Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02121:Ube2q1'

280591

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2q1

Ensembl Gene

ENSMUSG00000042572

Gene Name

ubiquitin-conjugating enzyme E2Q family member 1

Synonyms

2310012M18Rik, PRO3094, 1110002C01Rik, NICE-5

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

IGL02121

Quality Score

Status

Chromosome

Chromosomal Location

89680923-89691307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89687769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 111 (N111K)

Ref Sequence

ENSEMBL: ENSMUSP00000143422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038356] [ENSMUST00000196726]

AlphaFold

Q7TSS2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038356
AA Change: N280K

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037939
Gene: ENSMUSG00000042572
AA Change: N280K

Domain	Start	End	E-Value	Type
low complexity region	2	39	N/A	INTRINSIC
Blast:RWD	43	156	1e-42	BLAST
low complexity region	183	202	N/A	INTRINSIC
Blast:UBCc	203	243	8e-13	BLAST
UBCc	254	415	2.8e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196726
AA Change: N111K

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143422
Gene: ENSMUSG00000042572
AA Change: N111K

Domain	Start	End	E-Value	Type
low complexity region	14	33	N/A	INTRINSIC
Blast:UBCc	34	74	1e-13	BLAST
UBCc	85	246	2.8e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199427

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female-specific pleiotropic reproductive defects and partial embryonic lethality at implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	A	T	13: 97,159,038 (GRCm39)	V122D	unknown	Het
4930579F01Rik	T	G	3: 137,870,134 (GRCm39)	Y199S	possibly damaging	Het
Abca6	T	A	11: 110,073,750 (GRCm39)	I1434F	probably benign	Het
Acsm1	T	C	7: 119,257,635 (GRCm39)	V467A	possibly damaging	Het
Alg3	T	C	16: 20,425,285 (GRCm39)	T260A	possibly damaging	Het
Aoc1	A	G	6: 48,883,254 (GRCm39)		probably null	Het
Ap5b1	C	T	19: 5,620,815 (GRCm39)	T745I	possibly damaging	Het
Atp6v1c2	T	G	12: 17,341,441 (GRCm39)	K272Q	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cert1	T	G	13: 96,735,982 (GRCm39)	Y181D	probably benign	Het
Clcn7	C	T	17: 25,372,058 (GRCm39)	A426V	possibly damaging	Het
Clec14a	T	C	12: 58,315,223 (GRCm39)	E133G	probably damaging	Het
Dst	T	A	1: 34,267,738 (GRCm39)	V2720E	probably damaging	Het
Efr3a	C	T	15: 65,742,999 (GRCm39)		probably benign	Het
Fam83g	T	C	11: 61,575,609 (GRCm39)	S84P	probably benign	Het
Gm7251	T	C	13: 49,959,382 (GRCm39)		noncoding transcript	Het
Gnptab	T	G	10: 88,265,323 (GRCm39)	S312A	possibly damaging	Het
Grap2	C	A	15: 80,532,076 (GRCm39)	S230R	possibly damaging	Het
Grm6	T	A	11: 50,750,483 (GRCm39)	C549S	probably damaging	Het
Gtf3c1	A	T	7: 125,245,903 (GRCm39)	L1504*	probably null	Het
Iars1	A	G	13: 49,878,172 (GRCm39)	M899V	probably benign	Het
Il1rl1	T	A	1: 40,481,463 (GRCm39)		probably benign	Het
Kcna4	T	C	2: 107,126,963 (GRCm39)	Y566H	possibly damaging	Het
Kcnn2	T	C	18: 45,694,340 (GRCm39)	I175T	probably damaging	Het
Kcnt1	C	T	2: 25,791,877 (GRCm39)	T609I	probably damaging	Het
Kif3b	A	G	2: 153,159,194 (GRCm39)	R332G	probably damaging	Het
Mansc1	T	C	6: 134,598,800 (GRCm39)	D39G	probably damaging	Het
Med12	T	C	X: 100,331,948 (GRCm39)		probably benign	Het
Mmp1b	G	T	9: 7,384,935 (GRCm39)	T238K	probably benign	Het
Nav3	A	G	10: 109,594,897 (GRCm39)	S1435P	probably damaging	Het
Npc1l1	A	G	11: 6,178,157 (GRCm39)	S418P	probably benign	Het
Or14j1	T	C	17: 38,146,832 (GRCm39)	V314A	probably benign	Het
Or2ab1	T	C	11: 58,488,408 (GRCm39)	V62A	possibly damaging	Het
Or3a1b	A	G	11: 74,012,113 (GRCm39)		probably benign	Het
Or52a24	A	G	7: 103,381,676 (GRCm39)	Y181C	probably damaging	Het
Or52h1	A	C	7: 103,829,432 (GRCm39)	M61R	probably damaging	Het
Or6ae1	G	T	7: 139,742,607 (GRCm39)	D85E	probably benign	Het
Or8b3b	T	C	9: 38,584,711 (GRCm39)	T23A	probably damaging	Het
Otoa	A	G	7: 120,721,247 (GRCm39)	T421A	probably benign	Het
Otulin	G	A	15: 27,608,823 (GRCm39)	A42V	probably damaging	Het
Pcdhb1	T	A	18: 37,398,838 (GRCm39)	V263E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Phip	A	T	9: 82,775,423 (GRCm39)	V1053D	probably damaging	Het
Pkd1	G	A	17: 24,794,901 (GRCm39)	R2196H	probably benign	Het
Plin4	T	A	17: 56,409,131 (GRCm39)	Q1363L	probably damaging	Het
Pp2d1	C	A	17: 53,814,949 (GRCm39)	V592L	probably damaging	Het
Pramel51	T	C	12: 88,145,242 (GRCm39)	D28G	possibly damaging	Het
Prkdc	T	G	16: 15,535,048 (GRCm39)	M1649R	probably benign	Het
Ptk2b	T	C	14: 66,450,931 (GRCm39)	K12E	probably benign	Het
Rars2	G	A	4: 34,657,219 (GRCm39)	V522I	probably damaging	Het
Rpgrip1	T	A	14: 52,384,831 (GRCm39)	N646K	possibly damaging	Het
Sars2	A	G	7: 28,451,950 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,316 (GRCm39)	T227A	possibly damaging	Het
Smc1b	T	C	15: 84,982,186 (GRCm39)	T703A	probably benign	Het
Stk32a	G	T	18: 43,446,572 (GRCm39)	D341Y	probably benign	Het
Thap11	T	C	8: 106,582,546 (GRCm39)	V185A	possibly damaging	Het
Ttll10	C	A	4: 156,132,890 (GRCm39)	V65F	probably benign	Het
Upf2	C	A	2: 6,031,134 (GRCm39)		probably benign	Het
Utp25	A	T	1: 192,800,586 (GRCm39)	D411E	probably benign	Het
Vasp	T	A	7: 18,991,637 (GRCm39)		probably benign	Het
Vmn2r104	C	T	17: 20,262,056 (GRCm39)	W358*	probably null	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wdfy3	C	T	5: 102,046,376 (GRCm39)	G1826R	possibly damaging	Het
Wdr7	T	A	18: 63,910,616 (GRCm39)	Y669*	probably null	Het
Wdr72	T	A	9: 74,189,011 (GRCm39)		probably benign	Het

