Incidental Mutation 'IGL02118:Retreg1'
ID |
280488 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Retreg1
|
Ensembl Gene |
ENSMUSG00000022270 |
Gene Name |
reticulophagy regulator 1 |
Synonyms |
Fam134b, 1810015C04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
IGL02118
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
25843266-25973773 bp(+) (GRCm39) |
Type of Mutation |
splice site (2273 bp from exon) |
DNA Base Change (assembly) |
T to G
at 25966709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154791
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022881]
[ENSMUST00000110438]
[ENSMUST00000226438]
[ENSMUST00000226750]
[ENSMUST00000227275]
[ENSMUST00000228306]
[ENSMUST00000228327]
[ENSMUST00000228600]
|
AlphaFold |
Q8VE91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022881
|
SMART Domains |
Protein: ENSMUSP00000022881 Gene: ENSMUSG00000022270
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
45 |
N/A |
INTRINSIC |
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
transmembrane domain
|
179 |
201 |
N/A |
INTRINSIC |
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
low complexity region
|
427 |
442 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110438
|
SMART Domains |
Protein: ENSMUSP00000106068 Gene: ENSMUSG00000022270
Domain | Start | End | E-Value | Type |
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
low complexity region
|
78 |
92 |
N/A |
INTRINSIC |
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226438
|
Predicted Effect |
probably null
Transcript: ENSMUST00000226750
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227275
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228306
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228600
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased thermal nociceptive threshold and sensory neuron degeneration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
Actn2 |
A |
G |
13: 12,291,433 (GRCm39) |
|
probably benign |
Het |
Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Aldob |
T |
A |
4: 49,538,790 (GRCm39) |
K243* |
probably null |
Het |
Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cask |
T |
C |
X: 13,425,634 (GRCm39) |
I471V |
probably damaging |
Het |
Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
Morc1 |
T |
C |
16: 48,407,467 (GRCm39) |
L661P |
probably benign |
Het |
Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
Sema6b |
G |
T |
17: 56,439,821 (GRCm39) |
P7T |
probably benign |
Het |
Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
Ttc39b |
T |
A |
4: 83,216,186 (GRCm39) |
D19V |
probably damaging |
Het |
Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,835,879 (GRCm39) |
D14G |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
probably damaging |
Het |
|
Other mutations in Retreg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02548:Retreg1
|
APN |
15 |
25,895,204 (GRCm39) |
nonsense |
probably null |
|
R0834:Retreg1
|
UTSW |
15 |
25,971,756 (GRCm39) |
missense |
probably benign |
0.01 |
R1923:Retreg1
|
UTSW |
15 |
25,969,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Retreg1
|
UTSW |
15 |
25,970,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R4444:Retreg1
|
UTSW |
15 |
25,968,530 (GRCm39) |
splice site |
probably null |
|
R4529:Retreg1
|
UTSW |
15 |
25,968,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R4778:Retreg1
|
UTSW |
15 |
25,971,871 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5026:Retreg1
|
UTSW |
15 |
25,970,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R5103:Retreg1
|
UTSW |
15 |
25,968,540 (GRCm39) |
nonsense |
probably null |
|
R6880:Retreg1
|
UTSW |
15 |
25,971,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Retreg1
|
UTSW |
15 |
25,971,684 (GRCm39) |
missense |
probably benign |
0.44 |
R7357:Retreg1
|
UTSW |
15 |
25,972,029 (GRCm39) |
missense |
probably damaging |
0.97 |
R7488:Retreg1
|
UTSW |
15 |
25,889,628 (GRCm39) |
missense |
|
|
R7542:Retreg1
|
UTSW |
15 |
25,941,296 (GRCm39) |
start codon destroyed |
probably null |
0.10 |
R7599:Retreg1
|
UTSW |
15 |
25,971,727 (GRCm39) |
missense |
probably benign |
0.04 |
R7670:Retreg1
|
UTSW |
15 |
25,941,126 (GRCm39) |
intron |
probably benign |
|
R8022:Retreg1
|
UTSW |
15 |
25,843,565 (GRCm39) |
missense |
|
|
R8084:Retreg1
|
UTSW |
15 |
25,969,885 (GRCm39) |
missense |
probably benign |
0.26 |
R8734:Retreg1
|
UTSW |
15 |
25,968,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R9123:Retreg1
|
UTSW |
15 |
25,968,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R9125:Retreg1
|
UTSW |
15 |
25,968,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R9765:Retreg1
|
UTSW |
15 |
25,940,985 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |