Mutagenetix > Incidental Mutation

Incidental Mutation 'R4452:Ubtd2'

329017

Institutional Source

Beutler Lab

Gene Symbol

Ubtd2

Ensembl Gene

ENSMUSG00000044949

Gene Name

ubiquitin domain containing 2

Synonyms

9630054F20Rik

MMRRC Submission

041713-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R4452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32405370-32466687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32449406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 84 (N84K)

Ref Sequence

ENSEMBL: ENSMUSP00000056765 (fasta)

Gene Model

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

AlphaFold

Q6PGH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000051053
AA Change: N84K

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

SMART Domains

Protein: ENSMUSP00000056765
Gene: ENSMUSG00000044949
AA Change: N84K

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

Meta Mutation Damage Score

0.0637

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,297,797 (GRCm39)	T145A	possibly damaging	Het
Adgra1	G	T	7: 139,432,437 (GRCm39)	A92S	probably benign	Het
Aim2	A	G	1: 173,283,010 (GRCm39)	T31A	possibly damaging	Het
Cd46	G	A	1: 194,767,668 (GRCm39)	A131V	possibly damaging	Het
Cdc27	A	T	11: 104,408,221 (GRCm39)	M563K	probably benign	Het
Chd9	A	T	8: 91,704,308 (GRCm39)	N721I	probably damaging	Het
Cnn2	A	G	10: 79,827,276 (GRCm39)	D49G	probably benign	Het
Cul1	T	A	6: 47,485,923 (GRCm39)	Y323*	probably null	Het
D5Ertd579e	A	G	5: 36,773,814 (GRCm39)	W194R	probably damaging	Het
Dhx15	G	A	5: 52,324,074 (GRCm39)	P406L	probably benign	Het
Dnah9	C	T	11: 65,917,908 (GRCm39)	A2249T	probably damaging	Het
Dppa4	T	A	16: 48,109,699 (GRCm39)	D106E	probably benign	Het
Gja10	A	G	4: 32,601,313 (GRCm39)	V357A	probably benign	Het
Gm20481	T	G	17: 35,191,109 (GRCm39)		probably benign	Het
Grxcr2	T	C	18: 42,119,609 (GRCm39)	N244D	probably damaging	Het
Klk1b11	T	A	7: 43,645,335 (GRCm39)	F3I	probably damaging	Het
Mid1	T	C	X: 168,710,421 (GRCm39)	V139A	possibly damaging	Het
Mycbp2	T	C	14: 103,393,094 (GRCm39)	K3046E	probably damaging	Het
Nfasc	T	C	1: 132,562,409 (GRCm39)	N122S	probably damaging	Het
Or11j4	A	T	14: 50,630,369 (GRCm39)	Y52F	probably benign	Het
Or4c124	T	A	2: 89,155,597 (GRCm39)	D309V	possibly damaging	Het
Or52ac1	T	A	7: 104,245,846 (GRCm39)	M181L	probably damaging	Het
Or52i2	T	C	7: 102,319,256 (GRCm39)	V43A	probably benign	Het
Or8d1b	T	C	9: 38,887,382 (GRCm39)	S137P	probably benign	Het
Or8h9	C	T	2: 86,789,043 (GRCm39)	G253D	probably damaging	Het
P2ry10b	C	T	X: 106,214,724 (GRCm39)	T28I	probably damaging	Het
Pdxdc1	T	C	16: 13,654,990 (GRCm39)	Y675C	possibly damaging	Het
Plcl1	A	G	1: 55,736,045 (GRCm39)	N462S	probably benign	Het
Ptf1a	G	T	2: 19,451,092 (GRCm39)	A141S	possibly damaging	Het
Pzp	A	G	6: 128,468,203 (GRCm39)	L1028P	probably damaging	Het
Qrsl1	A	G	10: 43,758,158 (GRCm39)	S312P	probably damaging	Het
Sars2	A	G	7: 28,449,518 (GRCm39)	T349A	probably benign	Het
Scarb1	A	T	5: 125,377,409 (GRCm39)	F208I	probably damaging	Het
Scn8a	A	G	15: 100,854,972 (GRCm39)	N153S	possibly damaging	Het
Sema4c	A	T	1: 36,592,837 (GRCm39)	V127D	probably benign	Het
Smg6	C	G	11: 74,880,967 (GRCm39)	S931C	probably benign	Het
Trpm2	A	T	10: 77,759,427 (GRCm39)	L1119Q	probably damaging	Het
Ugt2b35	A	T	5: 87,151,237 (GRCm39)	H281L	probably damaging	Het
Umodl1	T	C	17: 31,213,789 (GRCm39)		probably null	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
R1237:Ubtd2	UTSW	11	32,466,125 (GRCm39)	missense	probably damaging	1.00
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
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'- GGTCGTAACCAGCCTTTGAAAA -3'
(R):5'- GCAAATGTTCTCTTTTCTGAGATTAAG -3'

Sequencing Primer
(F):5'- CTTTGAAAAAGGAGAAACCAAAATGG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2015-07-21