Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02898:Gfer'

363485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gfer

Ensembl Gene

ENSMUSG00000040888

Gene Name

growth factor, augmenter of liver regeneration

Synonyms

ERV1, Alr

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL02898

Quality Score

Status

Chromosome

Chromosomal Location

24912164-24915065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24914921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 41 (R41G)

Ref Sequence

ENSEMBL: ENSMUSP00000049186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019464] [ENSMUST00000046839] [ENSMUST00000126319]

AlphaFold

P56213

Predicted Effect

probably benign
Transcript: ENSMUST00000019464

SMART Domains

Protein: ENSMUSP00000019464
Gene: ENSMUSG00000019320

Domain	Start	End	E-Value	Type
PX	6	122	1.36e-2	SMART
SH3	160	218	1.55e0	SMART
SH3	234	289	1.8e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000046534

Predicted Effect

probably benign
Transcript: ENSMUST00000046839
AA Change: R41G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049186
Gene: ENSMUSG00000040888
AA Change: R41G

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC
low complexity region	48	54	N/A	INTRINSIC
Pfam:Evr1_Alr	97	189	2.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124864

Predicted Effect

probably benign
Transcript: ENSMUST00000126319

SMART Domains

Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688

Domain	Start	End	E-Value	Type
WD40	54	94	3.08e0	SMART
WD40	97	137	2.38e-6	SMART
WD40	140	181	3.85e-1	SMART
WD40	184	223	6.94e-8	SMART
WD40	237	275	7.36e1	SMART
WD40	278	320	3.07e1	SMART
WD40	323	363	1.78e0	SMART
WD40	365	404	1.17e-5	SMART
WD40	410	450	8.16e-5	SMART
WD40	468	507	5.18e-7	SMART
WD40	510	549	8.1e-9	SMART
WD40	552	591	8.55e-8	SMART
WD40	594	633	2.93e-6	SMART
low complexity region	637	650	N/A	INTRINSIC
Pfam:Utp13	654	788	3.7e-43	PFAM
low complexity region	792	800	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141095

Predicted Effect

probably benign
Transcript: ENSMUST00000130633

SMART Domains

Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688

Domain	Start	End	E-Value	Type
WD40	2	38	8.75e-5	SMART
WD40	41	80	8.1e-9	SMART
WD40	90	129	9.52e-6	SMART
WD40	132	171	2.93e-6	SMART
low complexity region	175	188	N/A	INTRINSIC
Pfam:Utp13	192	299	1e-30	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E9.5. Mice homozygous for a different knock-out allele are embryonic lethal, while heterozygotes display impaired mitochondrial biogenesis and decreased liver degeneration following partial hepatectomy or acute liver injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,178,065 (GRCm39)		probably benign	Het
Brd3	A	G	2: 27,349,753 (GRCm39)	S267P	possibly damaging	Het
Btaf1	A	G	19: 36,946,468 (GRCm39)	T425A	probably benign	Het
Caskin1	A	T	17: 24,721,383 (GRCm39)	E544D	probably benign	Het
Col20a1	C	T	2: 180,630,905 (GRCm39)	Q58*	probably null	Het
Eif2ak1	G	A	5: 143,826,270 (GRCm39)	V428I	probably damaging	Het
Fez2	A	G	17: 78,692,184 (GRCm39)	I345T	probably benign	Het
Focad	A	T	4: 88,310,234 (GRCm39)	M1388L	probably benign	Het
Gm9956	C	T	10: 56,621,350 (GRCm39)	S4L	unknown	Het
Krtap6-1	G	A	16: 88,828,643 (GRCm39)	G13D	unknown	Het
Megf8	A	G	7: 25,045,933 (GRCm39)	E1492G	possibly damaging	Het
Myh7	T	C	14: 55,221,197 (GRCm39)	I909V	probably damaging	Het
Or11g25	T	A	14: 50,723,643 (GRCm39)	S243T	probably damaging	Het
Or1e21	T	A	11: 73,344,561 (GRCm39)	H159L	probably damaging	Het
Otog	A	G	7: 45,959,562 (GRCm39)	E717G	probably damaging	Het
Pik3r4	A	G	9: 105,527,605 (GRCm39)	I319M	probably benign	Het
Piwil4	A	T	9: 14,617,583 (GRCm39)		probably benign	Het
Plekho1	T	A	3: 95,899,493 (GRCm39)	H100L	probably damaging	Het
Prr30	T	G	14: 101,435,917 (GRCm39)	D215A	probably benign	Het
Prss52	C	T	14: 64,351,115 (GRCm39)	A300V	possibly damaging	Het
Ralgps2	C	A	1: 156,645,314 (GRCm39)	K514N	probably benign	Het
Robo4	T	C	9: 37,319,472 (GRCm39)	I463T	probably damaging	Het
Sars1	A	T	3: 108,336,579 (GRCm39)	F268Y	probably damaging	Het
Sidt1	C	T	16: 44,102,858 (GRCm39)	R289Q	possibly damaging	Het
Slco1a8	T	A	6: 141,940,023 (GRCm39)	Y140F	probably benign	Het
Slco2a1	T	C	9: 102,956,805 (GRCm39)	V539A	probably damaging	Het
Snrnp200	A	G	2: 127,058,676 (GRCm39)		probably benign	Het
Spag17	A	G	3: 100,008,702 (GRCm39)	D1944G	probably benign	Het
Spata1	C	T	3: 146,181,094 (GRCm39)	R288Q	possibly damaging	Het
Tatdn3	T	C	1: 190,778,507 (GRCm39)	*233W	probably null	Het
Ttc3	T	A	16: 94,220,285 (GRCm39)	V536E	probably damaging	Het
V1rd19	A	C	7: 23,702,854 (GRCm39)	T107P	probably damaging	Het

Other mutations in Gfer

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Gfer	APN	17	24,914,903 (GRCm39)	missense	probably benign	0.01
R0242:Gfer	UTSW	17	24,913,277 (GRCm39)	missense	probably damaging	1.00
R0242:Gfer	UTSW	17	24,913,277 (GRCm39)	missense	probably damaging	1.00
R1640:Gfer	UTSW	17	24,914,337 (GRCm39)	missense	possibly damaging	0.95
R4898:Gfer	UTSW	17	24,914,274 (GRCm39)	missense	probably damaging	0.98
R5776:Gfer	UTSW	17	24,915,027 (GRCm39)	missense	probably benign	0.32
R7024:Gfer	UTSW	17	24,914,942 (GRCm39)	missense	probably damaging	1.00
R7203:Gfer	UTSW	17	24,914,836 (GRCm39)	missense	probably damaging	1.00
R7853:Gfer	UTSW	17	24,913,259 (GRCm39)	missense	probably damaging	1.00
R7854:Gfer	UTSW	17	24,913,259 (GRCm39)	missense	probably damaging	1.00
R7855:Gfer	UTSW	17	24,913,259 (GRCm39)	missense	probably damaging	1.00
R8807:Gfer	UTSW	17	24,914,846 (GRCm39)	missense	possibly damaging	0.59
X0020:Gfer	UTSW	17	24,914,227 (GRCm39)	critical splice donor site	probably null
Z1177:Gfer	UTSW	17	24,914,861 (GRCm39)	frame shift	probably null

Posted On

2015-12-18