Incidental Mutation 'R4529:Retreg1'
| ID |
333049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Retreg1
|
| Ensembl Gene |
ENSMUSG00000022270 |
| Gene Name |
reticulophagy regulator 1 |
| Synonyms |
Fam134b, 1810015C04Rik |
| MMRRC Submission |
041592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
25843266-25973773 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25968600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 109
(Y109N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022881]
[ENSMUST00000110438]
[ENSMUST00000226438]
[ENSMUST00000226750]
[ENSMUST00000227275]
[ENSMUST00000228306]
[ENSMUST00000228327]
[ENSMUST00000228600]
|
| AlphaFold |
Q8VE91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022881
AA Change: Y243N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022881
Gene: ENSMUSG00000022270
AA Change: Y243N
| 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 damaging
Transcript: ENSMUST00000110438
AA Change: Y119N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106068
Gene: ENSMUSG00000022270
AA Change: Y119N
| 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 damaging
Transcript: ENSMUST00000226438
AA Change: Y127N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226750
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227275
AA Change: Y119N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228306
AA Change: Y109N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228327
AA Change: Y85N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228600
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,727,519 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,051,742 (GRCm39) |
N404D |
probably benign |
Het |
| Ankrd2 |
A |
T |
19: 42,032,240 (GRCm39) |
I231F |
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,913,899 (GRCm39) |
N641D |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,550 (GRCm39) |
T178A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,592 (GRCm39) |
Y64C |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,608,962 (GRCm39) |
H281R |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Fcamr |
A |
G |
1: 130,732,313 (GRCm39) |
H44R |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm5460 |
A |
C |
14: 33,767,769 (GRCm39) |
D459A |
probably damaging |
Het |
| H2-Q6 |
C |
T |
17: 35,644,820 (GRCm39) |
T203I |
probably null |
Het |
| Inmt |
T |
C |
6: 55,148,012 (GRCm39) |
M206V |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,301 (GRCm39) |
S360P |
possibly damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,458,355 (GRCm39) |
V312G |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,270,832 (GRCm39) |
L899P |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,287 (GRCm39) |
V202A |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,149,419 (GRCm39) |
I920V |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,418,877 (GRCm39) |
V679E |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,131,100 (GRCm39) |
R785Q |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,976,984 (GRCm39) |
V162A |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,411,274 (GRCm39) |
L919P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,473,831 (GRCm39) |
|
probably null |
Het |
| Pou3f3 |
C |
A |
1: 42,737,714 (GRCm39) |
T470K |
probably benign |
Het |
| Prss38 |
T |
C |
11: 59,264,325 (GRCm39) |
Y214C |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,500,907 (GRCm39) |
Y413C |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,376,044 (GRCm39) |
C38R |
possibly damaging |
Het |
| Themis |
T |
C |
10: 28,658,331 (GRCm39) |
F453L |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Xpo7 |
G |
A |
14: 70,906,188 (GRCm39) |
T986M |
probably damaging |
Het |
| Zfp51 |
C |
T |
17: 21,684,998 (GRCm39) |
L538F |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 726,511 (GRCm39) |
L418S |
possibly damaging |
Het |
|
| Other mutations in Retreg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02118:Retreg1
|
APN |
15 |
25,966,709 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCGGGGACAGTGGTTATAG -3'
(R):5'- GCCATGCCCCATTTAGAAAC -3'
Sequencing Primer
(F):5'- GTGTACTTGATGAAGGGATAAACG -3'
(R):5'- TGCCCCATTTAGAAACATGCAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation