Mutagenetix > Incidental Mutation

Incidental Mutation 'R8008:Wdr12'

616718

Institutional Source

Beutler Lab

Gene Symbol

Wdr12

Ensembl Gene

ENSMUSG00000026019

Gene Name

WD repeat domain 12

Synonyms

Ytm1p, 4933402C23Rik, Ytm1

MMRRC Submission

046048-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8008 (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 60128494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 85 (Y85*)

Ref Sequence

ENSEMBL: ENSMUSP00000027173 (fasta)

Gene Model

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

AlphaFold

Q9JJA4

Predicted Effect

probably null
Transcript: ENSMUST00000027173
AA Change: Y85*

SMART Domains

Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: Y85*

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: Y85*

SMART Domains

Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: Y85*

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: Y85*

SMART Domains

Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: Y85*

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: ENSMUST00000141417
AA Change: Y85*

SMART Domains

Protein: ENSMUSP00000117747
Gene: ENSMUSG00000026019
AA Change: Y85*

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 null
Transcript: ENSMUST00000143342
AA Change: Y85*

SMART Domains

Protein: ENSMUSP00000117391
Gene: ENSMUSG00000026019
AA Change: Y85*

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,429,234 (GRCm39)	I774F	probably benign	Het
Alpi	A	G	1: 87,026,384 (GRCm39)	S536P	unknown	Het
Ankar	A	G	1: 72,705,643 (GRCm39)	V789A	possibly damaging	Het
Atp5f1b	C	A	10: 127,919,277 (GRCm39)	Q28K	unknown	Het
Brpf1	T	C	6: 113,296,050 (GRCm39)	V781A	probably benign	Het
Cd177	G	A	7: 24,451,774 (GRCm39)	S414L	not run	Het
Cimip3	T	A	17: 47,747,661 (GRCm39)	E28V	probably damaging	Het
Clca3b	T	A	3: 144,550,370 (GRCm39)	T192S	probably benign	Het
Coro2a	A	T	4: 46,551,349 (GRCm39)	S119T	probably damaging	Het
Cpped1	T	C	16: 11,646,260 (GRCm39)	N164S	probably damaging	Het
Crybg2	T	A	4: 133,818,415 (GRCm39)	N1390K	probably damaging	Het
Epn2	C	T	11: 61,437,492 (GRCm39)	A27T	probably damaging	Het
Esp34	T	C	17: 38,870,490 (GRCm39)	F128S	possibly damaging	Het
Evpl	T	A	11: 116,121,298 (GRCm39)	N410Y	probably null	Het
Flnb	A	G	14: 7,892,155 (GRCm38)	Y608C	probably damaging	Het
Fpr3	T	C	17: 18,191,715 (GRCm39)	S329P	probably benign	Het
Frem2	T	A	3: 53,560,331 (GRCm39)	N1392I	probably damaging	Het
Garin2	T	A	12: 78,761,817 (GRCm39)	D160E	probably benign	Het
Gpi1	G	T	7: 33,917,726 (GRCm39)	N249K	probably damaging	Het
Gpr87	T	C	3: 59,087,466 (GRCm39)	N13S	probably benign	Het
Gys2	T	C	6: 142,400,243 (GRCm39)	T323A	probably damaging	Het
Iqgap3	T	C	3: 88,016,770 (GRCm39)	I1084T	probably damaging	Het
Lrfn4	C	G	19: 4,663,565 (GRCm39)	G323A	probably benign	Het
Lrrc4c	A	T	2: 97,460,594 (GRCm39)	S407C	possibly damaging	Het
Map3k20	A	T	2: 72,268,613 (GRCm39)	Q540L	probably benign	Het
Myom1	T	C	17: 71,407,057 (GRCm39)	V1158A	probably benign	Het
Ncor2	T	C	5: 125,144,983 (GRCm39)	D378G	unknown	Het
Nhsl1	T	A	10: 18,284,186 (GRCm39)	D42E	probably damaging	Het
Nr0b2	C	A	4: 133,283,339 (GRCm39)	A192E	probably benign	Het
Nt5c1b	A	G	12: 10,425,000 (GRCm39)	D182G	possibly damaging	Het
Or12d14-ps1	T	C	17: 37,673,265 (GRCm39)	S86P	probably damaging	Het
Or4c115	A	T	2: 88,928,059 (GRCm39)	C71S	probably benign	Het
Or5b119	T	C	19: 13,457,170 (GRCm39)	T131A	probably benign	Het
Or5k15	T	C	16: 58,710,251 (GRCm39)	T111A	probably benign	Het
Or8b12	A	T	9: 37,658,089 (GRCm39)	I220F	probably damaging	Het
Pepd	A	G	7: 34,721,126 (GRCm39)	N250S	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pmp22	C	T	11: 63,049,233 (GRCm39)	R159C	probably damaging	Het
Pou3f1	C	T	4: 124,552,764 (GRCm39)	A422V	unknown	Het
Rab11fip3	A	G	17: 26,286,956 (GRCm39)	L399P	probably damaging	Het
Rragc	A	G	4: 123,829,340 (GRCm39)	D352G	probably damaging	Het
Ryr2	A	G	13: 11,671,980 (GRCm39)	V3420A	probably benign	Het
Sez6	T	A	11: 77,864,082 (GRCm39)	Y521*	probably null	Het
Smc4	T	C	3: 68,914,645 (GRCm39)	V86A	probably damaging	Het
Stap2	T	A	17: 56,304,790 (GRCm39)	M331L	probably benign	Het
Syt8	G	A	7: 141,992,259 (GRCm39)	R89H	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trim21	G	T	7: 102,209,183 (GRCm39)	T280K	probably benign	Het
Trim36	C	A	18: 46,305,556 (GRCm39)	V476F	probably benign	Het
Troap	G	T	15: 98,973,511 (GRCm39)	R56L	probably benign	Het
Ttn	A	T	2: 76,667,130 (GRCm39)	I11492K	unknown	Het
Tuft1	T	C	3: 94,521,440 (GRCm39)	T390A	probably damaging	Het
Ucp1	T	C	8: 84,020,640 (GRCm39)	I150T	probably benign	Het
Usp17lb	A	T	7: 104,490,481 (GRCm39)	C149S	possibly damaging	Het
Vmn1r159	A	T	7: 22,542,665 (GRCm39)	N122K	possibly damaging	Het
Vmn1r237	T	C	17: 21,534,456 (GRCm39)	C60R	probably damaging	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Wdr97	G	A	15: 76,244,832 (GRCm39)	E1125K		Het
Zan	T	C	5: 137,403,624 (GRCm39)	E3974G	unknown	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
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'- AGCCAATTTGGTGTGGCC -3'
(R):5'- GAGCATACTTAACATTTTAGCCAGTC -3'

Sequencing Primer
(F):5'- GTGTGGCCACCAACATACACAG -3'
(R):5'- TGTCAAGACAGGCCATTCTG -3'

Posted On

2020-01-23