Incidental Mutation 'IGL02727:Irag2'
| ID |
305269 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irag2
|
| Ensembl Gene |
ENSMUSG00000030263 |
| Gene Name |
inositol 1,4,5-triphosphate receptor associated 2 |
| Synonyms |
Jaw1, Lrmp, D6Int7, D6Int8, D6Int5, D6Int4, D6Int3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145120344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 520
(S520P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000204105]
[ENSMUST00000135984]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032396
AA Change: S520P
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
AA Change: S520P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060797
|
| SMART Domains |
Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Pfam:Casc1_N
|
29 |
229 |
5.5e-61 |
PFAM |
|
Pfam:Casc1
|
241 |
469 |
3.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111728
|
| SMART Domains |
Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
45 |
N/A |
INTRINSIC |
|
Pfam:Casc1
|
228 |
456 |
6.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132937
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132948
AA Change: S484P
|
| SMART Domains |
Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
AA Change: S484P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
8 |
504 |
3.7e-248 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204105
|
| SMART Domains |
Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Pfam:Casc1_N
|
29 |
229 |
3.4e-57 |
PFAM |
|
Pfam:Casc1
|
241 |
469 |
2.3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
| 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 encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,226,724 (GRCm39) |
T13A |
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,342,469 (GRCm39) |
K447I |
probably damaging |
Het |
| Ankrd17 |
A |
G |
5: 90,392,151 (GRCm39) |
S1840P |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,930,344 (GRCm39) |
I1940M |
probably benign |
Het |
| Bfar |
T |
G |
16: 13,506,791 (GRCm39) |
|
probably null |
Het |
| Bicra |
G |
T |
7: 15,713,390 (GRCm39) |
H937Q |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,562 (GRCm39) |
M334K |
probably benign |
Het |
| Camsap2 |
T |
G |
1: 136,232,050 (GRCm39) |
M182L |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,811,383 (GRCm39) |
C1407S |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,234,753 (GRCm39) |
S112P |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,281,341 (GRCm39) |
V728E |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,434,001 (GRCm39) |
Q103L |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,515,830 (GRCm39) |
I21K |
probably damaging |
Het |
| Derl2 |
A |
C |
11: 70,904,036 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
T |
10: 128,558,317 (GRCm39) |
|
probably benign |
Het |
| Dusp11 |
T |
C |
6: 85,938,474 (GRCm39) |
D15G |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,773,577 (GRCm39) |
D110G |
probably damaging |
Het |
| Fkbp11 |
A |
T |
15: 98,622,471 (GRCm39) |
V134E |
probably damaging |
Het |
| Gm3248 |
T |
C |
14: 5,945,036 (GRCm38) |
T49A |
probably damaging |
Het |
| Gm57858 |
T |
A |
3: 36,087,065 (GRCm39) |
R176S |
possibly damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,939 (GRCm39) |
|
probably benign |
Het |
| Manea |
C |
A |
4: 26,328,127 (GRCm39) |
E305* |
probably null |
Het |
| Manea |
T |
A |
4: 26,328,126 (GRCm39) |
E305V |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,337,606 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
G |
T |
9: 104,931,726 (GRCm39) |
D59Y |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,675,942 (GRCm39) |
Y248C |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,468,353 (GRCm39) |
|
probably benign |
Het |
| Or10a5 |
G |
T |
7: 106,635,902 (GRCm39) |
C180F |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,411,190 (GRCm39) |
I310K |
probably benign |
Het |
| Or2y1c |
G |
T |
11: 49,361,893 (GRCm39) |
G305V |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,808 (GRCm39) |
T239A |
probably damaging |
Het |
| Pax8 |
C |
A |
2: 24,331,642 (GRCm39) |
C147F |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,914,493 (GRCm39) |
V96A |
possibly damaging |
Het |
| Psg18 |
A |
T |
7: 18,079,875 (GRCm39) |
I442K |
probably damaging |
Het |
| Pygl |
T |
A |
12: 70,254,442 (GRCm39) |
|
probably null |
Het |
| Rassf2 |
C |
A |
2: 131,846,307 (GRCm39) |
R150L |
probably benign |
Het |
| Rdh7 |
A |
T |
10: 127,723,487 (GRCm39) |
W123R |
probably damaging |
Het |
| Saal1 |
T |
C |
