Mutagenetix > Incidental Mutation

Incidental Mutation 'R8225:Ube2q2l'

636930

Institutional Source

Beutler Lab

Gene Symbol

Ube2q2l

Ensembl Gene

ENSMUSG00000045291

Gene Name

ubiquitin conjugating enzyme E2 Q2 like

Synonyms

E330021D16Rik

MMRRC Submission

067642-MU

Accession Numbers

Essential gene?

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

Stock #

R8225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136377315-136392567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136378110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 240 (L240Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145343 (fasta)

Gene Model

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

AlphaFold

Q8BW45

Predicted Effect

probably damaging
Transcript: ENSMUST00000058713
AA Change: L240Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060726
Gene: ENSMUSG00000045291
AA Change: L240Q

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 damaging
Transcript: ENSMUST00000204830
AA Change: L240Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145343
Gene: ENSMUSG00000045291
AA Change: L240Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,865,597 (GRCm39)	N82S	probably benign	Het
Ago3	A	T	4: 126,247,532 (GRCm39)	L595Q	probably damaging	Het
Bpifc	T	C	10: 85,836,431 (GRCm39)	T25A	probably benign	Het
Bsn	T	A	9: 107,984,305 (GRCm39)	T478S		Het
Cacna1d	A	G	14: 29,844,990 (GRCm39)	V720A	probably benign	Het
Cd109	G	T	9: 78,568,972 (GRCm39)	K350N	probably damaging	Het
Cdk6	C	A	5: 3,440,790 (GRCm39)	P115T	probably benign	Het
Clock	T	C	5: 76,389,759 (GRCm39)	N363S	probably damaging	Het
Defa42	T	C	8: 21,946,418 (GRCm39)	D39G	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dock10	T	A	1: 80,481,447 (GRCm39)	K517*	probably null	Het
Dynlt1a	G	T	17: 6,361,628 (GRCm39)	Q71K	probably damaging	Het
Epb41l3	C	T	17: 69,581,796 (GRCm39)	T591I	possibly damaging	Het
Exosc10	G	A	4: 148,649,661 (GRCm39)	V364I	possibly damaging	Het
Fabp3-ps1	A	G	10: 86,568,098 (GRCm39)	I52T	noncoding transcript	Het
Fndc3a	T	C	14: 72,795,117 (GRCm39)	Q766R	probably benign	Het
Gm10608	CACACACACAGA	CA	9: 118,989,776 (GRCm39)		probably null	Het
Gm10645	C	T	8: 83,892,467 (GRCm39)	R80H	unknown	Het
Gpr146	A	T	5: 139,378,371 (GRCm39)	M58L	probably benign	Het
Gzf1	T	A	2: 148,532,764 (GRCm39)	F639L	probably benign	Het
Kars1	T	C	8: 112,729,970 (GRCm39)	I136V	probably benign	Het
Kcnj3	G	A	2: 55,327,726 (GRCm39)	V172M	probably damaging	Het
Kcnk10	A	G	12: 98,406,849 (GRCm39)		probably null	Het
Nagpa	C	A	16: 5,016,724 (GRCm39)	D334Y	probably damaging	Het
Nsun2	T	C	13: 69,760,493 (GRCm39)	I57T	possibly damaging	Het
Or5b107	A	T	19: 13,142,507 (GRCm39)	N43I	probably damaging	Het
Pax8	A	T	2: 24,312,983 (GRCm39)	L432Q	probably damaging	Het
Plxna4	A	G	6: 32,139,038 (GRCm39)	L1710P	probably damaging	Het
Prdm16	A	G	4: 154,439,702 (GRCm39)		probably null	Het
Qrich2	A	G	11: 116,344,894 (GRCm39)	L1721P	probably damaging	Het
Sbsn	TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG	TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG	7: 30,451,419 (GRCm39)		probably benign	Het
Sbsn	T	C	7: 30,451,869 (GRCm39)	F295L	probably benign	Het
Slc4a7	C	T	14: 14,738,224 (GRCm38)	R153*	probably null	Het
Sult6b2	A	T	6: 142,750,055 (GRCm39)	M21K	probably benign	Het
Swt1	A	C	1: 151,297,859 (GRCm39)	S23A	possibly damaging	Het
Synm	A	C	7: 67,408,797 (GRCm39)	S194A	probably benign	Het
Sytl2	G	A	7: 90,024,725 (GRCm39)	A238T	probably benign	Het
Tax1bp1	G	A	6: 52,721,340 (GRCm39)		probably null	Het
Tfr2	G	A	5: 137,569,725 (GRCm39)	A74T	possibly damaging	Het
Tns1	G	A	1: 74,025,046 (GRCm39)	T389I	probably damaging	Het
Trpm2	C	T	10: 77,783,807 (GRCm39)	R222Q	probably damaging	Het
Trpm4	A	G	7: 44,954,758 (GRCm39)	C1094R	probably benign	Het
Uty	T	C	Y: 1,158,634 (GRCm39)	S471G	probably benign	Het
Vipr1	A	T	9: 121,471,915 (GRCm39)	M1L	possibly damaging	Het
Vps13b	A	G	15: 35,794,528 (GRCm39)	R2313G	probably damaging	Het
Xrn1	T	A	9: 95,917,720 (GRCm39)	C1301S	probably benign	Het
Ythdc1	A	T	5: 86,964,796 (GRCm39)	S164C	possibly damaging	Het
Ythdc1	G	T	5: 86,964,797 (GRCm39)	S164I	possibly damaging	Het
Zbtb9	T	A	17: 27,193,759 (GRCm39)	I388N	probably damaging	Het
Zfp521	T	C	18: 13,978,359 (GRCm39)	I685V	probably benign	Het

