Mutagenetix > Incidental Mutation

Incidental Mutation 'R9723:Wdr41'

730943

Institutional Source

Beutler Lab

Gene Symbol

Wdr41

Ensembl Gene

ENSMUSG00000042015

Gene Name

WD repeat domain 41

Synonyms

MSTP048, B830029I03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95112852-95159822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95151671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 277 (L277P)

Ref Sequence

ENSEMBL: ENSMUSP00000055145 (fasta)

Gene Model

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

AlphaFold

Q3UDP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000056512
AA Change: L277P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055145
Gene: ENSMUSG00000042015
AA Change: L277P

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 damaging
Transcript: ENSMUST00000160801
AA Change: L277P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124033
Gene: ENSMUSG00000042015
AA Change: L277P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	G	A	1: 75,156,366 (GRCm39)	R133W	probably benign	Het
Abcc3	T	A	11: 94,250,725 (GRCm39)	T877S	probably benign	Het
Alb	A	T	5: 90,611,962 (GRCm39)	K130N	probably damaging	Het
Alkbh8	G	A	9: 3,385,283 (GRCm39)	S560N	probably benign	Het
Angel2	T	G	1: 190,671,342 (GRCm39)	L234R	probably damaging	Het
Catip	C	T	1: 74,403,745 (GRCm39)	T154I	probably benign	Het
Ccdc163	C	T	4: 116,569,595 (GRCm39)	Q102*	probably null	Het
Cep250	A	G	2: 155,823,337 (GRCm39)	E997G	probably benign	Het
Ces2f	T	C	8: 105,677,463 (GRCm39)	I183T	possibly damaging	Het
Commd8	A	G	5: 72,318,309 (GRCm39)	V158A	possibly damaging	Het
Cyp2b9	C	T	7: 25,909,596 (GRCm39)	Q455*	probably null	Het
D5Ertd579e	G	T	5: 36,772,284 (GRCm39)	H704N	probably damaging	Het
Dnah1	T	C	14: 30,987,946 (GRCm39)	T3491A	probably damaging	Het
Dnai1	T	G	4: 41,603,302 (GRCm39)	F195C	possibly damaging	Het
Dock7	A	G	4: 98,908,270 (GRCm39)	V620A		Het
Dock7	A	T	4: 98,960,660 (GRCm39)	D289E		Het
Dpys	T	A	15: 39,691,509 (GRCm39)	E271V	probably damaging	Het
Elovl3	T	C	19: 46,123,155 (GRCm39)	Y244H	probably damaging	Het
Enam	G	A	5: 88,652,241 (GRCm39)	G1250E	probably damaging	Het
Espl1	C	T	15: 102,229,170 (GRCm39)	T1774M	probably benign	Het
Fasl	T	C	1: 161,615,535 (GRCm39)	K107R	probably benign	Het
Fbn1	A	T	2: 125,202,119 (GRCm39)	C1251*	probably null	Het
Fn1	G	T	1: 71,663,369 (GRCm39)	Q1040K	possibly damaging	Het
Frem3	C	T	8: 81,341,352 (GRCm39)	S1215L	probably benign	Het
G3bp2	A	T	5: 92,214,388 (GRCm39)	D135E	possibly damaging	Het
Gabpb1	C	T	2: 126,488,648 (GRCm39)	V240I	probably benign	Het
Galnt12	C	G	4: 47,119,541 (GRCm39)	Y452*	probably null	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Gm12258	C	T	11: 58,750,448 (GRCm39)	P541L	unknown	Het
Gm12789	T	A	4: 101,846,083 (GRCm39)	W115R	possibly damaging	Het
Gm8126	T	C	14: 43,119,141 (GRCm39)		probably null	Het
Gpr179	A	T	11: 97,225,546 (GRCm39)	L2203H	possibly damaging	Het
H1f6	A	G	13: 23,879,906 (GRCm39)	K20E	probably damaging	Het
Hapln3	A	T	7: 78,771,736 (GRCm39)	V51E	possibly damaging	Het
