Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Wdr95'

560857

Institutional Source

Beutler Lab

Gene Symbol

Wdr95

Ensembl Gene

ENSMUSG00000029658

Gene Name

WD40 repeat domain 95

Synonyms

4930434E21Rik

MMRRC Submission

045285-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149452144-149535359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 149518836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 559 (T559I)

Ref Sequence

ENSEMBL: ENSMUSP00000144385 (fasta)

Gene Model

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

AlphaFold

D3Z7A8

Predicted Effect

probably benign
Transcript: ENSMUST00000110502
AA Change: T417I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: T417I

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 benign
Transcript: ENSMUST00000202902
AA Change: T559I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: T559I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,629 (GRCm39)	K854E	probably damaging	Het
Abcd2	G	T	15: 91,074,885 (GRCm39)	Y309*	probably null	Het
Ache	G	A	5: 137,289,751 (GRCm39)	G360D	probably damaging	Het
Acot12	T	C	13: 91,929,361 (GRCm39)	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303 (GRCm38)	D603A	probably benign	Het
Adam3	C	A	8: 25,201,417 (GRCm39)	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,758,081 (GRCm39)	I925T	probably benign	Het
Arhgap27	C	T	11: 103,251,585 (GRCm39)	V48M	probably damaging	Het
Atm	A	T	9: 53,423,308 (GRCm39)		probably null	Het
B4galt4	T	A	16: 38,574,302 (GRCm39)	F92Y	probably damaging	Het
Brwd1	C	T	16: 95,837,159 (GRCm39)	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612 (GRCm39)	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,420,698 (GRCm39)	R351G	probably damaging	Het
Ccdc80	T	G	16: 44,917,073 (GRCm39)	S610A	probably benign	Het
Cdh20	C	A	1: 104,881,796 (GRCm39)	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,255,383 (GRCm39)	R172*	probably null	Het
Ctnnd1	G	T	2: 84,452,390 (GRCm39)	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,814 (GRCm39)	L41H	probably damaging	Het
Dclk2	A	T	3: 86,706,909 (GRCm39)		probably null	Het
Dmwd	C	T	7: 18,814,234 (GRCm39)	H295Y	probably benign	Het
Dnai2	T	C	11: 114,647,988 (GRCm39)	V588A	unknown	Het
Dnai4	T	G	4: 102,923,549 (GRCm39)	I427L	probably benign	Het
Dtx4	C	T	19: 12,459,437 (GRCm39)		probably null	Het
Dync2h1	C	A	9: 7,141,059 (GRCm39)	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 27,803,446 (GRCm39)	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Gm9195	A	G	14: 72,689,192 (GRCm39)	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,980 (GRCm39)	K431T	probably damaging	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,439,948 (GRCm39)	N94S	probably benign	Het
Gvin2	A	C	7: 105,551,386 (GRCm39)	S555R	possibly damaging	Het
Hmgcs1	G	T	13: 120,162,620 (GRCm39)	G195W	probably damaging	Het
Hrc	A	T	7: 44,985,989 (GRCm39)	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 26,409,665 (GRCm39)	Q863*	probably null	Het
Lemd2	G	A	17: 27,415,165 (GRCm39)	P300L	probably damaging	Het
Lnpep	A	T	17: 17,773,172 (GRCm39)	Y665*	probably null	Het
Lrfn1	A	G	7: 28,166,564 (GRCm39)	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,286,387 (GRCm39)	T8A	unknown	Het
Mcm5	T	C	8: 75,848,344 (GRCm39)		probably null	Het
Med28	A	T	5: 45,680,794 (GRCm39)	D86V	probably damaging	Het
Mup11	A	G	4: 60,615,725 (GRCm39)	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,370,542 (GRCm39)	F383L	probably benign	Het
Nid1	G	C	13: 13,642,970 (GRCm39)	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892 (GRCm39)	V147A	probably benign	Het
Or12k8	A	G	2: 36,975,670 (GRCm39)	V30A	probably benign	Het
Pde9a	G	A	17: 31,639,258 (GRCm39)	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,411,826 (GRCm39)	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phf20l1	T	C	15: 66,476,638 (GRCm39)	I245T	probably benign	Het
Prmt8	C	T	6: 127,666,792 (GRCm39)	R394H	possibly damaging	Het
Prorp	A	G	12: 55,355,430 (GRCm39)		probably null	Het
Prpf4b	T	A	13: 35,067,994 (GRCm39)	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225 (GRCm38)		probably null	Het
Rgs16	T	C	1: 153,617,416 (GRCm39)	L69P	probably damaging	Het
Robo3	A	T	9: 37,336,020 (GRCm39)	I482N	probably damaging	Het
Scara3	C	T	14: 66,168,715 (GRCm39)	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,694,553 (GRCm39)	H397L	probably benign	Het
Skint11	T	A	4: 114,088,944 (GRCm39)	L246Q	probably damaging	Het
Skint5	T	A	4: 113,396,536 (GRCm39)	R1212S	unknown	Het
Slc11a2	T	C	15: 100,300,213 (GRCm39)	D348G	probably benign	Het
Slc15a2	T	C	16: 36,576,643 (GRCm39)	K495E	probably benign	Het
Son	T	G	16: 91,458,990 (GRCm39)	D2072E	unknown	Het
Stau1	A	G	2: 166,805,494 (GRCm39)	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,262 (GRCm39)	L153I	possibly damaging	Het
Swi5	A	T	2: 32,177,922 (GRCm39)	V13E	probably benign	Het
Syne2	A	T	12: 76,078,172 (GRCm39)		probably null	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tep1	T	A	14: 51,062,013 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,667,151 (GRCm39)	V149A	probably benign	Het
Tmem214	T	A	5: 31,028,065 (GRCm39)	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,778,114 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,525,071 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,038,948 (GRCm39)	I841T	probably damaging	Het
Wasf2	G	A	4: 132,923,045 (GRCm39)	V452I	probably damaging	Het
Wdr62	C	T	7: 29,951,761 (GRCm39)	D673N	probably damaging	Het
Zbtb40	A	T	4: 136,726,937 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,051,856 (GRCm39)	E646G	probably benign	Het

