Incidental Mutation 'R2183:Irag1'
| ID |
237292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irag1
|
| Ensembl Gene |
ENSMUSG00000005611 |
| Gene Name |
inositol 1,4,5-triphosphate receptor associated 1 |
| Synonyms |
Ris1, Mrvi1 |
| MMRRC Submission |
040185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
110467473-110581668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110498189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 402
(L402Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005751]
[ENSMUST00000125758]
[ENSMUST00000127935]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005751
AA Change: L543Q
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611
AA Change: L543Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
160 |
N/A |
INTRINSIC |
|
Pfam:MRVI1
|
265 |
856 |
1.8e-227 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125758
AA Change: L608Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: L608Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
163 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
225 |
N/A |
INTRINSIC |
|
Pfam:MRVI1
|
336 |
921 |
1.5e-202 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127935
AA Change: L402Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120045
Gene: ENSMUSG00000005611
AA Change: L402Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
124 |
715 |
7.9e-228 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is a putative tumor suppressor gene that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein participates in signaling by nitric oxide (NO) to inhibit intracellular calcium release and platelet aggregation in cardiovascular tissue. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show lower blood pressure, a slightly reduced heart rate, and failure of cGMP-mediated relaxation of receptor-triggered smooth muscle contraction; 50% of mice die prematurely with an enlarged stomach, a dilated cecum, pyloric stenosis and impaired GI motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
T |
C |
15: 102,454,908 (GRCm39) |
T287A |
possibly damaging |
Het |
| Atg9b |
C |
T |
5: 24,595,491 (GRCm39) |
A263T |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,028 (GRCm39) |
H371Q |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,875,581 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cdc6 |
A |
T |
11: 98,799,524 (GRCm39) |
K17* |
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,801,157 (GRCm39) |
R758Q |
possibly damaging |
Het |
| Cenpk |
T |
C |
13: 104,370,671 (GRCm39) |
M64T |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,582,760 (GRCm39) |
T282S |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,909,732 (GRCm39) |
T757I |
probably benign |
Het |
| Gcsh |
A |
T |
8: 117,715,885 (GRCm39) |
V66E |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,926,102 (GRCm39) |
N281S |
probably damaging |
Het |
| Hs1bp3 |
T |
C |
12: 8,371,610 (GRCm39) |
V97A |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,061,595 (GRCm39) |
T22A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,098,004 (GRCm39) |
N1795D |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,778 (GRCm39) |
V627A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,660,462 (GRCm39) |
C41R |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,707 (GRCm39) |
|
probably null |
Het |
| Nebl |
T |
C |
2: 17,409,027 (GRCm39) |
D357G |
probably damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,804 (GRCm39) |
K137R |
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,594 (GRCm39) |
V325E |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,723 (GRCm39) |
Q100* |
probably null |
Het |
| Or5t7 |
A |
T |
2: 86,507,380 (GRCm39) |
M99K |
probably benign |
Het |
| Phc1 |
C |
A |
6: 122,300,284 (GRCm39) |
V487L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,345 (GRCm39) |
V745A |
probably damaging |
Het |
| Proca1 |
A |
T |
11: 78,094,975 (GRCm39) |
H83L |
possibly damaging |
Het |
| Prpf4 |
G |
A |
4: 62,330,046 (GRCm39) |
V107I |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,284 (GRCm39) |
R1458Q |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rbsn |
C |
A |
6: 92,166,618 (GRCm39) |
L675F |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,613 (GRCm39) |
S514G |
probably benign |
Het |
| Scai |
G |
A |
2: 38,970,138 (GRCm39) |
T542I |
probably benign |
Het |
| Sftpa1 |
G |
T |
14: 40,854,823 (GRCm39) |
D73Y |
probably damaging |
Het |
| Sgms2 |
A |
C |
3: 131,129,934 (GRCm39) |
|
probably null |
Het |
| Spart |
A |
G |
3: 55,024,554 (GRCm39) |
I50V |
probably benign |
Het |
| Spata7 |
A |
T |
12: 98,603,871 (GRCm39) |
K47N |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,789 (GRCm39) |
T443S |
probably damaging |
Het |
| Tmem130 |
T |
C |
5: 144,692,242 (GRCm39) |
D54G |
possibly damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Trp53rkb |
G |
T |
2: 166,635,877 (GRCm39) |
V73L |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,295,961 (GRCm39) |
L1103H |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,802,370 (GRCm39) |
V95E |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,533 (GRCm39) |
H377Q |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,544 (GRCm39) |
R1792* |
probably null |
Het |
|
| Other mutations in Irag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01079:Irag1
|
APN |
7 |
110,545,174 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01384:Irag1
|
APN |
7 |
110,525,708 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01474:Irag1
|
APN |
7 |
110,470,640 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02081:Irag1
|
APN |
7 |
110,523,281 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02193:Irag1
|
APN |
7 |
110,498,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02537:Irag1
|
APN |
7 |
110,470,680 (GRCm39) |
nonsense |
probably null |
|
|
IGL03084:Irag1
|
APN |
7 |
110,485,036 (GRCm39) |
splice site |
probably benign |
|
|
IGL03264:Irag1
|
APN |
7 |
110,525,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
hurricane
|
UTSW |
7 |
110,523,170 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0346:Irag1
|
UTSW |
7 |
110,498,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Irag1
|
UTSW |
7 |
110,476,104 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0731:Irag1
|
UTSW |
7 |
110,476,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1168:Irag1
|
UTSW |
7 |
110,495,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1342:Irag1
|
UTSW |
7 |
110,487,252 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1887:Irag1
|
UTSW |
7 |
110,523,740 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3417:Irag1
|
UTSW |
7 |
110,476,161 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3736:Irag1
|
UTSW |
7 |
110,523,170 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4063:Irag1
|
UTSW |
7 |
110,522,984 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4436:Irag1
|
UTSW |
7 |
110,476,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4523:Irag1
|
UTSW |
7 |
110,523,048 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4948:Irag1
|
UTSW |
7 |
110,487,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Irag1
|
UTSW |
7 |
110,524,519 (GRCm39) |
missense |
probably benign |
|
|
R5085:Irag1
|
UTSW |
7 |
110,470,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Irag1
|
UTSW |
7 |
110,545,209 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6194:Irag1
|
UTSW |
7 |
110,498,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Irag1
|
UTSW |
7 |
110,476,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6273:Irag1
|
UTSW |
7 |
110,470,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6608:Irag1
|
UTSW |
7 |
110,487,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Irag1
|
UTSW |
7 |
110,528,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Irag1
|
UTSW |
7 |
110,520,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Irag1
|
UTSW |
7 |
110,495,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Irag1
|
UTSW |
7 |
110,498,931 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7412:Irag1
|
UTSW |
7 |
110,522,963 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7420:Irag1
|
UTSW |
7 |
110,470,680 (GRCm39) |
nonsense |
probably null |
|
|
R7857:Irag1
|
UTSW |
7 |
110,522,742 (GRCm39) |
nonsense |
probably null |
|
|
R8078:Irag1
|
UTSW |
7 |
110,498,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Irag1
|
UTSW |
7 |
110,498,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8280:Irag1
|
UTSW |
7 |
110,522,828 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8733:Irag1
|
UTSW |
7 |
110,477,425 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8946:Irag1
|
UTSW |
7 |
110,477,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9150:Irag1
|
UTSW |
7 |
110,498,205 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9321:Irag1
|
UTSW |
7 |
110,524,534 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9373:Irag1
|
UTSW |
7 |
110,545,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9445:Irag1
|
UTSW |
7 |
110,545,161 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9482:Irag1
|
UTSW |
7 |
110,545,259 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9715:Irag1
|
UTSW |
7 |
110,470,640 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0065:Irag1
|
UTSW |
7 |
110,523,251 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1176:Irag1
|
UTSW |
7 |
110,523,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGGTCTAAGTCAGTCACC -3'
(R):5'- ATGAATTCAGGGTTGGTATGCT -3'
Sequencing Primer
(F):5'- AGCCAGTATTCTGCTAGCAG -3'
(R):5'- AGAAAGTTCTGTGACCCCTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation