Mutagenetix > Incidental Mutation

Incidental Mutation 'R9252:Ube3d'

701611

Institutional Source

Beutler Lab

Gene Symbol

Ube3d

Ensembl Gene

ENSMUSG00000032415

Gene Name

ubiquitin protein ligase E3D

Synonyms

2610018I03Rik, Ube2cbp

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R9252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86189364-86347003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86254501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 327 (V327F)

Ref Sequence

ENSEMBL: ENSMUSP00000034986 (fasta)

Gene Model

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

AlphaFold

Q8BX13

Predicted Effect

probably damaging
Transcript: ENSMUST00000034986
AA Change: V327F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034986
Gene: ENSMUSG00000032415
AA Change: V327F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,920,641 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,865,496 (GRCm39)	N116D	probably benign	Het
Arfgef1	T	A	1: 10,243,122 (GRCm39)	R1073*	probably null	Het
Atp6v1d	T	A	12: 78,904,023 (GRCm39)	Q46L	probably benign	Het
Brme1	A	G	8: 84,898,878 (GRCm39)	S589G	possibly damaging	Het
Car15	A	T	16: 17,653,246 (GRCm39)	L307*	probably null	Het
Catspere2	A	T	1: 177,938,996 (GRCm39)	H623L	possibly damaging	Het
Ccdc146	T	C	5: 21,502,023 (GRCm39)	D797G	probably damaging	Het
Ccdc27	A	T	4: 154,125,507 (GRCm39)	D112E	unknown	Het
Ccp110	A	G	7: 118,321,673 (GRCm39)	I443V	probably benign	Het
Cd74	T	A	18: 60,941,364 (GRCm39)	M103K	possibly damaging	Het
Cdca2	T	A	14: 67,914,831 (GRCm39)	R809S	possibly damaging	Het
Cfap46	A	T	7: 139,198,165 (GRCm39)	V2061E	unknown	Het
Cimap1b	T	C	15: 89,262,601 (GRCm39)	S119G	probably benign	Het
Ddx11	G	A	17: 66,457,807 (GRCm39)	E873K	probably benign	Het
Gucy2d	G	A	7: 98,116,979 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,309,834 (GRCm39)	S1061R	probably damaging	Het
Ildr1	G	A	16: 36,536,574 (GRCm39)	R201H	probably damaging	Het
Jakmip2	T	A	18: 43,715,194 (GRCm39)	I111F	possibly damaging	Het
Kcnj2	A	G	11: 110,963,355 (GRCm39)	D249G	probably damaging	Het
Kif1a	T	A	1: 93,002,776 (GRCm39)	T208S	probably damaging	Het
Mgam	T	G	6: 40,706,577 (GRCm39)	M76R	probably damaging	Het
Mib1	T	G	18: 10,800,088 (GRCm39)	I809S	probably benign	Het
Myh8	G	T	11: 67,177,302 (GRCm39)	R456L	probably damaging	Het
Mzf1	T	C	7: 12,777,647 (GRCm39)	T665A	probably benign	Het
Nfya	T	C	17: 48,699,943 (GRCm39)	H27R		Het
Nhsl3	A	G	4: 129,117,269 (GRCm39)	V510A	probably benign	Het
Nktr	T	C	9: 121,579,415 (GRCm39)	M1161T	unknown	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Or13c7b	C	T	4: 43,821,109 (GRCm39)	G84D	probably benign	Het
Pde8b	C	T	13: 95,169,424 (GRCm39)	D567N	probably damaging	Het
Pik3cd	A	G	4: 149,740,087 (GRCm39)	I491T	possibly damaging	Het
Plcd3	G	T	11: 102,968,380 (GRCm39)	Y392*	probably null	Het
Plcd4	A	G	1: 74,588,359 (GRCm39)	I69M	probably damaging	Het
Plekhm2	T	C	4: 141,356,443 (GRCm39)	Y799C	probably damaging	Het
Pnlip	T	A	19: 58,669,273 (GRCm39)	I424N	possibly damaging	Het
Prlr	A	G	15: 10,326,550 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,522,247 (GRCm39)	V568A	probably benign	Het
Rtkn	A	G	6: 83,125,143 (GRCm39)	E201G	probably damaging	Het
Scg2	C	T	1: 79,414,069 (GRCm39)	R218H	probably damaging	Het
Shank2	A	G	7: 143,622,535 (GRCm39)	H223R	possibly damaging	Het
Slc23a2	A	T	2: 131,913,842 (GRCm39)	F312I	probably damaging	Het
Slc24a1	T	A	9: 64,835,394 (GRCm39)	E911V	probably damaging	Het
St8sia4	CCTCT	CCT	1: 95,555,232 (GRCm39)		probably null	Het
Stat1	C	A	1: 52,174,831 (GRCm39)	Q178K	probably benign	Het
Stat6	A	C	10: 127,483,661 (GRCm39)	N75T	probably benign	Het
Stk10	G	T	11: 32,538,915 (GRCm39)	K251N		Het
Sult1e1	G	T	5: 87,737,973 (GRCm39)	A36E	probably damaging	Het
Tbc1d12	A	G	19: 38,899,477 (GRCm39)	S466G	probably benign	Het
Thsd4	C	A	9: 59,964,230 (GRCm39)	A421S	probably benign	Het
Tsga10	T	A	1: 37,873,364 (GRCm39)	I172L	probably benign	Het
Ttn	A	T	2: 76,600,856 (GRCm39)	M18842K	probably benign	Het
Ttpal	T	G	2: 163,449,105 (GRCm39)		probably benign	Het
Twf2	A	G	9: 106,088,999 (GRCm39)	D62G	probably benign	Het
Ugt1a8	T	C	1: 88,015,706 (GRCm39)	S40P	probably benign	Het
Unc13c	A	T	9: 73,424,553 (GRCm39)	I2021N	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,849 (GRCm39)	Y701F	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
R7507:Ube3d	UTSW	9	86,304,939 (GRCm39)	missense	possibly damaging	0.95
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
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'- GAAACTTGCTCGCCATGGAC -3'
(R):5'- TGCTTTATGCCAGCAACAGC -3'

Sequencing Primer
(F):5'- GGACTCTCTCCTGTGAATGACAAG -3'
(R):5'- GAAGGTCACCAGACTCAGTTTTGTC -3'

Posted On

2022-03-25