Incidental Mutation 'IGL01625:Retreg2'
| ID |
92778 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Retreg2
|
| Ensembl Gene |
ENSMUSG00000049339 |
| Gene Name |
reticulophagy regulator family member 2 |
| Synonyms |
MGC47289, Fam134a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL01625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75119422-75124557 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 75121359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041213]
[ENSMUST00000097694]
[ENSMUST00000168720]
[ENSMUST00000187901]
[ENSMUST00000188873]
[ENSMUST00000190240]
[ENSMUST00000189650]
[ENSMUST00000189403]
[ENSMUST00000190679]
[ENSMUST00000189809]
|
| AlphaFold |
Q6NS82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041213
|
| SMART Domains |
Protein: ENSMUSP00000044799
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
72 |
174 |
7.5e-10 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097694
|
| SMART Domains |
Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
198 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168720
|
| SMART Domains |
Protein: ENSMUSP00000132688
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
49 |
174 |
5.2e-13 |
PFAM |
|
Pfam:Cyclin_N
|
55 |
175 |
4.4e-6 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187901
|
| SMART Domains |
Protein: ENSMUSP00000140636
Gene: ENSMUSG00000049339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188873
|
| SMART Domains |
Protein: ENSMUSP00000139508
Gene: ENSMUSG00000049339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190240
|
| SMART Domains |
Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
Pfam:Reticulon
|
65 |
231 |
1.4e-8 |
PFAM |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189650
|
| SMART Domains |
Protein: ENSMUSP00000139473
Gene: ENSMUSG00000049339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189403
|
| SMART Domains |
Protein: ENSMUSP00000141062
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
44 |
170 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190679
|
| SMART Domains |
Protein: ENSMUSP00000140289
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin
|
49 |
174 |
5.2e-13 |
PFAM |
|
Pfam:Cyclin_N
|
55 |
175 |
4.4e-6 |
PFAM |
|
low complexity region
|
231 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189809
|
| SMART Domains |
Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CYCLIN
|
81 |
114 |
1e-10 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,979,957 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,283,816 (GRCm39) |
I16N |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,058,555 (GRCm39) |
|
probably null |
Het |
| Bzw1 |
A |
G |
1: 58,440,599 (GRCm39) |
T191A |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,686 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,602,459 (GRCm39) |
D1523G |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,196,319 (GRCm39) |
L148P |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,311,085 (GRCm39) |
F3147L |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,566 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,935,471 (GRCm39) |
N1983D |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,750,853 (GRCm39) |
D479N |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,344,621 (GRCm39) |
Q630L |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,208,789 (GRCm39) |
N111D |
probably damaging |
Het |
| Gm8127 |
T |
G |
14: 43,148,520 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,428,409 (GRCm39) |
N814K |
probably damaging |
Het |
| Iba57 |
G |
A |
11: 59,049,775 (GRCm39) |
R191W |
probably damaging |
Het |
| Itgae |
C |
A |
11: 73,010,263 (GRCm39) |
F584L |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,706 (GRCm39) |
K956E |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,575,918 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,166,337 (GRCm39) |
K218E |
possibly damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,832 (GRCm39) |
S49P |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,882 (GRCm39) |
S151A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,572,460 (GRCm39) |
D889G |
probably benign |
Het |
| Rbpjl |
A |
G |
2: 164,249,705 (GRCm39) |
K102R |
possibly damaging |
Het |
| Rfc4 |
A |
T |
16: 22,934,573 (GRCm39) |
L149Q |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,853 (GRCm39) |
D274E |
possibly damaging |
Het |
| Rlf |
A |
T |
4: 121,045,457 (GRCm39) |
S143R |
possibly damaging |
Het |
| Rptn |
T |
A |
3: 93,305,201 (GRCm39) |
S845T |
probably benign |
Het |
| Slamf8 |
C |
A |
1: 172,410,049 (GRCm39) |
D267Y |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,545,876 (GRCm39) |
S55L |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,916,126 (GRCm39) |
A2038V |
probably damaging |
Het |
| Stx17 |
C |
A |
4: 48,181,526 (GRCm39) |
P210T |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,224,601 (GRCm39) |
Y317H |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,534,565 (GRCm39) |
T1737N |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,628,998 (GRCm39) |
F116L |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,277,905 (GRCm39) |
S370G |
probably damaging |
Het |
| Tm6sf2 |
G |
T |
8: 70,528,733 (GRCm39) |
G162C |
probably null |
Het |
| Togaram2 |
A |
C |
17: 72,021,693 (GRCm39) |
E718D |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,578,327 (GRCm39) |
F15862V |
probably damaging |
Het |
| Uba6 |
T |
A |
5: 86,268,388 (GRCm39) |
R916* |
probably null |
Het |
| Umodl1 |
A |
G |
17: 31,215,229 (GRCm39) |
M1018V |
probably benign |
Het |
| Wdr26 |
G |
A |
1: 181,019,381 (GRCm39) |
T332I |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,223,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Retreg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Retreg2
|
APN |
1 |
75,121,749 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0143:Retreg2
|
UTSW |
1 |
75,123,074 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1248:Retreg2
|
UTSW |
1 |
75,121,755 (GRCm39) |
unclassified |
probably benign |
|
|
R1446:Retreg2
|
UTSW |
1 |
75,120,103 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1463:Retreg2
|
UTSW |
1 |
75,123,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1734:Retreg2
|
UTSW |
1 |
75,119,630 (GRCm39) |
splice site |
probably null |
|
|
R1851:Retreg2
|
UTSW |
1 |
75,123,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1852:Retreg2
|
UTSW |
1 |
75,123,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2883:Retreg2
|
UTSW |
1 |
75,123,356 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3027:Retreg2
|
UTSW |
1 |
75,123,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4665:Retreg2
|
UTSW |
1 |
75,121,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Retreg2
|
UTSW |
1 |
75,121,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5544:Retreg2
|
UTSW |
1 |
75,121,333 (GRCm39) |
makesense |
probably null |
|
|
R6143:Retreg2
|
UTSW |
1 |
75,123,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Retreg2
|
UTSW |
1 |
75,123,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Retreg2
|
UTSW |
1 |
75,121,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7822:Retreg2
|
UTSW |
1 |
75,123,185 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8826:Retreg2
|
UTSW |
1 |
75,119,525 (GRCm39) |
missense |
unknown |
|
|
Z1176:Retreg2
|
UTSW |
1 |
75,122,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation