Incidental Mutation 'RF003:Irag2'
| ID |
602624 |
| 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 # |
RF003 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
AGCACATTG to AGCACATTGTGCACATTG
at 145119509 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 |
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 |
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: 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| A630073D07Rik |
A |
C |
6: 132,604,406 (GRCm39) |
L13R |
unknown |
Het |
| Alg9 |
GGC |
GGCCGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
| Arb2a |
A |
T |
13: 77,982,794 (GRCm39) |
I135L |
possibly damaging |
Het |
| Arc |
G |
C |
15: 74,543,980 (GRCm39) |
T81S |
probably benign |
Het |
| Atad5 |
A |
T |
11: 80,002,386 (GRCm39) |
K1059N |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,196,957 (GRCm39) |
V1143F |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,196,958 (GRCm39) |
Q1142H |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,965,574 (GRCm39) |
S583G |
probably benign |
Het |
| Cd109 |
TTAT |
TTATTTATTTATATAT |
9: 78,619,813 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
A |
T |
18: 67,971,027 (GRCm39) |
R1009S |
probably benign |
Het |
| Clvs2 |
T |
A |
10: 33,498,921 (GRCm39) |
H3L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,440 (GRCm39) |
M14V |
probably benign |
Het |
| Colec10 |
A |
G |
15: 54,325,787 (GRCm39) |
R206G |
possibly damaging |
Het |
| Dennd6a |
T |
C |
14: 26,350,689 (GRCm39) |
I598T |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
| Dnmt1 |
AGTTCCTACCTCGTT |
AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT |
9: 20,821,427 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,707,919 (GRCm39) |
D748G |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,524,729 (GRCm39) |
Q21* |
probably null |
Het |
| Flywch1 |
CCACTCCTGGTGT |
CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT |
17: 23,981,140 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
ACCTCC |
ACCTCCCCCTCC |
2: 113,356,131 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,865 (GRCm39) |
M5866K |
probably benign |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,612 (GRCm39) |
|
probably null |
Het |
| Garin5a |
C |
CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA |
7: 44,149,951 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
A |
4: 124,937,518 (GRCm39) |
|
probably null |
Het |
| Grip2 |
C |
T |
6: 91,760,574 (GRCm39) |
R341Q |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,500,312 (GRCm39) |
H3960L |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,762 (GRCm39) |
Y56* |
probably null |
Het |
| Il12a |
A |
T |
3: 68,602,562 (GRCm39) |
T102S |
probably benign |
Het |
| Il1a |
T |
A |
2: 129,144,852 (GRCm39) |
I189F |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,696,150 (GRCm39) |
Y361* |
probably null |
Het |
| Iqcf4 |
CTTTTCCTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT |
9: 106,447,806 (GRCm39) |
|
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Las1l |
AGTGG |
AGTGGTGG |
X: 94,984,422 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
T |
C |
5: 105,960,507 (GRCm39) |
Y306H |
probably damaging |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,777 (GRCm39) |
|
probably benign |
Het |
| Map1b |
G |
T |
13: 99,567,258 (GRCm39) |
A1821E |
unknown |
Het |
| Maz |
A |
G |
7: 126,624,669 (GRCm39) |
C284R |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,779,683 (GRCm39) |
H920R |
probably damaging |
Het |
| Megf10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
18: 57,427,099 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
C |
T |
14: 54,676,471 (GRCm39) |
R339* |
probably null |
Het |
| Mroh9 |
T |
G |
1: 162,885,630 (GRCm39) |
K334T |
probably damaging |
Het |
| Nab1 |
A |
T |
1: 52,518,441 (GRCm39) |
C320S |
probably damaging |
Het |
| Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
| Nudt4 |
T |
C |
10: 95,385,236 (GRCm39) |
N152D |
possibly damaging |
Het |
| Nup155 |
T |
TTTTG |
15: 8,148,660 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGCTGAGA |
AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA |
2: 119,458,084 (GRCm39) |
|
probably benign |
Het |
| Or10al2 |
A |
C |
17: 37,983,749 (GRCm39) |
K278N |
probably damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,855 (GRCm39) |
M118L |
probably damaging |
Het |
| Or2t48 |
CA |
C |
11: 58,419,983 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
GTTAT |
GTTATTAT |
7: 102,747,512 (GRCm39) |
|
|
Het |
| Or51f1e |
TTA |
TTAGTA |
7: 102,747,513 (GRCm39) |
|
probably null |
Het |
| Or7g16 |
T |
C |
9: 18,726,778 (GRCm39) |
T271A |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,296 (GRCm39) |
I206V |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,630,306 (GRCm39) |
Y1531C |
probably damaging |
Het |
| Pnma8b |
TGA |
TGAAGA |
7: 16,679,941 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,414,917 (GRCm39) |
V2065A |
probably damaging |
Het |
| Sbp |
AAGATGCTGACAACA |
AAGATGCTGACAACAGAGATGCTGACAACA |
17: 24,164,343 (GRCm39) |
|
probably benign |
Het |
| Sepsecs |
G |
A |
5: 52,804,533 (GRCm39) |
T379M |
probably benign |
Het |
| Sfswap |
GGCC |
GGCCCACTCTGCC |
5: 129,646,828 (GRCm39) |
|
probably benign |
Het |
| Six3 |
GCG |
GCGTCG |
17: 85,928,798 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
C |
T |
17: 48,099,003 (GRCm39) |
T259I |
possibly damaging |
Het |
| Tgoln1 |
A |
AAACTCAG |
6: 72,593,335 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
G |
A |
11: 115,686,958 (GRCm39) |
V1108M |
probably damaging |
Het |
| Usp35 |
T |
C |
7: 96,971,303 (GRCm39) |
K297E |
possibly damaging |
Het |
| Vcpkmt |
T |
A |
12: 69,629,598 (GRCm39) |
T55S |
possibly damaging |
Het |
| Zfp384 |
GCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAG |
6: 125,013,446 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
GGCCC |
GGCCCTGGCCCAAGCCC |
6: 125,013,439 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,227,688 (GRCm39) |
S1974T |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,704 (GRCm39) |
S254P |
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 |
|
|
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 |
|
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'- GGCTAAGACTGACTTCTGTAATTCTTC -3'
(R):5'- AAAACTGTTAGGTGGGGCCC -3'
Sequencing Primer
(F):5'- CTTGTGGGTCTCACCTGAC -3'
(R):5'- GGGCCCTTCTATAAAGCAGTCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation