Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03166:Wdr76'

411639

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr76

Ensembl Gene

ENSMUSG00000027242

Gene Name

WD repeat domain 76

Synonyms

5830411K18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL03166

Quality Score

Status

Chromosome

Chromosomal Location

121337204-121375341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121364787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 462 (V462F)

Ref Sequence

ENSEMBL: ENSMUSP00000106234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028676] [ENSMUST00000099473] [ENSMUST00000110602] [ENSMUST00000110603]

AlphaFold

A6PWY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028676
AA Change: V364F

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242
AA Change: V364F

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
low complexity region	93	109	N/A	INTRINSIC
low complexity region	137	154	N/A	INTRINSIC
WD40	205	244	8.59e-1	SMART
WD40	249	289	1.63e-4	SMART
WD40	292	331	1.98e1	SMART
WD40	336	375	4.75e1	SMART
WD40	383	423	9.24e-4	SMART
low complexity region	424	435	N/A	INTRINSIC
WD40	479	520	2.28e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099473

SMART Domains

Protein: ENSMUSP00000097072
Gene: ENSMUSG00000027242

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
low complexity region	109	125	N/A	INTRINSIC
low complexity region	153	170	N/A	INTRINSIC
WD40	221	260	8.59e-1	SMART
WD40	265	305	1.63e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110602
AA Change: V364F

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242
AA Change: V364F

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
low complexity region	93	109	N/A	INTRINSIC
low complexity region	137	154	N/A	INTRINSIC
WD40	205	244	8.59e-1	SMART
WD40	249	289	1.63e-4	SMART
WD40	292	331	1.98e1	SMART
WD40	336	375	4.75e1	SMART
WD40	383	423	9.24e-4	SMART
low complexity region	424	435	N/A	INTRINSIC
WD40	479	520	2.28e2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110603
AA Change: V462F

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242
AA Change: V462F

Domain	Start	End	E-Value	Type
low complexity region	56	94	N/A	INTRINSIC
low complexity region	97	114	N/A	INTRINSIC
low complexity region	138	147	N/A	INTRINSIC
low complexity region	191	207	N/A	INTRINSIC
low complexity region	235	252	N/A	INTRINSIC
WD40	303	342	8.59e-1	SMART
WD40	347	387	1.63e-4	SMART
WD40	390	429	1.98e1	SMART
WD40	434	473	4.75e1	SMART
WD40	481	521	9.24e-4	SMART
low complexity region	522	533	N/A	INTRINSIC
WD40	577	618	2.28e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132373

