Incidental Mutation 'IGL01384:Irag1'
ID 78972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irag1
Ensembl Gene ENSMUSG00000005611
Gene Name inositol 1,4,5-triphosphate receptor associated 1
Synonyms Ris1, Mrvi1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL01384
Quality Score
Status
Chromosome 7
Chromosomal Location 110467473-110581668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110525708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 148 (V148A)
Ref Sequence ENSEMBL: ENSMUSP00000114578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005751] [ENSMUST00000125758] [ENSMUST00000127935] [ENSMUST00000154466]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005751
AA Change: V83A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611
AA Change: V83A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000125758
AA Change: V148A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: V148A

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000127935
SMART Domains Protein: ENSMUSP00000120045
Gene: ENSMUSG00000005611

DomainStartEndE-ValueType
Pfam:MRVI1 124 715 7.9e-228 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149923
Predicted Effect probably benign
Transcript: ENSMUST00000154466
AA Change: V83A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120765
Gene: ENSMUSG00000005611
AA Change: V83A

DomainStartEndE-ValueType
low complexity region 98 113 N/A INTRINSIC
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,575,749 (GRCm39) R683G possibly damaging Het
Abca9 A G 11: 110,036,463 (GRCm39) S549P probably damaging Het
Adgrd1 T C 5: 129,174,273 (GRCm39) S17P possibly damaging Het
Ankrd36 C A 11: 5,578,348 (GRCm39) H546N probably benign Het
Aopep C T 13: 63,338,290 (GRCm39) probably benign Het
Bivm T G 1: 44,165,907 (GRCm39) I119S possibly damaging Het
Ccdc88a G T 11: 29,453,915 (GRCm39) D1693Y probably damaging Het
Clcn6 G A 4: 148,103,423 (GRCm39) R242C probably damaging Het
Clec4a2 A C 6: 123,104,947 (GRCm39) K79T probably damaging Het
Cspp1 G A 1: 10,186,905 (GRCm39) R129H probably damaging Het
Cyp2c40 A T 19: 39,801,027 (GRCm39) M47K probably benign Het
Dmxl1 A G 18: 49,990,401 (GRCm39) D280G probably benign Het
Fbxo38 A G 18: 62,655,487 (GRCm39) S400P probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Gen1 T C 12: 11,305,242 (GRCm39) I184M probably benign Het
Gm9949 A T 18: 62,317,089 (GRCm39) probably benign Het
Grtp1 A T 8: 13,229,629 (GRCm39) V253E probably damaging Het
Lamb1 T A 12: 31,370,930 (GRCm39) M1327K probably benign Het
Lrp2 T A 2: 69,313,846 (GRCm39) D2295V probably damaging Het
Lrp2 T C 2: 69,284,156 (GRCm39) D3874G probably null Het
Muc5b A T 7: 141,400,555 (GRCm39) I509F unknown Het
Mug1 A C 6: 121,826,433 (GRCm39) probably benign Het
Myh7 A T 14: 55,208,916 (GRCm39) L1903Q probably damaging Het
Mylk G T 16: 34,759,322 (GRCm39) A1229S probably benign Het
Myorg G T 4: 41,498,151 (GRCm39) A493E probably damaging Het
Ncam1 A T 9: 49,421,152 (GRCm39) I721N possibly damaging Het
Or8b101 T A 9: 38,020,858 (GRCm39) I287N probably damaging Het
Pla2g2c A G 4: 138,471,012 (GRCm39) K131R probably benign Het
Rpgrip1l A T 8: 92,000,268 (GRCm39) I557N probably benign Het
Sirpb1b T A 3: 15,613,789 (GRCm39) N98Y probably damaging Het
Stab1 A G 14: 30,872,365 (GRCm39) V1182A probably benign Het
Tagap1 T C 17: 7,224,282 (GRCm39) D138G probably benign Het
Tiam2 T A 17: 3,477,477 (GRCm39) F567I probably benign Het
Ush2a A T 1: 188,285,425 (GRCm39) D1987V possibly damaging Het
Vmn1r36 A T 6: 66,693,446 (GRCm39) I37N probably damaging Het
Wif1 A T 10: 120,920,855 (GRCm39) T226S possibly damaging Het
Zfp428 A G 7: 24,210,167 (GRCm39) D22G possibly damaging Het
Zfp521 A T 18: 13,976,980 (GRCm39) N1144K probably benign Het
Other mutations in Irag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Irag1 APN 7 110,545,174 (GRCm39) missense possibly damaging 0.64
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
R2183:Irag1 UTSW 7 110,498,189 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-11-05