Mutagenetix > Incidental Mutation

Incidental Mutation 'R8554:Krt33a'

660035

Institutional Source

Beutler Lab

Gene Symbol

Krt33a

Ensembl Gene

ENSMUSG00000035592

Gene Name

keratin 33A

Synonyms

2310015J09Rik

MMRRC Submission

068517-MU

Accession Numbers

Essential gene?

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

Stock #

R8554 (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 A at 99903209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 278 (T278S)

Ref Sequence

ENSEMBL: ENSMUSP00000018399 (fasta)

Gene Model

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

AlphaFold

Q8K0Y2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018399
AA Change: T278S

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: T278S

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

Meta Mutation Damage Score

0.1273

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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
Adtrp	G	A	13: 41,969,636 (GRCm39)	T89I	possibly damaging	Het
Aopep	T	A	13: 63,444,711 (GRCm39)	Y94N	possibly damaging	Het
Apc	T	C	18: 34,445,999 (GRCm39)	V947A	probably damaging	Het
Apob	A	C	12: 8,037,830 (GRCm39)	K334N	probably damaging	Het
Camk2d	A	T	3: 126,564,448 (GRCm39)	Q119L	possibly damaging	Het
Ccdc60	A	T	5: 116,328,171 (GRCm39)	F98I	probably damaging	Het
Cd47	A	G	16: 49,688,304 (GRCm39)	T22A	probably benign	Het
Crat	A	G	2: 30,300,035 (GRCm39)	V115A	probably benign	Het
Csmd3	T	C	15: 47,507,538 (GRCm39)	M2992V	probably benign	Het
Dsg4	T	A	18: 20,586,100 (GRCm39)	N263K	probably damaging	Het
Eln	A	C	5: 134,738,964 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,523,228 (GRCm39)	E1284G	unknown	Het
Fam193a	T	A	5: 34,633,115 (GRCm39)	M122K	probably benign	Het
Fcgr1	A	T	3: 96,199,788 (GRCm39)	W40R	probably damaging	Het
Gm3486	T	A	14: 41,209,119 (GRCm39)	Q84L	probably damaging	Het
Golga2	G	A	2: 32,183,357 (GRCm39)	D80N	probably damaging	Het
Isg20	T	C	7: 78,566,425 (GRCm39)	Y125H	probably benign	Het
Kdf1	A	G	4: 133,256,188 (GRCm39)	I302V	probably damaging	Het
Kics2	T	A	10: 121,575,960 (GRCm39)	I27N	probably benign	Het
Lrp1b	T	A	2: 41,234,495 (GRCm39)	Q1038L	probably benign	Het
Marchf6	G	A	15: 31,482,976 (GRCm39)	H476Y	probably damaging	Het
Myom1	A	G	17: 71,343,448 (GRCm39)	E215G	possibly damaging	Het
Or2aa1	A	T	11: 59,480,312 (GRCm39)	L201Q	possibly damaging	Het
Or2h15	T	A	17: 38,441,489 (GRCm39)	Q198L	probably damaging	Het
Or4c122	T	C	2: 89,079,595 (GRCm39)	T148A	possibly damaging	Het
Pate11	A	G	9: 36,387,788 (GRCm39)	I25V	probably benign	Het
Pdlim2	T	A	14: 70,408,698 (GRCm39)	T173S	probably benign	Het
Pitpnb	T	C	5: 111,494,372 (GRCm39)	M74T	probably benign	Het
Pou2f2	C	A	7: 24,814,981 (GRCm39)		probably benign	Het
Rab35	A	C	5: 115,783,690 (GRCm39)		probably null	Het
Rasef	A	T	4: 73,645,844 (GRCm39)	D508E	probably benign	Het
Rev3l	T	C	10: 39,682,838 (GRCm39)	S319P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgl3	A	G	9: 21,900,159 (GRCm39)	S44P	probably benign	Het
Rnf214	C	A	9: 45,778,797 (GRCm39)		probably null	Het
Rpsa	T	C	9: 119,958,317 (GRCm39)	V76A	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,978,973 (GRCm39)	V529A	probably benign	Het
Siglecg	C	T	7: 43,058,320 (GRCm39)	S69L	probably benign	Het
Sos1	G	T	17: 80,705,842 (GRCm39)	T1243K	probably damaging	Het
Tent5a	T	C	9: 85,208,784 (GRCm39)	D13G	possibly damaging	Het
Tlcd3a	A	G	11: 76,096,244 (GRCm39)	H124R	probably damaging	Het
Tmc2	A	G	2: 130,106,084 (GRCm39)	T872A	probably benign	Het
Tnfrsf8	A	C	4: 145,023,511 (GRCm39)	C107W	probably damaging	Het
Tnn	T	C	1: 159,937,986 (GRCm39)	Y913C	probably damaging	Het
Ttn	T	C	2: 76,568,376 (GRCm39)	T19179A	probably damaging	Het
Usp42	T	A	5: 143,706,137 (GRCm39)	K294N	probably damaging	Het
Vmn1r123	T	A	7: 20,896,971 (GRCm39)	C288S	probably benign	Het
Vmn1r29	T	A	6: 58,285,191 (GRCm39)	*304K	probably null	Het
Vmn2r1	T	C	3: 63,997,334 (GRCm39)	I330T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,997 (GRCm39)	I735V	probably benign	Het
Vmn2r65	T	C	7: 84,595,960 (GRCm39)	I241M	probably benign	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
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'- AGAGCTGTTCCCTCTGAAGG -3'
(R):5'- GCATCTGAGCCCATGGTAAC -3'

Sequencing Primer
(F):5'- AAGGTTTCTGCATGACTTCCAGAG -3'
(R):5'- ATCTGAGCCCATGGTAACTCAGG -3'

Posted On

2021-01-18