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Ankfn1	G	T	11: 89,429,264 (GRCm39)	A40D	probably benign	Het
Arhgap20	T	A	9: 51,761,077 (GRCm39)	I940K	possibly damaging	Het
Arhgap24	T	C	5: 103,023,552 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,172,308 (GRCm39)	T2103A	probably benign	Het
Cep350	A	G	1: 155,739,346 (GRCm39)	S2166P	possibly damaging	Het
Dlg2	T	C	7: 91,549,938 (GRCm39)		probably benign	Het
Fhip2b	A	T	14: 70,827,616 (GRCm39)	C160S	probably damaging	Het
Fyco1	A	T	9: 123,657,452 (GRCm39)	L908H	probably benign	Het
Gprc5b	C	A	7: 118,583,222 (GRCm39)	A216S	probably benign	Het
Lamc1	A	G	1: 153,208,047 (GRCm39)	V80A	probably benign	Het
Lilra6	T	C	7: 3,915,626 (GRCm39)	I370V	possibly damaging	Het
Lim2	T	A	7: 43,080,047 (GRCm39)	C11*	probably null	Het
Lrp1b	T	A	2: 41,001,050 (GRCm39)	H2058L	probably damaging	Het
Lrp3	G	T	7: 34,901,905 (GRCm39)	L659I	probably benign	Het
Lrrc8a	T	G	2: 30,145,377 (GRCm39)	S64A	probably benign	Het
Lsr	C	T	7: 30,661,522 (GRCm39)		probably null	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Man2c1	T	A	9: 57,046,382 (GRCm39)	V479E	probably damaging	Het
Mtf2	T	A	5: 108,254,586 (GRCm39)	D462E	probably benign	Het
Mx2	T	C	16: 97,347,990 (GRCm39)	I205T	probably damaging	Het
Nos1	T	A	5: 118,052,517 (GRCm39)		probably benign	Het
Optc	C	T	1: 133,831,530 (GRCm39)		probably benign	Het
Or51e2	T	C	7: 102,391,254 (GRCm39)	N319D	probably benign	Het
Orm1	C	A	4: 63,262,831 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,288,940 (GRCm39)	E820G	probably damaging	Het
Pkp1	A	T	1: 135,805,862 (GRCm39)	M612K	probably damaging	Het
Pno1	T	A	11: 17,154,513 (GRCm39)		probably null	Het
Rbm34	T	C	8: 127,697,606 (GRCm39)	Q35R	probably damaging	Het
Ryr3	A	T	2: 112,471,457 (GRCm39)	Y4564*	probably null	Het
Slc34a3	T	C	2: 25,122,186 (GRCm39)	I140V	probably damaging	Het
Slc43a1	T	C	2: 84,687,700 (GRCm39)	I419T	possibly damaging	Het
Sltm	C	A	9: 70,450,251 (GRCm39)	A17E	possibly damaging	Het
Smpdl3b	T	C	4: 132,468,842 (GRCm39)	D125G	probably benign	Het
Snorc	A	C	1: 87,402,933 (GRCm39)		probably benign	Het
Supt3	G	T	17: 45,234,106 (GRCm39)	A48S	probably damaging	Het
Tlr3	A	G	8: 45,855,965 (GRCm39)	F72L	probably benign	Het
Trim36	T	C	18: 46,345,388 (GRCm39)	E15G	probably benign	Het
Tubb4b-ps1	A	T	5: 7,229,965 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,871,331 (GRCm39)	T651A	probably benign	Het
Wnk2	C	A	13: 49,224,520 (GRCm39)	G1112*	probably null	Het
Zfp868	A	C	8: 70,064,965 (GRCm39)	C123W	probably damaging	Het
Zyg11b	T	A	4: 108,123,086 (GRCm39)	M294L	probably benign	Het

Other mutations in Wdr76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Wdr76	APN	2	121,365,978 (GRCm39)	missense	probably benign	0.11
IGL01930:Wdr76	APN	2	121,341,303 (GRCm39)	missense	possibly damaging	0.82
IGL03242:Wdr76	APN	2	121,372,951 (GRCm39)	missense	probably damaging	0.98
R0048:Wdr76	UTSW	2	121,365,900 (GRCm39)	splice site	probably benign
R0048:Wdr76	UTSW	2	121,365,900 (GRCm39)	splice site	probably benign
R0049:Wdr76	UTSW	2	121,349,932 (GRCm39)	missense	probably damaging	1.00
R1575:Wdr76	UTSW	2	121,359,402 (GRCm39)	missense	probably damaging	1.00
R4400:Wdr76	UTSW	2	121,359,314 (GRCm39)	missense	probably damaging	1.00
R4825:Wdr76	UTSW	2	121,372,975 (GRCm39)	missense	probably benign	0.25
R5622:Wdr76	UTSW	2	121,348,216 (GRCm39)	missense	probably damaging	1.00
R5895:Wdr76	UTSW	2	121,359,323 (GRCm39)	missense	probably damaging	1.00
R6349:Wdr76	UTSW	2	121,364,712 (GRCm39)	missense	possibly damaging	0.45
R7229:Wdr76	UTSW	2	121,359,401 (GRCm39)	missense	probably damaging	0.99
R8302:Wdr76	UTSW	2	121,341,044 (GRCm39)	missense	probably benign
R8439:Wdr76	UTSW	2	121,341,179 (GRCm39)	missense	possibly damaging	0.73
R8466:Wdr76	UTSW	2	121,341,038 (GRCm39)	missense	probably damaging	1.00
R8791:Wdr76	UTSW	2	121,357,484 (GRCm39)	missense	probably benign	0.06
R8952:Wdr76	UTSW	2	121,372,899 (GRCm39)	missense	probably benign	0.27
R8960:Wdr76	UTSW	2	121,341,104 (GRCm39)	missense	probably damaging	1.00
R9077:Wdr76	UTSW	2	121,364,608 (GRCm39)	missense	probably benign	0.00
R9135:Wdr76	UTSW	2	121,364,592 (GRCm39)	missense	probably damaging	0.98
R9511:Wdr76	UTSW	2	121,372,976 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02