Mutagenetix > Incidental Mutation

Incidental Mutation 'R9587:Krt33a'

722844

Institutional Source

Beutler Lab

Gene Symbol

Krt33a

Ensembl Gene

ENSMUSG00000035592

Gene Name

keratin 33A

Synonyms

2310015J09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9587 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99902025-99907038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99906733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 81 (N81D)

Ref Sequence

ENSEMBL: ENSMUSP00000018399 (fasta)

Gene Model

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

AlphaFold

Q8K0Y2

Predicted Effect

probably damaging
Transcript: ENSMUST00000018399
AA Change: N81D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: N81D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,119,149 (GRCm39)	L3552Q	probably damaging	Het
Atat1	T	C	17: 36,209,182 (GRCm39)	E353G	probably benign	Het
Banf2	A	G	2: 143,907,452 (GRCm39)	K42R	probably damaging	Het
Cabp7	T	A	11: 4,688,865 (GRCm39)	M202L	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Caprin2	A	G	6: 148,770,500 (GRCm39)	V498A	probably benign	Het
Cfap161	A	G	7: 83,440,878 (GRCm39)	F150L	probably damaging	Het
Cyb5r1	G	A	1: 134,335,387 (GRCm39)	G141R	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,999,217 (GRCm39)	Q974R	probably null	Het
Eps8l3	G	A	3: 107,798,683 (GRCm39)	R523Q	probably benign	Het
Ext1	T	C	15: 52,955,808 (GRCm39)	I430V	possibly damaging	Het
Gga3	T	C	11: 115,481,717 (GRCm39)	K202R	probably damaging	Het
Gm11567	T	C	11: 99,770,136 (GRCm39)	W25R	unknown	Het
Gpr3	G	A	4: 132,937,988 (GRCm39)	A228V	probably damaging	Het
Krt10	T	C	11: 99,277,420 (GRCm39)	D426G	possibly damaging	Het
Krt24	T	A	11: 99,174,453 (GRCm39)	I205F	probably damaging	Het
Mapkbp1	T	C	2: 119,847,277 (GRCm39)	S505P	possibly damaging	Het
Matr3	A	G	18: 35,717,876 (GRCm39)	D696G	probably null	Het
Mov10	C	T	3: 104,711,899 (GRCm39)	G158S	probably benign	Het
Myh1	T	A	11: 67,102,196 (GRCm39)	M829K	probably benign	Het
Ncam2	T	C	16: 81,262,501 (GRCm39)	V318A	probably benign	Het
Ndufv3	A	G	17: 31,747,106 (GRCm39)	E332G	probably benign	Het
Ngdn	C	T	14: 55,254,578 (GRCm39)	T43M	probably benign	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Or2y17	C	T	11: 49,232,007 (GRCm39)	S216F	probably benign	Het
Or3a10	G	A	11: 73,935,360 (GRCm39)	H247Y	probably damaging	Het
Or5w17	A	T	2: 87,584,184 (GRCm39)	M51K	possibly damaging	Het
Or8u8	A	T	2: 86,011,564 (GRCm39)	V297E	probably damaging	Het
Prl2b1	G	A	13: 27,567,601 (GRCm39)	A181V	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Rubcn	T	C	16: 32,663,679 (GRCm39)	D319G	probably damaging	Het
Sfswap	G	A	5: 129,618,427 (GRCm39)	D454N	probably benign	Het
Slc38a6	G	T	12: 73,388,513 (GRCm39)	K242N	probably benign	Het
Tmigd3	A	G	3: 105,824,088 (GRCm39)	D19G	probably damaging	Het
Trim36	T	C	18: 46,308,722 (GRCm39)	E380G	probably benign	Het
Ttn	T	A	2: 76,624,976 (GRCm39)	I15201F	probably damaging	Het
Vmn2r12	A	G	5: 109,239,322 (GRCm39)	S414P	probably damaging	Het
Vmn2r82	A	T	10: 79,214,936 (GRCm39)	K306N	possibly damaging	Het
Wdfy4	A	T	14: 32,769,230 (GRCm39)	Y2232*	probably null	Het
Wdr53	A	G	16: 32,075,830 (GRCm39)	D345G	probably damaging	Het
Zfp26	G	A	9: 20,348,213 (GRCm39)	R784C	probably damaging	Het
Zfp58	A	T	13: 67,639,823 (GRCm39)	C223S	probably damaging	Het
Zfp618	A	G	4: 63,051,916 (GRCm39)	H899R		Het
Zfp963	A	G	8: 70,195,692 (GRCm39)	Y254H	probably benign	Het
Zfp994	T	C	17: 22,421,764 (GRCm39)	D17G	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
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
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'- GTGTCTCACACGTTCTCCTGAG -3'
(R):5'- CCATGCCATACAACTGCTGC -3'

Sequencing Primer
(F):5'- CCTGAGAACTTCCTGCTAGG -3'
(R):5'- ACCAGCTGCTCTTCCAGG -3'

Posted On

2022-08-09