Mutagenetix > Incidental Mutation

Incidental Mutation 'R2254:Wdr20rt'

241892

Institutional Source

Beutler Lab

Gene Symbol

Wdr20rt

Ensembl Gene

ENSMUSG00000035560

Gene Name

WD repeat domain 20, retrogene

Synonyms

4921538B03Rik, Wdr20b, 4930427E19Rik

MMRRC Submission

040254-MU

Accession Numbers

Essential gene?

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

Stock #

R2254 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65272291-65275228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65273007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 56 (W56R)

Ref Sequence

ENSEMBL: ENSMUSP00000152487 (fasta)

Gene Model

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

AlphaFold

Q9D5R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000046331
AA Change: W157R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036682
Gene: ENSMUSG00000035560
AA Change: W157R

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: W157R

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: W56R

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,311,365 (GRCm39)	E260G	probably benign	Het
AI429214	G	T	8: 37,460,920 (GRCm39)	D23Y	possibly damaging	Het
Alms1	A	G	6: 85,596,830 (GRCm39)	Y1021C	probably damaging	Het
Ang5	A	G	14: 44,200,074 (GRCm39)	D46G	probably benign	Het
Ano9	T	A	7: 140,683,003 (GRCm39)	D635V	probably benign	Het
Apob	C	T	12: 8,061,256 (GRCm39)	T3246I	possibly damaging	Het
Arhgef25	T	C	10: 127,025,390 (GRCm39)	E63G	probably benign	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Cdcp3	G	T	7: 130,824,634 (GRCm39)	C243F	probably damaging	Het
Cdh2	A	T	18: 16,776,985 (GRCm39)		probably null	Het
Chmp7	C	T	14: 69,958,405 (GRCm39)	V255I	probably damaging	Het
Dnhd1	T	A	7: 105,352,979 (GRCm39)	S2711T	probably damaging	Het
Gabrg1	T	A	5: 70,939,707 (GRCm39)	K137*	probably null	Het
Gdi2	T	A	13: 3,604,400 (GRCm39)		probably null	Het
Glyr1	A	G	16: 4,836,877 (GRCm39)	V429A	probably benign	Het
Gm5938	T	A	X: 77,172,161 (GRCm39)		probably null	Het
Golt1b	T	C	6: 142,341,979 (GRCm39)	L121P	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Ifi204	G	A	1: 173,589,296 (GRCm39)	T45M	possibly damaging	Het
Il18r1	A	G	1: 40,530,380 (GRCm39)	N369S	possibly damaging	Het
Kcnh1	G	T	1: 192,187,722 (GRCm39)		probably null	Het
Kitl	G	A	10: 99,915,993 (GRCm39)		probably null	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Lax1	A	G	1: 133,607,971 (GRCm39)	S257P	probably damaging	Het
Lepr	T	C	4: 101,672,309 (GRCm39)	I1111T	probably benign	Het
Lrrcc1	G	A	3: 14,612,315 (GRCm39)	R356H	probably damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Med11	T	C	11: 70,342,921 (GRCm39)		probably null	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nup93	T	C	8: 94,954,485 (GRCm39)		probably null	Het
Or51ag1	A	G	7: 103,155,271 (GRCm39)	V294A	probably damaging	Het
Ovch2	A	G	7: 107,389,402 (GRCm39)	V342A	probably benign	Het
Ovgp1	A	G	3: 105,894,228 (GRCm39)		probably benign	Het
Oxtr	A	T	6: 112,466,067 (GRCm39)	L231Q	probably damaging	Het
Prap1	A	G	7: 139,676,075 (GRCm39)	T30A	probably damaging	Het
Scg2	G	A	1: 79,414,217 (GRCm39)	P169S	probably damaging	Het
Scube2	A	G	7: 109,424,666 (GRCm39)	V549A	possibly damaging	Het
Slc22a12	A	T	19: 6,592,571 (GRCm39)	V57D	possibly damaging	Het
Slc22a28	A	C	19: 8,041,858 (GRCm39)	C450G	probably benign	Het
Tas2r120	A	T	6: 132,634,572 (GRCm39)	Q218L	probably benign	Het
Tbx15	A	G	3: 99,259,190 (GRCm39)	T354A	possibly damaging	Het
Trim24	A	G	6: 37,935,612 (GRCm39)	T868A	probably benign	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp40	T	C	17: 23,397,344 (GRCm39)	D51G	possibly damaging	Het
Zfp64	G	A	2: 168,768,662 (GRCm39)	H317Y	probably damaging	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
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
R8436:Wdr20rt	UTSW	12	65,273,035 (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'- GCAGCCCACTTGTCATGATTTC -3'
(R):5'- CTAAGAACTTGCCATCTGGGG -3'

Sequencing Primer
(F):5'- TGTCATGATTTCAACCACCTAACGG -3'
(R):5'- CTTGCCATCTGGGGAGAAAGC -3'

Posted On

2014-10-16