Other mutations in Wdr95

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Wdr95	APN	5	149,518,709 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL02352:Wdr95	APN	5	149,504,084 (GRCm39)	missense	probably damaging	0.99
IGL02359:Wdr95	APN	5	149,504,084 (GRCm39)	missense	probably damaging	0.99
IGL02478:Wdr95	APN	5	149,519,786 (GRCm39)	missense	probably benign	0.02
IGL03078:Wdr95	APN	5	149,535,062 (GRCm39)	missense	possibly damaging	0.63
IGL03201:Wdr95	APN	5	149,505,352 (GRCm39)	splice site	probably null
P0037:Wdr95	UTSW	5	149,511,536 (GRCm39)	missense	probably benign	0.27
R0115:Wdr95	UTSW	5	149,487,855 (GRCm39)	missense	probably damaging	1.00
R0538:Wdr95	UTSW	5	149,504,271 (GRCm39)	missense	probably damaging	1.00
R0606:Wdr95	UTSW	5	149,511,595 (GRCm39)	missense	probably damaging	1.00
R0723:Wdr95	UTSW	5	149,497,513 (GRCm39)	missense	probably damaging	1.00
R1104:Wdr95	UTSW	5	149,529,802 (GRCm39)	missense	probably benign	0.00
R1233:Wdr95	UTSW	5	149,518,829 (GRCm39)	missense	probably benign	0.00
R1233:Wdr95	UTSW	5	149,505,323 (GRCm39)	missense	possibly damaging	0.61
R1344:Wdr95	UTSW	5	149,511,563 (GRCm39)	missense	probably damaging	1.00
R1513:Wdr95	UTSW	5	149,522,759 (GRCm39)	missense	probably benign	0.00
R1623:Wdr95	UTSW	5	149,497,581 (GRCm39)	missense	probably damaging	1.00
R1633:Wdr95	UTSW	5	149,516,637 (GRCm39)	missense	probably damaging	0.98
R1664:Wdr95	UTSW	5	149,518,752 (GRCm39)	missense	probably damaging	0.98
R1686:Wdr95	UTSW	5	149,516,566 (GRCm39)	missense	probably damaging	1.00
R1741:Wdr95	UTSW	5	149,518,861 (GRCm39)	splice site	probably null
R1750:Wdr95	UTSW	5	149,505,351 (GRCm39)	splice site	probably null
R1774:Wdr95	UTSW	5	149,487,857 (GRCm39)	nonsense	probably null
R1831:Wdr95	UTSW	5	149,475,891 (GRCm39)	missense	probably damaging	1.00
R1838:Wdr95	UTSW	5	149,522,831 (GRCm39)	missense	probably benign	0.00
R1907:Wdr95	UTSW	5	149,475,891 (GRCm39)	missense	probably damaging	1.00
R2019:Wdr95	UTSW	5	149,497,613 (GRCm39)	splice site	probably benign
R2063:Wdr95	UTSW	5	149,502,627 (GRCm39)	splice site	probably null
R2392:Wdr95	UTSW	5	149,504,135 (GRCm39)	missense	probably benign	0.03
R2863:Wdr95	UTSW	5	149,505,321 (GRCm39)	nonsense	probably null
R4116:Wdr95	UTSW	5	149,521,040 (GRCm39)	missense	probably benign	0.02
