Mutagenetix > Incidental Mutation

Incidental Mutation 'R6548:Wdr7'

521419

Institutional Source

Beutler Lab

Gene Symbol

Wdr7

Ensembl Gene

ENSMUSG00000040560

Gene Name

WD repeat domain 7

Synonyms

TGF-beta resistance associated gene, TRAG

MMRRC Submission

044673-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R6548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63841756-64122847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63911322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 905 (T905A)

Ref Sequence

ENSEMBL: ENSMUSP00000072509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072726]

AlphaFold

Q920I9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072726
AA Change: T905A

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072509
Gene: ENSMUSG00000040560
AA Change: T905A

Domain	Start	End	E-Value	Type
WD40	5	47	1.2e-2	SMART
WD40	53	95	3.71e-1	SMART
Blast:WD40	145	190	1e-18	BLAST
WD40	208	242	1.77e2	SMART
WD40	453	498	3.81e-5	SMART
WD40	501	546	4.26e1	SMART
WD40	549	588	1.63e-4	SMART
low complexity region	760	777	N/A	INTRINSIC
low complexity region	915	927	N/A	INTRINSIC
low complexity region	956	970	N/A	INTRINSIC
low complexity region	1020	1040	N/A	INTRINSIC
low complexity region	1181	1192	N/A	INTRINSIC
Blast:WD40	1341	1380	5e-20	BLAST
WD40	1382	1422	2.73e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

93% (38/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	C	10: 43,050,769 (GRCm39)	L21P	probably damaging	Het
Ank3	C	T	10: 69,728,240 (GRCm39)	A642V	probably damaging	Het
Bap1	A	G	14: 30,978,182 (GRCm39)	N349S	probably benign	Het
Brca1	G	T	11: 101,415,591 (GRCm39)	Q32K	probably damaging	Het
Ccdc39	A	T	3: 33,892,108 (GRCm39)	N121K	probably benign	Het
Champ1	A	T	8: 13,930,002 (GRCm39)	N720I	probably damaging	Het
Chd3	T	A	11: 69,252,886 (GRCm39)	R216*	probably null	Het
D630003M21Rik	A	G	2: 158,047,619 (GRCm39)		probably null	Het
Exoc2	A	T	13: 31,010,047 (GRCm39)	V804E	possibly damaging	Het
Fcgbp	A	G	7: 27,791,343 (GRCm39)	N868S	probably benign	Het
Gm10376	T	C	14: 42,873,025 (GRCm39)	M1V	probably null	Het
Gpc2	G	A	5: 138,275,533 (GRCm39)		probably null	Het
Gpr37	G	A	6: 25,688,812 (GRCm39)	T95I	probably benign	Het
Ints3	G	A	3: 90,299,431 (GRCm39)		probably benign	Het
Krt28	T	C	11: 99,257,839 (GRCm39)	E334G	probably damaging	Het
Lrrc75a	T	A	11: 62,496,921 (GRCm39)	T214S	probably damaging	Het
Lyar	A	G	5: 38,385,202 (GRCm39)	I81V	probably benign	Het
Mon2	A	T	10: 122,871,998 (GRCm39)	L342Q	probably damaging	Het
Mug2	C	T	6: 122,024,401 (GRCm39)	A491V	probably damaging	Het
Myh2	A	G	11: 67,077,438 (GRCm39)	T858A	probably benign	Het
Net1	C	T	13: 3,936,074 (GRCm39)		probably null	Het
Or52s1	T	A	7: 102,861,111 (GRCm39)	Y4N	probably benign	Het
Or5p76	T	C	7: 108,122,423 (GRCm39)	T245A	probably benign	Het
Platr25	A	T	13: 62,821,623 (GRCm39)	I110N	possibly damaging	Het
Plk5	T	A	10: 80,198,879 (GRCm39)	L412H	probably damaging	Het
Rasal1	A	T	5: 120,812,790 (GRCm39)	T605S	probably benign	Het
Ryr2	T	A	13: 11,683,707 (GRCm39)	D3119V	probably damaging	Het
Serpina1a	G	T	12: 103,820,017 (GRCm39)	H387N	probably benign	Het
Serpina1d	G	T	12: 103,733,811 (GRCm39)	N164K	probably damaging	Het
Smurf1	A	G	5: 144,836,307 (GRCm39)	Y69H	probably damaging	Het
Sod2	A	G	17: 13,227,250 (GRCm39)	K68R	probably benign	Het
Ssbp2	A	G	13: 91,687,470 (GRCm39)	N51S	possibly damaging	Het
Tcl1b1	A	G	12: 105,130,663 (GRCm39)	R49G	probably benign	Het
Tgfb1	A	G	7: 25,396,350 (GRCm39)	I214M	probably benign	Het
Tln1	A	G	4: 43,547,525 (GRCm39)	I812T	probably damaging	Het
Topaz1	T	A	9: 122,577,419 (GRCm39)	C110S	possibly damaging	Het
Ubap2l	A	G	3: 89,930,867 (GRCm39)	F393L	probably damaging	Het
Vmn1r62	G	A	7: 5,678,769 (GRCm39)	G150D	probably damaging	Het
Wdr24	C	A	17: 26,046,899 (GRCm39)	Q651K	probably damaging	Het
Zfyve26	A	G	12: 79,285,109 (GRCm39)	F2382S	probably damaging	Het

