Mutagenetix > Incidental Mutation

Incidental Mutation 'R8076:Wdr41'

629043

Institutional Source

Beutler Lab

Gene Symbol

Wdr41

Ensembl Gene

ENSMUSG00000042015

Gene Name

WD repeat domain 41

Synonyms

MSTP048, B830029I03Rik

MMRRC Submission

067510-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95112852-95159822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95153838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 296 (I296V)

Ref Sequence

ENSEMBL: ENSMUSP00000055145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056512] [ENSMUST00000159647] [ENSMUST00000160115] [ENSMUST00000160801] [ENSMUST00000167155] [ENSMUST00000222995]

AlphaFold

Q3UDP0

Predicted Effect

probably benign
Transcript: ENSMUST00000056512
AA Change: I296V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055145
Gene: ENSMUSG00000042015
AA Change: I296V

Domain	Start	End	E-Value	Type
WD40	32	70	4.48e-2	SMART
WD40	73	119	1.24e-4	SMART
WD40	122	159	1.28e1	SMART
WD40	211	249	2.86e0	SMART
WD40	308	350	7.92e-3	SMART
WD40	394	432	1.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159647

SMART Domains

Protein: ENSMUSP00000138501
Gene: ENSMUSG00000042015

Domain	Start	End	E-Value	Type
WD40	32	70	4.48e-2	SMART
WD40	73	119	1.24e-4	SMART
WD40	122	159	1.28e1	SMART
Blast:WD40	162	199	9e-6	BLAST
internal_repeat_1	233	260	6.23e-8	PROSPERO
internal_repeat_1	269	309	6.23e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000160115

SMART Domains

Protein: ENSMUSP00000138543
Gene: ENSMUSG00000042015

Domain	Start	End	E-Value	Type
WD40	32	70	4.48e-2	SMART
WD40	73	119	1.24e-4	SMART
WD40	122	159	1.28e1	SMART
Blast:WD40	162	199	1e-5	BLAST
internal_repeat_2	224	281	1.46e-11	PROSPERO
internal_repeat_1	233	315	2.35e-20	PROSPERO
internal_repeat_2	306	365	1.46e-11	PROSPERO
internal_repeat_1	353	435	2.35e-20	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000160801
AA Change: I296V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124033
Gene: ENSMUSG00000042015
AA Change: I296V

Domain	Start	End	E-Value	Type
WD40	32	70	4.48e-2	SMART
WD40	73	119	1.24e-4	SMART
WD40	122	159	1.28e1	SMART
WD40	211	249	2.86e0	SMART
WD40	308	350	7.92e-3	SMART
WD40	394	432	1.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167155

SMART Domains

Protein: ENSMUSP00000129595
Gene: ENSMUSG00000042015

Domain	Start	End	E-Value	Type
WD40	32	70	4.48e-2	SMART
WD40	73	119	1.24e-4	SMART
WD40	122	159	1.28e1	SMART
Blast:WD40	162	199	9e-6	BLAST
internal_repeat_1	233	260	6.23e-8	PROSPERO
internal_repeat_1	269	309	6.23e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000222995

