Mutagenetix > Incidental Mutation

Incidental Mutation 'R5153:Wdr12'

395488

Institutional Source

Beutler Lab

Gene Symbol

Wdr12

Ensembl Gene

ENSMUSG00000026019

Gene Name

WD repeat domain 12

Synonyms

Ytm1p, 4933402C23Rik, Ytm1

MMRRC Submission

042735-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60110520-60137659 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60133670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 19 (D19E)

Ref Sequence

ENSEMBL: ENSMUSP00000117391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027173] [ENSMUST00000117438] [ENSMUST00000122038] [ENSMUST00000124986] [ENSMUST00000130075] [ENSMUST00000141417] [ENSMUST00000143342]

AlphaFold

Q9JJA4

Predicted Effect

probably benign
Transcript: ENSMUST00000027173
AA Change: D19E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: D19E

Domain	Start	End	E-Value	Type
Pfam:NLE	3	70	1.4e-20	PFAM
low complexity region	78	87	N/A	INTRINSIC
WD40	91	127	5.97e-1	SMART
WD40	129	171	5.77e-5	SMART
WD40	178	217	2.04e-5	SMART
WD40	246	284	1.41e-8	SMART
WD40	287	325	2.69e-5	SMART
WD40	331	371	4.34e-9	SMART
WD40	375	413	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117438
AA Change: D19E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: D19E

Domain	Start	End	E-Value	Type
Pfam:NLE	4	70	2e-19	PFAM
low complexity region	78	87	N/A	INTRINSIC
WD40	91	127	5.97e-1	SMART
WD40	129	171	5.77e-5	SMART
WD40	178	217	2.04e-5	SMART
WD40	246	284	1.41e-8	SMART
WD40	287	325	2.69e-5	SMART
WD40	331	371	4.34e-9	SMART
WD40	375	413	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122038
AA Change: D19E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: D19E

Domain	Start	End	E-Value	Type
Pfam:NLE	3	70	1.4e-20	PFAM
low complexity region	78	87	N/A	INTRINSIC
WD40	91	127	5.97e-1	SMART
WD40	129	171	5.77e-5	SMART
WD40	178	217	2.04e-5	SMART
WD40	246	284	1.41e-8	SMART
WD40	287	325	2.69e-5	SMART
WD40	331	371	4.34e-9	SMART
WD40	375	413	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124986

Predicted Effect

probably benign
Transcript: ENSMUST00000130075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133767

Predicted Effect

probably benign
Transcript: ENSMUST00000141417
AA Change: D19E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117747
Gene: ENSMUSG00000026019
AA Change: D19E

Domain	Start	End	E-Value	Type
Pfam:NLE	3	70	3.2e-22	PFAM
low complexity region	78	87	N/A	INTRINSIC
WD40	91	127	5.97e-1	SMART
Blast:WD40	129	151	4e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000143342
AA Change: D19E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117391
Gene: ENSMUSG00000026019
AA Change: D19E

Domain	Start	End	E-Value	Type
Pfam:NLE	3	70	3.2e-22	PFAM
low complexity region	78	87	N/A	INTRINSIC
WD40	91	127	5.97e-1	SMART
Blast:WD40	129	151	4e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150008