7: 46,339,223 (GRCm39) |
|
probably null |
Het |
| Sall1 |
T |
C |
8: 89,757,383 (GRCm39) |
D907G |
probably damaging |
Het |
| Spag1 |
T |
A |
15: 36,234,964 (GRCm39) |
F876I |
probably damaging |
Het |
| Syncrip |
G |
A |
9: 88,361,932 (GRCm39) |
A61V |
probably damaging |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,871 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
C |
10: 130,229,995 (GRCm39) |
D39G |
possibly damaging |
Het |
|
| Other mutations in Irag2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Irag2
|
APN |
6 |
145,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01066:Irag2
|
APN |
6 |
145,106,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01877:Irag2
|
APN |
6 |
145,093,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02154:Irag2
|
APN |
6 |
145,083,967 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
FR4976:Irag2
|
UTSW |
6 |
145,119,511 (GRCm39) |
unclassified |
probably benign |
|
|
R0238:Irag2
|
UTSW |
6 |
145,117,704 (GRCm39) |
unclassified |
probably benign |
|
|
R0239:Irag2
|
UTSW |
6 |
145,117,704 (GRCm39) |
unclassified |
probably benign |
|
|
R0454:Irag2
|
UTSW |
6 |
145,113,710 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0485:Irag2
|
UTSW |
6 |
145,110,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0487:Irag2
|
UTSW |
6 |
145,110,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0554:Irag2
|
UTSW |
6 |
145,111,013 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0634:Irag2
|
UTSW |
6 |
145,120,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1440:Irag2
|
UTSW |
6 |
145,120,237 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1574:Irag2
|
UTSW |
6 |
145,104,356 (GRCm39) |
splice site |
probably benign |
|
|
R1697:Irag2
|
UTSW |
6 |
145,083,341 (GRCm39) |
splice site |
probably benign |
|
|
R1968:Irag2
|
UTSW |
6 |
145,115,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3735:Irag2
|
UTSW |
6 |
145,106,596 (GRCm39) |
splice site |
probably benign |
|
|
R3736:Irag2
|
UTSW |
6 |
145,106,596 (GRCm39) |
splice site |
probably benign |
|
|
R4643:Irag2
|
UTSW |
6 |
145,113,786 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4812:Irag2
|
UTSW |
6 |
145,093,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Irag2
|
UTSW |
6 |
145,111,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Irag2
|
UTSW |
6 |
145,083,946 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5845:Irag2
|
UTSW |
6 |
145,117,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6701:Irag2
|
UTSW |
6 |
145,090,702 (GRCm39) |
nonsense |
probably null |
|
|
R6735:Irag2
|
UTSW |
6 |
145,106,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Irag2
|
UTSW |
6 |
145,115,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Irag2
|
UTSW |
6 |
145,104,424 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7468:Irag2
|
UTSW |
6 |
145,119,427 (GRCm39) |
splice site |
probably null |
|
|
R8429:Irag2
|
UTSW |
6 |
145,110,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Irag2
|
UTSW |
6 |
145,117,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8779:Irag2
|
UTSW |
6 |
145,083,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8955:Irag2
|
UTSW |
6 |
145,117,390 (GRCm39) |
missense |
probably benign |
|
|
R9034:Irag2
|
UTSW |
6 |
145,083,273 (GRCm39) |
missense |
probably benign |
|
|
R9487:Irag2
|
UTSW |
6 |
145,120,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9488:Irag2
|
UTSW |
6 |
145,113,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9676:Irag2
|
UTSW |
6 |
145,120,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Irag2
|
UTSW |
6 |
145,119,509 (GRCm39) |
unclassified |
probably benign |
|
|
RF015:Irag2
|
UTSW |
6 |
145,119,509 (GRCm39) |
unclassified |
probably benign |
|
|
RF017:Irag2
|
UTSW |
6 |
145,119,510 (GRCm39) |
unclassified |
probably benign |
|
|
RF027:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Irag2
|
UTSW |
6 |
145,119,514 (GRCm39) |
unclassified |
probably benign |
|
|
RF038:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF043:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF044:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF048:Irag2
|
UTSW |
6 |
145,119,510 (GRCm39) |
unclassified |
probably benign |
|
|
RF052:Irag2
|
UTSW |
6 |
145,106,257 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF054:Irag2
|
UTSW |
6 |
145,119,514 (GRCm39) |
unclassified |
probably benign |
|
|
RF055:Irag2
|
UTSW |
6 |
145,119,511 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Irag2
|
UTSW |
6 |
145,093,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation