Incidental Mutation 'R0239:Irag2'
| ID |
59221 |
| 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 |
| MMRRC Submission |
038477-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0239 (G1)
|
| Quality Score |
201 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 145117704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000135984]
[ENSMUST00000204105]
|
| 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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000135191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000149244
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
| Validation Efficiency |
98% (81/83) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
C |
A |
2: 131,388,134 (GRCm39) |
V474F |
probably benign |
Het |
| Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
| Ash1l |
A |
G |
3: 88,974,529 (GRCm39) |
D2618G |
possibly damaging |
Het |
| Atp6v1c2 |
C |
A |
12: 17,344,676 (GRCm39) |
|
probably null |
Het |
| Cacna1d |
A |
G |
14: 29,845,453 (GRCm39) |
V572A |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,228,187 (GRCm39) |
W882R |
probably damaging |
Het |
| Cd72 |
A |
G |
4: 43,453,163 (GRCm39) |
V91A |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,586,493 (GRCm39) |
W771R |
probably damaging |
Het |
| Cdx2 |
G |
T |
5: 147,240,097 (GRCm39) |
T193K |
probably damaging |
Het |
| Cfap70 |
A |
C |
14: 20,498,673 (GRCm39) |
S5A |
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,446 (GRCm39) |
V241A |
probably damaging |
Het |
| Col4a1 |
C |
T |
8: 11,268,780 (GRCm39) |
|
probably benign |
Het |
| D3Ertd751e |
A |
G |
3: 41,708,313 (GRCm39) |
Y150C |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,100,584 (GRCm39) |
S832P |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,370,738 (GRCm39) |
S4673G |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,787,539 (GRCm39) |
S818I |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,041,461 (GRCm39) |
Q156* |
probably null |
Het |
| Elp1 |
C |
A |
4: 56,784,596 (GRCm39) |
V466L |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,250,009 (GRCm39) |
V52A |
probably damaging |
Het |
| Flcn |
T |
C |
11: 59,691,902 (GRCm39) |
N249S |
probably benign |
Het |
| Gemin6 |
C |
A |
17: 80,533,139 (GRCm39) |
A24D |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
| Greb1l |
C |
T |
18: 10,458,567 (GRCm39) |
|
probably benign |
Het |
| Hal |
T |
C |
10: 93,339,344 (GRCm39) |
S478P |
possibly damaging |
Het |
| Hectd1 |
T |
A |
12: 51,816,101 (GRCm39) |
M1324L |
possibly damaging |
Het |
| Hyal5 |
T |
A |
6: 24,876,343 (GRCm39) |
L72Q |
probably damaging |
Het |
| Ift140 |
C |
A |
17: 25,264,497 (GRCm39) |
C557* |
probably null |
Het |
| Il4ra |
T |
C |
7: 125,174,371 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,332,074 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
G |
T |
9: 4,330,144 (GRCm39) |
V173L |
possibly damaging |
Het |
| Kif14 |
A |
G |
1: 136,455,131 (GRCm39) |
E1551G |
probably damaging |
Het |
| Klc1 |
A |
G |
12: 111,751,758 (GRCm39) |
|
probably benign |
Het |
| Krt17 |
G |
A |
11: 100,151,704 (GRCm39) |
R30* |
probably null |
Het |
| Lamb3 |
A |
T |
1: 193,003,361 (GRCm39) |
D100V |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,455,265 (GRCm39) |
D1385G |
probably damaging |
Het |
| Mettl25 |
C |
T |
10: 105,662,386 (GRCm39) |
V195I |
probably damaging |
Het |
| Micu2 |
G |
A |
14: 58,154,835 (GRCm39) |
|
probably benign |
Het |
| Mrrf |
T |
C |
