Mutagenetix > Incidental Mutation

Incidental Mutation 'R6418:Ube2q2l'

518069

Institutional Source

Beutler Lab

Gene Symbol

Ube2q2l

Ensembl Gene

ENSMUSG00000045291

Gene Name

ubiquitin conjugating enzyme E2 Q2 like

Synonyms

E330021D16Rik

MMRRC Submission

044560-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R6418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136377315-136392567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136378099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 244 (D244Y)

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: D244Y

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

SMART Domains

Protein: ENSMUSP00000060726
Gene: ENSMUSG00000045291
AA Change: D244Y

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: D244Y

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

SMART Domains

Protein: ENSMUSP00000145343
Gene: ENSMUSG00000045291
AA Change: D244Y

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: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930507D05Rik	C	T	10: 62,285,441 (GRCm39)	A55V	unknown	Het
Adra1b	T	G	11: 43,667,028 (GRCm39)	D403A	probably benign	Het
Ankdd1b	A	T	13: 96,597,405 (GRCm39)	L9Q	probably damaging	Het
Ankrd17	A	T	5: 90,426,204 (GRCm39)	S789R	possibly damaging	Het
B3galnt1	A	G	3: 69,482,326 (GRCm39)	S312P	probably damaging	Het
C4bp	C	T	1: 130,583,750 (GRCm39)	V73M	probably damaging	Het
Ccdc121rt2	T	C	5: 112,598,019 (GRCm39)	S189P	probably benign	Het
Cenpe	T	A	3: 134,957,305 (GRCm39)	N1854K	probably damaging	Het
Chrm2	A	C	6: 36,500,674 (GRCm39)	Y177S	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Csad	A	G	15: 102,087,958 (GRCm39)	S322P	probably damaging	Het
Depdc1b	T	G	13: 108,493,956 (GRCm39)	Y115D	probably damaging	Het
Dnah17	T	C	11: 118,020,023 (GRCm39)	Y8C	probably damaging	Het
Dsg3	T	C	18: 20,656,817 (GRCm39)		probably null	Het
Elf5	A	G	2: 103,269,697 (GRCm39)	T93A	possibly damaging	Het
Eogt	C	T	6: 97,122,353 (GRCm39)	D27N	possibly damaging	Het
Fam118b	T	C	9: 35,146,633 (GRCm39)	D78G	probably damaging	Het
Fhip2a	T	A	19: 57,370,166 (GRCm39)	M470K	probably benign	Het
Frem3	A	G	8: 81,337,781 (GRCm39)	T25A	probably benign	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Golm1	T	C	13: 59,813,375 (GRCm39)	Y32C	probably damaging	Het
Has1	A	T	17: 18,070,207 (GRCm39)	V238E	probably damaging	Het
Hkdc1	T	C	10: 62,219,583 (GRCm39)	R907G	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Krtap24-1	C	T	16: 88,408,761 (GRCm39)	V122I	probably damaging	Het
Lrrc10	T	G	10: 116,881,616 (GRCm39)	L97V	probably damaging	Het
Map3k20	T	A	2: 72,232,457 (GRCm39)	M371K	probably benign	Het
Mis18bp1	A	T	12: 65,205,317 (GRCm39)	M2K	possibly damaging	Het
Mob3b	T	A	4: 34,954,049 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,570,607 (GRCm39)	T556A	possibly damaging	Het
Muc6	A	C	7: 141,224,032 (GRCm39)		probably benign	Het
Ncapg	A	T	5: 45,839,158 (GRCm39)	L519F	probably damaging	Het
Nfix	A	G	8: 85,453,778 (GRCm39)	S265P	probably benign	Het
Or13p10	T	A	4: 118,522,808 (GRCm39)	F31L	possibly damaging	Het
Or4c121	T	C	2: 89,023,823 (GRCm39)	K185R	probably damaging	Het
Or4k49	T	C	2: 111,494,817 (GRCm39)	V82A	probably benign	Het
Or52e5	T	C	7: 104,719,514 (GRCm39)	L280P	probably damaging	Het
Or8g35	C	A	9: 39,381,112 (GRCm39)	K303N	probably benign	Het
Osgin2	T	C	4: 16,006,410 (GRCm39)	T95A	probably benign	Het
Parp4	T	C	14: 56,858,108 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,879,046 (GRCm39)	G867D	probably damaging	Het
Pcdhb22	T	C	18: 37,652,959 (GRCm39)	S476P	possibly damaging	Het
Phldb1	A	G	9: 44,623,197 (GRCm39)	I619T	probably damaging	Het
Ppp1r13l	C	T	7: 19,105,256 (GRCm39)	R343C	probably damaging	Het
Rab2b	T	A	14: 52,506,164 (GRCm39)		probably benign	Het
Rims2	A	T	15: 39,373,092 (GRCm39)	E972V	probably damaging	Het
Slc26a9	G	T	1: 131,686,228 (GRCm39)	C337F	probably benign	Het
Spty2d1	A	G	7: 46,647,751 (GRCm39)	S393P	probably damaging	Het
Stkld1	A	T	2: 26,831,093 (GRCm39)	N90I	possibly damaging	Het
Svep1	T	A	4: 58,053,126 (GRCm39)	R3406S	probably benign	Het
Svil	A	T	18: 5,040,171 (GRCm39)	D48V	probably benign	Het
Thsd7a	T	A	6: 12,555,081 (GRCm39)	K268*	probably null	Het
Tmc6	A	G	11: 117,661,326 (GRCm39)	L618P	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Ubn1	A	G	16: 4,899,791 (GRCm39)	H1101R	probably benign	Het
Upf2	G	A	2: 6,032,150 (GRCm39)	V899I	unknown	Het
Ush2a	A	T	1: 188,360,763 (GRCm39)	N2161I	probably damaging	Het
Usp25	A	T	16: 76,859,330 (GRCm39)	D276V	probably damaging	Het
Vmn2r68	T	A	7: 84,882,915 (GRCm39)	H279L	probably benign	Het
Vps13d	G	A	4: 144,818,850 (GRCm39)	R3019W	probably damaging	Het
Vsig10	A	T	5: 117,486,361 (GRCm39)	E423D	probably benign	Het
Wdfy2	T	A	14: 63,162,582 (GRCm39)	F95I	probably benign	Het
Xrn1	A	G	9: 95,915,763 (GRCm39)		probably null	Het
Zdhhc13	A	G	7: 48,461,149 (GRCm39)	T362A	possibly damaging	Het
Zfp984	C	T	4: 147,845,703 (GRCm39)	S2N	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
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
R8225:Ube2q2l	UTSW	6	136,378,110 (GRCm39)	missense	probably damaging	1.00
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'- GCAGTTCCATACACAATGCC -3'
(R):5'- TGCATCTTACGGACTGGACG -3'

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

Posted On

2018-05-24