Mutagenetix > Incidental Mutation

Incidental Mutation 'R1248:Ubl3'

152185

Institutional Source

Beutler Lab

Gene Symbol

Ubl3

Ensembl Gene

ENSMUSG00000001687

Gene Name

ubiquitin-like 3

Synonyms

MMRRC Submission

039315-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R1248 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

148441445-148489599 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 148443008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079324] [ENSMUST00000079324] [ENSMUST00000164904] [ENSMUST00000164904] [ENSMUST00000201595] [ENSMUST00000201595]

AlphaFold

Q9Z2M6

Predicted Effect

probably null
Transcript: ENSMUST00000079324

SMART Domains

Protein: ENSMUSP00000078303
Gene: ENSMUSG00000001687

Domain	Start	End	E-Value	Type
Pfam:Rad60-SLD_2	8	114	6.3e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000079324

SMART Domains

Protein: ENSMUSP00000078303
Gene: ENSMUSG00000001687

Domain	Start	End	E-Value	Type
Pfam:Rad60-SLD_2	8	114	6.3e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164904

SMART Domains

Protein: ENSMUSP00000131049
Gene: ENSMUSG00000001687

Domain	Start	End	E-Value	Type
Pfam:Rad60-SLD_2	8	114	1.7e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164904

SMART Domains

Protein: ENSMUSP00000131049
Gene: ENSMUSG00000001687

Domain	Start	End	E-Value	Type
Pfam:Rad60-SLD_2	8	114	1.7e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201139

Predicted Effect

probably null
Transcript: ENSMUST00000201595

SMART Domains

Protein: ENSMUSP00000144073
Gene: ENSMUSG00000001687

Domain	Start	End	E-Value	Type
Pfam:Rad60-SLD_2	8	114	6.3e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000201595

SMART Domains

Protein: ENSMUSP00000144073
Gene: ENSMUSG00000001687

Domain	Start	End	E-Value	Type
Pfam:Rad60-SLD_2	8	114	6.3e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202938

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,271,054 (GRCm39)	F863Y	probably damaging	Het
Akap12	A	G	10: 4,303,847 (GRCm39)	E219G	probably benign	Het
Akr1c20	G	A	13: 4,564,399 (GRCm39)	T38I	possibly damaging	Het
Ap5z1	C	A	5: 142,460,255 (GRCm39)	S511R	probably benign	Het
Arhgap11a	T	A	2: 113,664,447 (GRCm39)	H612L	possibly damaging	Het
Atp2b2	G	T	6: 113,794,153 (GRCm39)	S118Y	probably damaging	Het
Boc	A	T	16: 44,340,836 (GRCm39)	M38K	probably benign	Het
Ccdc171	A	T	4: 83,599,481 (GRCm39)	E773D	possibly damaging	Het
Clxn	A	G	16: 14,742,001 (GRCm39)	M212V	probably benign	Het
Dmtn	C	T	14: 70,850,098 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,832,887 (GRCm39)		probably benign	Het
Fam83b	T	C	9: 76,410,358 (GRCm39)	N184S	probably benign	Het
Fam98c	A	G	7: 28,852,265 (GRCm39)	M98T	probably damaging	Het
Fbn1	T	C	2: 125,143,529 (GRCm39)	K2867E	probably benign	Het
Fsip2	A	T	2: 82,820,107 (GRCm39)	E5280V	possibly damaging	Het
Fuom	T	C	7: 139,679,631 (GRCm39)		probably benign	Het
Gm3476	A	T	14: 6,118,512 (GRCm38)	S204T	probably benign	Het
Grhl3	A	G	4: 135,288,617 (GRCm39)	F23L	probably benign	Het
Il4i1	G	T	7: 44,489,213 (GRCm39)	R334L	probably damaging	Het
Ipo13	A	G	4: 117,758,228 (GRCm39)	S712P	probably damaging	Het
Lama4	G	T	10: 38,932,843 (GRCm39)	S573I	probably damaging	Het
Lrp11	A	G	10: 7,480,058 (GRCm39)	H371R	probably benign	Het
Mkln1	T	A	6: 31,466,303 (GRCm39)	I520N	probably damaging	Het
Nagpa	G	T	16: 5,016,480 (GRCm39)	C236*	probably null	Het
Nktr	A	G	9: 121,556,436 (GRCm39)	N38S	probably damaging	Het
Nlrp10	G	A	7: 108,525,088 (GRCm39)	R131C	probably benign	Het
Nxpe2	T	C	9: 48,231,211 (GRCm39)	D386G	possibly damaging	Het
Prpf39	T	A	12: 65,100,740 (GRCm39)		probably benign	Het
Retreg2	A	G	1: 75,121,755 (GRCm39)		probably benign	Het
S100a4	G	T	3: 90,513,084 (GRCm39)	S60I	possibly damaging	Het
Slc12a3	G	T	8: 95,059,905 (GRCm39)	G184C	probably damaging	Het
Slc25a46	C	T	18: 31,742,807 (GRCm39)	D20N	possibly damaging	Het
Smc3	A	G	19: 53,622,509 (GRCm39)	K695E	probably benign	Het
Speer2	A	T	16: 69,653,955 (GRCm39)		probably null	Het
Taar4	T	G	10: 23,836,936 (GRCm39)	V182G	possibly damaging	Het
Ttll1	C	G	15: 83,386,326 (GRCm39)	S93T	probably benign	Het
Vmn2r16	A	G	5: 109,508,643 (GRCm39)	N457S	probably benign	Het
Vmn2r72	T	C	7: 85,398,396 (GRCm39)	E528G	probably benign	Het
Zfp52	A	C	17: 21,780,311 (GRCm39)	E53A	probably damaging	Het

Other mutations in Ubl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Ubl3	APN	5	148,488,766 (GRCm39)	missense	probably benign
IGL03035:Ubl3	APN	5	148,442,947 (GRCm39)	makesense	probably null
R1899:Ubl3	UTSW	5	148,446,090 (GRCm39)	missense	possibly damaging	0.72
R4478:Ubl3	UTSW	5	148,448,787 (GRCm39)	missense	probably benign	0.01
R6662:Ubl3	UTSW	5	148,446,116 (GRCm39)	nonsense	probably null
R7404:Ubl3	UTSW	5	148,448,764 (GRCm39)	missense	probably damaging	0.97
R7687:Ubl3	UTSW	5	148,442,985 (GRCm39)	missense	possibly damaging	0.85
R9219:Ubl3	UTSW	5	148,443,270 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGCAGCACTTGCCTTCAGAC -3'
(R):5'- ATAGGCACTCATGCCTGCTTCCAC -3'

Sequencing Primer
(F):5'- GGACCACACTGAAAGTGTTCTTG -3'
(R):5'- GCTTCCACTTGGACATTTGG -3'

Posted On

2014-01-29