Mutagenetix > Incidental Mutation

Incidental Mutation 'R5320:Wdr75'

406023

Institutional Source

Beutler Lab

Gene Symbol

Wdr75

Ensembl Gene

ENSMUSG00000025995

Gene Name

WD repeat domain 75

Synonyms

1300003A18Rik, 2410118I19Rik

MMRRC Submission

042903-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R5320 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

45834326-45862779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45838211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 40 (V40A)

Ref Sequence

ENSEMBL: ENSMUSP00000117363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027139] [ENSMUST00000147308]

AlphaFold

Q3U821

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027139
AA Change: V40A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027139
Gene: ENSMUSG00000025995
AA Change: V40A

Domain	Start	End	E-Value	Type
WD40	4	42	3.82e1	SMART
WD40	45	85	1.25e-9	SMART
WD40	185	230	1.61e-3	SMART
WD40	239	275	4.44e0	SMART
WD40	278	317	7.67e0	SMART
low complexity region	405	417	N/A	INTRINSIC
WD40	431	473	7.67e0	SMART
WD40	486	524	3.08e0	SMART
WD40	527	568	3.96e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146602

Predicted Effect

probably damaging
Transcript: ENSMUST00000147308
AA Change: V40A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117363
Gene: ENSMUSG00000025995
AA Change: V40A

Domain	Start	End	E-Value	Type
WD40	4	42	3.82e1	SMART
WD40	45	85	1.25e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154436

