Incidental Mutation 'RF052:Irag2'
| ID |
605165 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF052 (G1)
|
| Quality Score |
150.467 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to ACCCC
at 145106257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000135984]
[ENSMUST00000152571]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032396
|
| SMART Domains |
Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132948
|
| SMART Domains |
Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
8 |
504 |
3.7e-248 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152571
|
| SMART Domains |
Protein: ENSMUSP00000120166
Gene: ENSMUSG00000030263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
9 |
198 |
2.2e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156849
|
| SMART Domains |
Protein: ENSMUSP00000115043
Gene: ENSMUSG00000030263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
9 |
196 |
1.2e-74 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
CCGCCCACG |
CCGCCCACGCCCACG |
16: 56,447,948 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
CC |
CCACTGGC |
6: 125,099,108 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
CTC |
CTCATC |
17: 47,047,674 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGTGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,589 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
CACAGGCAGA |
CA |
7: 38,221,999 (GRCm39) |
|
probably null |
Het |
| Lkaaear1 |
C |
T |
2: 181,339,226 (GRCm39) |
D75N |
probably damaging |
Het |
| Map1a |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,776 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
ACGTTAGCAGTGAGGAGCAAGCTGAGA |
ACGTTAGCAGTGAGGAGCAAGCTGAGATACGCGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,065 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,475 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CATGGTCCTGTAGAGCAATGGGGATTC |
CATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTAATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,775 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CTGTAGAGCAATGGGGATTC |
CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC |
5: 90,756,782 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
G |
GTGGTGGTGT |
7: 127,384,529 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
AGCAGC |
AGCAGCCGCAGC |
3: 54,635,086 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8 |
ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,900 (GRCm39) |
|
probably null |
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 |
|
IGL02727:Irag2
|
APN |
6 |
145,120,344 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCCTCGTTCCACAGAGACG -3'
(R):5'- AAAGCCATGGTGCGAACATC -3'
Sequencing Primer
(F):5'- TCGTTCCACAGAGACGGAGATTTC -3'
(R):5'- CCATGGTGCGAACATCTGAAGTAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation