Mutagenetix > Incidental Mutations

Incidental Mutation 'R6646:Wdr75'

527960

Institutional Source

Beutler Lab

Gene Symbol

Wdr75

Ensembl Gene

ENSMUSG00000025995

Gene Name

WD repeat domain 75

Synonyms

2410118I19Rik, 1300003A18Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R6646 (G1)

Quality Score

190.009

Status

Validated

Chromosome

Chromosomal Location

45795166-45823619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45799087 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 52 (L52Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117363 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027139
AA Change: L52Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027139
Gene: ENSMUSG00000025995
AA Change: L52Q

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: L52Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117363
Gene: ENSMUSG00000025995
AA Change: L52Q

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

Meta Mutation Damage Score

0.9260

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	A	10: 82,296,830	E115D	unknown	Het
Ada	G	T	2: 163,735,423	N48K	probably benign	Het
Aldh1a7	C	T	19: 20,699,911	A449T	possibly damaging	Het
Arhgef28	A	G	13: 97,939,494	V1344A	probably benign	Het
Carmil3	A	T	14: 55,507,930	E1371D	probably damaging	Het
Crebbp	C	T	16: 4,119,806	A698T	possibly damaging	Het
Dedd2	T	C	7: 25,203,613	D307G	probably damaging	Het
Dennd6b	G	T	15: 89,186,184	F427L	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Doc2a	G	A	7: 126,851,619		probably null	Het
Dst	A	G	1: 34,268,807	T6503A	possibly damaging	Het
Ehmt1	A	T	2: 24,806,310	I922K	probably damaging	Het
Gbp9	A	G	5: 105,082,903	I385T	probably benign	Het
Gipc2	A	T	3: 152,094,201	D297E	possibly damaging	Het
Krt6b	T	A	15: 101,677,214	Q428L	probably damaging	Het
Loxl4	T	C	19: 42,598,781	D625G	probably damaging	Het
Lrrn2	C	T	1: 132,939,056	P620S	probably benign	Het
Msh6	T	C	17: 87,986,442	V875A	possibly damaging	Het
Nebl	T	C	2: 17,376,685	T727A	probably damaging	Het
Obscn	T	C	11: 59,082,718	D1929G	possibly damaging	Het
Pard3b	T	C	1: 62,161,121	V273A	probably benign	Het
Pcdhb7	T	A	18: 37,343,974	V721E	possibly damaging	Het
Plaa	A	T	4: 94,589,978	H82Q	probably benign	Het
Plcd1	T	A	9: 119,075,032	Y278F	probably damaging	Het
Plxnb1	C	A	9: 109,108,827	H1214N	probably benign	Het
Ptprg	C	A	14: 11,962,714	P171T	probably damaging	Het
Rela	T	G	19: 5,647,104	D446E	probably damaging	Het
Rpap1	T	C	2: 119,780,131	I156V	probably benign	Het
Rpl15	T	C	14: 18,270,040	Y59C	probably damaging	Het
Scx	C	A	15: 76,457,921	T107N	probably damaging	Het
Skint5	T	A	4: 113,940,777	K203I	possibly damaging	Het
Slc16a6	C	T	11: 109,453,162	M518I	probably benign	Het
Sorbs1	C	T	19: 40,325,549	G940R	probably damaging	Het
Synm	A	T	7: 67,735,127	I487K	probably damaging	Het
Tcerg1l	A	T	7: 138,395,183		probably null	Het
Vmn2r99	T	G	17: 19,380,031	L439R	probably damaging	Het
Zswim2	T	A	2: 83,915,784	R437*	probably null	Het

Other mutations in Wdr75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Wdr75	APN	1	45802075	missense	probably benign	0.02
IGL00711:Wdr75	APN	1	45823381	missense	probably benign	0.00
IGL01350:Wdr75	APN	1	45818260	nonsense	probably null
IGL02135:Wdr75	APN	1	45814563	missense	probably damaging	1.00
IGL02135:Wdr75	APN	1	45817448	splice site	probably null
BB008:Wdr75	UTSW	1	45819635	missense	probably benign	0.00
BB018:Wdr75	UTSW	1	45819635	missense	probably benign	0.00
FR4976:Wdr75	UTSW	1	45823404	utr 3 prime	probably benign
PIT4378001:Wdr75	UTSW	1	45820173	missense	probably damaging	0.98
R0060:Wdr75	UTSW	1	45816617	missense	probably benign	0.16
R0463:Wdr75	UTSW	1	45819602	missense	probably damaging	1.00
R0963:Wdr75	UTSW	1	45817310	missense	probably benign	0.07
R1364:Wdr75	UTSW	1	45799062	missense	probably benign	0.01
R1382:Wdr75	UTSW	1	45817311	missense	probably damaging	1.00
R1562:Wdr75	UTSW	1	45803870	splice site	probably null
R1909:Wdr75	UTSW	1	45823403	missense	probably benign	0.00
R2968:Wdr75	UTSW	1	45817341	missense	probably damaging	1.00
R3972:Wdr75	UTSW	1	45822554	missense	probably benign	0.01
R4372:Wdr75	UTSW	1	45806673	unclassified	probably benign
R4720:Wdr75	UTSW	1	45822485	missense	probably benign	0.05
R4922:Wdr75	UTSW	1	45816478	missense	probably damaging	1.00
R5201:Wdr75	UTSW	1	45823359	missense	probably benign	0.00
R5242:Wdr75	UTSW	1	45817327	nonsense	probably null
R5255:Wdr75	UTSW	1	45799117	missense	probably damaging	1.00
R5320:Wdr75	UTSW	1	45799051	missense	probably damaging	0.96
R5450:Wdr75	UTSW	1	45812164	missense	probably benign	0.26
R6072:Wdr75	UTSW	1	45799051	missense	probably damaging	0.96
R6147:Wdr75	UTSW	1	45819538	missense	probably benign	0.00
R6341:Wdr75	UTSW	1	45802131	critical splice donor site	probably null
R6629:Wdr75	UTSW	1	45812056	missense	probably damaging	1.00
R6722:Wdr75	UTSW	1	45805352	splice site	probably null
R6750:Wdr75	UTSW	1	45817379	missense	probably damaging	1.00
R6850:Wdr75	UTSW	1	45814598	missense	probably benign	0.00
R6851:Wdr75	UTSW	1	45823427	missense	probably benign
R7172:Wdr75	UTSW	1	45799134	missense	probably damaging	1.00
R7248:Wdr75	UTSW	1	45817400	missense	probably damaging	1.00
R7809:Wdr75	UTSW	1	45823436	missense	probably benign	0.00
R7931:Wdr75	UTSW	1	45819635	missense	probably benign	0.00
R7937:Wdr75	UTSW	1	45819639	missense	probably benign	0.17
R8171:Wdr75	UTSW	1	45822546	missense	probably benign	0.00
R8218:Wdr75	UTSW	1	45818182	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2018-07-24