Ifit1	A	G	19: 34,626,257 (GRCm39)	*464W	probably null	Het
Il1r1	A	C	1: 40,332,721 (GRCm39)	I137L	probably benign	Het
Il1rap	T	A	16: 26,442,907 (GRCm39)	M1K	probably null	Het
Lgi2	A	G	5: 52,695,843 (GRCm39)	L372P	probably damaging	Het
Lrrc46	A	G	11: 96,925,773 (GRCm39)	S230P	possibly damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mapk8ip3	C	A	17: 25,132,585 (GRCm39)	W339L	possibly damaging	Het
Msln	A	T	17: 25,969,008 (GRCm39)	M459K	possibly damaging	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Ndst2	G	T	14: 20,775,512 (GRCm39)	D659E	probably benign	Het
Npat	T	A	9: 53,473,746 (GRCm39)	S513T	probably benign	Het
Npat	T	G	9: 53,481,861 (GRCm39)	L1190V	probably damaging	Het
Npc1	A	G	18: 12,343,649 (GRCm39)	I448T	probably benign	Het
Omd	T	C	13: 49,743,838 (GRCm39)	F296S	probably damaging	Het
Oprm1	A	G	10: 6,788,514 (GRCm39)	N423S	possibly damaging	Het
Oxtr	G	A	6: 112,466,304 (GRCm39)	T152I	probably benign	Het
Pak2	A	T	16: 31,852,650 (GRCm39)	V297E	probably damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pet100	G	A	8: 3,672,374 (GRCm39)	M20I	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Plekhn1	A	G	4: 156,306,875 (GRCm39)	S505P	probably benign	Het
Plin5	G	A	17: 56,423,290 (GRCm39)	A90V	probably damaging	Het
Poc5	A	G	13: 96,551,026 (GRCm39)	T526A	probably benign	Het
Potefam1	T	C	2: 111,058,700 (GRCm39)	H84R	probably damaging	Het
Pramel7	C	T	2: 87,320,019 (GRCm39)	V425I	possibly damaging	Het
Rad51d	A	T	11: 82,781,162 (GRCm39)		probably null	Het
Rbp3	T	C	14: 33,677,474 (GRCm39)	M474T	possibly damaging	Het
Rcan3	A	G	4: 135,152,680 (GRCm39)	S14P	probably benign	Het
Rps6ka4	A	T	19: 6,816,663 (GRCm39)	V140E	probably damaging	Het
Rsbn1l	G	A	5: 21,101,464 (GRCm39)	S692L	possibly damaging	Het
Sgk1	A	T	10: 21,872,239 (GRCm39)	I272F	probably damaging	Het
Skor1	A	G	9: 63,053,714 (GRCm39)	V85A	probably damaging	Het
Slc12a1	A	T	2: 125,059,827 (GRCm39)	D909V	probably damaging	Het
Slc25a18	C	A	6: 120,770,489 (GRCm39)	A283E	probably benign	Het
Slc41a1	T	C	1: 131,772,103 (GRCm39)	L411P	possibly damaging	Het
Spata13	T	C	14: 60,928,498 (GRCm39)	S19P	probably damaging	Het
Stab1	T	A	14: 30,885,848 (GRCm39)	H42L	probably benign	Het
Stag3	T	A	5: 138,298,103 (GRCm39)	D698E	probably benign	Het
Syngap1	G	A	17: 27,189,510 (GRCm39)	R1305H	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Trappc9	A	G	15: 72,461,963 (GRCm39)	Y1101H	possibly damaging	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Uhrf1	A	G	17: 56,625,061 (GRCm39)	K535E	probably damaging	Het
Usp14	G	T	18: 10,009,993 (GRCm39)	Q185K	probably damaging	Het
Usp32	A	T	11: 84,935,536 (GRCm39)	Y413*	probably null	Het
Uvssa	G	A	5: 33,547,382 (GRCm39)		probably null	Het
Vmn1r177	A	T	7: 23,565,774 (GRCm39)	L34Q	probably damaging	Het
Zc2hc1b	T	A	10: 13,044,497 (GRCm39)	L55F	probably damaging	Het
Zfp345	A	C	2: 150,314,189 (GRCm39)	Y449*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AAGTGAACTAGTCTCTTTCTGGTCTTC -3'
(R):5'- GGATCCTGTCCATTGAACTTCAG -3'

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

Posted On

2022-10-06