Mutagenetix > Incidental Mutation

Incidental Mutation 'R9077:Wdr76'

689835

Institutional Source

Beutler Lab

Gene Symbol

Wdr76

Ensembl Gene

ENSMUSG00000027242

Gene Name

WD repeat domain 76

Synonyms

5830411K18Rik

MMRRC Submission

068898-MU

Accession Numbers

Essential gene?

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

Stock #

R9077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121337204-121375341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121364608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 304 (N304S)

Ref Sequence

ENSEMBL: ENSMUSP00000028676 (fasta)

Gene Model

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

AlphaFold

A6PWY4

Predicted Effect

probably benign
Transcript: ENSMUST00000028676
AA Change: N304S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242
AA Change: N304S

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

probably benign
Transcript: ENSMUST00000110602
AA Change: N304S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242
AA Change: N304S

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: ENSMUST00000110603
AA Change: N402S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242
AA Change: N402S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Alkbh3	A	G	2: 93,811,925 (GRCm39)	V235A	probably damaging	Het
Arfgef2	A	G	2: 166,706,721 (GRCm39)	I982V	probably damaging	Het
Arfgef3	T	C	10: 18,500,899 (GRCm39)	D1117G	possibly damaging	Het
Arhgap31	G	T	16: 38,422,730 (GRCm39)	A1112D	probably damaging	Het
Arhgef4	T	C	1: 34,760,824 (GRCm39)	C27R	unknown	Het
Bzw1	T	A	1: 58,438,190 (GRCm39)	M90K	probably benign	Het
Cdk17	T	C	10: 93,068,277 (GRCm39)	Y345H	probably damaging	Het
Cip2a	A	G	16: 48,827,511 (GRCm39)	I459V	probably benign	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Ctsw	T	C	19: 5,516,431 (GRCm39)	D173G	probably benign	Het
Dnah6	A	T	6: 73,121,029 (GRCm39)	C1488*	probably null	Het
Dnah7a	T	C	1: 53,741,218 (GRCm39)	K13E	unknown	Het
Eif3f	A	G	7: 108,539,425 (GRCm39)	M232V	probably benign	Het
Gk5	C	A	9: 96,001,634 (GRCm39)	T44K	probably benign	Het
Glrb	A	G	3: 80,763,217 (GRCm39)	F260S	probably damaging	Het
Glyctk	C	A	9: 106,032,522 (GRCm39)	R497L	probably benign	Het
Gm10153	G	T	7: 141,743,383 (GRCm39)	C248*	probably null	Het
Hand2	A	G	8: 57,776,836 (GRCm39)	K199E	probably damaging	Het
Heatr1	T	A	13: 12,428,247 (GRCm39)	C795S	probably benign	Het
Il31ra	T	C	13: 112,670,361 (GRCm39)	I342M	probably benign	Het
Itm2b	G	T	14: 73,605,865 (GRCm39)	D40E	probably benign	Het
Ksr1	T	C	11: 78,927,552 (GRCm39)	T371A	probably damaging	Het
Lctl	C	A	9: 64,039,241 (GRCm39)		probably benign	Het
Lpin1	G	A	12: 16,591,747 (GRCm39)	P827S		Het
Lyst	T	C	13: 13,857,693 (GRCm39)	I2494T	probably benign	Het
Mia2	A	G	12: 59,226,760 (GRCm39)	N510S	possibly damaging	Het
Mycbp2	T	C	14: 103,469,974 (GRCm39)	D1308G	probably damaging	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Omt2b	T	C	9: 78,235,548 (GRCm39)		probably null	Het
Or2j6	G	A	7: 139,980,809 (GRCm39)	P50L	probably benign	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or56b1	A	G	7: 104,285,618 (GRCm39)	T246A	probably damaging	Het
Pan2	A	G	10: 128,148,856 (GRCm39)	Y490C	probably damaging	Het
Pard6g	A	G	18: 80,160,772 (GRCm39)	E295G	probably damaging	Het
Pcdhb8	T	C	18: 37,489,414 (GRCm39)	V23A	probably damaging	Het
Phactr3	A	T	2: 177,974,758 (GRCm39)		probably benign	Het
Pip	G	A	6: 41,828,388 (GRCm39)	S74N	probably damaging	Het
Plau	G	A	14: 20,889,949 (GRCm39)	E265K	probably benign	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Rcor3	C	T	1: 191,807,865 (GRCm39)	D230N	probably damaging	Het
Siglec15	A	G	18: 78,091,983 (GRCm39)	Y73H	possibly damaging	Het
Spag16	T	A	1: 70,532,930 (GRCm39)		probably benign	Het
Spta1	G	T	1: 174,045,170 (GRCm39)	D1506Y	probably damaging	Het
Tacr3	A	T	3: 134,635,711 (GRCm39)	Y305F	probably benign	Het
Tcstv7a	T	C	13: 120,289,885 (GRCm39)	M104V	probably benign	Het
Vmn1r83	G	A	7: 12,055,571 (GRCm39)	T162M	probably damaging	Het
Vmn2r116	G	T	17: 23,604,956 (GRCm39)	D90Y	probably benign	Het
Wee1	G	A	7: 109,725,963 (GRCm39)	V358I	probably damaging	Het
Zan	G	A	5: 137,401,468 (GRCm39)	P4084S	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGTCCTACTTTCCAGGTAG -3'
(R):5'- GCATACCTCAATCCTGCTGTG -3'

Sequencing Primer
(F):5'- ACCCTCTGCCATAGTAGGG -3'
(R):5'- CCTGCTGTGACAAAATACTGTCTGG -3'

Posted On

2021-11-19