Mutagenetix > Incidental Mutation

Incidental Mutation 'R9659:Wdr20rt'

727466

Institutional Source

Beutler Lab

Gene Symbol

Wdr20rt

Ensembl Gene

ENSMUSG00000035560

Gene Name

WD repeat domain 20, retrogene

Synonyms

4921538B03Rik, Wdr20b, 4930427E19Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9659 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65272291-65275228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65273343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 269 (S269C)

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: S269C

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

SMART Domains

Protein: ENSMUSP00000036682
Gene: ENSMUSG00000035560
AA Change: S269C

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: S269C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000221980
AA Change: S96C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222822
AA Change: S168C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cabp1	T	C	5: 115,311,187 (GRCm39)	D289G	possibly damaging	Het
Ccdc14	A	G	16: 34,541,913 (GRCm39)	I545V	probably damaging	Het
Cep295	C	A	9: 15,233,846 (GRCm39)	A2317S	probably benign	Het
Cerkl	T	C	2: 79,223,322 (GRCm39)	D133G	possibly damaging	Het
Cited4	T	G	4: 120,524,543 (GRCm39)	C182G	probably damaging	Het
Col6a5	T	A	9: 105,811,034 (GRCm39)	K828N	unknown	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ep300	A	G	15: 81,505,273 (GRCm39)	Y631C	unknown	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Fbn2	C	G	18: 58,342,654 (GRCm39)	R75P	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm21886	AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG	AGAGGCCTG	18: 80,132,776 (GRCm39)		probably benign	Het
Gm3604	A	T	13: 62,519,724 (GRCm39)	H10Q	possibly damaging	Het
Helz2	T	C	2: 180,882,025 (GRCm39)	D256G	probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hpgd	C	G	8: 56,772,075 (GRCm39)	C182W	probably damaging	Het
Htr5b	A	G	1: 121,455,428 (GRCm39)	L164P	possibly damaging	Het
Kmo	T	C	1: 175,486,085 (GRCm39)	F403L	probably damaging	Het
Ly75	C	A	2: 60,168,665 (GRCm39)	D748Y	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Myo18b	T	C	5: 113,022,382 (GRCm39)	T337A	unknown	Het
Nlrp1b	T	A	11: 71,073,132 (GRCm39)	Q237L	possibly damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Or10al6	T	G	17: 38,082,880 (GRCm39)	F112C	probably damaging	Het
Or1l4	T	A	2: 37,091,897 (GRCm39)	C215S	possibly damaging	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or5p4	T	C	7: 107,680,745 (GRCm39)	V248A	probably damaging	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Pcsk5	A	G	19: 17,455,245 (GRCm39)	Y1062H	probably benign	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhh2	T	A	17: 84,854,892 (GRCm39)	M42K	possibly damaging	Het
Polr2a	T	C	11: 69,625,654 (GRCm39)	Y1832C	unknown	Het
Prpf4	G	A	4: 62,334,296 (GRCm39)		probably null	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptpn14	T	A	1: 189,587,174 (GRCm39)	M528K	probably benign	Het
Rb1cc1	T	A	1: 6,318,673 (GRCm39)	H697Q	probably benign	Het
Reg3a	T	G	6: 78,360,574 (GRCm39)	C171G	possibly damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tcstv2a	T	A	13: 120,725,754 (GRCm39)	D139E	probably damaging	Het
Tlk2	T	C	11: 105,131,263 (GRCm39)	I203T	probably benign	Het
Tmem120b	T	G	5: 123,253,788 (GRCm39)	H279Q	probably damaging	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ubr5	A	T	15: 37,984,254 (GRCm39)	L2298I		Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vcan	A	G	13: 89,839,860 (GRCm39)	Y1895H	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Zfand4	T	G	6: 116,282,588 (GRCm39)	Y54D	probably damaging	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	probably damaging	Het
Zmiz2	A	G	11: 6,346,814 (GRCm39)	E141G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCCACAAGGGACCTTAAGTGG -3'
(R):5'- CGATCTCTGCCAAAATGAAGAAGG -3'

Sequencing Primer
(F):5'- ACCTTAAGTGGACGGTGGGC -3'
(R):5'- TGTCACTGTCACTAAACTCCATAGGG -3'

Posted On

2022-10-06