Meta Mutation Damage Score

0.2599

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,073 (GRCm39)	C257S	unknown	Het
4930596D02Rik	C	A	14: 35,532,212 (GRCm39)	R121L	probably benign	Het
Aadacl4fm1	T	A	4: 144,248,837 (GRCm39)	M68K	probably benign	Het
Acin1	A	G	14: 54,883,070 (GRCm39)	V194A	probably benign	Het
Acsm1	T	C	7: 119,239,950 (GRCm39)	I298T	possibly damaging	Het
Aoc1	A	G	6: 48,885,681 (GRCm39)	N729D	probably benign	Het
Apobr	C	T	7: 126,186,904 (GRCm39)	T20I	possibly damaging	Het
Arsb	A	G	13: 94,077,106 (GRCm39)	E491G	probably benign	Het
AW209491	C	G	13: 14,811,764 (GRCm39)	Q206E	probably benign	Het
Camsap1	A	T	2: 25,823,630 (GRCm39)	N1473K	probably damaging	Het
Casp8	A	G	1: 58,884,004 (GRCm39)	Q457R	probably benign	Het
Ccdc154	G	A	17: 25,387,315 (GRCm39)	A350T	probably damaging	Het
Cecr2	A	G	6: 120,711,521 (GRCm39)	E183G	probably benign	Het
Cep295	A	T	9: 15,268,925 (GRCm39)	S39T	probably benign	Het
Cep350	A	T	1: 155,811,692 (GRCm39)	I416K	probably damaging	Het
Cidea	C	T	18: 67,500,490 (GRCm39)	T184M	probably damaging	Het
Cnot10	G	A	9: 114,442,803 (GRCm39)	A468V	probably damaging	Het
Cstdc1	A	G	2: 148,625,360 (GRCm39)	Q98R	probably benign	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Dnah17	A	T	11: 117,973,800 (GRCm39)	C1915*	probably null	Het
Dnah2	T	C	11: 69,411,759 (GRCm39)	T288A	possibly damaging	Het
Dop1b	T	A	16: 93,570,891 (GRCm39)	M1512K	probably damaging	Het
Dsp	T	G	13: 38,366,282 (GRCm39)	I572S	probably damaging	Het
Eepd1	A	G	9: 25,498,049 (GRCm39)	H378R	probably benign	Het
Elapor1	A	T	3: 108,380,063 (GRCm39)	Y349N	possibly damaging	Het
Emilin2	A	G	17: 71,580,497 (GRCm39)	M743T	possibly damaging	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
F2rl2	A	G	13: 95,833,620 (GRCm39)	T17A	probably benign	Het
Fbxl8	T	G	8: 105,993,739 (GRCm39)	C32G	probably damaging	Het
Fbxw17	A	G	13: 50,573,897 (GRCm39)	T38A	probably damaging	Het
Flii	A	T	11: 60,607,512 (GRCm39)	L882Q	possibly damaging	Het
Focad	T	G	4: 88,278,121 (GRCm39)	S1197A	unknown	Het
H1f11-ps	A	G	19: 47,159,356 (GRCm39)	V73A	probably damaging	Het
Heatr5b	G	A	17: 79,102,536 (GRCm39)	R1281*	probably null	Het
Khdc3	A	G	9: 73,010,720 (GRCm39)	Q190R	probably benign	Het
Krt9	T	A	11: 100,082,068 (GRCm39)	D244V	probably damaging	Het
Ldhd	T	C	8: 112,353,724 (GRCm39)	E463G	probably benign	Het
Lig4	A	T	8: 10,023,003 (GRCm39)	V259E	possibly damaging	Het
Luc7l3	A	T	11: 94,186,806 (GRCm39)		probably benign	Het
Man1a2	T	C	3: 100,563,579 (GRCm39)	E22G	probably damaging	Het
Mmp23	T	G	4: 155,735,797 (GRCm39)	D258A	probably damaging	Het
Msantd2	C	T	9: 37,434,509 (GRCm39)	R250*	probably null	Het
Mynn	T	C	3: 30,665,738 (GRCm39)	S457P	probably benign	Het
Nectin1	C	T	9: 43,714,795 (GRCm39)	H50Y	probably damaging	Het
Or10a3b	T	C	7: 108,444,906 (GRCm39)	I104V	probably benign	Het
Or2d3c	C	T	7: 106,525,776 (GRCm39)	V297M	possibly damaging	Het
Or4a47	G	A	2: 89,665,578 (GRCm39)	T237I	possibly damaging	Het
Or6c6c	A	G	10: 129,541,026 (GRCm39)	N93S	probably benign	Het
Pfkfb2	G	A	1: 130,629,527 (GRCm39)	T303M	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,705 (GRCm39)	D841G	probably benign	Het
Plxna4	A	T	6: 32,201,094 (GRCm39)		probably null	Het
Podnl1	C	T	8: 84,857,272 (GRCm39)	H294Y	probably benign	Het
Ppig	T	A	2: 69,579,994 (GRCm39)	D509E	unknown	Het
Ppp1r16a	T	A	15: 76,578,596 (GRCm39)	Y433*	probably null	Het
Prdm1	A	C	10: 44,326,221 (GRCm39)	V134G	possibly damaging	Het
Prx	T	C	7: 27,217,901 (GRCm39)	S940P	probably damaging	Het
Ptprd	C	T	4: 75,930,339 (GRCm39)	V731I	probably damaging	Het
Qki	A	G	17: 10,457,820 (GRCm39)		probably null	Het
Rassf6	T	C	5: 90,754,699 (GRCm39)	K206R	possibly damaging	Het
Rdh16f2	G	A	10: 127,712,124 (GRCm39)	E194K	possibly damaging	Het
Rims1	C	A	1: 22,522,328 (GRCm39)	G457*	probably null	Het
Ripk1	T	G	13: 34,197,279 (GRCm39)	I123R	probably damaging	Het
Rnf111	A	T	9: 70,383,422 (GRCm39)	S170R	probably benign	Het
Shc3	A	T	13: 51,615,413 (GRCm39)	F181L	probably damaging	Het
Siglec1	A	C	2: 130,927,497 (GRCm39)	V103G	probably damaging	Het
Slc26a11	G	T	11: 119,268,085 (GRCm39)	A488S	possibly damaging	Het
Smoc2	A	T	17: 14,556,841 (GRCm39)	T97S	probably damaging	Het
Son	T	C	16: 91,451,910 (GRCm39)	I219T	possibly damaging	Het
Sptbn1	A	T	11: 30,071,510 (GRCm39)	I1474N	possibly damaging	Het
Syt16	A	T	12: 74,269,542 (GRCm39)	D127V	possibly damaging	Het
Tet1	G	T	10: 62,714,357 (GRCm39)	N479K	possibly damaging	Het
Thsd7a	G	A	6: 12,338,654 (GRCm39)	A1192V	probably benign	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Traj57	A	G	14: 54,396,016 (GRCm39)		probably benign	Het
Trpv1	G	T	11: 73,129,342 (GRCm39)	R86S	probably benign	Het
Usp48	T	A	4: 137,343,673 (GRCm39)	F434L	possibly damaging	Het
Vmn2r59	A	C	7: 41,691,834 (GRCm39)		probably null	Het
Vmn2r71	T	A	7: 85,268,430 (GRCm39)	I211N	possibly damaging	Het
Vps13b	T	A	15: 35,422,599 (GRCm39)	D186E	probably damaging	Het
Vps33a	A	G	5: 123,696,691 (GRCm39)	S321P	probably damaging	Het
Zc3h12c	A	G	9: 52,037,947 (GRCm39)	F278L	probably damaging	Het
Zpld1	T	C	16: 55,067,007 (GRCm39)	T183A	probably damaging	Het
Zswim2	G	T	2: 83,770,010 (GRCm39)	T68K	possibly damaging	Het

