Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02985:Ube2d2b'

406670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2d2b

Ensembl Gene

ENSMUSG00000063447

Gene Name

ubiquitin-conjugating enzyme E2D 2B

Synonyms

1700013N18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

IGL02985

Quality Score

Status

Chromosome

Chromosomal Location

107978028-107979643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107978663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 105 (S105P)

Ref Sequence

ENSEMBL: ENSMUSP00000072387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072578] [ENSMUST00000112642] [ENSMUST00000124034] [ENSMUST00000128723] [ENSMUST00000138111] [ENSMUST00000155955]

AlphaFold

Q6ZWY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000072578
AA Change: S105P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072387
Gene: ENSMUSG00000063447
AA Change: S105P

Domain	Start	End	E-Value	Type
UBCc	4	147	3.7e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112642

SMART Domains

Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
low complexity region	51	80	N/A	INTRINSIC
Blast:TBC	81	157	2e-16	BLAST
TBC	160	371	7.92e-91	SMART
internal_repeat_1	450	477	8.83e-6	PROSPERO
internal_repeat_1	494	521	8.83e-6	PROSPERO
coiled coil region	555	717	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124034

SMART Domains

Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	3e-17	BLAST
TBC	116	327	7.92e-91	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127579

Predicted Effect

probably benign
Transcript: ENSMUST00000128723

SMART Domains

Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	2e-16	BLAST
TBC	116	327	7.92e-91	SMART
internal_repeat_1	466	493	2.66e-6	PROSPERO
internal_repeat_1	510	537	2.66e-6	PROSPERO
coiled coil region	571	660	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132482

Predicted Effect

probably benign
Transcript: ENSMUST00000138111

SMART Domains

Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	3e-17	BLAST
TBC	116	327	7.92e-91	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141673

Predicted Effect

probably benign
Transcript: ENSMUST00000155955

SMART Domains

Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831

Domain	Start	End	E-Value	Type
Blast:TBC	18	133	3e-20	BLAST
Pfam:RabGAP-TBC	150	222	1.6e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,878,641 (GRCm39)	E318G	probably damaging	Het
Birc6	T	C	17: 74,947,185 (GRCm39)	V2968A	probably benign	Het
Bltp1	T	C	3: 37,012,906 (GRCm39)	L1862S	probably damaging	Het
Cfap91	T	A	16: 38,118,634 (GRCm39)	I722F	probably damaging	Het
Csgalnact1	A	G	8: 68,913,695 (GRCm39)	V170A	probably benign	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Dph1	A	G	11: 75,074,419 (GRCm39)	V131A	possibly damaging	Het
Galr1	A	T	18: 82,411,855 (GRCm39)	M337K	probably benign	Het
Gm14214	G	T	2: 154,611,374 (GRCm39)	T160N	probably benign	Het
Gpatch8	G	T	11: 102,372,336 (GRCm39)	H401N	unknown	Het
Higd1a	A	G	9: 121,681,596 (GRCm39)	F20L	probably benign	Het
Hmcn1	A	T	1: 150,547,668 (GRCm39)	I2761K	probably damaging	Het
Hspg2	T	A	4: 137,235,114 (GRCm39)	Y83N	probably damaging	Het
Ilvbl	C	T	10: 78,414,901 (GRCm39)	P255S	probably benign	Het
Kpna2	T	C	11: 106,880,163 (GRCm39)	Y495C	probably benign	Het
Krt36	G	T	11: 99,994,005 (GRCm39)	Q327K	probably benign	Het
Lrrc34	T	C	3: 30,690,444 (GRCm39)	M153V	probably benign	Het
Map9	A	T	3: 82,267,209 (GRCm39)	R30*	probably null	Het
Mcf2l	A	G	8: 13,013,239 (GRCm39)	Y48C	probably damaging	Het
Mfsd13b	T	A	7: 120,599,395 (GRCm39)	I397K	probably damaging	Het
Mpp7	C	A	18: 7,461,637 (GRCm39)		probably null	Het
Mrgprx2	C	T	7: 48,132,245 (GRCm39)	C191Y	probably damaging	Het
Or4c58	A	T	2: 89,674,684 (GRCm39)	I211N	possibly damaging	Het
Pabpc4l	A	G	3: 46,401,017 (GRCm39)	V209A	possibly damaging	Het
Pde7a	T	A	3: 19,365,047 (GRCm39)	H40L	probably damaging	Het
Phactr3	T	C	2: 177,817,250 (GRCm39)	V22A	probably benign	Het
Plcl2	G	T	17: 50,994,842 (GRCm39)	E1104*	probably null	Het
Ppp2cb	A	G	8: 34,105,474 (GRCm39)		probably benign	Het
Prl3c1	A	T	13: 27,383,370 (GRCm39)	Y12F	probably damaging	Het
Prune2	T	C	19: 16,993,723 (GRCm39)		probably null	Het
Rfesd	T	C	13: 76,156,331 (GRCm39)	D25G	probably damaging	Het
Rxfp1	C	A	3: 79,559,533 (GRCm39)	M429I	possibly damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Zfp518a	C	T	19: 40,902,111 (GRCm39)	T680I	possibly damaging	Het

Other mutations in Ube2d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0010:Ube2d2b	UTSW	5	107,978,502 (GRCm39)	missense	possibly damaging	0.56
R0010:Ube2d2b	UTSW	5	107,978,502 (GRCm39)	missense	possibly damaging	0.56
R0308:Ube2d2b	UTSW	5	107,978,774 (GRCm39)	missense	possibly damaging	0.67
R4151:Ube2d2b	UTSW	5	107,978,747 (GRCm39)	nonsense	probably null
R5907:Ube2d2b	UTSW	5	107,978,498 (GRCm39)	missense	probably damaging	1.00
R7124:Ube2d2b	UTSW	5	107,978,717 (GRCm39)	missense	probably benign	0.16
R9529:Ube2d2b	UTSW	5	107,978,438 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02