Mutagenetix > Incidental Mutation

Incidental Mutation 'R2254:Krt33a'

241888

Institutional Source

Beutler Lab

Gene Symbol

Krt33a

Ensembl Gene

ENSMUSG00000035592

Gene Name

keratin 33A

Synonyms

2310015J09Rik

MMRRC Submission

040254-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2254 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99902025-99907038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99905004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 167 (D167E)

Ref Sequence

ENSEMBL: ENSMUSP00000018399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018399]

AlphaFold

Q8K0Y2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018399
AA Change: D167E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: D167E

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Filament	55	366	1.99e-148	SMART
internal_repeat_1	368	385	6.11e-5	PROSPERO
internal_repeat_1	384	399	6.11e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138756

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutations of this gene cause the hair coat to appear either shiny, reflective and "polished" or greasy looking, disheveled and "spikey." [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,311,365 (GRCm39)	E260G	probably benign	Het
AI429214	G	T	8: 37,460,920 (GRCm39)	D23Y	possibly damaging	Het
Alms1	A	G	6: 85,596,830 (GRCm39)	Y1021C	probably damaging	Het
Ang5	A	G	14: 44,200,074 (GRCm39)	D46G	probably benign	Het
Ano9	T	A	7: 140,683,003 (GRCm39)	D635V	probably benign	Het
Apob	C	T	12: 8,061,256 (GRCm39)	T3246I	possibly damaging	Het
Arhgef25	T	C	10: 127,025,390 (GRCm39)	E63G	probably benign	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Cdcp3	G	T	7: 130,824,634 (GRCm39)	C243F	probably damaging	Het
Cdh2	A	T	18: 16,776,985 (GRCm39)		probably null	Het
Chmp7	C	T	14: 69,958,405 (GRCm39)	V255I	probably damaging	Het
Dnhd1	T	A	7: 105,352,979 (GRCm39)	S2711T	probably damaging	Het
Gabrg1	T	A	5: 70,939,707 (GRCm39)	K137*	probably null	Het
Gdi2	T	A	13: 3,604,400 (GRCm39)		probably null	Het
Glyr1	A	G	16: 4,836,877 (GRCm39)	V429A	probably benign	Het
Gm5938	T	A	X: 77,172,161 (GRCm39)		probably null	Het
Golt1b	T	C	6: 142,341,979 (GRCm39)	L121P	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Ifi204	G	A	1: 173,589,296 (GRCm39)	T45M	possibly damaging	Het
Il18r1	A	G	1: 40,530,380 (GRCm39)	N369S	possibly damaging	Het
Kcnh1	G	T	1: 192,187,722 (GRCm39)		probably null	Het
Kitl	G	A	10: 99,915,993 (GRCm39)		probably null	Het
Lax1	A	G	1: 133,607,971 (GRCm39)	S257P	probably damaging	Het
Lepr	T	C	4: 101,672,309 (GRCm39)	I1111T	probably benign	Het
Lrrcc1	G	A	3: 14,612,315 (GRCm39)	R356H	probably damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Med11	T	C	11: 70,342,921 (GRCm39)		probably null	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nup93	T	C	8: 94,954,485 (GRCm39)		probably null	Het
Or51ag1	A	G	7: 103,155,271 (GRCm39)	V294A	probably damaging	Het
Ovch2	A	G	7: 107,389,402 (GRCm39)	V342A	probably benign	Het
Ovgp1	A	G	3: 105,894,228 (GRCm39)		probably benign	Het
Oxtr	A	T	6: 112,466,067 (GRCm39)	L231Q	probably damaging	Het
Prap1	A	G	7: 139,676,075 (GRCm39)	T30A	probably damaging	Het
Scg2	G	A	1: 79,414,217 (GRCm39)	P169S	probably damaging	Het
Scube2	A	G	7: 109,424,666 (GRCm39)	V549A	possibly damaging	Het
Slc22a12	A	T	19: 6,592,571 (GRCm39)	V57D	possibly damaging	Het
Slc22a28	A	C	19: 8,041,858 (GRCm39)	C450G	probably benign	Het
Tas2r120	A	T	6: 132,634,572 (GRCm39)	Q218L	probably benign	Het
Tbx15	A	G	3: 99,259,190 (GRCm39)	T354A	possibly damaging	Het
Trim24	A	G	6: 37,935,612 (GRCm39)	T868A	probably benign	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr20rt	T	A	12: 65,273,007 (GRCm39)	W56R	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp40	T	C	17: 23,397,344 (GRCm39)	D51G	possibly damaging	Het
Zfp64	G	A	2: 168,768,662 (GRCm39)	H317Y	probably damaging	Het

Other mutations in Krt33a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Krt33a	APN	11	99,902,843 (GRCm39)	missense	probably benign	0.35
IGL02412:Krt33a	APN	11	99,902,805 (GRCm39)	missense	probably benign	0.01
IGL02523:Krt33a	APN	11	99,902,518 (GRCm39)	missense	probably benign	0.02
Polished	UTSW	11	99,903,437 (GRCm39)	missense	probably damaging	1.00
Polished2	UTSW	11	99,906,676 (GRCm39)	missense	probably benign	0.10
Spikey	UTSW	11	99,902,765 (GRCm39)	missense	probably damaging	1.00
R0492:Krt33a	UTSW	11	99,906,909 (GRCm39)	missense	probably benign	0.02
R0496:Krt33a	UTSW	11	99,903,155 (GRCm39)	splice site	probably benign
R0691:Krt33a	UTSW	11	99,903,541 (GRCm39)	missense	probably damaging	1.00
R1077:Krt33a	UTSW	11	99,906,763 (GRCm39)	missense	probably benign
R1624:Krt33a	UTSW	11	99,905,072 (GRCm39)	missense	probably damaging	1.00
R1911:Krt33a	UTSW	11	99,903,175 (GRCm39)	missense	probably benign	0.35
R1944:Krt33a	UTSW	11	99,903,535 (GRCm39)	missense	probably benign	0.10
R1945:Krt33a	UTSW	11	99,903,535 (GRCm39)	missense	probably benign	0.10
R2255:Krt33a	UTSW	11	99,905,004 (GRCm39)	missense	possibly damaging	0.95
R3716:Krt33a	UTSW	11	99,904,991 (GRCm39)	missense	probably benign	0.01
R4377:Krt33a	UTSW	11	99,903,253 (GRCm39)	missense	possibly damaging	0.46
R5233:Krt33a	UTSW	11	99,904,961 (GRCm39)	missense	probably damaging	1.00
R6029:Krt33a	UTSW	11	99,903,289 (GRCm39)	missense	probably benign	0.01
R6316:Krt33a	UTSW	11	99,905,027 (GRCm39)	missense	probably damaging	0.98
R6807:Krt33a	UTSW	11	99,903,209 (GRCm39)	missense	possibly damaging	0.61
R7272:Krt33a	UTSW	11	99,902,837 (GRCm39)	missense	probably damaging	1.00
R7323:Krt33a	UTSW	11	99,902,801 (GRCm39)	missense	probably benign	0.08
R7461:Krt33a	UTSW	11	99,902,765 (GRCm39)	missense	probably damaging	1.00
R7613:Krt33a	UTSW	11	99,902,765 (GRCm39)	missense	probably damaging	1.00
R7657:Krt33a	UTSW	11	99,906,693 (GRCm39)	missense	probably benign
R7748:Krt33a	UTSW	11	99,902,428 (GRCm39)	missense	probably benign
R8183:Krt33a	UTSW	11	99,905,575 (GRCm39)	critical splice donor site	probably null
R8554:Krt33a	UTSW	11	99,903,209 (GRCm39)	missense	possibly damaging	0.61
R8841:Krt33a	UTSW	11	99,904,961 (GRCm39)	missense	probably damaging	1.00
R9587:Krt33a	UTSW	11	99,906,733 (GRCm39)	missense	probably damaging	1.00
R9655:Krt33a	UTSW	11	99,906,624 (GRCm39)	critical splice donor site	probably null
Z1176:Krt33a	UTSW	11	99,902,740 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TTGAGCCTCAACTCACAGC -3'
(R):5'- GACCTACTTCTGGATCTTGACAAC -3'

Sequencing Primer
(F):5'- GAGCCTCAACTCACAGCCTCTC -3'
(R):5'- TGGATCTTGACAACTTAAATAGAAGG -3'

Posted On

2014-10-16