318170	missense	probably benign	0.28
IGL02415:Krt25	APN	11	99322572	missense	probably damaging	1.00
IGL02816:Krt25	APN	11	99318151	missense	probably benign	0.10
Plush	UTSW	11	99322635	missense	probably damaging	1.00
Sinuous	UTSW	11	99322630	missense	probably damaging	0.99
R0219:Krt25	UTSW	11	99318059	missense	probably benign	0.01
R0932:Krt25	UTSW	11	99321283	missense	possibly damaging	0.94
R1733:Krt25	UTSW	11	99316552	nonsense	probably null
R1855:Krt25	UTSW	11	99318315	missense	probably damaging	1.00
R2120:Krt25	UTSW	11	99321197	missense	probably benign	0.01
R2504:Krt25	UTSW	11	99317296	nonsense	probably null
R3615:Krt25	UTSW	11	99317298	missense	possibly damaging	0.64
R3616:Krt25	UTSW	11	99317298	missense	possibly damaging	0.64
R4590:Krt25	UTSW	11	99318028	intron	probably benign
R6250:Krt25	UTSW	11	99321163	missense	probably damaging	1.00
R6331:Krt25	UTSW	11	99317427	missense	probably damaging	1.00
R6927:Krt25	UTSW	11	99317379	missense	probably damaging	1.00
R7067:Krt25	UTSW	11	99317383	missense	probably benign	0.01
R7289:Krt25	UTSW	11	99321272	missense	probably benign	0.15
R7360:Krt25	UTSW	11	99317406	missense	probably benign	0.01
R8057:Krt25	UTSW	11	99317343	missense	probably benign	0.44
R8090:Krt25	UTSW	11	99316590	critical splice acceptor site	probably null
R8933:Krt25	UTSW	11	99321238	missense	probably benign	0.31
R8995:Krt25	UTSW	11	99316556	missense	probably benign
R9040:Krt25	UTSW	11	99316553	missense	probably benign
Z1176:Krt25	UTSW	11	99322822	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGGTGGAGGTGATGATCTGGAAACC -3'
(R):5'- ACACAGTTCAGCGACACGCTTG -3'

Sequencing Primer
(F):5'- TCAACTAAGTTATCAGCCAAGGG -3'
(R):5'- GCTTGCCCTGAGATCATGTC -3'

Posted On

2013-04-12