2: 36,067,293 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,518 (GRCm39) |
T1466A |
probably benign |
Het |
| Myo3b |
T |
A |
2: 69,935,769 (GRCm39) |
C61S |
probably benign |
Het |
| Nacc2 |
T |
G |
2: 25,952,273 (GRCm39) |
N361T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,309,400 (GRCm39) |
K438M |
possibly damaging |
Het |
| Nipal4 |
A |
G |
11: 46,041,268 (GRCm39) |
V309A |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,729,018 (GRCm39) |
|
probably null |
Het |
| Nubp2 |
T |
C |
17: 25,103,445 (GRCm39) |
E144G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,957,467 (GRCm39) |
I266F |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,381 (GRCm39) |
F291L |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,462 (GRCm39) |
Y159H |
probably benign |
Het |
| Or52s1 |
G |
A |
7: 102,861,933 (GRCm39) |
V289M |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,452,843 (GRCm39) |
|
probably null |
Het |
| Otogl |
T |
A |
10: 107,642,557 (GRCm39) |
N1291I |
probably damaging |
Het |
| Pah |
C |
T |
10: 87,403,143 (GRCm39) |
P173S |
possibly damaging |
Het |
| Pga5 |
A |
G |
19: 10,646,817 (GRCm39) |
Y305H |
probably damaging |
Het |
| Plekha4 |
A |
G |
7: 45,181,782 (GRCm39) |
H62R |
probably damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,945,754 (GRCm39) |
D906E |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,256,927 (GRCm39) |
E98G |
possibly damaging |
Het |
| Ptk2 |
A |
T |
15: 73,215,132 (GRCm39) |
|
probably null |
Het |
| Pzp |
C |
T |
6: 128,466,119 (GRCm39) |
|
probably benign |
Het |
| Raet1c |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Scai |
T |
A |
2: 38,965,054 (GRCm39) |
I597F |
probably benign |
Het |
| Scgb1b2 |
T |
A |
7: 30,991,155 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
G |
A |
19: 44,513,908 (GRCm39) |
|
probably benign |
Het |
| Sirpd |
A |
G |
3: 15,361,661 (GRCm39) |
L163P |
probably damaging |
Het |
| Slc35c2 |
C |
T |
2: 165,122,757 (GRCm39) |
G176S |
probably damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,541,713 (GRCm39) |
I347N |
possibly damaging |
Het |
| Slc49a3 |
G |
T |
5: 108,591,882 (GRCm39) |
|
probably benign |
Het |
| Slc52a3 |
T |
C |
2: 151,850,076 (GRCm39) |
*461Q |
probably null |
Het |
| Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
| Tbc1d31 |
C |
A |
15: 57,804,149 (GRCm39) |
T388N |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,867,131 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
C |
12: 87,122,413 (GRCm39) |
W404R |
probably damaging |
Het |
| Tmem79 |
A |
G |
3: 88,240,628 (GRCm39) |
S107P |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,850,987 (GRCm39) |
E741K |
probably damaging |
Het |
| Trpm5 |
G |
T |
7: 142,636,695 (GRCm39) |
T414N |
probably damaging |
Het |
| Tsnaxip1 |
T |
A |
8: 106,571,120 (GRCm39) |
I660N |
possibly damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,070,291 (GRCm39) |
S78P |
probably damaging |
Het |
| Vac14 |
A |
T |
8: 111,362,007 (GRCm39) |
|
probably null |
Het |
| Vps51 |
G |
T |
19: 6,121,467 (GRCm39) |
S185* |
probably null |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp532 |
A |
T |
18: 65,816,056 (GRCm39) |
I810F |
possibly damaging |
Het |
| Zfp599 |
C |
T |
9: 22,161,055 (GRCm39) |
C370Y |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGATGTGAAAACTGACCGTTGTG -3'
(R):5'- TAAAAGGTTGCCATCCTGAGGGCTG -3'
Sequencing Primer
(F):5'- AAAACTGACCGTTGTGCTAGTTG -3'
(R):5'- TTGTCTCCACTGAGCTGAAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation