Mutagenetix > Incidental Mutation

Incidental Mutation 'R7063:Ubald2'

548406

Institutional Source

Beutler Lab

Gene Symbol

Ubald2

Ensembl Gene

ENSMUSG00000050628

Gene Name

UBA-like domain containing 2

Synonyms

1110014K08Rik, D030012E24Rik, Fam100b

MMRRC Submission

045159-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R7063 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116324920-116329903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116325443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 60 (Q60R)

Ref Sequence

ENSEMBL: ENSMUSP00000058894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057676]

AlphaFold

Q8BQH4

Predicted Effect

probably benign
Transcript: ENSMUST00000057676
AA Change: Q60R

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058894
Gene: ENSMUSG00000050628
AA Change: Q60R

Domain	Start	End	E-Value	Type
Pfam:UBA_4	11	53	1.8e-11	PFAM

Meta Mutation Damage Score

0.1065

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	G	7: 16,299,038 (GRCm39)	V9A	probably benign	Het
Btbd6	A	G	12: 112,941,132 (GRCm39)	Y148C	probably damaging	Het
Casr	T	C	16: 36,314,936 (GRCm39)	I968V	probably benign	Het
Celf1	T	C	2: 90,843,189 (GRCm39)		probably null	Het
Chst2	G	T	9: 95,287,621 (GRCm39)	R242S	probably benign	Het
Clca3a1	T	A	3: 144,460,967 (GRCm39)	D228V	probably damaging	Het
Cwf19l2	A	G	9: 3,430,532 (GRCm39)	Y288C	probably benign	Het
Cyp2r1	A	G	7: 114,152,184 (GRCm39)	S49P	probably damaging	Het
Dnah5	A	G	15: 28,233,394 (GRCm39)	E251G	probably benign	Het
Eepd1	A	G	9: 25,394,332 (GRCm39)	R199G	possibly damaging	Het
Fat1	C	T	8: 45,493,812 (GRCm39)	T3986I	probably benign	Het
Gbp4	G	A	5: 105,266,314 (GRCm39)	R576C	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Gm6408	T	C	5: 146,420,594 (GRCm39)	I158T	probably benign	Het
Gpr89	C	G	3: 96,783,014 (GRCm39)	R312P	probably damaging	Het
Idh2	A	G	7: 79,745,432 (GRCm39)	V403A	probably damaging	Het
Lclat1	A	G	17: 73,546,986 (GRCm39)	E301G	possibly damaging	Het
Lgmn	A	G	12: 102,368,937 (GRCm39)	Y181H	probably damaging	Het
Lgr5	T	C	10: 115,292,639 (GRCm39)	Y417C	probably damaging	Het
Man1a	G	T	10: 53,906,840 (GRCm39)	N311K	probably damaging	Het
Nat10	G	A	2: 103,578,422 (GRCm39)	L228F	probably benign	Het
Or10d3	T	G	9: 39,461,411 (GRCm39)	Y252S	possibly damaging	Het
Or10v5	A	G	19: 11,805,548 (GRCm39)	F281L	probably damaging	Het
Or5b12b	A	G	19: 12,861,449 (GRCm39)	D68G	probably damaging	Het
Or5p55	C	A	7: 107,567,411 (GRCm39)	A269E	probably benign	Het
Pcmtd2	T	A	2: 181,496,776 (GRCm39)	Y130*	probably null	Het
Potefam3f	G	A	8: 20,479,013 (GRCm39)	C7Y		Het
Qrfprl	A	G	6: 65,418,387 (GRCm39)		probably benign	Het
Rapgef5	A	G	12: 117,652,864 (GRCm39)	D62G	possibly damaging	Het
Serpina3m	A	T	12: 104,357,726 (GRCm39)	I217L	probably benign	Het
Supt16	T	C	14: 52,409,505 (GRCm39)	R802G	possibly damaging	Het
Sypl2	A	T	3: 108,124,971 (GRCm39)	M130K	probably benign	Het
Tmtc2	A	T	10: 105,184,386 (GRCm39)	L503Q	probably damaging	Het
Vav1	C	T	17: 57,618,860 (GRCm39)	Q673*	probably null	Het
Vgll2	T	C	10: 51,904,072 (GRCm39)	S312P	probably benign	Het
Vmn1r191	C	T	13: 22,362,864 (GRCm39)	A297T	probably benign	Het
Vmn1r7	T	A	6: 57,001,418 (GRCm39)	I281F	possibly damaging	Het
Vmn2r108	T	C	17: 20,701,410 (GRCm39)	Y30C	probably damaging	Het
Vmn2r16	A	G	5: 109,511,650 (GRCm39)	N619S	probably damaging	Het
Vstm5	A	G	9: 15,150,549 (GRCm39)		probably benign	Het
Zfp7	A	G	15: 76,775,919 (GRCm39)	I654V	possibly damaging	Het
Zmat2	A	G	18: 36,929,627 (GRCm39)	N129S	probably null	Het

Other mutations in Ubald2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
ubiquity	UTSW	11	116,325,443 (GRCm39)	missense	probably benign	0.25
R0712:Ubald2	UTSW	11	116,325,401 (GRCm39)	missense	probably damaging	0.98
R1652:Ubald2	UTSW	11	116,325,178 (GRCm39)	missense	probably damaging	1.00
R6216:Ubald2	UTSW	11	116,325,211 (GRCm39)	missense	probably benign	0.44
R6477:Ubald2	UTSW	11	116,325,400 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACCAGGTCATGATCAACCAGTTC -3'
(R):5'- ATCCTCTGCTATCAGAATCGCAA -3'

Sequencing Primer
(F):5'- GATCAACCAGTTCGTGCTGG -3'
(R):5'- AAGCCGTCTTCCCTTCCTTC -3'

Posted On

2019-05-13