R4237:Wdr95	UTSW	5	149,486,802 (GRCm39)	nonsense	probably null
R4420:Wdr95	UTSW	5	149,456,131 (GRCm39)	missense	probably damaging	0.99
R4639:Wdr95	UTSW	5	149,505,279 (GRCm39)	splice site	probably benign
R4824:Wdr95	UTSW	5	149,518,797 (GRCm39)	missense	probably damaging	1.00
R4911:Wdr95	UTSW	5	149,535,157 (GRCm39)	nonsense	probably null
R5016:Wdr95	UTSW	5	149,468,266 (GRCm39)	missense	probably benign	0.00
R5458:Wdr95	UTSW	5	149,487,879 (GRCm39)	missense	probably damaging	1.00
R5486:Wdr95	UTSW	5	149,519,795 (GRCm39)	nonsense	probably null
R5613:Wdr95	UTSW	5	149,507,935 (GRCm39)	missense	probably damaging	1.00
R5906:Wdr95	UTSW	5	149,487,692 (GRCm39)	missense	possibly damaging	0.50
R5956:Wdr95	UTSW	5	149,517,947 (GRCm39)	missense	probably benign	0.00
R6309:Wdr95	UTSW	5	149,504,268 (GRCm39)	critical splice acceptor site	probably null
R6867:Wdr95	UTSW	5	149,504,388 (GRCm39)	splice site	probably null
R6964:Wdr95	UTSW	5	149,505,315 (GRCm39)	missense	probably damaging	1.00
R7008:Wdr95	UTSW	5	149,535,005 (GRCm39)	missense	probably benign	0.00
R7309:Wdr95	UTSW	5	149,529,758 (GRCm39)	missense	probably benign	0.01
R7504:Wdr95	UTSW	5	149,505,311 (GRCm39)	missense	probably damaging	0.99
R7660:Wdr95	UTSW	5	149,517,945 (GRCm39)	missense	possibly damaging	0.86
R7997:Wdr95	UTSW	5	149,502,622 (GRCm39)	critical splice donor site	probably null
R8084:Wdr95	UTSW	5	149,511,598 (GRCm39)	missense	probably damaging	1.00
R8356:Wdr95	UTSW	5	149,502,572 (GRCm39)	missense	probably damaging	1.00
R8456:Wdr95	UTSW	5	149,502,572 (GRCm39)	missense	probably damaging	1.00
R8523:Wdr95	UTSW	5	149,497,461 (GRCm39)	missense	probably damaging	1.00
R8682:Wdr95	UTSW	5	149,518,752 (GRCm39)	missense	possibly damaging	0.94
R9451:Wdr95	UTSW	5	149,504,165 (GRCm39)	missense	probably benign	0.01
R9453:Wdr95	UTSW	5	149,475,917 (GRCm39)	missense	probably damaging	0.99
R9779:Wdr95	UTSW	5	149,505,293 (GRCm39)	missense	probably benign	0.01
X0024:Wdr95	UTSW	5	149,511,632 (GRCm39)	missense	possibly damaging	0.81
Z1176:Wdr95	UTSW	5	149,489,901 (GRCm39)	missense	probably benign	0.34
Z1177:Wdr95	UTSW	5	149,468,241 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATGTCTAAGTGACTGAAGTTGAG -3'
(R):5'- GCTGACACCAAATGTTTTCAGG -3'

Sequencing Primer
(F):5'- GGCTAGCCTTGAACTCATAGAGATC -3'
(R):5'- TCAGGAAAATATGTTTCTGCGATTC -3'

Posted On

2019-06-26