Mutagenetix > Incidental Mutation

Incidental Mutation 'R5776:Gfer'

501949

Institutional Source

Beutler Lab

Gene Symbol

Gfer

Ensembl Gene

ENSMUSG00000040888

Gene Name

growth factor, augmenter of liver regeneration

Synonyms

ERV1, Alr

MMRRC Submission

043375-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R5776 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24912164-24915065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24915027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 5 (S5R)

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: S5R

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049186
Gene: ENSMUSG00000040888
AA Change: S5R

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: ENSMUST00000150313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150132

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152527

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,107,649 (GRCm39)	M378K	possibly damaging	Het
Abca17	A	G	17: 24,514,132 (GRCm39)	V857A	probably benign	Het
Abca9	C	T	11: 109,998,286 (GRCm39)		probably null	Het
Adam22	T	C	5: 8,177,361 (GRCm39)	K583E	probably benign	Het
Akr1c13	T	C	13: 4,244,186 (GRCm39)	F80L	probably damaging	Het
Apob	A	T	12: 8,056,149 (GRCm39)	I1511F	possibly damaging	Het
Ccdc168	T	C	1: 44,095,665 (GRCm39)	E1811G	possibly damaging	Het
Cfh	C	A	1: 140,071,761 (GRCm39)	R291I	possibly damaging	Het
Col1a1	C	T	11: 94,840,550 (GRCm39)	S1114F	unknown	Het
Ctsj	T	C	13: 61,150,956 (GRCm39)	D168G	probably damaging	Het
Erf	T	C	7: 24,945,534 (GRCm39)	D79G	probably damaging	Het
Extl1	T	C	4: 134,085,083 (GRCm39)	N629S	possibly damaging	Het
Fbxo9	T	C	9: 78,002,469 (GRCm39)	E204G	probably damaging	Het
Fdx2	C	A	9: 20,984,778 (GRCm39)	V9L	possibly damaging	Het
Gm15931	A	T	7: 4,284,564 (GRCm39)		noncoding transcript	Het
Gm6309	T	A	5: 146,105,691 (GRCm39)	I158F	possibly damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hacl1	A	T	14: 31,344,828 (GRCm39)	N234K	possibly damaging	Het
Hcn3	C	T	3: 89,055,412 (GRCm39)	A612T	probably benign	Het
Hectd1	T	A	12: 51,810,897 (GRCm39)	E1679D	possibly damaging	Het
Hipk4	T	C	7: 27,228,405 (GRCm39)	L285P	probably damaging	Het
Igsf3	G	A	3: 101,332,796 (GRCm39)	V25I	probably benign	Het
Jade1	A	G	3: 41,568,227 (GRCm39)	H765R	probably benign	Het
Kcnv1	T	C	15: 44,977,963 (GRCm39)	D25G	unknown	Het
Klhl3	A	G	13: 58,152,998 (GRCm39)	S586P	probably benign	Het
L3mbtl2	A	G	15: 81,569,072 (GRCm39)	D582G	probably damaging	Het
Matn2	G	A	15: 34,431,765 (GRCm39)	C835Y	probably damaging	Het
Naa15	A	C	3: 51,367,447 (GRCm39)	D490A	probably damaging	Het
Nab2	T	A	10: 127,500,198 (GRCm39)	Y298F	probably damaging	Het
Nipsnap1	T	A	11: 4,838,919 (GRCm39)	M115K	probably benign	Het
Nlrp5-ps	T	C	7: 14,326,649 (GRCm39)		noncoding transcript	Het
Nol4l	T	G	2: 153,259,741 (GRCm39)	Q211P	probably damaging	Het
Oga	T	C	19: 45,760,363 (GRCm39)	E265G	probably damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Or6k14	A	T	1: 173,927,339 (GRCm39)	H105L	probably damaging	Het
Pkhd1	T	C	1: 20,279,409 (GRCm39)	K2970E	possibly damaging	Het
Plin4	T	C	17: 56,411,983 (GRCm39)	T683A	probably damaging	Het
Ppm1g	T	C	5: 31,362,454 (GRCm39)	D282G	probably benign	Het
Ppp6r3	A	G	19: 3,576,901 (GRCm39)	S10P	possibly damaging	Het
Raph1	G	A	1: 60,529,315 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,268,325 (GRCm39)	V935A	possibly damaging	Het
Reg4	T	A	3: 98,140,344 (GRCm39)	D108E	possibly damaging	Het
Saraf	T	A	8: 34,632,604 (GRCm39)	Y228N	probably damaging	Het
Sctr	T	C	1: 119,984,137 (GRCm39)	S357P	probably damaging	Het
Sec22b	A	T	3: 97,821,884 (GRCm39)	N139Y	probably damaging	Het
Sgsm1	T	A	5: 113,398,823 (GRCm39)	I1037F	probably damaging	Het
Skint5	A	C	4: 113,620,700 (GRCm39)	S671R	unknown	Het
Slc38a3	C	A	9: 107,535,948 (GRCm39)	E62*	probably null	Het
Slfn14	C	T	11: 83,174,425 (GRCm39)	E189K	probably damaging	Het
Sox21	A	G	14: 118,472,656 (GRCm39)	L131P	probably damaging	Het
Stip1	A	G	19: 6,999,393 (GRCm39)		probably null	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Susd1	T	C	4: 59,315,363 (GRCm39)		probably benign	Het
Tdrd7	T	A	4: 46,005,689 (GRCm39)	D498E	probably benign	Het
Tln2	C	T	9: 67,165,532 (GRCm39)	E1053K	probably damaging	Het
Trav6-4	A	G	14: 53,692,211 (GRCm39)	D103G	probably damaging	Het
Txndc15	A	G	13: 55,865,920 (GRCm39)	E128G	probably benign	Het
Vmn2r22	A	T	6: 123,614,673 (GRCm39)	W306R	probably damaging	Het
Yjefn3	A	T	8: 70,342,121 (GRCm39)	L33Q	probably damaging	Het
Zfp641	T	C	15: 98,186,891 (GRCm39)	D244G	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
IGL02898:Gfer	APN	17	24,914,921 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CATCCACGACTTGAAGTCCACG -3'
(R):5'- ACACACTTCACATCTGCCGG -3'

Sequencing Primer
(F):5'- ACTTGAAGTCCACGCAGGC -3'
(R):5'- GTCACCAGGCGCAAGAGTAC -3'

Posted On

2018-01-23