Incidental Mutation 'R1248:Retreg2'
| ID |
152175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Retreg2
|
| Ensembl Gene |
ENSMUSG00000049339 |
| Gene Name |
reticulophagy regulator family member 2 |
| Synonyms |
MGC47289, Fam134a |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75119422-75124557 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 75121755 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]
[ENSMUST00000189809]
[ENSMUST00000189403]
[ENSMUST00000190679]
[ENSMUST00000189650]
|
| 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: ENSMUST00000189809
|
| SMART Domains |
Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CYCLIN
|
81 |
114 |
1e-10 |
BLAST |
|
| 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: 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: ENSMUST00000189345
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
probably damaging |
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 |
|
|
IGL01625:Retreg2
|
APN |
1 |
75,121,359 (GRCm39) |
unclassified |
probably benign |
|
|
R0143:Retreg2
|
UTSW |
1 |
75,123,074 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGTTTGGATGAAGGCTCCTGAG -3'
(R):5'- TCCACCTGCAAGAGAACCAGGATG -3'
Sequencing Primer
(F):5'- GGCTCCTGAGAAAGTGGC -3'
(R):5'- tccttctgcttcctcctctc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation