Mutagenetix > Incidental Mutation

Incidental Mutation 'R7507:Ube3d'

581850

Institutional Source

Beutler Lab

Gene Symbol

Ube3d

Ensembl Gene

ENSMUSG00000032415

Gene Name

ubiquitin protein ligase E3D

Synonyms

2610018I03Rik, Ube2cbp

MMRRC Submission

045580-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R7507 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86189364-86347003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86304939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 301 (A301V)

Ref Sequence

ENSEMBL: ENSMUSP00000034986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034986] [ENSMUST00000121189]

AlphaFold

Q8BX13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034986
AA Change: A301V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034986
Gene: ENSMUSG00000032415
AA Change: A301V

Domain	Start	End	E-Value	Type
Pfam:HECT_2	13	364	1e-104	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121189

SMART Domains

Protein: ENSMUSP00000113549
Gene: ENSMUSG00000032415

Domain	Start	End	E-Value	Type
Pfam:HECT_2	13	364	2.6e-80	PFAM

Meta Mutation Damage Score

0.5372

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele cannot be obtained. Heterozygotes exhibit abnormal retinal pigment epithelium morphology and decreased a- and b-wave amplitude. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,652,177 (GRCm39)	T1359S	probably benign	Het
Adam8	C	T	7: 139,567,091 (GRCm39)		probably null	Het
Adnp2	A	G	18: 80,174,068 (GRCm39)	S114P	probably benign	Het
BC051019	T	A	7: 109,315,475 (GRCm39)	D260V	possibly damaging	Het
Btnl10	A	G	11: 58,811,384 (GRCm39)	T236A	probably benign	Het
Cacna1c	A	T	6: 119,034,200 (GRCm39)	L109Q		Het
Clint1	C	A	11: 45,799,776 (GRCm39)	Q512K	possibly damaging	Het
Dop1a	A	G	9: 86,418,002 (GRCm39)	N1957S	probably benign	Het
Gosr1	A	T	11: 76,645,240 (GRCm39)	N101K	probably benign	Het
Gria1	A	G	11: 57,119,765 (GRCm39)	T350A	probably benign	Het
Hs3st5	T	A	10: 36,709,011 (GRCm39)	V182D	probably damaging	Het
Igkv4-80	G	T	6: 68,993,677 (GRCm39)	S71R	probably benign	Het
Kif2b	A	G	11: 91,468,269 (GRCm39)	F5L	probably benign	Het
Med1	A	G	11: 98,048,852 (GRCm39)	L648P	probably damaging	Het
Mgat4a	G	A	1: 37,491,608 (GRCm39)	L375F	probably damaging	Het
Mlph	A	T	1: 90,855,429 (GRCm39)		probably benign	Het
Nbeal1	T	C	1: 60,274,626 (GRCm39)	S346P	probably damaging	Het
Nhlrc2	G	A	19: 56,585,810 (GRCm39)	V682I	not run	Het
Nos3	T	C	5: 24,577,642 (GRCm39)	M552T	probably damaging	Het
Or4e2	A	G	14: 52,687,930 (GRCm39)	N20S	probably benign	Het
Or5w19	T	C	2: 87,698,713 (GRCm39)	I126T	probably damaging	Het
Or6c209	T	A	10: 129,483,366 (GRCm39)	I123N	probably damaging	Het
Pcdha5	A	T	18: 37,093,909 (GRCm39)	R139S	probably benign	Het
Pik3r1	G	A	13: 101,845,490 (GRCm39)	S147L	probably benign	Het
Plppr4	T	A	3: 117,115,754 (GRCm39)	H701L	possibly damaging	Het
Pnpla1	T	C	17: 29,095,791 (GRCm39)	Y71H	probably damaging	Het
Ppp1r12c	G	A	7: 4,486,970 (GRCm39)	A521V	probably benign	Het
Rasgrp3	C	A	17: 75,804,055 (GRCm39)	D119E	probably damaging	Het
Rnf216	A	T	5: 143,075,557 (GRCm39)	D342E	probably damaging	Het
Rnpc3	A	T	3: 113,410,410 (GRCm39)	S294T	probably benign	Het
Sepsecs	A	G	5: 52,801,397 (GRCm39)	F422L	probably damaging	Het
Sgcz	T	A	8: 38,420,200 (GRCm39)	E17D	probably benign	Het
Slc2a5	T	C	4: 150,210,107 (GRCm39)	Y31H	probably damaging	Het
Spag9	A	G	11: 93,958,906 (GRCm39)	E310G	probably benign	Het
Stat4	A	G	1: 52,117,733 (GRCm39)	Y288C	probably damaging	Het
Tet1	A	G	10: 62,668,671 (GRCm39)		probably null	Het
Trim62	A	G	4: 128,790,664 (GRCm39)	T154A	probably benign	Het
Tubb4a	T	C	17: 57,388,642 (GRCm39)	D128G	probably damaging	Het
Utp6	A	G	11: 79,833,012 (GRCm39)	S444P	possibly damaging	Het
Vasn	T	C	16: 4,467,345 (GRCm39)	C431R	probably damaging	Het
Zfp260	T	C	7: 29,804,291 (GRCm39)	S64P	probably damaging	Het
Zfp451	A	T	1: 33,808,840 (GRCm39)	M1007K	probably damaging	Het
Zfp606	C	A	7: 12,226,868 (GRCm39)	Q330K	probably benign	Het

Other mutations in Ube3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0653:Ube3d	UTSW	9	86,334,043 (GRCm39)	missense	possibly damaging	0.95
R1163:Ube3d	UTSW	9	86,322,648 (GRCm39)	missense	probably benign	0.00
R1928:Ube3d	UTSW	9	86,305,056 (GRCm39)	missense	probably damaging	1.00
R1938:Ube3d	UTSW	9	86,330,840 (GRCm39)	missense	probably damaging	1.00
R2131:Ube3d	UTSW	9	86,254,540 (GRCm39)	splice site	probably null
R2760:Ube3d	UTSW	9	86,305,027 (GRCm39)	missense	probably benign	0.00
R4916:Ube3d	UTSW	9	86,304,925 (GRCm39)	missense	probably damaging	1.00
R5434:Ube3d	UTSW	9	86,309,460 (GRCm39)	missense	possibly damaging	0.95
R5804:Ube3d	UTSW	9	86,307,401 (GRCm39)	missense	probably benign	0.01
R5827:Ube3d	UTSW	9	86,254,489 (GRCm39)	missense	possibly damaging	0.95
R5936:Ube3d	UTSW	9	86,254,512 (GRCm39)	missense	probably benign	0.00
R7275:Ube3d	UTSW	9	86,322,679 (GRCm39)	missense	probably damaging	1.00
R7533:Ube3d	UTSW	9	86,304,990 (GRCm39)	missense	probably damaging	0.98
R7787:Ube3d	UTSW	9	86,254,395 (GRCm39)	missense	possibly damaging	0.79
R9252:Ube3d	UTSW	9	86,254,501 (GRCm39)	missense	probably damaging	1.00
R9506:Ube3d	UTSW	9	86,330,825 (GRCm39)	missense	probably damaging	0.96
X0019:Ube3d	UTSW	9	86,304,941 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AGCCTGACTTAGCACCACAG -3'
(R):5'- TCACTGATGTCTGGGAGCTC -3'

Sequencing Primer
(F):5'- AGCCATATGTACTGACAGCTG -3'
(R):5'- GTCTGGGAGCTCCAAATATTTCAG -3'

Posted On

2019-10-17