Other mutations in Wdr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Wdr7	APN	18	63,853,846 (GRCm39)	missense	possibly damaging	0.83
IGL00708:Wdr7	APN	18	63,911,104 (GRCm39)	missense	probably benign	0.42
IGL00813:Wdr7	APN	18	63,868,675 (GRCm39)	missense	possibly damaging	0.84
IGL00840:Wdr7	APN	18	64,060,398 (GRCm39)	missense	possibly damaging	0.80
IGL00904:Wdr7	APN	18	63,929,302 (GRCm39)	missense	probably benign	0.43
IGL00930:Wdr7	APN	18	63,873,315 (GRCm39)	nonsense	probably null
IGL01481:Wdr7	APN	18	63,872,250 (GRCm39)	missense	probably damaging	1.00
IGL02121:Wdr7	APN	18	63,910,616 (GRCm39)	nonsense	probably null
IGL02346:Wdr7	APN	18	63,998,407 (GRCm39)	missense	probably benign	0.09
IGL02454:Wdr7	APN	18	63,929,299 (GRCm39)	missense	probably benign	0.20
IGL02538:Wdr7	APN	18	63,929,306 (GRCm39)	missense	probably benign	0.01
IGL02870:Wdr7	APN	18	63,924,914 (GRCm39)	missense	probably benign
IGL03054:Wdr7	APN	18	63,958,192 (GRCm39)	splice site	probably benign
IGL03189:Wdr7	APN	18	63,893,672 (GRCm39)	missense	probably benign	0.17
R0014:Wdr7	UTSW	18	64,037,172 (GRCm39)	missense	probably benign	0.03
R0022:Wdr7	UTSW	18	63,910,705 (GRCm39)	missense	probably damaging	1.00
R0233:Wdr7	UTSW	18	64,037,172 (GRCm39)	missense	probably benign	0.03
R0432:Wdr7	UTSW	18	63,929,320 (GRCm39)	missense	probably damaging	0.96
R0496:Wdr7	UTSW	18	63,924,914 (GRCm39)	missense	probably benign
R0633:Wdr7	UTSW	18	63,998,371 (GRCm39)	missense	probably benign	0.00
R0931:Wdr7	UTSW	18	63,998,371 (GRCm39)	missense	probably benign	0.00
R1585:Wdr7	UTSW	18	64,057,989 (GRCm39)	missense	probably benign	0.03
R1651:Wdr7	UTSW	18	63,853,847 (GRCm39)	nonsense	probably null
R1804:Wdr7	UTSW	18	63,998,511 (GRCm39)	missense	probably damaging	1.00
R1874:Wdr7	UTSW	18	63,861,575 (GRCm39)	missense	probably benign	0.02
R1985:Wdr7	UTSW	18	63,893,654 (GRCm39)	frame shift	probably null
R2106:Wdr7	UTSW	18	63,911,109 (GRCm39)	missense	probably damaging	1.00
R2206:Wdr7	UTSW	18	63,910,678 (GRCm39)	missense	possibly damaging	0.95
R2207:Wdr7	UTSW	18	63,910,678 (GRCm39)	missense	possibly damaging	0.95
R2245:Wdr7	UTSW	18	64,057,980 (GRCm39)	missense	possibly damaging	0.60
R2407:Wdr7	UTSW	18	63,893,794 (GRCm39)	missense	probably benign
R3804:Wdr7	UTSW	18	63,853,907 (GRCm39)	missense	probably benign
R3880:Wdr7	UTSW	18	63,857,226 (GRCm39)	missense	possibly damaging	0.92
R4410:Wdr7	UTSW	18	63,911,320 (GRCm39)	missense	probably damaging	1.00
R4441:Wdr7	UTSW	18	63,888,281 (GRCm39)	missense	probably damaging	1.00
R4485:Wdr7	UTSW	18	63,910,621 (GRCm39)	missense	possibly damaging	0.89
R4606:Wdr7	UTSW	18	63,913,016 (GRCm39)	nonsense	probably null
R4607:Wdr7	UTSW	18	63,910,651 (GRCm39)	missense	probably benign	0.28
