Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Wdr95'

541877

Institutional Source

Beutler Lab

Gene Symbol

Wdr95

Ensembl Gene

ENSMUSG00000029658

Gene Name

WD40 repeat domain 95

Synonyms

4930434E21Rik

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149528679-149611894 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 149581850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 223 (C223W)

Ref Sequence

ENSEMBL: ENSMUSP00000106128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110502] [ENSMUST00000201525] [ENSMUST00000202902]

AlphaFold

D3Z7A8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110502
AA Change: C223W

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

SMART Domains

Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: C223W

Domain	Start	End	E-Value	Type
Pfam:WD40	4	28	3.3e-3	PFAM
WD40	32	71	4.38e-5	SMART
WD40	120	159	3.27e-4	SMART
WD40	162	203	1.71e-7	SMART
WD40	206	249	3.57e0	SMART
WD40	263	301	1.7e-2	SMART
Blast:WD40	315	363	3e-14	BLAST
Blast:WD40	367	408	4e-13	BLAST
WD40	421	460	2.01e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201525

SMART Domains

Protein: ENSMUSP00000144234
Gene: ENSMUSG00000029658

Domain	Start	End	E-Value	Type
WD40	104	143	2e-6	SMART
WD40	146	187	1.1e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202902
AA Change: C365W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: C365W

Domain	Start	End	E-Value	Type
Blast:WD40	44	83	9e-11	BLAST
WD40	132	170	1.61e-3	SMART
WD40	174	213	4.38e-5	SMART
WD40	262	301	3.27e-4	SMART
WD40	304	345	1.71e-7	SMART
WD40	348	391	3.57e0	SMART
WD40	405	443	1.7e-2	SMART
Blast:WD40	457	505	3e-14	BLAST
Blast:WD40	509	550	4e-13	BLAST
WD40	563	602	2.01e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	Het

Other mutations in Wdr95

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Wdr95	APN	5	149595244	critical splice acceptor site	probably benign	0.00
IGL02352:Wdr95	APN	5	149580619	missense	probably damaging	0.99
IGL02359:Wdr95	APN	5	149580619	missense	probably damaging	0.99
IGL02478:Wdr95	APN	5	149596321	missense	probably benign	0.02
IGL03078:Wdr95	APN	5	149611597	missense	possibly damaging	0.63
IGL03201:Wdr95	APN	5	149581887	splice site	probably null
P0037:Wdr95	UTSW	5	149588071	missense	probably benign	0.27
R0115:Wdr95	UTSW	5	149564390	missense	probably damaging	1.00
R0538:Wdr95	UTSW	5	149580806	missense	probably damaging	1.00
R0606:Wdr95	UTSW	5	149588130	missense	probably damaging	1.00
R0723:Wdr95	UTSW	5	149574048	missense	probably damaging	1.00
R1104:Wdr95	UTSW	5	149606337	missense	probably benign	0.00
R1233:Wdr95	UTSW	5	149581858	missense	possibly damaging	0.61
R1233:Wdr95	UTSW	5	149595364	missense	probably benign	0.00
R1344:Wdr95	UTSW	5	149588098	missense	probably damaging	1.00
R1513:Wdr95	UTSW	5	149599294	missense	probably benign	0.00
R1623:Wdr95	UTSW	5	149574116	missense	probably damaging	1.00
R1633:Wdr95	UTSW	5	149593172	missense	probably damaging	0.98
R1664:Wdr95	UTSW	5	149595287	missense	probably damaging	0.98
R1686:Wdr95	UTSW	5	149593101	missense	probably damaging	1.00
R1741:Wdr95	UTSW	5	149595396	splice site	probably null
R1750:Wdr95	UTSW	5	149581886	splice site	probably null
R1774:Wdr95	UTSW	5	149564392	nonsense	probably null
R1831:Wdr95	UTSW	5	149552426	missense	probably damaging	1.00
R1838:Wdr95	UTSW	5	149599366	missense	probably benign	0.00
R1907:Wdr95	UTSW	5	149552426	missense	probably damaging	1.00
R2019:Wdr95	UTSW	5	149574148	splice site	probably benign
R2063:Wdr95	UTSW	5	149579162	splice site	probably null
R2392:Wdr95	UTSW	5	149580670	missense	probably benign	0.03
R2863:Wdr95	UTSW	5	149581856	nonsense	probably null
R4116:Wdr95	UTSW	5	149597575	missense	probably benign	0.02
R4237:Wdr95	UTSW	5	149563337	nonsense	probably null
R4420:Wdr95	UTSW	5	149532666	missense	probably damaging	0.99
R4639:Wdr95	UTSW	5	149581814	splice site	probably benign
R4824:Wdr95	UTSW	5	149595332	missense	probably damaging	1.00
R4911:Wdr95	UTSW	5	149611692	nonsense	probably null
R5016:Wdr95	UTSW	5	149544801	missense	probably benign	0.00
R5458:Wdr95	UTSW	5	149564414	missense	probably damaging	1.00
R5486:Wdr95	UTSW	5	149596330	nonsense	probably null
R5613:Wdr95	UTSW	5	149584470	missense	probably damaging	1.00
R5906:Wdr95	UTSW	5	149564227	missense	possibly damaging	0.50
R5956:Wdr95	UTSW	5	149594482	missense	probably benign	0.00
R6309:Wdr95	UTSW	5	149580803	critical splice acceptor site	probably null
R6867:Wdr95	UTSW	5	149580923	splice site	probably null
R7008:Wdr95	UTSW	5	149611540	missense	probably benign	0.00
R7208:Wdr95	UTSW	5	149595371	missense	probably benign	0.02
R7309:Wdr95	UTSW	5	149606293	missense	probably benign	0.01
R7504:Wdr95	UTSW	5	149581846	missense	probably damaging	0.99
R7660:Wdr95	UTSW	5	149594480	missense	possibly damaging	0.86
R7997:Wdr95	UTSW	5	149579157	critical splice donor site	probably null
R8084:Wdr95	UTSW	5	149588133	missense	probably damaging	1.00
R8356:Wdr95	UTSW	5	149579107	missense	probably damaging	1.00
R8456:Wdr95	UTSW	5	149579107	missense	probably damaging	1.00
R8523:Wdr95	UTSW	5	149573996	missense	probably damaging	1.00
R8682:Wdr95	UTSW	5	149595287	missense	possibly damaging	0.94
R9451:Wdr95	UTSW	5	149580700	missense	probably benign	0.01
R9453:Wdr95	UTSW	5	149552452	missense	probably damaging	0.99
R9779:Wdr95	UTSW	5	149581828	missense	probably benign	0.01
X0024:Wdr95	UTSW	5	149588167	missense	possibly damaging	0.81
Z1176:Wdr95	UTSW	5	149566436	missense	probably benign	0.34
Z1177:Wdr95	UTSW	5	149544776	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGCCACAAAGGAATGGTGC -3'
(R):5'- TTGAAAGCTGTGTCCAGTCC -3'

Sequencing Primer
(F):5'- GCTTTAATGGCCCAGGCTACTAG -3'
(R):5'- CCAGTCCTTGGCTTTTGGGTC -3'

Posted On

2018-11-28