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: This gene encodes a protein of unknown function, but which contains a WD40 domain consisting of six WD40 repeats. The WD40 domain is one of the most abundant protein domains in eukaryotes, and is found in proteins with widely varying cellular functions. However, proteins with this domain often provide a rigid scaffold for protein-protein interactions. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	T	A	8: 25,452,938 (GRCm39)	R790*	probably null	Het
Adamts13	C	A	2: 26,880,624 (GRCm39)	P736T	probably benign	Het
Aldh3b2	T	A	19: 4,028,859 (GRCm39)	F176L	possibly damaging	Het
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arid4b	A	T	13: 14,361,535 (GRCm39)	E753D	probably benign	Het
Cd160	T	A	3: 96,709,662 (GRCm39)	T158S	probably benign	Het
Cd209g	T	A	8: 4,185,195 (GRCm39)	M1K	probably null	Het
Chrm4	A	G	2: 91,758,204 (GRCm39)	Y204C	probably damaging	Het
Cyld	T	A	8: 89,456,346 (GRCm39)	N465K	probably benign	Het
Dchs1	A	T	7: 105,405,128 (GRCm39)	H2471Q	possibly damaging	Het
Dchs1	A	G	7: 105,411,189 (GRCm39)	V1612A	probably damaging	Het
Ddx24	A	G	12: 103,382,477 (GRCm39)	V702A	probably damaging	Het
Dnah8	A	G	17: 31,003,127 (GRCm39)	T3609A	possibly damaging	Het
Dock5	A	T	14: 68,040,426 (GRCm39)		probably null	Het
Dpy19l2	C	T	9: 24,591,988 (GRCm39)	R205H	probably damaging	Het
Eif3a	A	T	19: 60,762,363 (GRCm39)	D473E	probably damaging	Het
Elapor1	G	T	3: 108,399,398 (GRCm39)	T64K	probably benign	Het
Elobl	T	C	11: 88,855,796 (GRCm39)	E89G	possibly damaging	Het
Fam186a	A	T	15: 99,841,351 (GRCm39)	I1631N	possibly damaging	Het
Fbn2	C	T	18: 58,159,496 (GRCm39)	W2411*	probably null	Het
Fbxl17	A	G	17: 63,367,360 (GRCm39)	I671T	probably damaging	Het
Glul	C	T	1: 153,782,868 (GRCm39)	T193I	possibly damaging	Het
Grm7	A	G	6: 111,543,000 (GRCm39)	Y907C	probably damaging	Het
H4c16	A	G	6: 136,781,124 (GRCm39)	M85T	probably benign	Het
Hr	A	G	14: 70,795,381 (GRCm39)	T309A	probably benign	Het
Ighg3	A	G	12: 113,324,158 (GRCm39)	S110P	probably benign	Het
Llgl2	A	G	11: 115,737,755 (GRCm39)	E180G	possibly damaging	Het
Mat2b	A	T	11: 40,576,092 (GRCm39)	L112Q	probably damaging	Het
Mcoln2	T	C	3: 145,896,169 (GRCm39)	M497T	probably damaging	Het
Mmp24	C	A	2: 155,649,481 (GRCm39)	Y299*	probably null	Het
Mtor	T	C	4: 148,610,260 (GRCm39)		probably null	Het
Olig2	C	A	16: 91,023,299 (GRCm39)	D4E	probably damaging	Het
Or10ag2	A	T	2: 87,248,889 (GRCm39)	I164L	probably benign	Het
Pard3	T	C	8: 128,142,077 (GRCm39)	S878P	probably damaging	Het
Pcgf5	C	T	19: 36,417,483 (GRCm39)	P137L	probably damaging	Het
Pck1	A	G	2: 172,997,071 (GRCm39)	N238D	probably damaging	Het
Pstpip1	T	C	9: 56,035,064 (GRCm39)	S346P	probably benign	Het
Qsox2	G	A	2: 26,114,897 (GRCm39)	H40Y	possibly damaging	Het
Rbpj	T	C	5: 53,799,479 (GRCm39)	I129T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Saal1	G	A	7: 46,360,031 (GRCm39)	P9L	probably benign	Het
Sema3c	A	G	5: 17,932,362 (GRCm39)	I622V	probably benign	Het
Sigirr	C	T	7: 140,671,785 (GRCm39)	V333M	probably benign	Het
Sort1	T	C	3: 108,246,183 (GRCm39)	S387P	probably damaging	Het
Spata31h1	A	C	10: 82,132,520 (GRCm39)	Y163*	probably null	Het
Spta1	T	A	1: 174,014,797 (GRCm39)	S426T	probably benign	Het
Stag3	G	A	5: 138,281,404 (GRCm39)	S124N	probably damaging	Het
Stard10	A	G	7: 100,993,176 (GRCm39)	Y244C	probably damaging	Het
Tcea3	T	A	4: 135,995,440 (GRCm39)	I261N	probably damaging	Het
Tdrd1	A	G	19: 56,832,267 (GRCm39)	K395E	probably damaging	Het
Tenm2	T	A	11: 35,918,048 (GRCm39)	D1905V	probably benign	Het
Trim12c	T	C	7: 103,990,037 (GRCm39)	Y480C	unknown	Het
Trip11	A	G	12: 101,849,741 (GRCm39)	V1441A	probably damaging	Het
Ttc21a	G	A	9: 119,795,392 (GRCm39)	R1107Q	probably benign	Het
Zdbf2	T	A	1: 63,345,260 (GRCm39)	V1213E	possibly damaging	Het
Zfp37	T	C	4: 62,109,553 (GRCm39)	N545D	possibly damaging	Het

Other mutations in Wdr41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02096:Wdr41	APN	13	95,153,964 (GRCm39)	unclassified	probably benign
IGL02813:Wdr41	APN	13	95,131,753 (GRCm39)	splice site	probably null
gogi	UTSW	13	95,151,725 (GRCm39)	critical splice donor site	probably null
metallica	UTSW	13	95,151,682 (GRCm39)	nonsense	probably null
R0047:Wdr41	UTSW	13	95,146,795 (GRCm39)	missense	probably damaging	1.00
R0110:Wdr41	UTSW	13	95,154,619 (GRCm39)	unclassified	probably benign
R0243:Wdr41	UTSW	13	95,153,914 (GRCm39)	missense	probably damaging	1.00
R0537:Wdr41	UTSW	13	95,131,813 (GRCm39)	splice site	probably benign
R2025:Wdr41	UTSW	13	95,155,456 (GRCm39)	missense	probably damaging	1.00
R2116:Wdr41	UTSW	13	95,151,537 (GRCm39)	critical splice acceptor site	probably null
R3953:Wdr41	UTSW	13	95,133,571 (GRCm39)	missense	probably damaging	1.00
R4886:Wdr41	UTSW	13	95,151,682 (GRCm39)	nonsense	probably null
R5055:Wdr41	UTSW	13	95,151,725 (GRCm39)	critical splice donor site	probably null
R5266:Wdr41	UTSW	13	95,131,759 (GRCm39)	missense	probably damaging	1.00
R5276:Wdr41	UTSW	13	95,153,958 (GRCm39)	critical splice donor site	probably null
R5738:Wdr41	UTSW	13	95,114,996 (GRCm39)	missense	possibly damaging	0.55
R5957:Wdr41	UTSW	13	95,133,695 (GRCm39)	critical splice donor site	probably null
R6682:Wdr41	UTSW	13	95,149,639 (GRCm39)	missense	probably damaging	1.00
R6815:Wdr41	UTSW	13	95,154,682 (GRCm39)	missense	probably damaging	1.00
R6817:Wdr41	UTSW	13	95,133,812 (GRCm39)	splice site	probably null
R7582:Wdr41	UTSW	13	95,142,275 (GRCm39)	missense	probably damaging	0.97
R7832:Wdr41	UTSW	13	95,151,701 (GRCm39)	missense	probably benign	0.06
R8003:Wdr41	UTSW	13	95,149,654 (GRCm39)	missense	possibly damaging	0.93
R8796:Wdr41	UTSW	13	95,151,575 (GRCm39)	missense	possibly damaging	0.94
R8919:Wdr41	UTSW	13	95,151,620 (GRCm39)	missense	probably benign	0.00
R9715:Wdr41	UTSW	13	95,145,373 (GRCm39)	missense	probably damaging	1.00
R9723:Wdr41	UTSW	13	95,151,671 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAACCTTTCCTTGGTGGC -3'
(R):5'- AGACATGGGGCCAGATAATTTG -3'

Sequencing Primer
(F):5'- CTTTGACATTGGGAGCTTGAGAG -3'
(R):5'- GCCAGATAATTTGGCCACTG -3'

Posted On

2020-06-30