Mutagenetix > Incidental Mutation

Incidental Mutation 'R3716:Krt33a'

259928

Institutional Source

Beutler Lab

Gene Symbol

Krt33a

Ensembl Gene

ENSMUSG00000035592

Gene Name

keratin 33A

Synonyms

2310015J09Rik

Accession Numbers

Essential gene?

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

Stock #

R3716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99902025-99907038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99904991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 172 (C172G)

Ref Sequence

ENSEMBL: ENSMUSP00000018399 (fasta)

Gene Model

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

AlphaFold

Q8K0Y2

Predicted Effect

probably benign
Transcript: ENSMUST00000018399
AA Change: C172G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: C172G

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: 98.6%
10x: 97.3%
20x: 95.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,363 (GRCm39)	L690H	probably damaging	Het
Abtb3	C	T	10: 85,397,392 (GRCm39)	H442Y	probably damaging	Het
Acaa1b	A	G	9: 118,985,709 (GRCm39)	V72A	probably benign	Het
Actl7a	T	C	4: 56,744,295 (GRCm39)	L274P	possibly damaging	Het
Ankrd50	T	C	3: 38,508,299 (GRCm39)	E433G	probably damaging	Het
Ano6	A	G	15: 95,811,260 (GRCm39)	D120G	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Canx	A	G	11: 50,195,301 (GRCm39)	S256P	probably benign	Het
Caps2	A	G	10: 112,036,637 (GRCm39)	H399R	probably benign	Het
Col6a6	A	C	9: 105,659,373 (GRCm39)	L524R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dglucy	A	T	12: 100,816,375 (GRCm39)	N339I	probably damaging	Het
Dhrs4	G	T	14: 55,716,362 (GRCm39)	M1I	probably null	Het
Disp1	A	T	1: 182,869,315 (GRCm39)	L1035Q	probably damaging	Het
Ephb1	T	C	9: 102,071,999 (GRCm39)	E260G	probably damaging	Het
Fetub	T	A	16: 22,754,443 (GRCm39)	C217S	probably damaging	Het
Firrm	T	C	1: 163,784,457 (GRCm39)	I779M	probably damaging	Het
Frem2	T	C	3: 53,479,781 (GRCm39)	S1971G	probably damaging	Het
Gria2	A	G	3: 80,648,311 (GRCm39)	Y142H	possibly damaging	Het
Hivep1	C	T	13: 42,311,971 (GRCm39)	H1404Y	probably damaging	Het
Il21r	A	G	7: 125,231,441 (GRCm39)	K290E	probably damaging	Het
Inpp5f	C	G	7: 128,292,394 (GRCm39)	L17V	probably damaging	Het
Kcnh3	A	G	15: 99,130,646 (GRCm39)	N421S	possibly damaging	Het
Lrp6	A	T	6: 134,484,410 (GRCm39)	H404Q	probably damaging	Het
Macf1	T	C	4: 123,367,295 (GRCm39)	T924A	probably benign	Het
Mepe	C	A	5: 104,485,294 (GRCm39)	H145N	probably benign	Het
Mesp2	T	G	7: 79,462,542 (GRCm39)	L366R	possibly damaging	Het
Mink1	T	A	11: 70,498,587 (GRCm39)	L584Q	probably damaging	Het
Mms19	A	G	19: 41,933,174 (GRCm39)	V997A	probably damaging	Het
Mroh7	T	C	4: 106,561,407 (GRCm39)	E612G	probably benign	Het
Myo15b	G	T	11: 115,754,239 (GRCm39)	C913F	probably benign	Het
Nav1	A	T	1: 135,378,368 (GRCm39)	I1653K	probably damaging	Het
Neb	T	C	2: 52,167,482 (GRCm39)	E1948G	probably damaging	Het
Nelfcd	T	C	2: 174,264,798 (GRCm39)	V179A	possibly damaging	Het
Obscn	C	T	11: 58,973,487 (GRCm39)	C2157Y	probably damaging	Het
Or8i2	A	T	2: 86,852,707 (GRCm39)	Y60*	probably null	Het
Orc1	C	T	4: 108,471,656 (GRCm39)	A836V	probably damaging	Het
Pcdhb6	G	T	18: 37,469,259 (GRCm39)	V43L	probably benign	Het
Prkcd	G	T	14: 30,321,669 (GRCm39)	D393E	probably benign	Het
Rb1cc1	G	C	1: 6,340,914 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,419,988 (GRCm39)	T375S	probably benign	Het
Slc9c1	A	T	16: 45,400,582 (GRCm39)	M731L	probably benign	Het
Sox21	A	T	14: 118,472,842 (GRCm39)	M69K	probably benign	Het
Spata18	A	T	5: 73,824,193 (GRCm39)		probably null	Het
Taok1	A	G	11: 77,432,636 (GRCm39)	F726L	probably benign	Het
Ttn	G	A	2: 76,575,558 (GRCm39)	P25112S	probably damaging	Het
Ubac1	C	T	2: 25,904,953 (GRCm39)	R95H	probably damaging	Het
Usp32	A	G	11: 84,933,389 (GRCm39)	Y40H	probably damaging	Het
Usp37	A	T	1: 74,532,145 (GRCm39)	S83T	possibly damaging	Het
Vps13d	A	G	4: 144,802,296 (GRCm39)	I405T	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
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'- GGGACCTACTTCTGGATCTTG -3'

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

Posted On

2015-01-23