Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Wdr41'

472431

Institutional Source

Beutler Lab

Gene Symbol

Wdr41

Ensembl Gene

ENSMUSG00000042015

Gene Name

WD repeat domain 41

Synonyms

B830029I03Rik, MSTP048

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94976344-95023314 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 94997187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124033 (fasta)

Gene Model

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

AlphaFold

Q3UDP0

Predicted Effect

silent
Transcript: ENSMUST00000056512

SMART Domains

Protein: ENSMUSP00000055145
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
WD40	211	249	2.86e0	SMART
WD40	308	350	7.92e-3	SMART
WD40	394	432	1.67e-1	SMART

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000160409

SMART Domains

Protein: ENSMUSP00000138569
Gene: ENSMUSG00000042015

Domain	Start	End	E-Value	Type
internal_repeat_2	1	37	2.8e-14	PROSPERO
internal_repeat_1	2	42	7.42e-17	PROSPERO
internal_repeat_1	38	78	7.42e-17	PROSPERO
internal_repeat_2	43	79	2.8e-14	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000160801

SMART Domains

Protein: ENSMUSP00000124033
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
WD40	211	249	2.86e0	SMART
WD40	308	350	7.92e-3	SMART
WD40	394	432	1.67e-1	SMART

Predicted Effect

silent
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

noncoding transcript
Transcript: ENSMUST00000222948

Predicted Effect

silent
Transcript: ENSMUST00000222995

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fbxw13	C	T	9: 109,192,666		probably null	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm4846	T	C	1: 166,486,953	I374V	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Myh7	T	G	14: 54,989,078	N408T	probably damaging	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,039,848	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,344,342	V555A	probably benign	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Zyg11b	T	C	4: 108,245,013	K504E	probably damaging	Het

Other mutations in Wdr41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02096:Wdr41	APN	13	95017456	unclassified	probably benign
IGL02813:Wdr41	APN	13	94995245	splice site	probably null
gogi	UTSW	13	95015217	critical splice donor site	probably null
metallica	UTSW	13	95015174	nonsense	probably null
R0047:Wdr41	UTSW	13	95010287	missense	probably damaging	1.00
R0110:Wdr41	UTSW	13	95018111	unclassified	probably benign
R0243:Wdr41	UTSW	13	95017406	missense	probably damaging	1.00
R0537:Wdr41	UTSW	13	94995305	splice site	probably benign
R2025:Wdr41	UTSW	13	95018948	missense	probably damaging	1.00
R2116:Wdr41	UTSW	13	95015029	critical splice acceptor site	probably null
R3953:Wdr41	UTSW	13	94997063	missense	probably damaging	1.00
R4886:Wdr41	UTSW	13	95015174	nonsense	probably null
R5055:Wdr41	UTSW	13	95015217	critical splice donor site	probably null
R5266:Wdr41	UTSW	13	94995251	missense	probably damaging	1.00
R5276:Wdr41	UTSW	13	95017450	critical splice donor site	probably null
R5738:Wdr41	UTSW	13	94978488	missense	possibly damaging	0.55
R6682:Wdr41	UTSW	13	95013131	missense	probably damaging	1.00
R6815:Wdr41	UTSW	13	95018174	missense	probably damaging	1.00
R6817:Wdr41	UTSW	13	94997304	splice site	probably null
R7582:Wdr41	UTSW	13	95005767	missense	probably damaging	0.97
R7832:Wdr41	UTSW	13	95015193	missense	probably benign	0.06
R8003:Wdr41	UTSW	13	95013146	missense	possibly damaging	0.93
R8076:Wdr41	UTSW	13	95017330	missense	probably benign
R8796:Wdr41	UTSW	13	95015067	missense	possibly damaging	0.94
R8919:Wdr41	UTSW	13	95015112	missense	probably benign	0.00
R9715:Wdr41	UTSW	13	95008865	missense	probably damaging	1.00
R9723:Wdr41	UTSW	13	95015163	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAAGAGTCTTCATGTTGGAAAGG -3'
(R):5'- TTTTAAGCTCACGCACGTCCAC -3'

Sequencing Primer
(F):5'- GGAAAGGTTTGTTGACATTCCTACC -3'
(R):5'- GTTTGCCCAGCCTGACGTAAC -3'

Posted On

2017-04-03