Mutagenetix > Incidental Mutation

Incidental Mutation 'R1233:Wdr95'

152347

Institutional Source

Beutler Lab

Gene Symbol

Wdr95

Ensembl Gene

ENSMUSG00000029658

Gene Name

WD40 repeat domain 95

Synonyms

4930434E21Rik

Accession Numbers

Essential gene?

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

Stock #

R1233 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

149452144-149535359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 149505323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 226 (T226I)

Ref Sequence

ENSEMBL: ENSMUSP00000106128 (fasta)

Gene Model

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

AlphaFold

D3Z7A8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110502
AA Change: T226I

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: T226I

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

possibly damaging
Transcript: ENSMUST00000121108
AA Change: T368I

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113092
Gene: ENSMUSG00000029658
AA Change: T368I

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

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

noncoding transcript
Transcript: ENSMUST00000202635

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202902
AA Change: T368I

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: T368I

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: 99.2%
3x: 98.3%
10x: 95.9%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,288,419 (GRCm39)		probably null	Het
Aopep	T	A	13: 63,347,334 (GRCm39)	M631K	probably damaging	Het
Arfgef1	T	C	1: 10,254,315 (GRCm39)	D773G	probably damaging	Het
Arhgap45	T	C	10: 79,863,416 (GRCm39)	I753T	probably damaging	Het
Cd274	T	A	19: 29,351,301 (GRCm39)		probably null	Het
Cdh16	C	T	8: 105,345,114 (GRCm39)	A392T	possibly damaging	Het
Csmd3	T	C	15: 48,536,927 (GRCm39)	T92A	probably damaging	Het
Exosc8	A	T	3: 54,639,419 (GRCm39)	C129S	probably benign	Het
Fat3	T	G	9: 15,834,041 (GRCm39)	I4184L	probably benign	Het
Frem2	A	G	3: 53,455,199 (GRCm39)	Y2126H	probably damaging	Het
Fsbp	T	C	4: 11,580,053 (GRCm39)	M107T	possibly damaging	Het
Gper1	A	G	5: 139,412,357 (GRCm39)	Y234C	probably damaging	Het
Hmcn1	T	C	1: 150,624,777 (GRCm39)	S1043G	probably benign	Het
Kif2a	T	A	13: 107,123,840 (GRCm39)	K137N	probably damaging	Het
Mrc2	T	C	11: 105,239,241 (GRCm39)	F1332S	probably damaging	Het
Nme8	T	A	13: 19,844,682 (GRCm39)	M375L	possibly damaging	Het
Or1e32	T	A	11: 73,705,176 (GRCm39)	H244L	probably damaging	Het
Per1	T	C	11: 68,993,037 (GRCm39)	L298P	probably damaging	Het
Polr2b	A	G	5: 77,482,412 (GRCm39)	N650S	probably benign	Het
Ppara	T	C	15: 85,682,222 (GRCm39)	V306A	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Repin1	A	G	6: 48,574,768 (GRCm39)	T566A	possibly damaging	Het
Rhot2	T	A	17: 26,063,071 (GRCm39)	D57V	probably damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Slc5a8	C	A	10: 88,754,304 (GRCm39)	P435H	probably damaging	Het
Stpg1	G	A	4: 135,252,740 (GRCm39)	A164T	probably benign	Het
Tll2	G	T	19: 41,084,423 (GRCm39)	A668D	possibly damaging	Het
Txnl1	T	A	18: 63,808,539 (GRCm39)	M180L	probably benign	Het
Vopp1	A	C	6: 57,766,980 (GRCm39)	L32R	probably damaging	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
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
R7208:Wdr95	UTSW	5	149,518,836 (GRCm39)	missense	probably benign	0.02
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'- TGGTGCTTTAATGGCCCAGGCTAC -3'
(R):5'- GCCTTTGAAAGCTGTGTCCAGTCC -3'

Sequencing Primer
(F):5'- TTTAATGGCCCAGGCTACTAGAAAG -3'
(R):5'- ctctcctctgccattgcc -3'

Posted On

2014-01-29