Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02260:Ubiad1'

286717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubiad1

Ensembl Gene

ENSMUSG00000047719

Gene Name

UbiA prenyltransferase domain containing 1

Synonyms

1200002M06Rik, Tere1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02260

Quality Score

Status

Chromosome

Chromosomal Location

148518952-148529217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148528564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 115 (D115G)

Ref Sequence

ENSEMBL: ENSMUSP00000058502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051633] [ENSMUST00000057580] [ENSMUST00000103221]

AlphaFold

Q9DC60

Predicted Effect

probably benign
Transcript: ENSMUST00000051633
AA Change: D115G

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058502
Gene: ENSMUSG00000047719
AA Change: D115G

Domain	Start	End	E-Value	Type
Pfam:UbiA	59	324	1.2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057580

SMART Domains

Protein: ENSMUSP00000054164
Gene: ENSMUSG00000028991

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	19	230	1e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082714

Predicted Effect

probably benign
Transcript: ENSMUST00000103221

SMART Domains

Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
low complexity region	179	191	N/A	INTRINSIC
low complexity region	277	288	N/A	INTRINSIC
low complexity region	774	790	N/A	INTRINSIC
DUF3385	854	1024	1.51e-93	SMART
low complexity region	1279	1300	N/A	INTRINSIC
Pfam:FAT	1513	1908	2.3e-134	PFAM
Rapamycin_bind	2015	2114	7.94e-61	SMART
PI3Kc	2183	2484	8.84e-121	SMART
FATC	2517	2549	2.11e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156686

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, reduced embryo size, failure to form the primitive streak, no mesoderm and inability to synthesize menaquinone 4. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,754,891 (GRCm39)	A663V	probably benign	Het
Atg2b	A	T	12: 105,602,699 (GRCm39)		probably benign	Het
B4galt6	T	C	18: 20,833,804 (GRCm39)	I194V	probably benign	Het
Caprin1	T	C	2: 103,609,714 (GRCm39)	Y188C	probably damaging	Het
Ccdc85a	A	G	11: 28,526,672 (GRCm39)	F284S	possibly damaging	Het
Ccdc88b	A	T	19: 6,832,717 (GRCm39)		probably benign	Het
Cox18	C	T	5: 90,365,384 (GRCm39)	V272I	possibly damaging	Het
Dars1	A	T	1: 128,299,898 (GRCm39)	M362K	probably benign	Het
Ddi1	A	T	9: 6,265,760 (GRCm39)	M203K	probably benign	Het
Dlg4	G	A	11: 69,933,093 (GRCm39)	G500R	probably damaging	Het
Ebf3	G	A	7: 136,807,919 (GRCm39)	P375S	probably damaging	Het
Eif5b	T	A	1: 38,084,537 (GRCm39)	L842M	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gm5581	T	C	6: 131,144,909 (GRCm39)		noncoding transcript	Het
Mapk10	A	T	5: 103,186,534 (GRCm39)	D29E	probably benign	Het
Mib2	C	T	4: 155,745,628 (GRCm39)	R61H	probably damaging	Het
Mki67	A	G	7: 135,303,697 (GRCm39)	S724P	probably benign	Het
Mtor	T	C	4: 148,622,758 (GRCm39)	I1946T	probably damaging	Het
Myh14	A	G	7: 44,260,995 (GRCm39)	L1873P	probably damaging	Het
Myom1	C	T	17: 71,415,310 (GRCm39)	Q1226*	probably null	Het
Neb	A	G	2: 52,095,668 (GRCm39)	L4858P	probably damaging	Het
Or51f5	A	T	7: 102,424,114 (GRCm39)	I128F	probably damaging	Het
Or5m9b	C	A	2: 85,905,816 (GRCm39)	T244K	possibly damaging	Het
Or5p76	T	C	7: 108,122,492 (GRCm39)	I222V	probably benign	Het
Pcdhb14	C	T	18: 37,583,086 (GRCm39)	H731Y	probably benign	Het
Prdm16	T	C	4: 154,412,744 (GRCm39)	N1087S	probably benign	Het
Prdm2	C	T	4: 142,861,157 (GRCm39)	G711D	probably damaging	Het
Proser1	G	A	3: 53,386,365 (GRCm39)	G749D	probably damaging	Het
Ptch1	A	T	13: 63,713,166 (GRCm39)		probably benign	Het
Pus10	A	T	11: 23,657,548 (GRCm39)	K233*	probably null	Het
Rasa2	A	G	9: 96,426,372 (GRCm39)	Y825H	probably benign	Het
Tbcd	T	C	11: 121,494,104 (GRCm39)	F969S	probably damaging	Het
Tbp	T	A	17: 15,724,878 (GRCm39)	S133T	probably damaging	Het
Tnks	C	T	8: 35,310,137 (GRCm39)	G1062D	probably damaging	Het
Tnrc6b	T	A	15: 80,764,372 (GRCm39)	S625T	probably damaging	Het
Triobp	T	C	15: 78,850,562 (GRCm39)	S239P	probably benign	Het
Uckl1	A	G	2: 181,211,381 (GRCm39)	S483P	probably damaging	Het
Vill	A	G	9: 118,887,509 (GRCm39)	D91G	probably benign	Het
Wdr62	C	A	7: 29,970,207 (GRCm39)	C200F	probably damaging	Het
Zfp341	G	A	2: 154,483,969 (GRCm39)	C586Y	possibly damaging	Het
Zfp687	G	A	3: 94,918,575 (GRCm39)	T399I	possibly damaging	Het
Zp1	G	T	19: 10,894,078 (GRCm39)		probably benign	Het
Zzz3	T	A	3: 152,157,720 (GRCm39)	D263E	probably benign	Het

Other mutations in Ubiad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Ubiad1	APN	4	148,520,814 (GRCm39)	missense	probably benign	0.33
R1935:Ubiad1	UTSW	4	148,528,468 (GRCm39)	missense	probably damaging	1.00
R1936:Ubiad1	UTSW	4	148,528,468 (GRCm39)	missense	probably damaging	1.00
R1937:Ubiad1	UTSW	4	148,528,468 (GRCm39)	missense	probably damaging	1.00
R1939:Ubiad1	UTSW	4	148,528,468 (GRCm39)	missense	probably damaging	1.00
R1940:Ubiad1	UTSW	4	148,528,468 (GRCm39)	missense	probably damaging	1.00
R3617:Ubiad1	UTSW	4	148,520,817 (GRCm39)	missense	probably benign	0.01
R4873:Ubiad1	UTSW	4	148,528,556 (GRCm39)	missense	possibly damaging	0.91
R4875:Ubiad1	UTSW	4	148,528,556 (GRCm39)	missense	possibly damaging	0.91
R5284:Ubiad1	UTSW	4	148,520,955 (GRCm39)	missense	probably damaging	1.00
R5343:Ubiad1	UTSW	4	148,520,892 (GRCm39)	missense	possibly damaging	0.90
R6271:Ubiad1	UTSW	4	148,521,083 (GRCm39)	nonsense	probably null
R6467:Ubiad1	UTSW	4	148,520,682 (GRCm39)	missense	possibly damaging	0.46
R6929:Ubiad1	UTSW	4	148,528,579 (GRCm39)	missense	probably damaging	1.00
R7881:Ubiad1	UTSW	4	148,528,726 (GRCm39)	missense	probably benign

Posted On

2015-04-16