Mutagenetix > Incidental Mutation

Incidental Mutation 'R1307:Uba52'

157831

Institutional Source

Beutler Lab

Gene Symbol

Uba52

Ensembl Gene

ENSMUSG00000090137

Gene Name

ubiquitin A-52 residue ribosomal protein fusion product 1

Synonyms

D8Ertd21e

MMRRC Submission

039373-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R1307 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

70960913-70963067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70961166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 68 (H68R)

Ref Sequence

ENSEMBL: ENSMUSP00000122797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008032] [ENSMUST00000075175] [ENSMUST00000081940] [ENSMUST00000093456] [ENSMUST00000121623] [ENSMUST00000124967] [ENSMUST00000125184] [ENSMUST00000129909] [ENSMUST00000140679] [ENSMUST00000165126] [ENSMUST00000135446] [ENSMUST00000138260] [ENSMUST00000136913]

AlphaFold

no structure available at present

PDB Structure

Crystal structure of GFP-Wrnip1 UBZ domain fusion protein in complex with ubiquitin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000008032

SMART Domains

Protein: ENSMUSP00000008032
Gene: ENSMUSG00000007888

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:Lep_receptor_Ig	41	127	5.7e-8	PFAM
FN3	138	223	2.11e0	SMART
FN3	238	323	1.5e-5	SMART
low complexity region	345	361	N/A	INTRINSIC
low complexity region	415	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075175

SMART Domains

Protein: ENSMUSP00000074670
Gene: ENSMUSG00000058833

Domain	Start	End	E-Value	Type
Pfam:DNA_repr_REX1B	29	128	1.5e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000081940
AA Change: H68R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080608
Gene: ENSMUSG00000090137
AA Change: H68R

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	128	4.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093456

SMART Domains

Protein: ENSMUSP00000091165
Gene: ENSMUSG00000055553

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	1.9e-40	PFAM
low complexity region	115	124	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121623
AA Change: H172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113804
Gene: ENSMUSG00000055553
AA Change: H172R

Domain	Start	End	E-Value	Type
Pfam:KxDL	14	99	3.3e-34	PFAM
UBQ	105	176	2.14e-36	SMART
Ribosomal_L40e	181	232	1.02e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124967
AA Change: H68R

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

SMART Domains

Protein: ENSMUSP00000122797
Gene: ENSMUSG00000090137
AA Change: H68R

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	96	5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125184
AA Change: H68R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120096
Gene: ENSMUSG00000090137
AA Change: H68R

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	128	4.5e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129909
AA Change: H68R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121149
Gene: ENSMUSG00000090137
AA Change: H68R

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Ribosomal_L40e	77	128	1.02e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140679
AA Change: H68R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123263
Gene: ENSMUSG00000090137
AA Change: H68R

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	128	4.5e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165126
AA Change: H68R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137461
Gene: ENSMUSG00000090137
AA Change: H68R

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	128	4.5e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135446
AA Change: H68R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123562
Gene: ENSMUSG00000090137
AA Change: H68R

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_L40e	77	128	4.5e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000138260
AA Change: H172R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123438
Gene: ENSMUSG00000055553
AA Change: H172R

Domain	Start	End	E-Value	Type
Pfam:KxDL	12	99	9.2e-40	PFAM
UBQ	105	176	2.14e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143598

Predicted Effect

probably benign
Transcript: ENSMUST00000127983

SMART Domains

Protein: ENSMUSP00000115614
Gene: ENSMUSG00000007888

Domain	Start	End	E-Value	Type
Blast:FN3	2	28	2e-12	BLAST
SCOP:d1eerb2	2	46	1e-8	SMART
low complexity region	50	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136913

SMART Domains

Protein: ENSMUSP00000120446
Gene: ENSMUSG00000058833

Domain	Start	End	E-Value	Type
Pfam:DNA_repr_REX1B	29	128	4.2e-28	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.6%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc1	A	T	10: 59,848,321 (GRCm39)	I83L	probably benign	Het
Bcl2a1b	T	C	9: 89,081,543 (GRCm39)	V44A	probably damaging	Het
Bdp1	T	C	13: 100,186,271 (GRCm39)	D1727G	possibly damaging	Het
Cabp1	A	G	5: 115,310,965 (GRCm39)	F294L	probably damaging	Het
Coq8b	T	A	7: 26,950,016 (GRCm39)	M365K	probably damaging	Het
Gk2	A	T	5: 97,603,268 (GRCm39)	D523E	probably benign	Het
Havcr1	C	T	11: 46,647,097 (GRCm39)	T177I	probably damaging	Het
Kdm4a	T	C	4: 118,032,839 (GRCm39)	T76A	probably benign	Het
Lama4	A	T	10: 38,946,028 (GRCm39)	I804F	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Pcdh10	A	G	3: 45,336,314 (GRCm39)	N876S	probably benign	Het
Polr3f	T	C	2: 144,375,113 (GRCm39)	V95A	probably damaging	Het
Ptk2	A	G	15: 73,163,895 (GRCm39)	V389A	probably benign	Het
Rhof	T	C	5: 123,258,378 (GRCm39)	E151G	probably damaging	Het
Slc25a28	T	C	19: 43,655,470 (GRCm39)	N135S	probably benign	Het
Sphk1	G	A	11: 116,426,928 (GRCm39)	V295I	probably benign	Het
Sv2b	G	T	7: 74,856,182 (GRCm39)	T36K	probably damaging	Het
Sybu	T	C	15: 44,538,786 (GRCm39)	E291G	probably damaging	Het
Tnc	T	C	4: 63,927,096 (GRCm39)	E810G	probably damaging	Het
Unc79	A	G	12: 103,036,335 (GRCm39)	N552S	probably damaging	Het
Ush2a	T	C	1: 188,090,164 (GRCm39)	C416R	probably damaging	Het
Ush2a	T	C	1: 188,184,037 (GRCm39)	V1447A	probably damaging	Het
Zfp985	C	T	4: 147,667,704 (GRCm39)	L191F	probably benign	Het

Other mutations in Uba52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0122:Uba52	UTSW	8	70,961,951 (GRCm39)	missense	probably damaging	1.00
R1470:Uba52	UTSW	8	70,962,206 (GRCm39)	missense	possibly damaging	0.90
R1470:Uba52	UTSW	8	70,962,206 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ACACCAATTACTGCTCCAGTGGATG -3'
(R):5'- TTGACTTGTGCTCTCACCAGACTTG -3'

Sequencing Primer
(F):5'- GTCACATGCCAGGTATGACC -3'
(R):5'- CAGACTTGTAAAGTTCCCAGGTG -3'

Posted On

2014-02-18