Mutagenetix > Incidental Mutation

Incidental Mutation 'R9679:Wdr1'

728405

Institutional Source

Beutler Lab

Gene Symbol

Wdr1

Ensembl Gene

ENSMUSG00000005103

Gene Name

WD repeat domain 1

Synonyms

rede, D5Wsu185e, Aip1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38684149-38720265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38685216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 585 (L585P)

Ref Sequence

ENSEMBL: ENSMUSP00000005234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005234] [ENSMUST00000201260]

AlphaFold

O88342

Predicted Effect

probably damaging
Transcript: ENSMUST00000005234
AA Change: L585P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: L585P

Domain	Start	End	E-Value	Type
WD40	47	86	1.7e-2	SMART
WD40	91	134	5.52e0	SMART
WD40	135	175	3.69e-3	SMART
WD40	178	217	4.4e-10	SMART
WD40	220	262	1.74e-8	SMART
WD40	309	350	7.05e-9	SMART
WD40	354	392	6.9e-1	SMART
WD40	434	473	1.36e-1	SMART
WD40	478	517	7.8e-2	SMART
WD40	521	560	1.83e-7	SMART
WD40	564	603	3.71e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201260
AA Change: L312P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103
AA Change: L312P

Domain	Start	End	E-Value	Type
WD40	36	77	4.6e-11	SMART
WD40	81	119	4.5e-3	SMART
WD40	161	200	8.9e-4	SMART
WD40	205	244	4.9e-4	SMART
WD40	248	287	1.2e-9	SMART
WD40	291	330	2.4e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Severe loss of function at this locus causes embryonic lethality. Mice homozygous for a hypomorphic ENU-induced allele exhibit thrombocytopenia due to impaired megakaryocyte maturation and platelet shedding, and develop autoinflammatory disease associated with defects in neutrophil function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	A	12: 113,509,542 (GRCm39)	N638K	probably benign	Het
Arid5a	A	G	1: 36,357,648 (GRCm39)	K188E	possibly damaging	Het
Atp11a	T	C	8: 12,909,388 (GRCm39)	I1082T	possibly damaging	Het
Bdp1	T	A	13: 100,180,285 (GRCm39)	I1845F	probably damaging	Het
Ccdc87	A	C	19: 4,891,299 (GRCm39)	E597A	probably benign	Het
Cfap53	A	T	18: 74,492,656 (GRCm39)	Q460L	possibly damaging	Het
Clcn1	G	A	6: 42,263,753 (GRCm39)	S18N	probably damaging	Het
Cntnap3	C	A	13: 64,899,562 (GRCm39)	C977F	probably damaging	Het
Colec11	C	A	12: 28,644,829 (GRCm39)	V222L	probably benign	Het
Dchs2	G	T	3: 83,261,697 (GRCm39)	S2655I	probably damaging	Het
Dnah8	A	G	17: 31,037,115 (GRCm39)	T4227A	probably benign	Het
Dock5	G	A	14: 68,018,450 (GRCm39)	R1242W	probably damaging	Het
Ebf3	T	A	7: 136,832,964 (GRCm39)	N237I	possibly damaging	Het
F2rl3	T	A	8: 73,489,661 (GRCm39)	L296Q	probably damaging	Het
Fbn2	A	G	18: 58,201,433 (GRCm39)	I1328T	probably damaging	Het
Fes	T	C	7: 80,033,050 (GRCm39)	E258G	probably benign	Het
Gins4	G	A	8: 23,717,132 (GRCm39)	A212V	probably damaging	Het
Il15	T	C	8: 83,071,094 (GRCm39)	Y7C	probably benign	Het
Il9r	T	G	11: 32,140,853 (GRCm39)	H395P	probably benign	Het
Jade1	T	C	3: 41,567,569 (GRCm39)	S546P	probably damaging	Het
Krt72	C	T	15: 101,685,152 (GRCm39)	G469D	probably damaging	Het
Limd1	T	A	9: 123,308,457 (GRCm39)	M52K	probably damaging	Het
Mamdc2	T	C	19: 23,351,380 (GRCm39)	N182S	probably benign	Het
Mrpl14	A	G	17: 46,009,240 (GRCm39)	N113S	probably damaging	Het
Ms4a14	A	G	19: 11,280,048 (GRCm39)	S837P	possibly damaging	Het
Mtrex	A	G	13: 113,032,055 (GRCm39)	S586P	probably damaging	Het
Muc21	A	G	17: 35,930,491 (GRCm39)	S1232P	unknown	Het
Myh11	A	T	16: 14,095,436 (GRCm39)	Y109N		Het
Nfrkb	C	T	9: 31,321,385 (GRCm39)	T694M	probably benign	Het
Nlrp4b	T	G	7: 10,449,184 (GRCm39)	S462R	probably benign	Het
Or4k37	A	G	2: 111,159,345 (GRCm39)	T194A	probably benign	Het
Or52e2	T	C	7: 102,804,652 (GRCm39)	I101V	probably benign	Het
Or5g9	T	A	2: 85,552,482 (GRCm39)	H244Q	probably damaging	Het
Or5h19	A	G	16: 58,856,521 (GRCm39)	L193P	possibly damaging	Het
Or6c76	A	G	10: 129,611,882 (GRCm39)	Y33C	probably damaging	Het
Rasip1	T	C	7: 45,277,327 (GRCm39)	V45A	possibly damaging	Het
Rgs22	A	G	15: 36,087,587 (GRCm39)	S568P	probably benign	Het
Sephs1	T	A	2: 4,898,105 (GRCm39)	L172Q	probably damaging	Het
Slc16a3	T	C	11: 120,847,223 (GRCm39)	L137P	probably damaging	Het
Slc22a4	T	C	11: 53,881,599 (GRCm39)	Y373C	probably damaging	Het
Snx1	T	C	9: 65,998,002 (GRCm39)	D410G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stam2	G	T	2: 52,606,582 (GRCm39)	A101D	probably damaging	Het
Surf4	A	G	2: 26,814,364 (GRCm39)	F179S	probably benign	Het
Taf8	C	T	17: 47,801,101 (GRCm39)	R294Q	unknown	Het
Tnr	A	G	1: 159,719,608 (GRCm39)	T962A	probably benign	Het
Tpx2	T	A	2: 152,711,618 (GRCm39)	I51K	possibly damaging	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,394,369 (GRCm39)	Y2305N		Het
Vil1	C	A	1: 74,469,833 (GRCm39)	Q740K	probably benign	Het
Vmn1r236	T	C	17: 21,507,286 (GRCm39)	F135L	possibly damaging	Het
Vmn1r57	A	C	7: 5,224,230 (GRCm39)	I252L	probably benign	Het
Vmn2r77	T	C	7: 86,460,741 (GRCm39)	L689P	probably benign	Het
Wdr6	T	C	9: 108,450,358 (GRCm39)	I1057V	probably benign	Het

