Mutagenetix > Incidental Mutation

Incidental Mutation 'R1945:Krt33a'

216605

Institutional Source

Beutler Lab

Gene Symbol

Krt33a

Ensembl Gene

ENSMUSG00000035592

Gene Name

keratin 33A

Synonyms

2310015J09Rik

MMRRC Submission

039963-MU

Accession Numbers

Essential gene?

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

Stock #

R1945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99902025-99907038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99903535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 199 (N199S)

Ref Sequence

ENSEMBL: ENSMUSP00000018399 (fasta)

Gene Model

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

AlphaFold

Q8K0Y2

Predicted Effect

probably benign
Transcript: ENSMUST00000018399
AA Change: N199S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: N199S

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: 98.4%
10x: 96.6%
20x: 93.4%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,653,549 (GRCm39)	I33V	unknown	Het
Abca1	ACGTCTTCACCAGGTAATC	AC	4: 53,061,509 (GRCm39)		probably null	Het
Amotl2	T	C	9: 102,597,753 (GRCm39)	S171P	probably benign	Het
Armh4	T	A	14: 50,005,940 (GRCm39)	E585V	probably damaging	Het
Atf6	A	T	1: 170,682,710 (GRCm39)	V34E	probably benign	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bglap	A	G	3: 88,290,971 (GRCm39)	Y87H	probably damaging	Het
Camk2n1	G	A	4: 138,184,094 (GRCm39)	V78I	possibly damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Cdc14b	T	C	13: 64,367,704 (GRCm39)	Y208C	probably damaging	Het
Cdc42bpb	C	T	12: 111,265,567 (GRCm39)	R1455Q	probably damaging	Het
Cep170	C	A	1: 176,621,100 (GRCm39)	G26*	probably null	Het
Cfap46	A	G	7: 139,259,819 (GRCm39)	F217S	probably damaging	Het
Col11a2	A	T	17: 34,278,142 (GRCm39)	D691V	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Coq8b	CGCA	CGCAGCA	7: 26,933,405 (GRCm39)		probably benign	Het
Coq8b	GCA	GCAACA	7: 26,933,406 (GRCm39)		probably benign	Het
Dcaf5	T	C	12: 80,385,468 (GRCm39)	D886G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
Etaa1	A	G	11: 17,897,233 (GRCm39)	C295R	probably damaging	Het
Ghdc	C	T	11: 100,660,031 (GRCm39)	A239T	probably benign	Het
Grik4	T	C	9: 42,432,300 (GRCm39)	D899G	possibly damaging	Het
Hacd2	C	A	16: 34,922,354 (GRCm39)	T181K	possibly damaging	Het
Havcr2	T	C	11: 46,345,877 (GRCm39)	L17P	unknown	Het
Herc3	T	C	6: 58,864,424 (GRCm39)	V686A	probably damaging	Het
Hyal3	T	C	9: 107,462,671 (GRCm39)	L235P	probably damaging	Het
Itgb4	C	T	11: 115,884,279 (GRCm39)	Q988*	probably null	Het
Itprid2	T	C	2: 79,492,996 (GRCm39)	V1181A	probably benign	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,052,848 (GRCm39)	S394T	probably benign	Het
Lamp1	T	C	8: 13,222,545 (GRCm39)	V243A	probably benign	Het
Loxhd1	A	G	18: 77,492,504 (GRCm39)	Y1315C	probably damaging	Het
Macf1	A	T	4: 123,384,453 (GRCm39)	L1148*	probably null	Het
Mill2	A	G	7: 18,575,419 (GRCm39)	H42R	probably benign	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Myo15b	A	T	11: 115,769,224 (GRCm39)	I1472F	probably damaging	Het
