Mutagenetix > Incidental Mutation

Incidental Mutation 'R2025:Wdr41'

220506

Institutional Source

Beutler Lab

Gene Symbol

Wdr41

Ensembl Gene

ENSMUSG00000042015

Gene Name

WD repeat domain 41

Synonyms

B830029I03Rik, MSTP048

MMRRC Submission

040034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94976344-95023314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95018948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 404 (H404Y)

Ref Sequence

ENSEMBL: ENSMUSP00000124033 (fasta)

Gene Model

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

AlphaFold

Q3UDP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000056512
AA Change: H404Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000055145
Gene: ENSMUSG00000042015
AA Change: H404Y

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

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 damaging
Transcript: ENSMUST00000160801
AA Change: H404Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124033
Gene: ENSMUSG00000042015
AA Change: H404Y

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: ENSMUST00000223422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223486

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	T	C	2: 148,782,228	F41L	probably damaging	Het
Abcc4	T	C	14: 118,553,325	M757V	probably benign	Het
Acan	T	G	7: 79,101,222	S1914A	probably benign	Het
Axin2	T	A	11: 108,943,078	V617D	probably damaging	Het
Bhlhe22	A	G	3: 18,055,811	S342G	probably benign	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,746,173		probably null	Het
Ccdc34	A	G	2: 110,032,386	K179E	possibly damaging	Het
Clasp1	A	G	1: 118,504,899	T208A	probably damaging	Het
Crabp1	C	T	9: 54,768,468	R112*	probably null	Het
D130040H23Rik	A	G	8: 69,302,873	N310S	probably benign	Het
Dalrd3	T	C	9: 108,571,085	I278T	probably benign	Het
Dbp	C	A	7: 45,708,276	D89E	probably benign	Het
Dennd2c	A	G	3: 103,131,689	D51G	possibly damaging	Het
Dido1	A	T	2: 180,689,181	L158*	probably null	Het
Disp1	G	T	1: 183,088,203	F884L	probably damaging	Het
Dmrtb1	T	C	4: 107,683,585	D193G	probably damaging	Het
Dnah8	A	G	17: 30,731,159	D1984G	probably damaging	Het
Dpf2	T	C	19: 5,902,753	Y218C	possibly damaging	Het
Dsg4	C	T	18: 20,466,636	Q770*	probably null	Het
Efemp1	A	T	11: 28,914,696	Y250F	possibly damaging	Het
Erbin	A	T	13: 103,830,195	I1249N	probably benign	Het
F5	A	G	1: 164,209,475	K1928E	probably benign	Het
Fam160a2	A	G	7: 105,388,936	V260A	probably damaging	Het
Fam206a	T	A	4: 56,805,916	I138N	probably damaging	Het
Gdf11	T	A	10: 128,891,445	I81F	probably damaging	Het
Gm10518	T	A	1: 179,803,918		probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Grb10	G	C	11: 11,970,576	S14*	probably null	Het
Greb1l	A	T	18: 10,515,221	Y562F	possibly damaging	Het
Gtf2ird1	T	C	5: 134,363,934	E789G	probably damaging	Het
Hook3	T	C	8: 26,038,098	E588G	probably damaging	Het
Hpx	A	G	7: 105,595,104	S266P	probably damaging	Het
Hs6st3	A	G	14: 119,869,389	D403G	probably damaging	Het
Igf2bp1	A	G	11: 95,974,170	V151A	possibly damaging	Het
Itga11	C	T	9: 62,762,811	T739I	probably damaging	Het
Kalrn	T	C	16: 34,189,736	I702V	probably damaging	Het
Kif2b	C	T	11: 91,577,346	S37N	probably damaging	Het
Kng2	T	A	16: 23,000,575	D237V	probably benign	Het
Krtap27-1	C	A	16: 88,671,285	V124L	possibly damaging	Het
Lig4	A	T	8: 9,972,436	L448Q	probably damaging	Het
Macf1	C	T	4: 123,371,918	A4821T	probably damaging	Het
Msh5	T	A	17: 35,032,792	I431F	possibly damaging	Het
Ndufa10	A	G	1: 92,439,892	Y339H	probably damaging	Het
Nin	T	A	12: 70,030,008	Q1091L	probably damaging	Het
Nom1	A	C	5: 29,446,851	D729A	probably damaging	Het
Olfr671	C	A	7: 104,975,244	G247V	probably benign	Het
P2ry14	A	T	3: 59,115,445	V207E	probably damaging	Het
Pdss2	A	T	10: 43,393,875	N238I	possibly damaging	Het
Pkn1	A	G	8: 83,671,378	V795A	probably damaging	Het
Pla2g6	A	C	15: 79,286,764	L804R	probably damaging	Het
Poglut1	A	T	16: 38,537,905		probably null	Het
Prkcz	A	T	4: 155,289,710	V83D	probably damaging	Het
Prss50	T	C	9: 110,861,260	F157S	probably benign	Het
Psors1c2	A	G	17: 35,534,202		probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab7	G	A	6: 88,004,179	L174F	probably damaging	Het
Rapgef4	A	G	2: 72,242,739	T790A	probably benign	Het
Rb1cc1	G	T	1: 6,245,309	V503L	probably damaging	Het
Sbf1	T	A	15: 89,302,730	E815V	probably damaging	Het
Setd3	T	A	12: 108,160,267	E104V	probably damaging	Het
Slc39a5	A	T	10: 128,398,410	L208Q	probably damaging	Het
Slc39a5	G	T	10: 128,398,411	L208M	probably damaging	Het
Slc3a1	T	G	17: 85,032,845	Y232D	probably damaging	Het
Slc8a1	T	A	17: 81,649,112	S166C	probably damaging	Het
Stard9	T	A	2: 120,702,398	D3045E	probably benign	Het
Stk4	C	A	2: 164,096,831	D206E	probably damaging	Het
Syn3	T	C	10: 86,466,982	D103G	probably damaging	Het
Tbc1d30	T	A	10: 121,279,146	Y369F	probably benign	Het
Tenm2	G	T	11: 36,047,264	Y1527*	probably null	Het
Tfg	T	C	16: 56,705,625	K85R	possibly damaging	Het
Timp3	T	C	10: 86,300,885	L11P	probably damaging	Het
Tmem144	A	T	3: 79,827,711		probably null	Het
Tmtc4	T	C	14: 122,921,265	N682S	probably benign	Het
Tnks2	C	T	19: 36,866,066	L464F	probably damaging	Het
Trank1	T	C	9: 111,392,039	F2615L	probably benign	Het
Trio	T	C	15: 27,744,137	K2570E	probably damaging	Het
Trio	T	A	15: 27,773,927	D673V	probably damaging	Het
Ublcp1	A	T	11: 44,465,631	C87S	probably benign	Het
Unc13a	C	T	8: 71,639,768	E1386K	possibly damaging	Het
Zfp280b	T	C	10: 76,038,494	L69S	probably damaging	Het
Zfp346	T	C	13: 55,132,308	S282P	probably damaging	Het
Zfp579	C	A	7: 4,993,521	E464*	probably null	Het
Zfp78	T	A	7: 6,375,514		probably null	Het
Zswim9	T	C	7: 13,269,366	E186G	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
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
R5957:Wdr41	UTSW	13	94997187	critical splice donor site	probably null
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'- TCGACAAACCAAGTGTGAGAC -3'
(R):5'- CTGTCTCTATGAAGGATGGTCC -3'

Sequencing Primer
(F):5'- CCAAGTGTGAGACATGATTGTATTC -3'
(R):5'- GGATGGTCCTAACTGCTTGTACTATC -3'

Posted On

2014-08-25