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,526,541 (GRCm39)	I581N	probably damaging	Het
Abcb10	A	G	8: 124,697,763 (GRCm39)	F187S	probably benign	Het
Actl11	T	A	9: 107,808,203 (GRCm39)	V842E	possibly damaging	Het
Akap12	A	G	10: 4,307,291 (GRCm39)	D1367G	probably benign	Het
Aoc1l1	T	A	6: 48,952,474 (GRCm39)	L133Q	probably damaging	Het
Aoc1l3	T	A	6: 48,964,509 (GRCm39)	F172L	probably benign	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,146,999 (GRCm39)	V258M	probably damaging	Het
Bptf	T	A	11: 106,972,193 (GRCm39)	K892*	probably null	Het
Cap2	A	G	13: 46,801,840 (GRCm39)	*422W	probably null	Het
Cars2	G	T	8: 11,567,854 (GRCm39)	H414N	probably benign	Het
Ccnt1	A	C	15: 98,442,124 (GRCm39)	S381R	probably benign	Het
Cdyl2	A	T	8: 117,321,794 (GRCm39)	C244*	probably null	Het
Cers2	A	G	3: 95,228,305 (GRCm39)	E115G	probably null	Het
Cpt1b	G	A	15: 89,303,477 (GRCm39)	P553S	probably benign	Het
Cuedc1	A	G	11: 88,068,136 (GRCm39)	E128G	probably damaging	Het
Dll4	T	A	2: 119,156,968 (GRCm39)	V80D	probably damaging	Het
Dop1b	T	C	16: 93,536,874 (GRCm39)	L113P	probably damaging	Het
Fam98a	A	G	17: 75,845,810 (GRCm39)	I312T	probably damaging	Het
Gnrhr	T	G	5: 86,345,473 (GRCm39)	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,445,032 (GRCm39)	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,795,212 (GRCm39)	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,313,115 (GRCm39)	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,153,810 (GRCm39)	I687N	probably damaging	Het
Krt18	A	T	15: 101,936,955 (GRCm39)	D81V	probably damaging	Het
Lama3	A	C	18: 12,685,912 (GRCm39)	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,766,727 (GRCm39)	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,967,677 (GRCm39)	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,412,738 (GRCm39)	I1895F	unknown	Het
Myh8	G	A	11: 67,177,089 (GRCm39)	V414I	probably damaging	Het
Myo1d	A	T	11: 80,575,149 (GRCm39)		probably null	Het
Nav2	A	T	7: 49,141,121 (GRCm39)	M889L	probably benign	Het
Oc90	C	T	15: 65,754,457 (GRCm39)	G236D	probably benign	Het
Or13a27	A	G	7: 139,925,548 (GRCm39)	V118A	probably benign	Het
Pak4	A	G	7: 28,267,631 (GRCm39)	I11T	probably damaging	Het
Papss2	T	C	19: 32,615,787 (GRCm39)	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,320,988 (GRCm39)	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,128,064 (GRCm39)	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,094,696 (GRCm39)	I174F	possibly damaging	Het
Pom121l2	G	A	13: 22,166,015 (GRCm39)	W95*	probably null	Het
Prcp	A	T	7: 92,577,843 (GRCm39)	T336S	probably benign	Het
Prdm11	A	C	2: 92,843,226 (GRCm39)	S78A	probably benign	Het
Ralgds	T	C	2: 28,435,224 (GRCm39)	I405T	probably damaging	Het
Rasgrf1	A	G	9: 89,902,478 (GRCm39)	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,458,864 (GRCm39)		probably null	Het
Rb1	A	T	14: 73,450,566 (GRCm39)	Y599*	probably null	Het
Rnf141	A	T	7: 110,433,010 (GRCm39)	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,023,698 (GRCm39)	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,477,175 (GRCm39)	V736I	probably damaging	Het
Sim2	A	T	16: 93,905,598 (GRCm39)	T141S	probably benign	Het
Slc6a15	G	T	10: 103,244,067 (GRCm39)	V436L	probably damaging	Het
Smarca2	T	C	19: 26,668,772 (GRCm39)	S924P	probably damaging	Het
Tacc1	T	C	8: 25,671,881 (GRCm39)	E449G	probably benign	Het
Tlr3	A	T	8: 45,852,137 (GRCm39)	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,456,500 (GRCm39)	A82T	probably benign	Het
Tom1l2	A	T	11: 60,133,648 (GRCm39)	L54*	probably null	Het
Trav12-2	A	G	14: 53,854,356 (GRCm39)	Y110C	probably benign	Het
Trdn	T	A	10: 33,209,247 (GRCm39)		probably null	Het
Trim36	G	T	18: 46,300,565 (GRCm39)	P690Q	probably damaging	Het
Trpc4	A	T	3: 54,206,599 (GRCm39)	M600L	probably damaging	Het
Trpm2	T	A	10: 77,759,355 (GRCm39)	Q1143L	probably benign	Het
Usp34	T	A	11: 23,283,739 (GRCm39)	D144E	probably benign	Het
Vps18	A	T	2: 119,127,858 (GRCm39)	R894*	probably null	Het
Vwa1	A	G	4: 155,855,369 (GRCm39)	V248A	probably benign	Het

Other mutations in Wdr75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Wdr75	APN	1	45,841,235 (GRCm39)	missense	probably benign	0.02
IGL00711:Wdr75	APN	1	45,862,541 (GRCm39)	missense	probably benign	0.00
IGL01350:Wdr75	APN	1	45,857,420 (GRCm39)	nonsense	probably null
IGL02135:Wdr75	APN	1	45,856,608 (GRCm39)	splice site	probably null
IGL02135:Wdr75	APN	1	45,853,723 (GRCm39)	missense	probably damaging	1.00
BB008:Wdr75	UTSW	1	45,858,795 (GRCm39)	missense	probably benign	0.00
BB018:Wdr75	UTSW	1	45,858,795 (GRCm39)	missense	probably benign	0.00
FR4976:Wdr75	UTSW	1	45,862,564 (GRCm39)	utr 3 prime	probably benign
PIT4378001:Wdr75	UTSW	1	45,859,333 (GRCm39)	missense	probably damaging	0.98
R0060:Wdr75	UTSW	1	45,855,777 (GRCm39)	missense	probably benign	0.16
R0463:Wdr75	UTSW	1	45,858,762 (GRCm39)	missense	probably damaging	1.00
R0963:Wdr75	UTSW	1	45,856,470 (GRCm39)	missense	probably benign	0.07
R1364:Wdr75	UTSW	1	45,838,222 (GRCm39)	missense	probably benign	0.01
R1382:Wdr75	UTSW	1	45,856,471 (GRCm39)	missense	probably damaging	1.00
R1562:Wdr75	UTSW	1	45,843,030 (GRCm39)	splice site	probably null
R1909:Wdr75	UTSW	1	45,862,563 (GRCm39)	missense	probably benign	0.00
R2968:Wdr75	UTSW	1	45,856,501 (GRCm39)	missense	probably damaging	1.00
R3972:Wdr75	UTSW	1	45,861,714 (GRCm39)	missense	probably benign	0.01
R4372:Wdr75	UTSW	1	45,845,833 (GRCm39)	unclassified	probably benign
R4720:Wdr75	UTSW	1	45,861,645 (GRCm39)	missense	probably benign	0.05
R4922:Wdr75	UTSW	1	45,855,638 (GRCm39)	missense	probably damaging	1.00
R5201:Wdr75	UTSW	1	45,862,519 (GRCm39)	missense	probably benign	0.00
R5242:Wdr75	UTSW	1	45,856,487 (GRCm39)	nonsense	probably null
R5255:Wdr75	UTSW	1	45,838,277 (GRCm39)	missense	probably damaging	1.00
R5450:Wdr75	UTSW	1	45,851,324 (GRCm39)	missense	probably benign	0.26
R6072:Wdr75	UTSW	1	45,838,211 (GRCm39)	missense	probably damaging	0.96
R6147:Wdr75	UTSW	1	45,858,698 (GRCm39)	missense	probably benign	0.00
R6341:Wdr75	UTSW	1	45,841,291 (GRCm39)	critical splice donor site	probably null
R6629:Wdr75	UTSW	1	45,851,216 (GRCm39)	missense	probably damaging	1.00
R6646:Wdr75	UTSW	1	45,838,247 (GRCm39)	missense	probably damaging	1.00
R6722:Wdr75	UTSW	1	45,844,512 (GRCm39)	splice site	probably null
R6750:Wdr75	UTSW	1	45,856,539 (GRCm39)	missense	probably damaging	1.00
R6850:Wdr75	UTSW	1	45,853,758 (GRCm39)	missense	probably benign	0.00
R6851:Wdr75	UTSW	1	45,862,587 (GRCm39)	missense	probably benign
R7172:Wdr75	UTSW	1	45,838,294 (GRCm39)	missense	probably damaging	1.00
R7248:Wdr75	UTSW	1	45,856,560 (GRCm39)	missense	probably damaging	1.00
R7809:Wdr75	UTSW	1	45,862,596 (GRCm39)	missense	probably benign	0.00
R7931:Wdr75	UTSW	1	45,858,795 (GRCm39)	missense	probably benign	0.00
R7937:Wdr75	UTSW	1	45,858,799 (GRCm39)	missense	probably benign	0.17
R8171:Wdr75	UTSW	1	45,861,706 (GRCm39)	missense	probably benign	0.00
R8218:Wdr75	UTSW	1	45,857,342 (GRCm39)	missense	probably damaging	1.00
R8724:Wdr75	UTSW	1	45,856,560 (GRCm39)	missense	probably damaging	1.00
R8900:Wdr75	UTSW	1	45,838,287 (GRCm39)	missense	probably damaging	0.99
R9400:Wdr75	UTSW	1	45,843,064 (GRCm39)	missense	probably damaging	1.00
R9665:Wdr75	UTSW	1	45,843,013 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGTCTCATATCCTCATATGGTTGAC -3'
(R):5'- TAGGAGAACCTACAGATGGACCC -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- CACTCCAAATTTAACCCAATTGTTTC -3'

Posted On

2016-07-22