Mutagenetix > Incidental Mutation

Incidental Mutation 'R4192:Ube2q2l'

318353

Institutional Source

Beutler Lab

Gene Symbol

Ube2q2l

Ensembl Gene

ENSMUSG00000045291

Gene Name

ubiquitin conjugating enzyme E2 Q2 like

Synonyms

E330021D16Rik

MMRRC Submission

041023-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R4192 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136400317-136415569 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136401437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 132 (T132A)

Ref Sequence

ENSEMBL: ENSMUSP00000145343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058713] [ENSMUST00000203392] [ENSMUST00000204830]

AlphaFold

Q8BW45

Predicted Effect

probably benign
Transcript: ENSMUST00000058713
AA Change: T132A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000060726
Gene: ENSMUSG00000045291
AA Change: T132A

Domain	Start	End	E-Value	Type
Blast:RWD	7	135	7e-63	BLAST
low complexity region	157	168	N/A	INTRINSIC
UBCc	204	364	2.33e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203392

SMART Domains

Protein: ENSMUSP00000144858
Gene: ENSMUSG00000045291

Domain	Start	End	E-Value	Type
Pfam:RWD	1	110	8.9e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204830
AA Change: T132A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145343
Gene: ENSMUSG00000045291
AA Change: T132A

Domain	Start	End	E-Value	Type
Blast:RWD	7	135	7e-63	BLAST
low complexity region	157	168	N/A	INTRINSIC
UBCc	204	364	2.33e-5	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 36,096,579 (GRCm38)	R178L	possibly damaging	Het
Acot4	T	C	12: 84,043,174 (GRCm38)		probably benign	Het
Add3	C	A	19: 53,242,524 (GRCm38)	D543E	probably benign	Het
Angpt4	A	C	2: 151,943,318 (GRCm38)	D418A	probably benign	Het
Ano8	A	T	8: 71,483,292 (GRCm38)	V260D	probably damaging	Het
Cfh	C	T	1: 140,102,716 (GRCm38)	R860H	possibly damaging	Het
Csmd3	T	C	15: 47,847,271 (GRCm38)	D1536G	probably damaging	Het
Dnajb9	A	T	12: 44,207,077 (GRCm38)	D182E	probably benign	Het
Epb42	G	T	2: 121,030,089 (GRCm38)		probably null	Het
Fam185a	T	A	5: 21,425,124 (GRCm38)		probably benign	Het
Fer1l6	A	G	15: 58,647,149 (GRCm38)	D1710G	probably damaging	Het
Gabra2	G	A	5: 71,007,998 (GRCm38)	P210S	probably benign	Het
Gm8369	C	T	19: 11,502,232 (GRCm38)	P9S	probably damaging	Het
Il17ra	A	G	6: 120,481,511 (GRCm38)	D541G	probably damaging	Het
Ints4	T	G	7: 97,507,733 (GRCm38)	H337Q	probably damaging	Het
Itgam	A	G	7: 128,064,732 (GRCm38)	T44A	probably benign	Het
Lyst	C	A	13: 13,740,513 (GRCm38)	T3264N	probably damaging	Het
Macf1	A	G	4: 123,473,042 (GRCm38)	F1077S	possibly damaging	Het
Myo3a	T	A	2: 22,407,377 (GRCm38)	F728I	probably damaging	Het
Nacad	T	C	11: 6,605,534 (GRCm38)	E72G	probably benign	Het
Nkain3	G	A	4: 20,485,003 (GRCm38)	Q25*	probably null	Het
Oca2	T	C	7: 56,297,249 (GRCm38)	F342S	probably damaging	Het
Or10d1c	T	A	9: 38,983,017 (GRCm38)	Q9L	probably benign	Het
Osbpl6	T	A	2: 76,585,229 (GRCm38)	L499Q	probably damaging	Het
Pcdhgb8	G	C	18: 37,763,541 (GRCm38)	D555H	probably damaging	Het
Peak1	A	T	9: 56,258,741 (GRCm38)	N634K	probably damaging	Het
Pitpnm3	T	C	11: 72,051,959 (GRCm38)	K818R	possibly damaging	Het
Rab3gap1	T	A	1: 127,925,470 (GRCm38)		probably benign	Het
Rcc1l	T	C	5: 134,155,809 (GRCm38)	T385A	probably benign	Het
Rrm2	T	C	12: 24,708,378 (GRCm38)	I11T	probably benign	Het
Scnn1b	A	G	7: 121,902,739 (GRCm38)	T207A	possibly damaging	Het
Spata31f3	A	T	4: 42,874,185 (GRCm38)		probably benign	Het
Syt12	T	A	19: 4,447,681 (GRCm38)		probably benign	Het
Tmprss6	A	T	15: 78,446,657 (GRCm38)		probably null	Het
Ttbk1	A	T	17: 46,479,247 (GRCm38)	C91S	probably damaging	Het
Vit	A	G	17: 78,586,826 (GRCm38)	H219R	probably benign	Het
Vmn1r27	A	C	6: 58,215,827 (GRCm38)	I14R	probably damaging	Het

Other mutations in Ube2q2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:Ube2q2l	APN	6	136,400,998 (GRCm38)	missense	possibly damaging	0.53
IGL01701:Ube2q2l	APN	6	136,400,806 (GRCm38)	missense	probably damaging	0.99
IGL02194:Ube2q2l	APN	6	136,401,058 (GRCm38)	missense	probably benign	0.00
IGL03266:Ube2q2l	APN	6	136,400,923 (GRCm38)	missense	probably damaging	1.00
R1270:Ube2q2l	UTSW	6	136,401,787 (GRCm38)	missense	probably damaging	0.97
R1893:Ube2q2l	UTSW	6	136,401,827 (GRCm38)	missense	possibly damaging	0.92
R5371:Ube2q2l	UTSW	6	136,401,373 (GRCm38)	missense	probably benign	0.02
R6418:Ube2q2l	UTSW	6	136,401,101 (GRCm38)	missense	probably damaging	1.00
R6999:Ube2q2l	UTSW	6	136,401,274 (GRCm38)	missense	probably benign	0.01
R7035:Ube2q2l	UTSW	6	136,401,349 (GRCm38)	missense	possibly damaging	0.77
R7316:Ube2q2l	UTSW	6	136,401,278 (GRCm38)	missense	possibly damaging	0.92
R8125:Ube2q2l	UTSW	6	136,401,186 (GRCm38)	missense	possibly damaging	0.72
R8179:Ube2q2l	UTSW	6	136,401,242 (GRCm38)	missense	probably damaging	1.00
R8222:Ube2q2l	UTSW	6	136,400,884 (GRCm38)	missense	probably damaging	0.97
R8225:Ube2q2l	UTSW	6	136,401,112 (GRCm38)	missense	probably damaging	1.00
R8421:Ube2q2l	UTSW	6	136,401,352 (GRCm38)	missense	probably damaging	0.97
R8784:Ube2q2l	UTSW	6	136,401,731 (GRCm38)	nonsense	probably null
R9080:Ube2q2l	UTSW	6	136,400,722 (GRCm38)	missense	probably damaging	1.00
R9103:Ube2q2l	UTSW	6	136,401,013 (GRCm38)	missense	probably benign	0.39
R9279:Ube2q2l	UTSW	6	136,400,980 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTATCTGAAGCACACACTGAGC -3'
(R):5'- GGACTCTGACGATCCAGATCTC -3'

Sequencing Primer
(F):5'- AGACGTGGCACCACTTG -3'
(R):5'- GATCCAGATCTCACATCGATCCTGG -3'

Posted On

2015-06-10