Mutagenetix > Incidental Mutations

Incidental Mutation 'R8558:Wdr73'

660850

Institutional Source

Beutler Lab

Gene Symbol

Wdr73

Ensembl Gene

ENSMUSG00000025722

Gene Name

WD repeat domain 73

Synonyms

2410008B13Rik, 1200011I23Rik

MMRRC Submission

Accession Numbers

Genbank: NM_028026; MGI: 1919218

Is this an essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R8558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80890723-80901269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80898506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 95 (T95I)

Ref Sequence

ENSEMBL: ENSMUSP00000026816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026816] [ENSMUST00000026817] [ENSMUST00000119428]

AlphaFold

Q9CWR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026816
AA Change: T95I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: T95I

Domain	Start	End	E-Value	Type
WD40	67	112	8.52e1	SMART
Blast:WD40	162	204	3e-6	BLAST
Blast:WD40	208	254	3e-17	BLAST
WD40	263	304	2.57e0	SMART
WD40	314	364	8.91e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026817

SMART Domains

Protein: ENSMUSP00000026817
Gene: ENSMUSG00000025723

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Bombesin	47	60	3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119428

SMART Domains

Protein: ENSMUSP00000113407
Gene: ENSMUSG00000025723

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Bombesin	47	60	1.4e-12	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: T93I

Domain	Start	End	E-Value	Type
Blast:WD40	66	111	3e-26	BLAST
Blast:WD40	182	228	4e-18	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,594,635	R51S	probably benign	Het
1700067P10Rik	G	T	17: 48,090,329	E45*	probably null	Het
4932438A13Rik	T	A	3: 37,048,601	M1443K		Het
Abcb5	T	C	12: 118,877,831	T960A	probably benign	Het
Abcc3	A	G	11: 94,351,797		probably null	Het
Adamtsl3	A	T	7: 82,428,392	D95V	possibly damaging	Het
Ash1l	T	A	3: 88,984,406	S1197R	probably damaging	Het
BC034090	T	A	1: 155,221,339	H671L	possibly damaging	Het
Btnl9	T	C	11: 49,180,792	E68G	probably benign	Het
C1qtnf1	A	T	11: 118,448,323	Y273F	probably damaging	Het
C4b	A	T	17: 34,736,567	C714S	probably damaging	Het
Carmil1	G	A	13: 24,025,880	T1204I	probably benign	Het
Ccdc105	T	C	10: 78,747,201	K450E	probably damaging	Het
Cdk12	T	C	11: 98,211,089	L591P	unknown	Het
Ces2f	T	A	8: 104,953,126	L417*	probably null	Het
Chl1	T	A	6: 103,708,429	S810R	probably benign	Het
Ckap2	A	G	8: 22,168,795	V644A	possibly damaging	Het
Ctdsp2	T	A	10: 126,993,877	V126E	probably damaging	Het
Dok6	G	T	18: 89,473,942	H170Q	probably damaging	Het
Dynlrb1	T	C	2: 155,242,808		probably null	Het
Eif5b	T	C	1: 38,044,714	L757S	probably damaging	Het
Epas1	A	C	17: 86,809,468	T189P	possibly damaging	Het
Epha10	C	A	4: 124,894,984	N283K		Het
Epha5	C	A	5: 84,059,116	G853C	probably damaging	Het
Gapvd1	A	T	2: 34,704,481	H831Q	probably damaging	Het
Gcnt3	T	A	9: 70,034,714	K191*	probably null	Het
Gm14226	T	A	2: 155,024,989	S289T	probably benign	Het
Gm4846	T	A	1: 166,487,105	D323V	probably damaging	Het
Golga3	G	T	5: 110,208,555	R1036L	possibly damaging	Het
Gopc	T	C	10: 52,353,484	Q213R	probably damaging	Het
Hrh1	G	A	6: 114,480,603	V282M	probably benign	Het
Ighv5-4	T	C	12: 113,597,458	Y114C	probably damaging	Het
Igkv10-94	A	T	6: 68,704,652	I68N	probably damaging	Het
Kcnj3	A	G	2: 55,446,863	D247G	possibly damaging	Het
Lcn6	C	A	2: 25,680,706	S102Y	probably damaging	Het
Matk	C	A	10: 81,260,931	H232N	probably benign	Het
Mcm9	C	T	10: 53,615,972	V366I	probably benign	Het
Mgea5	T	C	19: 45,758,072	S763G	probably benign	Het
Nadk	A	G	4: 155,585,387	I176V	probably benign	Het
Nlrp12	A	G	7: 3,249,481	L20P	probably damaging	Het
Olfr1118	A	T	2: 87,309,239	Q170L	probably benign	Het
Olfr1245	A	G	2: 89,574,985	L247P	probably damaging	Het
Olfr380	G	A	11: 73,453,483	S243F	probably damaging	Het
Park2	T	C	17: 11,237,585	S99P	probably benign	Het
Pcdhgb6	T	A	18: 37,744,184	D648E	probably damaging	Het
Pkd1l3	A	T	8: 109,635,380	N1018I	probably damaging	Het
Plch2	T	C	4: 154,998,934	K516E	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Pnma2	C	T	14: 66,916,523	A132V	probably benign	Het
Prune2	A	G	19: 17,122,238	E1702G	probably damaging	Het
Qars	T	A	9: 108,515,223	H756Q	probably benign	Het
Rab5a	A	G	17: 53,483,849		probably benign	Het
Rars2	A	G	4: 34,657,199	D515G	probably damaging	Het
Rpe65	T	A	3: 159,614,792	C329S	probably damaging	Het
Rps6ka2	G	A	17: 7,255,917	V231M	possibly damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,579,907		probably benign	Het
Scrt1	G	T	15: 76,519,643	S49*	probably null	Het
Sec23b	C	G	2: 144,586,388	D640E	possibly damaging	Het
Setdb1	C	T	3: 95,354,668	V96M	possibly damaging	Het
Sik3	C	A	9: 46,155,448	A175E	probably damaging	Het
Smarcad1	A	G	6: 65,083,924	K463E	probably benign	Het
Sobp	A	C	10: 43,127,892	C154G	probably damaging	Het
Sox6	A	G	7: 115,541,798	S482P	probably benign	Het
Spen	C	T	4: 141,470,370	A3396T	probably benign	Het
Spink11	T	A	18: 44,191,681	R75*	probably null	Het
Sptb	T	C	12: 76,612,787	H1113R	probably benign	Het
Sypl2	A	T	3: 108,217,688	V119E	probably damaging	Het
Tbc1d24	T	C	17: 24,208,929	S20G	unknown	Het
Top2a	A	T	11: 99,021,723	V106D	probably damaging	Het
Tspyl4	G	C	10: 34,298,265	R251P	probably damaging	Het
Ttc21a	T	A	9: 119,958,769	L801Q	probably damaging	Het
Vgll3	A	G	16: 65,827,958	E64G	probably damaging	Het
Vmn2r30	A	G	7: 7,312,656	I726T	possibly damaging	Het
Vmn2r81	T	C	10: 79,270,633	S482P	possibly damaging	Het
Wasf1	T	G	10: 40,930,652	M97R	possibly damaging	Het
Wdr33	T	A	18: 31,829,894	M98K	probably benign	Het

