Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03242:Wdr76'

414900

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 #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

121337204-121375341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121372951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 593 (C593S)

Ref Sequence

ENSEMBL: ENSMUSP00000106234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028676] [ENSMUST00000110593] [ENSMUST00000110602] [ENSMUST00000110603] [ENSMUST00000138157]

AlphaFold

A6PWY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028676
AA Change: C495S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242
AA Change: C495S

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: ENSMUST00000110593

SMART Domains

Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238

Domain	Start	End	E-Value	Type
B41	2	202	4.13e-56	SMART
FERM_C	206	294	6.86e-24	SMART
FA	300	346	1.45e-13	SMART
low complexity region	444	466	N/A	INTRINSIC
low complexity region	489	504	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110602
AA Change: C495S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242
AA Change: C495S

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 damaging
Transcript: ENSMUST00000110603
AA Change: C593S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242
AA Change: C593S

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

probably benign
Transcript: ENSMUST00000133898

SMART Domains

Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238

Domain	Start	End	E-Value	Type
B41	1	129	8.68e-9	SMART
FERM_C	133	221	6.86e-24	SMART
FA	227	273	1.45e-13	SMART
low complexity region	371	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138157

SMART Domains

Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238

Domain	Start	End	E-Value	Type
B41	13	210	2.23e-61	SMART
FERM_C	214	302	6.86e-24	SMART
FA	308	354	1.45e-13	SMART
low complexity region	452	474	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,189 (GRCm39)	W221R	unknown	Het
Ank2	A	G	3: 126,722,454 (GRCm39)	F1000L	possibly damaging	Het
Aoc1l2	T	C	6: 48,909,479 (GRCm39)	F575L	possibly damaging	Het
Bahcc1	T	C	11: 120,159,126 (GRCm39)		probably benign	Het
BC024139	T	C	15: 76,004,520 (GRCm39)	M679V	probably benign	Het
Carmil2	A	G	8: 106,417,952 (GRCm39)		probably benign	Het
Catsperg2	A	G	7: 29,424,904 (GRCm39)		probably benign	Het
Chrnb4	A	T	9: 54,942,812 (GRCm39)	I154K	probably damaging	Het
Clec2e	A	C	6: 129,071,989 (GRCm39)	L130W	probably damaging	Het
Coro2b	G	T	9: 62,336,243 (GRCm39)	Y281*	probably null	Het
Dlk2	A	G	17: 46,613,903 (GRCm39)	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,659,882 (GRCm39)	F709I	probably benign	Het
Efcab3	A	C	11: 104,997,230 (GRCm39)	E140A	probably damaging	Het
Exoc1	T	C	5: 76,706,854 (GRCm39)	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,955,980 (GRCm39)	V75A	probably benign	Het
Glud1	T	C	14: 34,056,237 (GRCm39)	F304L	probably benign	Het
Gsr	T	A	8: 34,175,627 (GRCm39)	V291E	probably benign	Het
Itprid2	C	T	2: 79,473,815 (GRCm39)	R189*	probably null	Het
Kap	A	G	6: 133,828,763 (GRCm39)		probably benign	Het
Kmt2a	G	T	9: 44,759,689 (GRCm39)	T720N	probably damaging	Het
Lrrtm4	T	C	6: 79,999,071 (GRCm39)	I161T	probably benign	Het
Lyst	T	A	13: 13,831,466 (GRCm39)	L1630*	probably null	Het
Med13l	A	G	5: 118,885,510 (GRCm39)	S1488G	probably benign	Het
Mlxip	A	G	5: 123,578,124 (GRCm39)	K147E	probably damaging	Het
Nalcn	T	C	14: 123,558,899 (GRCm39)	E810G	possibly damaging	Het
Or2d4	A	G	7: 106,544,125 (GRCm39)	F28L	possibly damaging	Het
Or56a5	G	A	7: 104,793,473 (GRCm39)	S15F	probably benign	Het
Or5p54	T	C	7: 107,554,688 (GRCm39)	V280A	possibly damaging	Het
Pcare	A	G	17: 72,057,266 (GRCm39)	S804P	probably benign	Het
Piezo2	T	C	18: 63,144,609 (GRCm39)		probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,285,960 (GRCm39)	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,722,063 (GRCm39)	Q274*	probably null	Het
Stk36	T	C	1: 74,662,511 (GRCm39)	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,448,930 (GRCm39)	S690P	probably damaging	Het
Tg	C	A	15: 66,555,647 (GRCm39)	Q780K	probably damaging	Het
Top1	T	A	2: 160,557,653 (GRCm39)	H578Q	probably damaging	Het
Treh	A	G	9: 44,596,634 (GRCm39)	T463A	possibly damaging	Het
Treml1	G	A	17: 48,673,016 (GRCm39)		probably benign	Het
Trpm2	A	G	10: 77,753,568 (GRCm39)	V1312A	probably benign	Het
Ttc41	T	A	10: 86,612,683 (GRCm39)	*1319K	probably null	Het
Tulp2	A	G	7: 45,171,282 (GRCm39)	I354M	probably damaging	Het
Ugt2b35	T	C	5: 87,155,254 (GRCm39)	L363P	probably damaging	Het
Usp13	A	T	3: 32,956,218 (GRCm39)	M496L	probably benign	Het
Virma	T	C	4: 11,527,669 (GRCm39)	S1187P	possibly damaging	Het
Zfp446	G	A	7: 12,713,252 (GRCm39)	A97T	probably damaging	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
IGL03166:Wdr76	APN	2	121,364,787 (GRCm39)	missense	possibly damaging	0.76
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