Nasp	T	C	4: 116,479,965 (GRCm39)	S36G	possibly damaging	Het
Nav2	A	G	7: 49,114,620 (GRCm39)	Y868C	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Npc1l1	C	T	11: 6,175,199 (GRCm39)	W592*	probably null	Het
Nsg2	T	C	11: 32,005,068 (GRCm39)	V90A	probably damaging	Het
Odf4	T	C	11: 68,812,983 (GRCm39)	N225S	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or1j12	T	C	2: 36,343,043 (GRCm39)	W149R	probably damaging	Het
Or4c123	T	C	2: 89,127,128 (GRCm39)	Y162C	probably damaging	Het
Pcdhb4	A	T	18: 37,441,921 (GRCm39)	R410S	probably damaging	Het
Pde6c	T	A	19: 38,145,967 (GRCm39)	D418E	probably damaging	Het
Pik3ap1	A	T	19: 41,262,776 (GRCm39)	S799T	probably benign	Het
Pitx2	A	G	3: 129,012,185 (GRCm39)	N198S	probably damaging	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Recql5	G	A	11: 115,819,123 (GRCm39)	R148*	probably null	Het
Reep3	A	G	10: 66,871,678 (GRCm39)	S97P	probably damaging	Het
Rnase12	T	A	14: 51,294,463 (GRCm39)	Q72L	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Scn10a	A	T	9: 119,520,520 (GRCm39)	S127T	possibly damaging	Het
Scn7a	A	T	2: 66,506,324 (GRCm39)	W1522R	probably damaging	Het
Senp7	A	G	16: 55,944,309 (GRCm39)	H211R	probably damaging	Het
Septin10	C	T	10: 59,016,841 (GRCm39)		probably null	Het
Serpinb6d	T	C	13: 33,851,663 (GRCm39)	V140A	possibly damaging	Het
Sned1	A	G	1: 93,198,960 (GRCm39)	E457G	probably benign	Het
Spag17	A	C	3: 99,847,298 (GRCm39)	M76L	probably benign	Het
Spata31e2	C	A	1: 26,721,395 (GRCm39)	V1262F	probably benign	Het
Spata31e3	C	T	13: 50,399,527 (GRCm39)	G933E	probably damaging	Het
Sspo	A	T	6: 48,466,707 (GRCm39)	E105V	possibly damaging	Het
Stoml3	T	A	3: 53,412,866 (GRCm39)	D173E	possibly damaging	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Svil	T	C	18: 5,117,059 (GRCm39)	W2165R	probably damaging	Het
Tbl2	T	A	5: 135,186,454 (GRCm39)	S184T	possibly damaging	Het
Tdrd7	A	T	4: 45,965,474 (GRCm39)	T31S	probably benign	Het
Tmeff1	A	G	4: 48,614,960 (GRCm39)	N139S	possibly damaging	Het
Trip13	T	C	13: 74,076,043 (GRCm39)	R199G	probably damaging	Het
Tshb	G	T	3: 102,684,831 (GRCm39)	Y124*	probably null	Het
Ttn	T	C	2: 76,560,366 (GRCm39)	E29345G	probably damaging	Het
Usp33	T	A	3: 152,085,223 (GRCm39)	S620T	probably benign	Het
Vipr1	G	A	9: 121,497,540 (GRCm39)	G353R	probably damaging	Het
Vipr1	G	T	9: 121,497,541 (GRCm39)	G353V	probably damaging	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Ylpm1	T	A	12: 85,062,192 (GRCm39)	S240T	probably damaging	Het
Zfp772	A	G	7: 7,206,629 (GRCm39)	I354T	probably benign	Het
Zfp959	T	A	17: 56,204,231 (GRCm39)	Y86*	probably null	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
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
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'- GATCAGACCCTGCCTTACAGTC -3'
(R):5'- GCTTGAAGGTGCTTTGAGAAAG -3'

Sequencing Primer
(F):5'- CCTGAGTTACCATGGGCTCAGATG -3'
(R):5'- CTTGAAGGTGCTTTGAGAAAGGAATC -3'

Posted On

2014-08-01