Mutagenetix > Incidental Mutation

Incidental Mutation 'R0653:Ube3d'

62385

Institutional Source

Beutler Lab

Gene Symbol

Ube3d

Ensembl Gene

ENSMUSG00000032415

Gene Name

ubiquitin protein ligase E3D

Synonyms

2610018I03Rik, Ube2cbp

MMRRC Submission

038838-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R0653 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

86189364-86347003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86334043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 33 (M33K)

Ref Sequence

ENSEMBL: ENSMUSP00000113549 (fasta)

Gene Model

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

AlphaFold

Q8BX13

Predicted Effect

probably benign
Transcript: ENSMUST00000034986
AA Change: M33K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034986
Gene: ENSMUSG00000032415
AA Change: M33K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121189
AA Change: M33K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113549
Gene: ENSMUSG00000032415
AA Change: M33K

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,066,371 (GRCm39)	R612*	probably null	Het
Adgra1	A	G	7: 139,456,063 (GRCm39)	T564A	probably damaging	Het
Akr1c18	A	T	13: 4,195,307 (GRCm39)	D50E	probably damaging	Het
Atg9a	C	A	1: 75,166,972 (GRCm39)	L26F	probably damaging	Het
Atp11b	A	G	3: 35,893,343 (GRCm39)	T899A	probably damaging	Het
Atxn2	A	G	5: 121,910,841 (GRCm39)	E358G	probably damaging	Het
Bmp3	A	G	5: 99,019,970 (GRCm39)	Y131C	probably damaging	Het
Brip1	T	C	11: 86,043,484 (GRCm39)	E360G	possibly damaging	Het
Casd1	A	T	6: 4,608,075 (GRCm39)	I76L	probably benign	Het
Casq2	G	A	3: 102,020,482 (GRCm39)		probably null	Het
Ccdc185	T	A	1: 182,575,129 (GRCm39)	Q520L	possibly damaging	Het
Cenpf	T	C	1: 189,392,183 (GRCm39)	K550E	probably damaging	Het
Ciz1	T	C	2: 32,262,418 (GRCm39)	S521P	probably damaging	Het
Clstn2	A	T	9: 97,340,257 (GRCm39)	V705E	probably damaging	Het
Dagla	A	G	19: 10,225,789 (GRCm39)	Y792H	probably damaging	Het
Dgke	A	T	11: 88,950,995 (GRCm39)	C73S	probably benign	Het
Egflam	A	G	15: 7,279,509 (GRCm39)		probably null	Het
Farp1	T	C	14: 121,471,258 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,790 (GRCm39)	E234G	probably benign	Het
Gtf3c5	A	T	2: 28,468,008 (GRCm39)	M151K	probably benign	Het
Hgs	G	A	11: 120,359,904 (GRCm39)	R36H	probably damaging	Het
Lats2	G	A	14: 57,937,653 (GRCm39)	Q279*	probably null	Het
Lysmd4	T	A	7: 66,875,788 (GRCm39)	D150E	probably benign	Het
Mex3b	A	G	7: 82,518,242 (GRCm39)	K186E	probably damaging	Het
Myo9a	A	C	9: 59,832,274 (GRCm39)	Q2601P	probably damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nr5a2	A	G	1: 136,876,543 (GRCm39)	V40A	probably benign	Het
Obscn	C	A	11: 58,898,534 (GRCm39)		probably benign	Het
Or2y1d	C	A	11: 49,322,078 (GRCm39)	Y258*	probably null	Het
Or4c114	A	G	2: 88,904,808 (GRCm39)	I209T	possibly damaging	Het
Or8g4	A	G	9: 39,661,934 (GRCm39)	N84S	probably benign	Het
Pclo	T	A	5: 14,732,269 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,118,228 (GRCm39)	I2939V	probably benign	Het
Rtn4	A	T	11: 29,657,256 (GRCm39)	K470I	probably damaging	Het
Sbno1	A	G	5: 124,524,955 (GRCm39)	I1050T	possibly damaging	Het
Scaf11	G	T	15: 96,316,522 (GRCm39)	S17*	probably null	Het
Scn9a	A	T	2: 66,363,721 (GRCm39)	N841K	probably damaging	Het
Slc35e3	C	A	10: 117,576,711 (GRCm39)	E207*	probably null	Het
Slc6a20b	A	G	9: 123,426,377 (GRCm39)	F503L	probably damaging	Het
Spag16	G	T	1: 69,909,504 (GRCm39)	K200N	probably damaging	Het
Supt6	G	T	11: 78,116,841 (GRCm39)	Q604K	probably benign	Het
Taok1	A	G	11: 77,469,550 (GRCm39)		probably null	Het
Tjp1	A	T	7: 64,964,503 (GRCm39)	H889Q	probably damaging	Het
Tmed6	A	T	8: 107,792,283 (GRCm39)		probably null	Het
Tsen54	A	T	11: 115,705,887 (GRCm39)	E68V	probably damaging	Het
Ttn	A	G	2: 76,559,878 (GRCm39)	S21181P	probably damaging	Het
Umodl1	C	A	17: 31,203,002 (GRCm39)	Q452K	probably benign	Het
Wif1	G	T	10: 120,935,704 (GRCm39)	A354S	probably benign	Het
Wnk2	A	G	13: 49,210,492 (GRCm39)	F1788L	possibly damaging	Het
Zfhx3	A	T	8: 109,673,440 (GRCm39)	I1497F	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp30	G	A	7: 29,492,178 (GRCm39)	R225Q	probably damaging	Het
Zfp87	T	C	13: 74,520,190 (GRCm39)	E296G	probably damaging	Het
Zfp874b	A	G	13: 67,623,052 (GRCm39)	F86S	possibly damaging	Het
Zfyve19	A	G	2: 119,041,696 (GRCm39)	S88G	probably benign	Het

Other mutations in Ube3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- CCCTCCAGGTCATTGATTGCCTAAC -3'
(R):5'- AACCTAGTCCAGCTTGTCTCCCAG -3'

Sequencing Primer
(F):5'- TCAAAGCCCTCCAGGAGTG -3'
(R):5'- GTCTCCCAGGGTCTGTTTC -3'

Posted On

2013-07-30