Mutagenetix > Incidental Mutation

Incidental Mutation 'R4886:Wdr41'

375760

Institutional Source

Beutler Lab

Gene Symbol

Wdr41

Ensembl Gene

ENSMUSG00000042015

Gene Name

WD repeat domain 41

Synonyms

MSTP048, B830029I03Rik

MMRRC Submission

042492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95112852-95159822 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 95151682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 281 (Q281*)

Ref Sequence

ENSEMBL: ENSMUSP00000124033 (fasta)

Gene Model

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

AlphaFold

Q3UDP0

Predicted Effect

probably null
Transcript: ENSMUST00000056512
AA Change: Q281*

SMART Domains

Protein: ENSMUSP00000055145
Gene: ENSMUSG00000042015
AA Change: Q281*

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
AA Change: 468

SMART Domains

Protein: ENSMUSP00000138543
Gene: ENSMUSG00000042015
AA Change: 468

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
AA Change: Q281*

SMART Domains

Protein: ENSMUSP00000124033
Gene: ENSMUSG00000042015
AA Change: Q281*

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

noncoding transcript
Transcript: ENSMUST00000222948

Predicted Effect

probably benign
Transcript: ENSMUST00000222995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223422

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	T	2: 32,464,630 (GRCm39)		probably benign	Het
Aagab	G	C	9: 63,543,738 (GRCm39)	A231P	possibly damaging	Het
Adgra3	C	T	5: 50,156,537 (GRCm39)	D398N	probably benign	Het
Ap3b1	A	T	13: 94,609,313 (GRCm39)	D616V	possibly damaging	Het
Apc2	T	A	10: 80,150,047 (GRCm39)	H1700Q	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cdk6	G	T	5: 3,394,444 (GRCm39)	K26N	possibly damaging	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Col6a4	A	G	9: 105,937,271 (GRCm39)	I1415T	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cpz	T	C	5: 35,664,048 (GRCm39)	N496D	probably damaging	Het
Cyp3a59	A	G	5: 146,024,197 (GRCm39)	D61G	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Dbn1	A	T	13: 55,625,355 (GRCm39)		probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhrs7c	G	A	11: 67,700,620 (GRCm39)	V56M	probably damaging	Het
Dnhd1	T	A	7: 105,364,015 (GRCm39)	H4122Q	probably benign	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Glt8d2	T	C	10: 82,487,874 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hcar2	G	A	5: 124,003,260 (GRCm39)	T81M	probably benign	Het
Herpud2	G	A	9: 25,036,285 (GRCm39)	P125L	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	T	C	19: 43,373,203 (GRCm39)	Y142C	probably damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,418 (GRCm39)	N405S	possibly damaging	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
L3mbtl3	T	A	10: 26,168,668 (GRCm39)	E587V	unknown	Het
Leap2	A	T	11: 53,313,653 (GRCm39)	F40I	probably damaging	Het
Leng8	T	A	7: 4,147,930 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Mansc1	T	C	6: 134,587,625 (GRCm39)	H184R	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Med23	T	C	10: 24,750,581 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Mrpl17	T	C	7: 105,459,260 (GRCm39)	N112S	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp14	A	T	7: 106,781,862 (GRCm39)	H353L	probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nphp3	T	C	9: 103,880,193 (GRCm39)	S72P	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8g30	T	C	9: 39,230,881 (GRCm39)	T10A	probably benign	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prkar2a	G	A	9: 108,622,823 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Psg25	A	T	7: 18,258,838 (GRCm39)	D279E	probably benign	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Rnf168	C	A	16: 32,118,014 (GRCm39)	T525K	probably benign	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Sec63	T	A	10: 42,665,389 (GRCm39)	Y106*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,279,494 (GRCm39)	I91N	possibly damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
St8sia1	G	A	6: 142,859,860 (GRCm39)	L90F	probably damaging	Het
Thsd4	T	A	9: 59,896,313 (GRCm39)	Y657F	probably benign	Het
Thsd7a	A	T	6: 12,327,659 (GRCm39)	C1404*	probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trim3	T	A	7: 105,267,047 (GRCm39)	H444L	probably damaging	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vmn2r19	G	T	6: 123,286,800 (GRCm39)	K144N	probably benign	Het
Zfp938	T	A	10: 82,061,957 (GRCm39)	Q221L	probably benign	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
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
R8076:Wdr41	UTSW	13	95,153,838 (GRCm39)	missense	probably benign
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'- TGGTCTTCACATTGACACTCTAATC -3'
(R):5'- GGATCCTGTCCATTGAACTTCAG -3'

Sequencing Primer
(F):5'- AGTTCTAGCCTAGAGACCATGATTGG -3'
(R):5'- GTCCATTGAACTTCAGTTATAAGTGC -3'

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R48860088_PCR_F: 5’- TGGTCTTCACATTGACACTCTAATC-3’

R48860088_PCR_R: 5’- GGATCCTGTCCATTGAACTTCAG-3’

Sequencing Primers

R48860088_SEQ_F: 5’- AGTTCTAGCCTAGAGACCATGATTGG-3’ 

R48860088_SEQ_R: 5’- GTCCATTGAACTTCAGTTATAAGTGC-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 441 nucleotides is amplified (NCBI RefSeq: NC_000079, chromosome 13:95014918-95015358):

tggtcttcac attgacactc taatctttct gattagcttg tcaccttaac acatttttta

gttctagcct agagaccatg attggtaatg gagcatttgt gaacttttcc tagatacagg

tttcgtcact ggctcccacg ttggcgagct gctcatctgg gatgccctgg actggactgt

gcaggcctgt gagcgcacct tctggagccc gaccgcacag ctggatgccc agcaggaaat

aaagctcttc caaaaacaaa atgatatttc tattaatcat ttcacatgcg atgaagaggt

aggtagtata attgttgcaa ataaaattag tatctggtat ttaaagcctt ctatattaga

tataaaaagt tatgattctg ggttgttgag agggctcagt gtgcaaaagc acttataact

gaagttcaat ggacaggatc c

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = C>T).

Posted On

2016-03-17