Other mutations in Wdr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Wdr12	APN	1	60,119,718 (GRCm39)	missense	probably damaging	1.00
R0313:Wdr12	UTSW	1	60,121,738 (GRCm39)	missense	possibly damaging	0.92
R0684:Wdr12	UTSW	1	60,128,525 (GRCm39)	splice site	probably benign
R1157:Wdr12	UTSW	1	60,117,389 (GRCm39)	missense	probably damaging	1.00
R1411:Wdr12	UTSW	1	60,127,231 (GRCm39)	missense	probably benign	0.01
R1539:Wdr12	UTSW	1	60,123,007 (GRCm39)	splice site	probably null
R2075:Wdr12	UTSW	1	60,130,222 (GRCm39)	missense	possibly damaging	0.77
R3113:Wdr12	UTSW	1	60,126,221 (GRCm39)	missense	probably benign	0.01
R4533:Wdr12	UTSW	1	60,117,354 (GRCm39)	missense	probably benign	0.05
R5196:Wdr12	UTSW	1	60,126,243 (GRCm39)	missense	probably damaging	1.00
R6603:Wdr12	UTSW	1	60,121,783 (GRCm39)	missense	probably damaging	1.00
R7310:Wdr12	UTSW	1	60,121,734 (GRCm39)	nonsense	probably null
R7466:Wdr12	UTSW	1	60,133,670 (GRCm39)	missense	probably benign	0.08
R7621:Wdr12	UTSW	1	60,136,748 (GRCm39)	start gained	probably benign
R7805:Wdr12	UTSW	1	60,136,753 (GRCm39)	start gained	probably benign
R7846:Wdr12	UTSW	1	60,121,225 (GRCm39)	missense	probably damaging	1.00
R8008:Wdr12	UTSW	1	60,128,494 (GRCm39)	nonsense	probably null
R8781:Wdr12	UTSW	1	60,126,300 (GRCm39)	missense	probably damaging	1.00
R8932:Wdr12	UTSW	1	60,130,202 (GRCm39)	missense	probably benign
R9202:Wdr12	UTSW	1	60,121,205 (GRCm39)	missense	possibly damaging	0.90
R9317:Wdr12	UTSW	1	60,128,455 (GRCm39)	missense	probably benign
R9606:Wdr12	UTSW	1	60,127,226 (GRCm39)	missense	possibly damaging	0.54
Z1176:Wdr12	UTSW	1	60,121,723 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACAGGCTACATGCTGTATTGAA -3'
(R):5'- GGTTGAAGTGACTTAGCTTTAATCACC -3'

Sequencing Primer
(F):5'- CAGGCTACATGCTGTATTGAAAAACC -3'
(R):5'- GTCTTGCATGAAGTACCC -3'

Posted On

2016-06-21