Other mutations in Ube2q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Ube2q1	APN	3	89,688,681 (GRCm39)	missense	probably damaging	1.00
R0165:Ube2q1	UTSW	3	89,683,460 (GRCm39)	missense	probably damaging	1.00
R1680:Ube2q1	UTSW	3	89,683,483 (GRCm39)	missense	probably benign	0.01
R2072:Ube2q1	UTSW	3	89,686,878 (GRCm39)	critical splice donor site	probably null
R3548:Ube2q1	UTSW	3	89,688,383 (GRCm39)	missense	probably damaging	1.00
R4932:Ube2q1	UTSW	3	89,686,790 (GRCm39)	nonsense	probably null
R5472:Ube2q1	UTSW	3	89,684,548 (GRCm39)	missense	probably benign	0.00
R5902:Ube2q1	UTSW	3	89,683,487 (GRCm39)	nonsense	probably null
R6161:Ube2q1	UTSW	3	89,688,667 (GRCm39)	splice site	probably null
R7303:Ube2q1	UTSW	3	89,683,898 (GRCm39)	missense	possibly damaging	0.91
R8490:Ube2q1	UTSW	3	89,681,308 (GRCm39)	missense	probably benign
R8671:Ube2q1	UTSW	3	89,683,385 (GRCm39)	missense	probably damaging	1.00
R9558:Ube2q1	UTSW	3	89,686,766 (GRCm39)	missense	probably benign	0.01
RF022:Ube2q1	UTSW	3	89,688,200 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16