Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03040:Ubald1'

408860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubald1

Ensembl Gene

ENSMUSG00000039568

Gene Name

UBA-like domain containing 1

Synonyms

1500031H01Rik, Fam100a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

IGL03040

Quality Score

Status

Chromosome

Chromosomal Location

4692642-4698179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4693626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 96 (S96R)

Ref Sequence

ENSEMBL: ENSMUSP00000037809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037843]

AlphaFold

Q6P3B2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037843
AA Change: S96R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037809
Gene: ENSMUSG00000039568
AA Change: S96R

Domain	Start	End	E-Value	Type
Pfam:UBA_4	11	53	6.8e-11	PFAM
low complexity region	63	73	N/A	INTRINSIC
low complexity region	92	109	N/A	INTRINSIC
low complexity region	120	159	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143873

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	A	6: 142,598,323 (GRCm39)	G672*	probably null	Het
Adamts19	T	A	18: 59,036,080 (GRCm39)	S422T	probably benign	Het
Anapc7	T	A	5: 122,571,450 (GRCm39)	L175*	probably null	Het
Atp13a2	T	C	4: 140,733,484 (GRCm39)	L986P	probably damaging	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bnip5	A	G	17: 29,134,176 (GRCm39)	M11T	probably benign	Het
Cldn5	A	G	16: 18,596,380 (GRCm39)	Y212C	probably damaging	Het
Dgki	C	A	6: 37,126,599 (GRCm39)		probably benign	Het
Evi5	A	G	5: 107,969,672 (GRCm39)	S80P	probably damaging	Het
Extl1	A	T	4: 134,087,940 (GRCm39)		probably benign	Het
Fam237b	C	A	5: 5,625,566 (GRCm39)	Y87*	probably null	Het
Fbxo38	T	C	18: 62,660,323 (GRCm39)	H296R	probably damaging	Het
Fras1	A	G	5: 96,857,960 (GRCm39)	I2085V	probably benign	Het
Gpd2	A	T	2: 57,245,805 (GRCm39)	E445V	probably benign	Het
Grm8	C	T	6: 28,126,122 (GRCm39)	M1I	probably null	Het
Hnf4g	T	A	3: 3,699,271 (GRCm39)		probably benign	Het
Hspg2	G	A	4: 137,289,136 (GRCm39)		probably null	Het
Kmt2c	T	C	5: 25,515,350 (GRCm39)	Q2831R	probably benign	Het
Nat10	C	A	2: 103,587,610 (GRCm39)		probably benign	Het
Pbx1	C	A	1: 168,255,515 (GRCm39)		probably benign	Het
Prkg2	C	T	5: 99,120,966 (GRCm39)		probably null	Het
Scn10a	T	A	9: 119,452,051 (GRCm39)	I1291F	probably damaging	Het
Sh3tc2	G	A	18: 62,122,481 (GRCm39)	G414D	probably benign	Het
Syn2	C	T	6: 115,240,926 (GRCm39)	T432I	possibly damaging	Het
Tnpo1	T	C	13: 98,996,463 (GRCm39)	E446G	probably damaging	Het
Topbp1	C	T	9: 103,205,866 (GRCm39)	L835F	possibly damaging	Het
Utp6	C	A	11: 79,826,939 (GRCm39)		probably benign	Het
Vmn1r19	C	A	6: 57,382,347 (GRCm39)	P300Q	unknown	Het
Vmn1r220	T	C	13: 23,367,952 (GRCm39)	D248G	possibly damaging	Het
Zglp1	T	A	9: 20,974,622 (GRCm39)	S189C	probably damaging	Het

Other mutations in Ubald1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1539:Ubald1	UTSW	16	4,694,261 (GRCm39)	missense	possibly damaging	0.51
R4108:Ubald1	UTSW	16	4,693,731 (GRCm39)	missense	probably benign	0.04
R4177:Ubald1	UTSW	16	4,693,745 (GRCm39)	splice site	probably benign
R5471:Ubald1	UTSW	16	4,693,705 (GRCm39)	missense	probably damaging	1.00
R6830:Ubald1	UTSW	16	4,697,584 (GRCm39)	missense	probably damaging	0.99
R9475:Ubald1	UTSW	16	4,693,433 (GRCm39)	missense	possibly damaging	0.53

Posted On

2016-08-02