R4608:Wdr7	UTSW	18	63,910,651 (GRCm39)	missense	probably benign	0.28
R4711:Wdr7	UTSW	18	63,861,536 (GRCm39)	missense	probably benign
R4852:Wdr7	UTSW	18	63,911,020 (GRCm39)	missense	probably damaging	0.98
R5197:Wdr7	UTSW	18	63,871,937 (GRCm39)	missense	probably benign	0.02
R5213:Wdr7	UTSW	18	63,888,197 (GRCm39)	missense	probably damaging	1.00
R5280:Wdr7	UTSW	18	64,120,383 (GRCm39)	missense	probably benign	0.35
R5378:Wdr7	UTSW	18	63,958,310 (GRCm39)	critical splice donor site	probably null
R6076:Wdr7	UTSW	18	63,872,348 (GRCm39)	missense	probably damaging	1.00
R6083:Wdr7	UTSW	18	63,861,540 (GRCm39)	missense	probably damaging	1.00
R6168:Wdr7	UTSW	18	63,911,048 (GRCm39)	missense	probably damaging	0.98
R6234:Wdr7	UTSW	18	63,857,203 (GRCm39)	missense	probably damaging	1.00
R6295:Wdr7	UTSW	18	63,888,182 (GRCm39)	missense	probably damaging	1.00
R6566:Wdr7	UTSW	18	63,888,126 (GRCm39)	missense	possibly damaging	0.72
R6696:Wdr7	UTSW	18	63,872,401 (GRCm39)	missense	probably benign	0.07
R6937:Wdr7	UTSW	18	63,924,938 (GRCm39)	missense	probably benign
R6962:Wdr7	UTSW	18	63,998,359 (GRCm39)	missense	possibly damaging	0.74
R7162:Wdr7	UTSW	18	63,857,210 (GRCm39)	missense	possibly damaging	0.92
R7376:Wdr7	UTSW	18	63,910,691 (GRCm39)	missense	probably damaging	1.00
R7423:Wdr7	UTSW	18	63,910,451 (GRCm39)	splice site	probably null
R7781:Wdr7	UTSW	18	63,910,860 (GRCm39)	nonsense	probably null
R7851:Wdr7	UTSW	18	63,853,398 (GRCm39)	missense	probably benign	0.05
R7962:Wdr7	UTSW	18	64,037,157 (GRCm39)	missense	probably damaging	1.00
R8310:Wdr7	UTSW	18	63,868,756 (GRCm39)	missense	probably damaging	0.98
R8325:Wdr7	UTSW	18	63,911,535 (GRCm39)	splice site	probably null
R8520:Wdr7	UTSW	18	64,120,231 (GRCm39)	missense	probably benign	0.09
R8678:Wdr7	UTSW	18	63,910,768 (GRCm39)	missense	probably damaging	1.00
R8847:Wdr7	UTSW	18	63,872,293 (GRCm39)	missense	probably damaging	1.00
R9326:Wdr7	UTSW	18	63,872,260 (GRCm39)	missense	probably benign	0.14
R9443:Wdr7	UTSW	18	63,853,407 (GRCm39)	missense	probably damaging	1.00
R9487:Wdr7	UTSW	18	63,910,939 (GRCm39)	missense	possibly damaging	0.51
R9652:Wdr7	UTSW	18	63,860,826 (GRCm39)	missense	probably damaging	1.00
R9657:Wdr7	UTSW	18	64,057,918 (GRCm39)	missense	probably damaging	1.00
R9710:Wdr7	UTSW	18	63,927,317 (GRCm39)	missense	possibly damaging	0.76
R9784:Wdr7	UTSW	18	64,037,236 (GRCm39)	missense	probably damaging	1.00
R9790:Wdr7	UTSW	18	63,911,059 (GRCm39)	missense	probably damaging	1.00
R9791:Wdr7	UTSW	18	63,911,059 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCGGTTATAATCAGGCTGCTG -3'
(R):5'- TGACCAACTCCTACATTGTAAATCC -3'

Sequencing Primer
(F):5'- CTGCTGGAAAACTGCTGCATG -3'
(R):5'- AATGTCTGTTTTACAGTTGAAATGGG -3'

Posted On

2018-06-06