Other mutations in Wdr73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Wdr73	APN	7	80893663	missense	probably benign	0.01
IGL02183:Wdr73	APN	7	80893760	missense	probably damaging	1.00
IGL03253:Wdr73	APN	7	80897946	missense	probably benign	0.00
3-1:Wdr73	UTSW	7	80897959	missense	possibly damaging	0.91
R0469:Wdr73	UTSW	7	80897950	nonsense	probably null
R0507:Wdr73	UTSW	7	80891846	missense	possibly damaging	0.88
R0510:Wdr73	UTSW	7	80897950	nonsense	probably null
R1349:Wdr73	UTSW	7	80893252	missense	probably damaging	1.00
R1782:Wdr73	UTSW	7	80891778	missense	probably damaging	1.00
R1917:Wdr73	UTSW	7	80893333	missense	probably benign	0.17
R3085:Wdr73	UTSW	7	80901242	unclassified	probably benign
R4478:Wdr73	UTSW	7	80893221	missense	probably benign	0.06
R4479:Wdr73	UTSW	7	80893221	missense	probably benign	0.06
R4480:Wdr73	UTSW	7	80893221	missense	probably benign	0.06
R4910:Wdr73	UTSW	7	80891708	missense	probably damaging	0.97
R4925:Wdr73	UTSW	7	80893195	missense	probably benign	0.00
R5046:Wdr73	UTSW	7	80892425	unclassified	probably benign
R5286:Wdr73	UTSW	7	80891809	missense	probably benign	0.04
R5842:Wdr73	UTSW	7	80891710	missense	probably damaging	1.00
R6991:Wdr73	UTSW	7	80891856	missense	probably benign	0.17
R7182:Wdr73	UTSW	7	80893678	missense	possibly damaging	0.45
R7197:Wdr73	UTSW	7	80893198	missense	probably benign	0.02
R7362:Wdr73	UTSW	7	80900703	missense	probably damaging	1.00
R7771:Wdr73	UTSW	7	80893227	missense	probably benign	0.13
R8950:Wdr73	UTSW	7	80900383	missense	probably benign	0.00
X0022:Wdr73	UTSW	7	80897951	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- ACGGACTTGTAGGCTCTACTAG -3'
(R):5'- TGCTCATCTGGAAAGCAGGTG -3'

Sequencing Primer
(F):5'- GGCTCTACTAGTCAAAATGTCTGC -3'
(R):5'- GCTGGAATTTGAACTCAGGACCTTC -3'

Posted On

2021-03-08