Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Wdr12'

690192

Institutional Source

Beutler Lab

Gene Symbol

Wdr12

Ensembl Gene

ENSMUSG00000026019

Gene Name

WD repeat domain 12

Synonyms

Ytm1p, 4933402C23Rik, Ytm1

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60110520-60137659 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60130202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 70 (M70L)

Ref Sequence

ENSEMBL: ENSMUSP00000027173 (fasta)

Gene Model

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

AlphaFold

Q9JJA4

Predicted Effect

probably benign
Transcript: ENSMUST00000027173
AA Change: M70L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: M70L

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: M70L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: M70L

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: M70L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: M70L

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: ENSMUST00000141417
AA Change: M70L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117747
Gene: ENSMUSG00000026019
AA Change: M70L

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: M70L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117391
Gene: ENSMUSG00000026019
AA Change: M70L

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

Meta Mutation Damage Score

0.0894

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	G	T	8: 44,105,192 (GRCm39)	T151K	probably benign	Het
Adnp2	C	T	18: 80,185,893 (GRCm39)	G27S	probably damaging	Het
Ank3	A	G	10: 69,660,292 (GRCm39)	M265V	probably benign	Het
Aoc1l1	G	A	6: 48,952,428 (GRCm39)	E118K	probably damaging	Het
Apoe	T	C	7: 19,430,597 (GRCm39)	D215G	possibly damaging	Het
Atp5f1b	A	G	10: 127,924,850 (GRCm39)	I438V	probably benign	Het
Bckdha	A	G	7: 25,330,436 (GRCm39)	S387P	probably damaging	Het
Camkk1	T	C	11: 72,924,734 (GRCm39)	F316L	probably damaging	Het
Carmil1	A	G	13: 24,197,179 (GRCm39)	Y158H		Het
Ccdc148	T	C	2: 58,894,054 (GRCm39)	R29G	probably benign	Het
Ccdc39	A	G	3: 33,884,274 (GRCm39)	V356A	probably benign	Het
Cdan1	G	A	2: 120,561,568 (GRCm39)	Q66*	probably null	Het
Ckap4	A	T	10: 84,364,290 (GRCm39)	S258T	probably benign	Het
Col5a2	T	C	1: 45,419,306 (GRCm39)	D1258G	probably benign	Het
Col6a1	G	A	10: 76,552,593 (GRCm39)	P431L	unknown	Het
Cplane1	A	G	15: 8,223,859 (GRCm39)	Y874C	probably damaging	Het
Csn1s2a	A	G	5: 87,933,164 (GRCm39)	I138V	probably benign	Het
Cyp19a1	C	T	9: 54,083,861 (GRCm39)	G176D	probably benign	Het
Dnah10	A	G	5: 124,878,015 (GRCm39)	E2700G	possibly damaging	Het
Eif3l	T	A	15: 78,960,006 (GRCm39)	Y23*	probably null	Het
Fam72a	A	G	1: 131,456,502 (GRCm39)	K22E	probably benign	Het
Golim4	A	G	3: 75,805,351 (GRCm39)	V258A	probably benign	Het
Gtf2ird2	C	T	5: 134,237,739 (GRCm39)	A272V	probably benign	Het
Hpse	T	C	5: 100,846,872 (GRCm39)	T186A	possibly damaging	Het
Ift140	A	T	17: 25,305,862 (GRCm39)	Q816H	probably benign	Het
Iqca1	A	T	1: 90,067,750 (GRCm39)	I167N	probably damaging	Het
Iqgap1	A	T	7: 80,401,141 (GRCm39)	F515L	probably benign	Het
