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)
|
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
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: T47S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000049186 Gene: ENSMUSG00000040888 AA Change: T47S
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: 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
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |