Mutagenetix > Incidental Mutation

Incidental Mutation 'R8682:Wdr60'

661830

Institutional Source

Beutler Lab

Gene Symbol

Wdr60

Ensembl Gene

ENSMUSG00000042050

Gene Name

WD repeat domain 60

Synonyms

D430033N04Rik

MMRRC Submission

068537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116206262-116263022 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116224990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 661 (H661Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039349]

AlphaFold

Q8C761

Predicted Effect

probably damaging
Transcript: ENSMUST00000039349
AA Change: H661Q

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

SMART Domains

Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: H661Q

Domain	Start	End	E-Value	Type
coiled coil region	84	122	N/A	INTRINSIC
low complexity region	168	193	N/A	INTRINSIC
low complexity region	226	242	N/A	INTRINSIC
coiled coil region	280	309	N/A	INTRINSIC
low complexity region	319	337	N/A	INTRINSIC
low complexity region	439	453	N/A	INTRINSIC
WD40	629	668	2.77e-1	SMART
Blast:WD40	694	755	2e-7	BLAST
WD40	846	881	3.84e0	SMART
WD40	884	926	5.55e-1	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.7%

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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,423,899	L141Q	probably null	Het
Abtb2	A	T	2: 103,567,375	T217S	probably benign	Het
Adcy1	T	C	11: 7,161,328	I873T	probably damaging	Het
Angpt4	A	G	2: 151,927,085	M172V	probably benign	Het
Apaf1	A	T	10: 90,995,670	V1194D	probably damaging	Het
Arhgap30	T	C	1: 171,407,402	S479P	probably benign	Het
Asah2	C	T	19: 32,052,877	V132M	probably damaging	Het
Bmp10	A	G	6: 87,433,559		probably null	Het
Bsn	T	C	9: 108,106,169	Y790C		Het
Cacna2d1	C	A	5: 16,353,839	R732S	possibly damaging	Het
Casr	A	T	16: 36,495,422	F762Y	possibly damaging	Het
Cbln1	T	C	8: 87,472,107	D45G	possibly damaging	Het
Cd177	A	T	7: 24,760,013	M61K	possibly damaging	Het
Cdh11	T	C	8: 102,650,716	I433V	probably benign	Het
Cdhr5	A	G	7: 141,275,986		probably null	Het
Col12a1	T	A	9: 79,661,076	K1622I	probably benign	Het
Cyp2d9	A	G	15: 82,453,716	D103G	probably damaging	Het
Fem1b	A	T	9: 62,797,150	L276*	probably null	Het
Fggy	T	A	4: 95,812,121	V343E	probably damaging	Het
Flt3	A	G	5: 147,383,455	V33A	probably benign	Het
Gm6904	G	A	14: 59,258,584	T27I	probably benign	Het
Gm8994	A	G	6: 136,329,029	T163A	possibly damaging	Het
Grn	T	C	11: 102,434,820	Y288H	probably benign	Het
