Mutagenetix > Incidental Mutation

Incidental Mutation 'R1237:Ubtd2'

152465

Institutional Source

Beutler Lab

Gene Symbol

Ubtd2

Ensembl Gene

ENSMUSG00000044949

Gene Name

ubiquitin domain containing 2

Synonyms

9630054F20Rik

MMRRC Submission

039304-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R1237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32405370-32466687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32466125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 115 (R115W)

Ref Sequence

ENSEMBL: ENSMUSP00000056765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051053]

AlphaFold

Q6PGH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000051053
AA Change: R115W

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

SMART Domains

Protein: ENSMUSP00000056765
Gene: ENSMUSG00000044949
AA Change: R115W

Domain	Start	End	E-Value	Type
Pfam:UBD	28	132	4e-42	PFAM
UBQ	152	223	3.24e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 105,096,223 (GRCm39)	T500A	probably damaging	Het
Amz1	A	T	5: 140,727,039 (GRCm39)	M1L	probably damaging	Het
Angptl1	T	A	1: 156,686,154 (GRCm39)	N413K	probably damaging	Het
Ankrd13b	T	C	11: 77,365,400 (GRCm39)	T70A	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccdc174	C	T	6: 91,867,768 (GRCm39)		probably benign	Het
Ccnc	T	A	4: 21,730,457 (GRCm39)	F31L	probably benign	Het
Celsr1	A	C	15: 85,788,175 (GRCm39)	S2692R	probably benign	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Ddhd1	A	T	14: 45,839,107 (GRCm39)	D65E	probably benign	Het
Dync1h1	A	G	12: 110,632,393 (GRCm39)	N4504S	probably benign	Het
Enthd1	A	G	15: 80,418,799 (GRCm39)	S167P	probably damaging	Het
Fat1	A	T	8: 45,497,316 (GRCm39)	Y4267F	probably damaging	Het
Hectd4	C	T	5: 121,459,570 (GRCm39)	A813V	possibly damaging	Het
Ibtk	T	C	9: 85,602,801 (GRCm39)	S735G	probably benign	Het
Itga4	A	G	2: 79,109,490 (GRCm39)	I230V	probably null	Het
Kcnh8	A	T	17: 53,200,988 (GRCm39)	Q474L	probably damaging	Het
Kcnh8	G	T	17: 53,200,989 (GRCm39)	Q474H	probably damaging	Het
Mib1	C	T	18: 10,768,149 (GRCm39)	T466I	probably damaging	Het
Or12d12	T	A	17: 37,611,156 (GRCm39)	R52S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or2l5	A	C	16: 19,334,375 (GRCm39)	Y4D	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Prdx6b	A	G	2: 80,123,520 (GRCm39)	I110V	probably benign	Het
Prf1	A	C	10: 61,139,428 (GRCm39)	D462A	probably benign	Het
Rps6ka5	T	C	12: 100,541,964 (GRCm39)	D391G	possibly damaging	Het
Scn7a	A	T	2: 66,510,639 (GRCm39)	N1254K	probably damaging	Het
Skor2	A	T	18: 76,963,827 (GRCm39)	K924*	probably null	Het
Slc22a21	A	G	11: 53,870,598 (GRCm39)	I29T	probably benign	Het
Tas2r140	T	C	6: 133,032,171 (GRCm39)	T196A	probably benign	Het
Thrap3	A	G	4: 126,073,862 (GRCm39)	S295P	probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Unc93b1	A	G	19: 3,985,228 (GRCm39)	E12G	possibly damaging	Het
Vgll3	T	A	16: 65,636,459 (GRCm39)	Y203*	probably null	Het
Vmn1r212	G	A	13: 23,067,638 (GRCm39)	Q232*	probably null	Het
Vmn2r107	T	A	17: 20,576,947 (GRCm39)	L315*	probably null	Het
Vmn2r84	T	A	10: 130,223,725 (GRCm39)		probably null	Het
Washc5	A	G	15: 59,210,757 (GRCm39)		probably benign	Het

Other mutations in Ubtd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Ubtd2	APN	11	32,449,262 (GRCm39)	missense	probably benign	0.44
IGL02528:Ubtd2	APN	11	32,449,249 (GRCm39)	nonsense	probably null
R0049:Ubtd2	UTSW	11	32,449,224 (GRCm39)	critical splice acceptor site	probably null
R0049:Ubtd2	UTSW	11	32,449,223 (GRCm39)	critical splice acceptor site	probably null
R1445:Ubtd2	UTSW	11	32,466,125 (GRCm39)	missense	probably damaging	1.00
R4012:Ubtd2	UTSW	11	32,449,260 (GRCm39)	missense	probably benign	0.19
R4452:Ubtd2	UTSW	11	32,449,406 (GRCm39)	missense	probably damaging	1.00
R5057:Ubtd2	UTSW	11	32,466,320 (GRCm39)	missense	probably damaging	1.00
R6289:Ubtd2	UTSW	11	32,466,177 (GRCm39)	missense	probably damaging	1.00
R8503:Ubtd2	UTSW	11	32,449,267 (GRCm39)	missense	possibly damaging	0.77
R9028:Ubtd2	UTSW	11	32,449,432 (GRCm39)	missense	possibly damaging	0.56
R9521:Ubtd2	UTSW	11	32,449,432 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TGTCTGCCAGAGTCCTCTTAGAGC -3'
(R):5'- ATCTTGGAAGAAGGCAAGTCCAGC -3'

Sequencing Primer
(F):5'- GAGCTTTTGTCTTGGCTTTCC -3'
(R):5'- AGCTTCATCTTATCCGTGAGAG -3'

Posted On

2014-01-29