Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Wdr12'

567470

Institutional Source

Beutler Lab

Gene Symbol

Wdr12

Ensembl Gene

ENSMUSG00000026019

Gene Name

WD repeat domain 12

Synonyms

Ytm1p, 4933402C23Rik, Ytm1

MMRRC Submission

045409-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60110520-60137659 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 60121734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 272 (C272*)

Ref Sequence

ENSEMBL: ENSMUSP00000027173 (fasta)

Gene Model

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

AlphaFold

Q9JJA4

Predicted Effect

probably null
Transcript: ENSMUST00000027173
AA Change: C272*

SMART Domains

Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: C272*

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 null
Transcript: ENSMUST00000117438
AA Change: C272*

SMART Domains

Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: C272*

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 null
Transcript: ENSMUST00000122038
AA Change: C272*

SMART Domains

Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: C272*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Abl1	T	C	2: 31,690,604 (GRCm39)	S708P	possibly damaging	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Esr1	G	A	10: 4,889,259 (GRCm39)	A386T	probably damaging	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Igsf3	T	A	3: 101,338,895 (GRCm39)	V403D	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mttp	T	C	3: 137,800,783 (GRCm39)	D759G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ncf1	A	T	5: 134,250,615 (GRCm39)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Proc	A	T	18: 32,268,952 (GRCm39)	M11K	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,099,121 (GRCm39)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,066,026 (GRCm39)	L102*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	probably benign	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
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'- TGCCAAACGTTTACAAAGGGG -3'
(R):5'- GTACTTTGGACATTACCGTCTACTC -3'

Sequencing Primer
(F):5'- CCAAACGTTTACAAAGGGGAGAATAG -3'
(R):5'- CAGGATGTCACTATGTAGCCTTGAC -3'

Posted On

2019-06-26