Mutagenetix > Incidental Mutation

Incidental Mutation 'R1231:Urm1'

152285

Institutional Source

Beutler Lab

Gene Symbol

Urm1

Ensembl Gene

ENSMUSG00000069020

Gene Name

ubiquitin related modifier 1

Synonyms

2900073H19Rik

MMRRC Submission

039300-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29717401-29735008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29722711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 15 (A15S)

Ref Sequence

ENSEMBL: ENSMUSP00000088676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091142]

AlphaFold

Q9D2P4

PDB Structure

Solution Structure of Mouse Hypothetical Protein 2900073H19RIK [SOLUTION NMR]
Solution Structure of Ubiquitin like protein from Mus Musculus [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000091142
AA Change: A15S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088676
Gene: ENSMUSG00000069020
AA Change: A15S

Domain	Start	End	E-Value	Type
Pfam:Urm1	6	101	2.1e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156944

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	C	T	10: 50,699,756 (GRCm39)	P1860S	probably damaging	Het
Cabp5	T	C	7: 13,139,350 (GRCm39)	I125T	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Dock9	A	T	14: 121,813,362 (GRCm39)	M1522K	possibly damaging	Het
Fcrl5	A	G	3: 87,349,486 (GRCm39)	H87R	probably benign	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Itgae	C	T	11: 73,010,205 (GRCm39)	T565I	probably benign	Het
Mocos	G	T	18: 24,812,758 (GRCm39)	A551S	probably benign	Het
Mtmr9	A	T	14: 63,765,640 (GRCm39)	N418K	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or2t1	A	T	14: 14,328,515 (GRCm38)	M135L	probably benign	Het
Psg16	T	A	7: 16,829,230 (GRCm39)	Y271*	probably null	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rnf220	A	T	4: 117,347,081 (GRCm39)	S110R	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
St8sia5	T	C	18: 77,320,502 (GRCm39)	Y49H	probably damaging	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het

Other mutations in Urm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1712:Urm1	UTSW	2	29,731,437 (GRCm39)	missense	probably damaging	1.00
R9484:Urm1	UTSW	2	29,732,760 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGAAAATGGCTTCTCCCCGTC -3'
(R):5'- TTTGCCTTGCTACCAGCCACAG -3'

Sequencing Primer
(F):5'- agctgtcttcagacacacc -3'
(R):5'- GCAACCCAAACTATCTCCACTTAC -3'

Posted On

2014-01-29