Incidental Mutation 'IGL01431:Retreg2'
ID |
84139 |
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 # |
IGL01431
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75119422-75124557 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 75121749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041213]
[ENSMUST00000097694]
[ENSMUST00000168720]
[ENSMUST00000187901]
[ENSMUST00000188873]
[ENSMUST00000190240]
[ENSMUST00000189403]
[ENSMUST00000190679]
[ENSMUST00000189650]
[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 null
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 null
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 null
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: 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: 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: 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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
G |
9: 90,089,838 (GRCm39) |
I897T |
possibly damaging |
Het |
Aqp2 |
G |
A |
15: 99,477,301 (GRCm39) |
V90M |
possibly damaging |
Het |
Atf6 |
T |
C |
1: 170,680,571 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
T |
C |
8: 107,274,301 (GRCm39) |
Y607H |
probably damaging |
Het |
Cer1 |
T |
A |
4: 82,801,068 (GRCm39) |
E198D |
probably benign |
Het |
Dscam |
A |
G |
16: 96,453,278 (GRCm39) |
|
probably null |
Het |
Ecel1 |
C |
T |
1: 87,079,226 (GRCm39) |
R484H |
probably damaging |
Het |
Entpd7 |
C |
A |
19: 43,718,278 (GRCm39) |
H575Q |
probably benign |
Het |
F11r |
T |
C |
1: 171,290,477 (GRCm39) |
V279A |
probably damaging |
Het |
Gm17093 |
T |
A |
14: 44,759,122 (GRCm39) |
|
probably benign |
Het |
Got1 |
T |
A |
19: 43,491,488 (GRCm39) |
K321* |
probably null |
Het |
Gpn1 |
T |
C |
5: 31,664,882 (GRCm39) |
V302A |
probably benign |
Het |
Hivep1 |
G |
T |
13: 42,311,493 (GRCm39) |
K1244N |
probably damaging |
Het |
Idh3b |
T |
C |
2: 130,123,817 (GRCm39) |
T116A |
possibly damaging |
Het |
Itgb4 |
C |
A |
11: 115,897,283 (GRCm39) |
|
probably benign |
Het |
Mybl1 |
G |
T |
1: 9,742,872 (GRCm39) |
L579I |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,263,782 (GRCm39) |
T1694S |
probably null |
Het |
Mylk3 |
T |
C |
8: 86,063,030 (GRCm39) |
D537G |
probably damaging |
Het |
Myo1d |
A |
C |
11: 80,565,665 (GRCm39) |
F387V |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,361,361 (GRCm39) |
Y448C |
probably benign |
Het |
Or8k40 |
A |
T |
2: 86,584,508 (GRCm39) |
H191Q |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,832,804 (GRCm39) |
|
probably benign |
Het |
Potefam1 |
A |
T |
2: 111,055,740 (GRCm39) |
|
probably benign |
Het |
Ripply3 |
G |
A |
16: 94,129,402 (GRCm39) |
C16Y |
possibly damaging |
Het |
Robo3 |
G |
A |
9: 37,330,407 (GRCm39) |
|
probably benign |
Het |
Rrm1 |
C |
A |
7: 102,106,759 (GRCm39) |
|
probably benign |
Het |
Rsad2 |
T |
A |
12: 26,498,666 (GRCm39) |
R269S |
probably benign |
Het |
Sbp |
A |
T |
17: 24,164,322 (GRCm39) |
|
probably benign |
Het |
Schip1 |
A |
T |
3: 68,525,110 (GRCm39) |
Q162L |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,980,144 (GRCm39) |
Y67C |
probably damaging |
Het |
Slc25a25 |
C |
T |
2: 32,309,103 (GRCm39) |
R233K |
probably damaging |
Het |
Smoc1 |
C |
A |
12: 81,199,525 (GRCm39) |
S220* |
probably null |
Het |
Stab1 |
C |
A |
14: 30,870,952 (GRCm39) |
R1299I |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,805,074 (GRCm39) |
|
probably benign |
Het |
Tmc7 |
T |
G |
7: 118,151,985 (GRCm39) |
D312A |
probably damaging |
Het |
Vmn1r79 |
T |
C |
7: 11,910,327 (GRCm39) |
S70P |
possibly damaging |
Het |
Zfc3h1 |
C |
A |
10: 115,259,128 (GRCm39) |
T1591K |
possibly damaging |
Het |
|
Other mutations in Retreg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01625:Retreg2
|
APN |
1 |
75,121,359 (GRCm39) |
unclassified |
probably benign |
|
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 |
2013-11-11 |