Mutagenetix > Incidental Mutation

Incidental Mutation 'R8436:Wdr20rt'

654012

Institutional Source

Beutler Lab

Gene Symbol

Wdr20rt

Ensembl Gene

ENSMUSG00000035560

Gene Name

WD repeat domain 20, retrogene

Synonyms

4921538B03Rik, Wdr20b, 4930427E19Rik

MMRRC Submission

067777-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.403) question?

Stock #

R8436 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65272291-65275228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65273035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 166 (L166Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046331] [ENSMUST00000221658] [ENSMUST00000221980] [ENSMUST00000222822]

AlphaFold

Q9D5R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000046331
AA Change: L166Q

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

SMART Domains

Protein: ENSMUSP00000036682
Gene: ENSMUSG00000035560
AA Change: L166Q

Domain	Start	End	E-Value	Type
WD40	140	178	1.33e1	SMART
WD40	205	246	1.38e-2	SMART
WD40	249	288	1.57e-6	SMART
WD40	291	380	8.29e-1	SMART
low complexity region	465	478	N/A	INTRINSIC
Blast:WD40	480	557	1e-29	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000221658
AA Change: L166Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221980

Predicted Effect

probably damaging
Transcript: ENSMUST00000222822
AA Change: L65Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,936 (GRCm39)	I1278V	possibly damaging	Het
Baz1b	A	G	5: 135,266,821 (GRCm39)	H1210R	probably damaging	Het
Cdt1	C	T	8: 123,296,070 (GRCm39)	S128L	probably benign	Het
Cfap54	A	T	10: 92,800,398 (GRCm39)	N1603K	unknown	Het
Cfap99	A	G	5: 34,469,026 (GRCm39)	N300S	possibly damaging	Het
Chrdl2	G	A	7: 99,676,940 (GRCm39)		probably null	Het
Cpb2	C	A	14: 75,510,015 (GRCm39)	F258L	probably damaging	Het
Csmd3	A	T	15: 47,868,218 (GRCm39)	D767E	probably damaging	Het
Dennd3	C	T	15: 73,434,198 (GRCm39)	T956I	probably damaging	Het
Emcn	A	G	3: 137,129,228 (GRCm39)	T245A	possibly damaging	Het
Gm4353	A	G	7: 115,682,864 (GRCm39)	V239A	probably damaging	Het
Gm4884	G	A	7: 40,692,810 (GRCm39)	A260T	probably damaging	Het
Hectd4	A	G	5: 121,446,421 (GRCm39)	D205G	possibly damaging	Het
Hectd4	A	G	5: 121,481,210 (GRCm39)	S3005G	probably benign	Het
Ifngr1	T	C	10: 19,479,553 (GRCm39)	L148P	probably damaging	Het
Irf2	C	T	8: 47,271,929 (GRCm39)	T172M	probably damaging	Het
Irs1	T	C	1: 82,267,970 (GRCm39)	H82R	possibly damaging	Het
Kcnc4	G	T	3: 107,366,084 (GRCm39)	N41K	probably damaging	Het
Lig3	C	T	11: 82,682,870 (GRCm39)	A490V	possibly damaging	Het
Megf6	G	A	4: 154,349,649 (GRCm39)	E946K	probably damaging	Het
Mpi	A	T	9: 57,452,200 (GRCm39)	Y359N	probably damaging	Het
Nf1	A	G	11: 79,349,709 (GRCm39)	S1365G	probably damaging	Het
P3h3	C	A	6: 124,828,041 (GRCm39)		probably null	Het
Pdk2	A	T	11: 94,930,259 (GRCm39)	V59D	probably damaging	Het
Ppip5k2	T	C	1: 97,683,613 (GRCm39)	K168R	probably benign	Het
Prg4	G	T	1: 150,331,318 (GRCm39)	P452T	unknown	Het
Prl2b1	T	C	13: 27,567,442 (GRCm39)	N234S	possibly damaging	Het
Rnd1	T	A	15: 98,574,455 (GRCm39)	T41S	possibly damaging	Het
Sall4	G	A	2: 168,597,830 (GRCm39)	P337S	probably damaging	Het
Slc1a2	G	A	2: 102,586,298 (GRCm39)	A301T	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Svep1	G	A	4: 58,044,053 (GRCm39)	T3531I	possibly damaging	Het
Sycp2	T	C	2: 178,004,761 (GRCm39)	D894G	probably benign	Het
Syne1	T	C	10: 5,178,659 (GRCm39)	N4605S	probably benign	Het
Syt4	A	C	18: 31,573,472 (GRCm39)	C348G	possibly damaging	Het
Tceanc2	G	A	4: 107,034,778 (GRCm39)	T28M	probably damaging	Het
Tmco1	A	G	1: 167,136,254 (GRCm39)	D5G		Het
Tnfsf12	T	C	11: 69,577,713 (GRCm39)	K235E	probably damaging	Het
Trank1	T	C	9: 111,220,450 (GRCm39)	S2396P	possibly damaging	Het
Vipas39	T	A	12: 87,304,191 (GRCm39)	D125V	probably damaging	Het
Vmn1r86	A	G	7: 12,836,771 (GRCm39)	F35S	probably benign	Het
Vmn2r16	A	G	5: 109,511,649 (GRCm39)	N619D	probably damaging	Het
Vps13a	A	G	19: 16,718,157 (GRCm39)	V521A	probably benign	Het
Zbtb11	T	A	16: 55,821,022 (GRCm39)	C706*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zscan21	A	T	5: 138,116,178 (GRCm39)	Y30F	unknown	Het

Other mutations in Wdr20rt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Wdr20rt	APN	12	65,272,744 (GRCm39)	missense	possibly damaging	0.95
IGL02142:Wdr20rt	APN	12	65,274,039 (GRCm39)	missense	probably benign	0.22
IGL02938:Wdr20rt	APN	12	65,272,692 (GRCm39)	missense	probably benign	0.01
R0501:Wdr20rt	UTSW	12	65,272,581 (GRCm39)	missense	probably benign	0.02
R0548:Wdr20rt	UTSW	12	65,274,089 (GRCm39)	missense	probably benign	0.00
R0652:Wdr20rt	UTSW	12	65,272,689 (GRCm39)	missense	probably damaging	0.98
R1715:Wdr20rt	UTSW	12	65,274,088 (GRCm39)	missense	probably damaging	0.98
R1733:Wdr20rt	UTSW	12	65,274,055 (GRCm39)	missense	possibly damaging	0.87
R1851:Wdr20rt	UTSW	12	65,273,925 (GRCm39)	missense	possibly damaging	0.89
R2010:Wdr20rt	UTSW	12	65,273,988 (GRCm39)	missense	possibly damaging	0.88
R2214:Wdr20rt	UTSW	12	65,274,187 (GRCm39)	missense	probably damaging	1.00
R2254:Wdr20rt	UTSW	12	65,273,007 (GRCm39)	missense	probably damaging	1.00
R4793:Wdr20rt	UTSW	12	65,273,395 (GRCm39)	missense	probably damaging	0.99
R5169:Wdr20rt	UTSW	12	65,274,184 (GRCm39)	missense	probably damaging	0.99
R6238:Wdr20rt	UTSW	12	65,272,964 (GRCm39)	start gained	probably benign
R7018:Wdr20rt	UTSW	12	65,272,536 (GRCm39)	splice site	probably null
R7143:Wdr20rt	UTSW	12	65,272,692 (GRCm39)	missense	probably benign	0.08
R7707:Wdr20rt	UTSW	12	65,272,981 (GRCm39)	missense	probably damaging	1.00
R8473:Wdr20rt	UTSW	12	65,273,380 (GRCm39)	missense	probably damaging	1.00
R8556:Wdr20rt	UTSW	12	65,273,739 (GRCm39)	missense	probably benign	0.10
R9071:Wdr20rt	UTSW	12	65,274,222 (GRCm39)	missense	probably benign	0.09
R9159:Wdr20rt	UTSW	12	65,272,918 (GRCm39)	missense	probably damaging	0.99
R9513:Wdr20rt	UTSW	12	65,272,825 (GRCm39)	missense	probably damaging	1.00
R9655:Wdr20rt	UTSW	12	65,273,707 (GRCm39)	missense	probably benign
R9659:Wdr20rt	UTSW	12	65,273,343 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTTCAACCACCTAACGGC -3'
(R):5'- GCTCACACACGCTAAGAACTTG -3'

Sequencing Primer
(F):5'- TAACGGCCACAGCGGAG -3'
(R):5'- CGCTAAGAACTTGCCATCTGG -3'

Posted On

2020-10-20