Mutagenetix > Incidental Mutation

Incidental Mutation 'R5233:Krt33a'

398150

Institutional Source

Beutler Lab

Gene Symbol

Krt33a

Ensembl Gene

ENSMUSG00000035592

Gene Name

keratin 33A

Synonyms

2310015J09Rik

MMRRC Submission

042805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99902025-99907038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99904961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 182 (S182P)

Ref Sequence

ENSEMBL: ENSMUSP00000018399 (fasta)

Gene Model

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

AlphaFold

Q8K0Y2

Predicted Effect

probably damaging
Transcript: ENSMUST00000018399
AA Change: S182P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: S182P

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

Meta Mutation Damage Score

0.3171

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (56/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030619P08Rik	T	A	15: 75,301,801 (GRCm39)		noncoding transcript	Het
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Acsl6	G	A	11: 54,216,432 (GRCm39)	V200I	possibly damaging	Het
Alms1	T	A	6: 85,633,353 (GRCm39)		probably null	Het
Arhgef17	A	T	7: 100,530,576 (GRCm39)	D1403E	possibly damaging	Het
Atp10b	A	G	11: 43,121,387 (GRCm39)	T1017A	probably benign	Het
Capg	C	T	6: 72,532,509 (GRCm39)	R25C	probably damaging	Het
Cd22	A	G	7: 30,576,959 (GRCm39)	I116T	probably damaging	Het
Cep135	AGTCTGCCTTTGG	A	5: 76,739,690 (GRCm39)		probably benign	Het
Ciita	A	T	16: 10,327,265 (GRCm39)	I277F	possibly damaging	Het
Col15a1	T	C	4: 47,296,112 (GRCm39)	V943A	possibly damaging	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Csn3	C	T	5: 88,077,694 (GRCm39)	P67S	probably benign	Het
Csrnp3	A	G	2: 65,852,684 (GRCm39)	T359A	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,912,357 (GRCm39)	L509P	probably damaging	Het
Dclk3	A	G	9: 111,297,749 (GRCm39)	D431G	probably benign	Het
Dtx3l	A	T	16: 35,753,608 (GRCm39)	C333S	possibly damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Fam171a1	G	C	2: 3,179,390 (GRCm39)	G72A	probably damaging	Het
Fbxw17	T	C	13: 50,586,390 (GRCm39)		probably benign	Het
Fry	A	G	5: 150,393,185 (GRCm39)	D605G	possibly damaging	Het
Fyn	T	C	10: 39,405,936 (GRCm39)	F240S	probably benign	Het
Gcfc2	T	C	6: 81,930,271 (GRCm39)	L646P	probably damaging	Het
Gm5087	C	T	14: 13,158,788 (GRCm38)		noncoding transcript	Het
Got2	T	A	8: 96,602,477 (GRCm39)	N91I	probably benign	Het
Hspa4	C	T	11: 53,177,802 (GRCm39)	V103I	possibly damaging	Het
Itgad	A	G	7: 127,792,600 (GRCm39)		probably null	Het
Mcph1	T	C	8: 18,721,254 (GRCm39)	I694T	probably damaging	Het
Mmp15	T	C	8: 96,097,696 (GRCm39)	V502A	probably benign	Het
Mov10l1	T	C	15: 88,867,235 (GRCm39)	V23A	probably benign	Het
Myo9a	T	A	9: 59,817,900 (GRCm39)	N2322K	probably damaging	Het
Ndst4	A	G	3: 125,503,766 (GRCm39)	Y11C	probably damaging	Het
Nell1	T	C	7: 49,826,062 (GRCm39)	F199S	probably damaging	Het
Nup210	C	T	6: 91,003,951 (GRCm39)	V646M	probably damaging	Het
Nup98	A	T	7: 101,845,029 (GRCm39)	S13R	unknown	Het
Nxf1	T	C	19: 8,741,293 (GRCm39)	I54T	possibly damaging	Het
Or8b38	A	G	9: 37,973,446 (GRCm39)	T277A	probably damaging	Het
Pcdh10	C	A	3: 45,338,626 (GRCm39)	R928S	probably damaging	Het
Pou3f3	A	G	1: 42,737,438 (GRCm39)	N378S	probably benign	Het
Rfx6	T	A	10: 51,588,187 (GRCm39)	Y109*	probably null	Het
Rorc	T	A	3: 94,304,632 (GRCm39)	V339D	probably benign	Het
Scin	T	A	12: 40,127,558 (GRCm39)	I411F	probably benign	Het
Serpind1	A	G	16: 17,154,758 (GRCm39)	Y195C	probably damaging	Het
Tas2r117	T	C	6: 132,780,585 (GRCm39)	V241A	possibly damaging	Het
Tet3	T	A	6: 83,363,045 (GRCm39)	E709V	probably damaging	Het
Trbc1	T	A	6: 41,515,383 (GRCm39)		probably benign	Het
Vmn1r212	C	A	13: 23,067,304 (GRCm39)	G343V	unknown	Het
Vmn2r42	T	A	7: 8,197,837 (GRCm39)	K261*	probably null	Het
Xrcc5	T	A	1: 72,379,209 (GRCm39)	L438Q	probably damaging	Het
Zfp142	T	C	1: 74,624,608 (GRCm39)	N72S	probably damaging	Het
Zfp292	A	T	4: 34,809,755 (GRCm39)	S1096R	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
R2254:Krt33a	UTSW	11	99,905,004 (GRCm39)	missense	possibly damaging	0.95
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
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'- GACTGAGCTAGCCAACTTCC -3'
(R):5'- CAAAGCAGAGTCTGGGCTAG -3'

Sequencing Primer
(F):5'- GAGCTAGCCAACTTCCTTTATTC -3'
(R):5'- TGGGCTAGGCATGCTCCTAC -3'

Posted On

2016-07-06