Itgb4	G	A	11: 115,879,295 (GRCm39)	R558H	probably benign	Het
Kcna10	G	A	3: 107,101,419 (GRCm39)	D17N	probably damaging	Het
Kcnj16	A	G	11: 110,915,829 (GRCm39)	I164V	probably damaging	Het
Lrrc55	G	T	2: 85,026,615 (GRCm39)	N136K	probably damaging	Het
Mdm4	A	T	1: 132,940,382 (GRCm39)	M50K	probably benign	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Mindy4	G	A	6: 55,201,115 (GRCm39)	D267N	probably benign	Het
Mllt10	T	A	2: 18,128,617 (GRCm39)	S199R	probably benign	Het
Mms22l	T	C	4: 24,533,029 (GRCm39)	S436P	probably damaging	Het
Mpped2	A	G	2: 106,697,395 (GRCm39)	N290S	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,445 (GRCm39)	L271P	probably benign	Het
Myrf	T	A	19: 10,200,931 (GRCm39)	E247D	probably benign	Het
Ndrg3	A	G	2: 156,782,299 (GRCm39)	I189T	possibly damaging	Het
Nenf	C	T	1: 191,050,148 (GRCm39)	E48K	probably benign	Het
Nlgn2	T	A	11: 69,718,994 (GRCm39)	N232Y	probably damaging	Het
Oog2	G	T	4: 143,920,685 (GRCm39)	M39I	probably benign	Het
Or9r7	A	T	10: 129,962,631 (GRCm39)	N98K	probably benign	Het
Osbpl3	A	T	6: 50,304,371 (GRCm39)	N461K	probably benign	Het
P4ha1	A	G	10: 59,175,130 (GRCm39)	D30G	possibly damaging	Het
Pappa2	A	T	1: 158,590,762 (GRCm39)	C1631S	probably damaging	Het
Pigk	A	G	3: 152,445,871 (GRCm39)	M161V	possibly damaging	Het
Prdm1	G	T	10: 44,317,335 (GRCm39)	S496Y	probably damaging	Het
Prkg2	T	C	5: 99,095,299 (GRCm39)	N624S	possibly damaging	Het
Rgs6	A	G	12: 83,112,733 (GRCm39)	D181G	probably damaging	Het
Sbf2	A	G	7: 110,040,155 (GRCm39)		probably null	Het
Sbno2	A	C	10: 79,898,042 (GRCm39)	L728W	probably damaging	Het
Selenbp2	A	T	3: 94,609,793 (GRCm39)	I310F	probably damaging	Het
Shank3	T	A	15: 89,432,986 (GRCm39)	W1244R	possibly damaging	Het
Slc34a1	A	C	13: 24,004,184 (GRCm39)	I395L	probably benign	Het
Slf1	A	T	13: 77,194,693 (GRCm39)	D877E	probably damaging	Het
Smtn	T	C	11: 3,472,908 (GRCm39)	S255G	probably benign	Het
Tbx2	T	A	11: 85,725,533 (GRCm39)	D161E	probably damaging	Het
Tex14	C	A	11: 87,324,675 (GRCm39)	L26M	possibly damaging	Het
Traf7	A	G	17: 24,731,286 (GRCm39)	F249S	probably damaging	Het
Trpm6	A	G	19: 18,815,366 (GRCm39)	K1151E	possibly damaging	Het
Ttc7b	A	G	12: 100,268,022 (GRCm39)	V773A	probably benign	Het
Ttn	G	A	2: 76,747,912 (GRCm39)	T4379I	probably benign	Het
Ttn	G	A	2: 76,602,854 (GRCm39)	T18456I	probably damaging	Het
Ttn	G	C	2: 76,709,171 (GRCm39)	L8703V	unknown	Het
Ubb	T	A	11: 62,442,979 (GRCm39)	I3N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,343 (GRCm39)	W116R	probably damaging	Het
Vmn1r75	A	G	7: 11,614,838 (GRCm39)	D190G	probably damaging	Het
Wdr48	C	A	9: 119,740,142 (GRCm39)	T317K	probably damaging	Het
Zbtb5	A	G	4: 44,993,962 (GRCm39)	V474A	probably benign	Het
Zfp128	C	T	7: 12,625,113 (GRCm39)	R494C	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
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
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'- ACTCTTAGAGGAGCTCTACAAGATGAC -3'
(R):5'- AGCTGTGGAGTAACTGAGGC -3'

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

Posted On

2021-11-19