Other mutations in Wdr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Wdr1	APN	5	38,692,666 (GRCm39)	missense	probably benign	0.00
IGL01071:Wdr1	APN	5	38,687,410 (GRCm39)	missense	probably benign	0.14
IGL01293:Wdr1	APN	5	38,686,886 (GRCm39)	missense	probably benign	0.00
IGL01347:Wdr1	APN	5	38,703,058 (GRCm39)	missense	possibly damaging	0.77
IGL01532:Wdr1	APN	5	38,692,530 (GRCm39)	missense	probably damaging	1.00
IGL02409:Wdr1	APN	5	38,688,453 (GRCm39)	missense	probably benign	0.06
IGL02415:Wdr1	APN	5	38,688,453 (GRCm39)	missense	probably damaging	1.00
IGL02543:Wdr1	APN	5	38,703,165 (GRCm39)	missense	probably damaging	1.00
IGL02550:Wdr1	APN	5	38,698,206 (GRCm39)	missense	probably damaging	1.00
IGL03093:Wdr1	APN	5	38,718,472 (GRCm39)	missense	probably benign	0.01
IGL03183:Wdr1	APN	5	38,690,825 (GRCm39)	critical splice donor site	probably null
R0724:Wdr1	UTSW	5	38,698,205 (GRCm39)	missense	possibly damaging	0.87
R1509:Wdr1	UTSW	5	38,697,905 (GRCm39)	missense	probably damaging	0.96
R1589:Wdr1	UTSW	5	38,687,315 (GRCm39)	missense	probably benign	0.43
R3039:Wdr1	UTSW	5	38,687,428 (GRCm39)	missense	possibly damaging	0.94
R3767:Wdr1	UTSW	5	38,697,882 (GRCm39)	missense	probably damaging	1.00
R4833:Wdr1	UTSW	5	38,704,372 (GRCm39)	missense	probably damaging	1.00
R5405:Wdr1	UTSW	5	38,692,543 (GRCm39)	missense	probably benign	0.03
R5475:Wdr1	UTSW	5	38,686,931 (GRCm39)	missense	probably damaging	1.00
R5476:Wdr1	UTSW	5	38,686,931 (GRCm39)	missense	probably damaging	1.00
R5619:Wdr1	UTSW	5	38,686,879 (GRCm39)	missense	possibly damaging	0.93
R5852:Wdr1	UTSW	5	38,694,518 (GRCm39)	missense	probably benign	0.00
R5876:Wdr1	UTSW	5	38,687,366 (GRCm39)	missense	probably benign	0.01
R6170:Wdr1	UTSW	5	38,687,014 (GRCm39)	critical splice acceptor site	probably null
R6367:Wdr1	UTSW	5	38,703,189 (GRCm39)	missense	possibly damaging	0.68
R6524:Wdr1	UTSW	5	38,687,406 (GRCm39)	missense	probably benign	0.07
R6643:Wdr1	UTSW	5	38,697,521 (GRCm39)	missense	probably damaging	1.00
R6838:Wdr1	UTSW	5	38,687,374 (GRCm39)	missense	probably damaging	0.96
R7305:Wdr1	UTSW	5	38,697,435 (GRCm39)	missense	possibly damaging	0.90
R8364:Wdr1	UTSW	5	38,685,192 (GRCm39)	missense	possibly damaging	0.80
R8380:Wdr1	UTSW	5	38,697,864 (GRCm39)	missense	possibly damaging	0.89
R9151:Wdr1	UTSW	5	38,687,468 (GRCm39)	splice site	probably benign
R9300:Wdr1	UTSW	5	38,685,255 (GRCm39)	missense	probably damaging	0.96
R9347:Wdr1	UTSW	5	38,697,355 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAAAGCTCTCAGAAGGACGCG -3'
(R):5'- ACTTGTCCTTGTGAAAGTAGACC -3'

Sequencing Primer
(F):5'- CTCTCAGAAGGACGCGTACAG -3'
(R):5'- TCCTTGTGAAAGTAGACCTACCACTG -3'

Posted On

2022-10-06