Mutagenetix > Incidental Mutation

Incidental Mutation 'R2075:Wdr12'

227488

Institutional Source

Beutler Lab

Gene Symbol

Wdr12

Ensembl Gene

ENSMUSG00000026019

Gene Name

WD repeat domain 12

Synonyms

Ytm1p, 4933402C23Rik, Ytm1

MMRRC Submission

040080-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60110520-60137659 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60130222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 63 (R63Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113148 (fasta)

Gene Model

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

AlphaFold

Q9JJA4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027173
AA Change: R63Q

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: R63Q

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

possibly damaging
Transcript: ENSMUST00000117438
AA Change: R63Q

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: R63Q

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

possibly damaging
Transcript: ENSMUST00000122038
AA Change: R63Q

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: R63Q

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

noncoding transcript
Transcript: ENSMUST00000133767

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141417
AA Change: R63Q

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117747
Gene: ENSMUSG00000026019
AA Change: R63Q

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

possibly damaging
Transcript: ENSMUST00000143342
AA Change: R63Q

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117391
Gene: ENSMUSG00000026019
AA Change: R63Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,472,382 (GRCm39)	F4263L	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Bahcc1	G	A	11: 120,162,515 (GRCm39)	C271Y	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,596,510 (GRCm39)	L34P	probably damaging	Het
Cd22	C	G	7: 30,569,123 (GRCm39)	C637S	probably damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Clec16a	G	A	16: 10,559,480 (GRCm39)	A918T	probably benign	Het
Clec2m	C	T	6: 129,303,666 (GRCm39)	E100K	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dna2	A	G	10: 62,805,601 (GRCm39)	Q946R	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Esr2	A	G	12: 76,212,221 (GRCm39)		probably null	Het
Fbxo9	G	T	9: 77,991,798 (GRCm39)	H397N	possibly damaging	Het
Fsip2	T	A	2: 82,818,923 (GRCm39)	N4885K	possibly damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Hivep1	A	G	13: 42,309,794 (GRCm39)	D678G	probably damaging	Het
Hmcn1	T	A	1: 150,453,074 (GRCm39)	I5414F	possibly damaging	Het
Hspb2	T	C	9: 50,662,646 (GRCm39)	Y67C	probably benign	Het
Kbtbd8	T	A	6: 95,103,664 (GRCm39)	C438S	possibly damaging	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Ky	A	G	9: 102,419,945 (GRCm39)	S651G	probably damaging	Het
Lgals12	T	C	19: 7,576,210 (GRCm39)	D238G	possibly damaging	Het
Lpcat3	T	A	6: 124,680,066 (GRCm39)	Y380N	probably damaging	Het
Mdn1	A	G	4: 32,716,058 (GRCm39)	H2080R	probably benign	Het
Mex3c	C	T	18: 73,722,840 (GRCm39)	S311L	probably benign	Het
Mlh3	A	T	12: 85,315,915 (GRCm39)	Y90*	probably null	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Myo5a	A	T	9: 75,097,200 (GRCm39)	T49S	probably benign	Het
Nsd1	T	C	13: 55,458,313 (GRCm39)	V2142A	possibly damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or51b17	T	A	7: 103,542,127 (GRCm39)	I272F	probably damaging	Het
Or51i2	T	A	7: 103,689,180 (GRCm39)	M59K	probably damaging	Het
Or5ac19	T	C	16: 59,089,274 (GRCm39)	Y252C	possibly damaging	Het
Pdgfra	T	C	5: 75,348,609 (GRCm39)	I883T	probably damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf24	A	G	4: 42,939,507 (GRCm39)	Y333C	possibly damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Piezo2	C	T	18: 63,214,805 (GRCm39)	E1263K	probably damaging	Het
Pitrm1	A	G	13: 6,605,419 (GRCm39)	T149A	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Polr2c	A	G	8: 95,590,195 (GRCm39)	I267V	probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Ptpn2	T	A	18: 67,814,545 (GRCm39)	T155S	probably damaging	Het
Ptprn2	G	A	12: 117,211,337 (GRCm39)	V839I	probably benign	Het
Sbp	A	G	17: 24,164,132 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Slc6a20b	T	A	9: 123,424,099 (GRCm39)	T623S	probably benign	Het
Sqle	T	A	15: 59,195,750 (GRCm39)	V342E	probably damaging	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnc	G	A	4: 63,913,903 (GRCm39)	T1303M	possibly damaging	Het
Traf6	A	C	2: 101,527,398 (GRCm39)	I383L	probably benign	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Vmn1r199	A	T	13: 22,567,435 (GRCm39)	Y243F	probably damaging	Het
Vmn2r111	A	C	17: 22,778,043 (GRCm39)	N545K	probably damaging	Het
Vmn2r27	T	A	6: 124,177,510 (GRCm39)	Q498L	possibly damaging	Het
Vstm4	A	T	14: 32,639,811 (GRCm39)	S229C	probably damaging	Het
Wrn	T	A	8: 33,812,357 (GRCm39)	I187L	probably benign	Het
Xirp2	A	T	2: 67,340,545 (GRCm39)	I929L	probably benign	Het
Ywhae	T	A	11: 75,655,486 (GRCm39)	D252E	probably benign	Het
Zfp944	A	T	17: 22,558,178 (GRCm39)	C356*	probably null	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
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
R5153:Wdr12	UTSW	1	60,133,670 (GRCm39)	missense	probably benign	0.08
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'- CTTAGAGGAGCTCTACAAGATGAC -3'
(R):5'- TGATGTCCCAGGAGAAGCTG -3'

Sequencing Primer
(F):5'- AAGCCTGAGGTCCTGAGTTCAATC -3'
(R):5'- CTGTGGAGTAACTGAGGCC -3'

Posted On

2014-09-17