Incidental Mutation 'IGL01528:Gfer'
ID 89651
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: 0.947) question?
Stock # IGL01528
Quality Score
Status
Chromosome 17
Chromosomal Location 24912164-24915065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24914903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 47 (T47S)
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

DomainStartEndE-ValueType
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: T47S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000049186
Gene: ENSMUSG00000040888
AA Change: T47S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000141095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152527
Predicted Effect probably benign
Transcript: ENSMUST00000130633
SMART Domains Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688

DomainStartEndE-ValueType
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,451,190 (GRCm39) probably benign Het
Cdc45 A G 16: 18,630,311 (GRCm39) F2S probably damaging Het
Cdon A G 9: 35,381,403 (GRCm39) R598G possibly damaging Het
Cemip2 T C 19: 21,812,909 (GRCm39) V1038A possibly damaging Het
Dusp22 C T 13: 30,889,611 (GRCm39) T64I probably benign Het
Gfra2 T C 14: 71,203,738 (GRCm39) S296P possibly damaging Het
Gjb2 G A 14: 57,338,125 (GRCm39) L28F probably damaging Het
Gm17782 A G 17: 36,472,682 (GRCm39) probably benign Het
Gm2832 T C 14: 41,003,670 (GRCm39) V167A unknown Het
Gpr155 A G 2: 73,192,767 (GRCm39) probably null Het
Gpr45 A G 1: 43,072,383 (GRCm39) H342R probably benign Het
Gsdmd A T 15: 75,735,354 (GRCm39) T33S possibly damaging Het
Hal T A 10: 93,333,455 (GRCm39) L341Q probably damaging Het
Igfbp7 T G 5: 77,499,179 (GRCm39) D273A probably damaging Het
Kdm2a T C 19: 4,393,083 (GRCm39) D424G probably benign Het
Kif13a C T 13: 47,018,313 (GRCm39) probably benign Het
Krt35 A T 11: 99,985,420 (GRCm39) L207Q probably damaging Het
Lrp1b A T 2: 40,809,194 (GRCm39) D2572E probably damaging Het
Lrp2 A G 2: 69,322,804 (GRCm39) V1848A probably damaging Het
Myo9a T C 9: 59,686,957 (GRCm39) Y21H probably damaging Het
Ncan G T 8: 70,562,731 (GRCm39) A509E probably benign Het
Or2q1 T C 6: 42,795,208 (GRCm39) S268P probably damaging Het
Pde11a G A 2: 76,025,300 (GRCm39) probably benign Het
Phf19 G T 2: 34,787,119 (GRCm39) D448E probably damaging Het
Ptprj A T 2: 90,282,488 (GRCm39) V799D probably damaging Het
Rpgrip1 T A 14: 52,349,634 (GRCm39) Y7* probably null Het
Sema3c A G 5: 17,919,413 (GRCm39) H483R probably benign Het
Slc4a11 A G 2: 130,527,328 (GRCm39) probably benign Het
St3gal1 C A 15: 66,984,466 (GRCm39) R103L probably benign Het
Tet2 A T 3: 133,186,059 (GRCm39) V1126E possibly damaging Het
Tmem117 A T 15: 94,992,545 (GRCm39) I402L probably benign Het
Ttc28 T A 5: 111,249,826 (GRCm39) probably benign Het
Ttn A T 2: 76,702,182 (GRCm39) probably benign Het
Vmn1r7 T A 6: 57,001,532 (GRCm39) M243L probably benign Het
Wnt1 G T 15: 98,689,714 (GRCm39) W167L probably damaging Het
Zfp553 G T 7: 126,835,387 (GRCm39) S314I probably damaging Het
Zranb2 T C 3: 157,250,602 (GRCm39) probably benign Het
Other mutations in Gfer
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-03