Mutagenetix > Incidental Mutation

Incidental Mutation 'R0840:Krt32'

77128

Institutional Source

Beutler Lab

Gene Symbol

Krt32

Ensembl Gene

ENSMUSG00000046095

Gene Name

keratin 32

Synonyms

mHa2, Krt1-2

MMRRC Submission

039019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0840 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

99971674-99979095 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99972068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 427 (P427S)

Ref Sequence

ENSEMBL: ENSMUSP00000103042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107419]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107419
AA Change: P427S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: P427S

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
Filament	100	411	5.4e-150	SMART
low complexity region	435	448	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139873

Meta Mutation Damage Score

0.0624

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

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. As a type I hair keratin, it 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	G	12: 71,205,657 (GRCm39)	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,382,547 (GRCm39)	T234A	probably benign	Het
Acot5	G	A	12: 84,122,614 (GRCm39)	W399*	probably null	Het
Adra1a	A	G	14: 66,965,159 (GRCm39)	E383G	possibly damaging	Het
Ahnak	T	A	19: 8,982,427 (GRCm39)	I1237N	probably damaging	Het
Bsg	A	G	10: 79,545,519 (GRCm39)	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,243,150 (GRCm39)	I436F	possibly damaging	Het
Cd109	T	C	9: 78,571,612 (GRCm39)	I417T	probably benign	Het
Cep295	A	T	9: 15,245,611 (GRCm39)	D948E	probably benign	Het
Cfap92	G	T	6: 87,657,260 (GRCm39)		noncoding transcript	Het
Clcn3	C	A	8: 61,382,188 (GRCm39)	V467F	probably benign	Het
Cntnap3	T	C	13: 64,935,724 (GRCm39)	S380G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dll4	T	A	2: 119,156,966 (GRCm39)	N79K	probably benign	Het
Ep300	A	T	15: 81,529,134 (GRCm39)	N1558I	unknown	Het
Fblim1	A	G	4: 141,308,320 (GRCm39)	F330L	possibly damaging	Het
Fbxo46	T	A	7: 18,871,073 (GRCm39)	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,384,007 (GRCm39)		probably benign	Het
Foxl2	A	T	9: 98,837,984 (GRCm39)	K91*	probably null	Het
Gapvd1	C	A	2: 34,619,125 (GRCm39)	V83F	probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
Irf8	G	A	8: 121,480,220 (GRCm39)	G153S	probably benign	Het
Kcnu1	T	A	8: 26,403,712 (GRCm39)	M1K	probably null	Het
Lrp12	A	G	15: 39,739,554 (GRCm39)	S529P	probably damaging	Het
Mettl22	T	C	16: 8,300,021 (GRCm39)	V134A	probably damaging	Het
Morc2b	G	T	17: 33,355,086 (GRCm39)	H895Q	probably benign	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,298,567 (GRCm39)	S1367G	possibly damaging	Het
Or10al7	A	G	17: 38,366,463 (GRCm39)	F7S	probably benign	Het
Or56b1b	A	T	7: 108,164,823 (GRCm39)	S60T	probably benign	Het
Pcnx3	T	A	19: 5,735,729 (GRCm39)		probably null	Het
Pgap2	A	T	7: 101,886,655 (GRCm39)	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,841,798 (GRCm39)	I616M	probably damaging	Het
Pisd	A	G	5: 32,894,656 (GRCm39)	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,420,745 (GRCm39)	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,363,378 (GRCm39)	I151T	probably benign	Het
Polr3a	G	A	14: 24,502,268 (GRCm39)	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,283 (GRCm39)		probably benign	Het
Prpf39	T	G	12: 65,094,980 (GRCm39)	N219K	probably benign	Het
Rnf17	T	A	14: 56,712,904 (GRCm39)	N790K	probably damaging	Het
Slit3	C	T	11: 35,514,263 (GRCm39)		probably benign	Het
Stx1a	T	A	5: 135,070,088 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,788,777 (GRCm39)	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,414,633 (GRCm39)	I143V	probably benign	Het
Tmem41b	G	A	7: 109,580,256 (GRCm39)	S36F	probably damaging	Het
Trim5	A	T	7: 103,914,978 (GRCm39)	W364R	probably damaging	Het
Ttn	T	C	2: 76,617,155 (GRCm39)	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,275,071 (GRCm39)	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,780,821 (GRCm39)	S145T	possibly damaging	Het
Zfp882	T	A	8: 72,668,530 (GRCm39)	C452*	probably null	Het

Other mutations in Krt32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Krt32	APN	11	99,978,605 (GRCm39)	missense	probably benign	0.23
IGL01454:Krt32	APN	11	99,974,907 (GRCm39)	missense	probably damaging	1.00
IGL02268:Krt32	APN	11	99,978,967 (GRCm39)	missense	probably benign	0.21
IGL02502:Krt32	APN	11	99,978,749 (GRCm39)	missense	probably damaging	1.00
IGL02967:Krt32	APN	11	99,974,876 (GRCm39)	missense	possibly damaging	0.93
IGL02799:Krt32	UTSW	11	99,978,733 (GRCm39)	missense	possibly damaging	0.54
R1503:Krt32	UTSW	11	99,974,936 (GRCm39)	critical splice acceptor site	probably null
R1944:Krt32	UTSW	11	99,975,670 (GRCm39)	critical splice acceptor site	probably null
R1945:Krt32	UTSW	11	99,975,670 (GRCm39)	critical splice acceptor site	probably null
R2426:Krt32	UTSW	11	99,977,192 (GRCm39)	missense	possibly damaging	0.76
R3774:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R3775:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R3776:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R5522:Krt32	UTSW	11	99,977,497 (GRCm39)	critical splice donor site	probably null
R5794:Krt32	UTSW	11	99,975,812 (GRCm39)	missense	probably damaging	0.99
R6109:Krt32	UTSW	11	99,978,791 (GRCm39)	missense	probably benign	0.01
R6994:Krt32	UTSW	11	99,977,271 (GRCm39)	missense	probably damaging	1.00
R7375:Krt32	UTSW	11	99,972,050 (GRCm39)	missense	probably benign	0.18
R7577:Krt32	UTSW	11	99,972,047 (GRCm39)	missense	probably benign	0.00
R8249:Krt32	UTSW	11	99,977,548 (GRCm39)	missense	probably benign	0.00
R9207:Krt32	UTSW	11	99,977,580 (GRCm39)	missense	possibly damaging	0.61
R9303:Krt32	UTSW	11	99,972,029 (GRCm39)	missense	probably benign	0.00
R9305:Krt32	UTSW	11	99,972,029 (GRCm39)	missense	probably benign	0.00
R9684:Krt32	UTSW	11	99,977,308 (GRCm39)	missense	probably damaging	1.00
Z1088:Krt32	UTSW	11	99,979,042 (GRCm39)	missense	probably benign
Z1177:Krt32	UTSW	11	99,974,895 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCACTCTGAGAAAGCAGAGACAAC -3'
(R):5'- AGATGTGCAGTGGAGCCATTAACG -3'

Sequencing Primer
(F):5'- CGCTGAAGCAATGTATTATCAGGAC -3'
(R):5'- AGCCATTAACGAGGCTCCTG -3'

Posted On

2013-10-16