Grtp1	G	A	8: 13,179,499	R272W	probably damaging	Het
H2-Aa	A	G	17: 34,283,760	I144T	possibly damaging	Het
Herc1	A	G	9: 66,462,848	D469G		Het
Hsf2	G	A	10: 57,505,171	E286K	possibly damaging	Het
Hydin	A	G	8: 110,309,166	E163G	probably damaging	Het
Il6ra	A	G	3: 89,886,669	I224T	possibly damaging	Het
Itih3	T	A	14: 30,920,716	I204F	possibly damaging	Het
Kcnj9	A	T	1: 172,326,113	M148K	possibly damaging	Het
Lepr	T	G	4: 101,792,072	V890G	probably benign	Het
Mslnl	A	G	17: 25,746,988	D612G	probably benign	Het
Myl2	T	A	5: 122,106,735	V156D	probably damaging	Het
Neb	C	A	2: 52,246,845	W3208L	probably damaging	Het
Neto2	T	C	8: 85,640,666	Y511C	probably benign	Het
Obox2	C	A	7: 15,396,987	T48K	possibly damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr305	C	T	7: 86,364,165	M57I	probably damaging	Het
Olfr568	T	A	7: 102,877,439	F106L	probably benign	Het
Osbpl6	C	G	2: 76,577,081	H486D	probably benign	Het
Pfkfb3	T	C	2: 11,484,333	K264E	probably benign	Het
Pla2r1	T	A	2: 60,422,776	T1324S	possibly damaging	Het
Plekhg1	A	T	10: 3,947,523	Y495F		Het
Ppp2r5d	T	C	17: 46,687,063	K225E	probably benign	Het
Ptpn11	T	C	5: 121,167,990	D64G	possibly damaging	Het
Ptprs	A	G	17: 56,435,849	I431T	probably damaging	Het
Rapgef5	T	C	12: 117,581,812	S100P	probably benign	Het
Rnf219	G	T	14: 104,480,233	R235S	probably damaging	Het
Shh	T	A	5: 28,458,060	H370L	probably benign	Het
Siah3	A	T	14: 75,525,603	H98L	possibly damaging	Het
Sim2	C	T	16: 94,123,333	H446Y	probably benign	Het
Skint4	T	C	4: 112,136,040	I320T	possibly damaging	Het
Sorcs1	A	T	19: 50,378,960	N221K	probably damaging	Het
Sox6	T	C	7: 115,476,956	S816G	probably damaging	Het
Sphkap	T	C	1: 83,279,276	T251A	probably benign	Het
Stard9	T	C	2: 120,703,315	V3351A	possibly damaging	Het
Tbc1d15	A	G	10: 115,210,290	V436A	probably benign	Het
Thsd7b	A	T	1: 129,760,274	K641*	probably null	Het
Tmc5	G	T	7: 118,670,702	V892F	possibly damaging	Het
Tpsab1	T	A	17: 25,343,711	H238L	probably benign	Het
Trank1	A	G	9: 111,365,344	N812S	probably benign	Het
Trio	T	A	15: 27,905,192	N163Y	unknown	Het
Ttc39d	A	G	17: 80,217,264	T451A	probably benign	Het
Ube3b	T	C	5: 114,412,290	L832P	probably damaging	Het
Vmn2r15	C	A	5: 109,294,072	C165F	probably damaging	Het
Vmn2r90	T	C	17: 17,712,082	F84L	possibly damaging	Het
Wdr95	C	T	5: 149,595,287	T531I	possibly damaging	Het
Zcrb1	C	A	15: 93,386,237	G191V	probably benign	Het
Zfp111	G	A	7: 24,198,558	P544S	probably damaging	Het
Zfyve9	T	C	4: 108,719,342	S181G	probably benign	Het