Other mutations in Ube2q2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:Ube2q2l	APN	6	136,377,996 (GRCm39)	missense	possibly damaging	0.53
IGL01701:Ube2q2l	APN	6	136,377,804 (GRCm39)	missense	probably damaging	0.99
IGL02194:Ube2q2l	APN	6	136,378,056 (GRCm39)	missense	probably benign	0.00
IGL03266:Ube2q2l	APN	6	136,377,921 (GRCm39)	missense	probably damaging	1.00
R1270:Ube2q2l	UTSW	6	136,378,785 (GRCm39)	missense	probably damaging	0.97
R1893:Ube2q2l	UTSW	6	136,378,825 (GRCm39)	missense	possibly damaging	0.92
R4192:Ube2q2l	UTSW	6	136,378,435 (GRCm39)	missense	probably benign	0.06
R5371:Ube2q2l	UTSW	6	136,378,371 (GRCm39)	missense	probably benign	0.02
R6418:Ube2q2l	UTSW	6	136,378,099 (GRCm39)	missense	probably damaging	1.00
R6999:Ube2q2l	UTSW	6	136,378,272 (GRCm39)	missense	probably benign	0.01
R7035:Ube2q2l	UTSW	6	136,378,347 (GRCm39)	missense	possibly damaging	0.77
R7316:Ube2q2l	UTSW	6	136,378,276 (GRCm39)	missense	possibly damaging	0.92
R8125:Ube2q2l	UTSW	6	136,378,184 (GRCm39)	missense	possibly damaging	0.72
R8179:Ube2q2l	UTSW	6	136,378,240 (GRCm39)	missense	probably damaging	1.00
R8222:Ube2q2l	UTSW	6	136,377,882 (GRCm39)	missense	probably damaging	0.97
R8421:Ube2q2l	UTSW	6	136,378,350 (GRCm39)	missense	probably damaging	0.97
R8784:Ube2q2l	UTSW	6	136,378,729 (GRCm39)	nonsense	probably null
R9080:Ube2q2l	UTSW	6	136,377,720 (GRCm39)	missense	probably damaging	1.00
R9103:Ube2q2l	UTSW	6	136,378,011 (GRCm39)	missense	probably benign	0.39
R9279:Ube2q2l	UTSW	6	136,377,978 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGCCCTGATTGGTAAGC -3'
(R):5'- ATCTTACGGACTGGACGACTC -3'

Sequencing Primer
(F):5'- CAGCCCTGATTGGTAAGCAGTTC -3'
(R):5'- GACTGGACGACTCGGATTATTATGAC -3'

Posted On

2020-07-13