Other mutations in Wdr60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Wdr60	APN	12	116241780	missense	probably benign	0.01
IGL00668:Wdr60	APN	12	116257428	missense	probably benign	0.32
IGL00914:Wdr60	APN	12	116232603	missense	probably damaging	1.00
IGL01061:Wdr60	APN	12	116229704	missense	probably benign	0.45
IGL01375:Wdr60	APN	12	116229676	missense	possibly damaging	0.91
IGL01758:Wdr60	APN	12	116218798	missense	possibly damaging	0.82
IGL01930:Wdr60	APN	12	116225963	critical splice donor site	probably null
IGL02028:Wdr60	APN	12	116256061	missense	probably benign	0.06
IGL03180:Wdr60	APN	12	116218865	missense	probably benign	0.07
F5770:Wdr60	UTSW	12	116211840	missense	possibly damaging	0.73
R0153:Wdr60	UTSW	12	116232636	missense	probably benign	0.01
R0265:Wdr60	UTSW	12	116257406	splice site	probably benign
R0364:Wdr60	UTSW	12	116257477	splice site	probably benign
R0601:Wdr60	UTSW	12	116255935	missense	possibly damaging	0.79
R0624:Wdr60	UTSW	12	116248290	missense	probably damaging	0.98
R0755:Wdr60	UTSW	12	116211792	missense	probably benign	0.01
R1023:Wdr60	UTSW	12	116232657	missense	probably damaging	1.00
R1065:Wdr60	UTSW	12	116256076	missense	probably damaging	0.98
R1543:Wdr60	UTSW	12	116231784	splice site	probably benign
R1663:Wdr60	UTSW	12	116229610	missense	probably benign	0.01
R1678:Wdr60	UTSW	12	116225970	missense	probably damaging	1.00
R1719:Wdr60	UTSW	12	116255912	missense	probably benign
R1755:Wdr60	UTSW	12	116226029	missense	probably damaging	0.98
R1832:Wdr60	UTSW	12	116207743	missense	probably damaging	0.99
R1918:Wdr60	UTSW	12	116232601	missense	probably damaging	0.96
R2291:Wdr60	UTSW	12	116229571	splice site	probably null
R2444:Wdr60	UTSW	12	116232669	missense	possibly damaging	0.93
R3419:Wdr60	UTSW	12	116224977	missense	probably benign	0.05
R3699:Wdr60	UTSW	12	116211842	nonsense	probably null
R3700:Wdr60	UTSW	12	116211842	nonsense	probably null
R4445:Wdr60	UTSW	12	116207715	missense	probably damaging	1.00
R4664:Wdr60	UTSW	12	116256211	missense	probably damaging	0.99
R4954:Wdr60	UTSW	12	116256025	missense	probably damaging	1.00
R5057:Wdr60	UTSW	12	116213413	missense	probably benign	0.43
R5163:Wdr60	UTSW	12	116255866	missense	possibly damaging	0.76
R5341:Wdr60	UTSW	12	116255914	missense	possibly damaging	0.51
R5560:Wdr60	UTSW	12	116218113	missense	probably damaging	0.98
R5870:Wdr60	UTSW	12	116256245	missense	possibly damaging	0.94
R5925:Wdr60	UTSW	12	116233394	missense	possibly damaging	0.82
R6223:Wdr60	UTSW	12	116257458	missense	possibly damaging	0.95
R6364:Wdr60	UTSW	12	116241732	missense	probably damaging	1.00
R6450:Wdr60	UTSW	12	116246727	nonsense	probably null
R6462:Wdr60	UTSW	12	116229631	missense	probably benign
R6751:Wdr60	UTSW	12	116213456	missense	possibly damaging	0.52
R6896:Wdr60	UTSW	12	116229671	missense	possibly damaging	0.52
R6962:Wdr60	UTSW	12	116211778	missense	probably damaging	1.00
R7033:Wdr60	UTSW	12	116211891	missense	probably benign	0.03
R7042:Wdr60	UTSW	12	116254441	missense	probably benign	0.02
R7254:Wdr60	UTSW	12	116262585	intron	probably benign
R7567:Wdr60	UTSW	12	116254510	splice site	probably null
R7889:Wdr60	UTSW	12	116255939	nonsense	probably null
R8082:Wdr60	UTSW	12	116213507	critical splice acceptor site	probably null
R8288:Wdr60	UTSW	12	116213725	missense	probably damaging	1.00
R8309:Wdr60	UTSW	12	116256085	missense	probably damaging	1.00
R8683:Wdr60	UTSW	12	116229642	missense	probably benign	0.03
R8699:Wdr60	UTSW	12	116207701	missense	probably benign	0.01
R8782:Wdr60	UTSW	12	116241712	missense	probably damaging	1.00
R8809:Wdr60	UTSW	12	116229614	missense	probably damaging	0.98
R9281:Wdr60	UTSW	12	116248057	nonsense	probably null
R9530:Wdr60	UTSW	12	116211791	missense	possibly damaging	0.87
R9751:Wdr60	UTSW	12	116241783	critical splice acceptor site	probably null
V7581:Wdr60	UTSW	12	116211840	missense	possibly damaging	0.73
V7582:Wdr60	UTSW	12	116211840	missense	possibly damaging	0.73
V7583:Wdr60	UTSW	12	116211840	missense	possibly damaging	0.73
X0063:Wdr60	UTSW	12	116255869	missense	probably benign
Z1177:Wdr60	UTSW	12	116246099	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGTCTGATCTCTTCCTCTGG -3'
(R):5'- AAACTCACACTTGGGCAGTTG -3'

Sequencing Primer
(F):5'- ATCTCTTCCTCTGGATAATCTGAATG -3'
(R):5'- TGTGTTCTACTTAATTGTATCCTGTG -3'

Posted On

2021-03-08