Incidental Mutation 'IGL02193:Mrvi1'
ID283977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrvi1
Ensembl Gene ENSMUSG00000005611
Gene NameMRV integration site 1
SynonymsRis1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL02193
Quality Score
Status
Chromosome7
Chromosomal Location110868266-110982461 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110898955 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 411 (L411Q)
Ref Sequence ENSEMBL: ENSMUSP00000120045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005751] [ENSMUST00000125758] [ENSMUST00000127935]
Predicted Effect probably damaging
Transcript: ENSMUST00000005751
AA Change: L552Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611
AA Change: L552Q

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 probably damaging
Transcript: ENSMUST00000125758
AA Change: L617Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: L617Q

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 damaging
Transcript: ENSMUST00000127935
AA Change: L411Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120045
Gene: ENSMUSG00000005611
AA Change: L411Q

DomainStartEndE-ValueType
Pfam:MRVI1 124 715 7.9e-228 PFAM
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A G 7: 140,249,000 T191A probably benign Het
9130011E15Rik G T 19: 45,972,884 T118K probably benign Het
Agl A G 3: 116,779,166 L812P probably damaging Het
Ankmy1 A T 1: 92,881,045 F714I probably benign Het
Celf5 A G 10: 81,470,673 I52T probably damaging Het
Clstn1 T C 4: 149,645,352 V771A probably benign Het
Enpep G T 3: 129,281,687 L661I possibly damaging Het
Faxc A G 4: 21,993,486 N377D possibly damaging Het
Gabrb3 A G 7: 57,792,516 E190G probably damaging Het
Gm4787 C T 12: 81,378,528 M285I probably benign Het
Gm5900 A C 7: 104,950,024 noncoding transcript Het
Gm6133 A G 18: 78,350,093 N101D probably benign Het
Gtse1 A G 15: 85,862,330 K116E probably benign Het
H2-D1 T G 17: 35,265,809 H215Q possibly damaging Het
Hdc A T 2: 126,601,780 probably benign Het
Hnrnph3 T C 10: 63,017,277 H195R probably damaging Het
Ipo8 T C 6: 148,777,284 T939A probably damaging Het
Krt79 G T 15: 101,939,905 P104T possibly damaging Het
Lama4 A T 10: 39,042,674 M384L probably benign Het
Lamb2 T G 9: 108,489,360 D1590E probably benign Het
Ly6i A T 15: 74,983,030 C10* probably null Het
Mamdc4 G A 2: 25,564,446 A1082V probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nlrp4a T A 7: 26,459,692 L799H probably damaging Het
Olfr1040 A T 2: 86,146,715 N6K probably benign Het
Olfr1383 C T 11: 49,523,744 T7I possibly damaging Het
Olfr449 T C 6: 42,838,819 probably benign Het
Otud6b T C 4: 14,812,543 H268R probably damaging Het
Peg3 T C 7: 6,711,928 E138G probably damaging Het
Phactr1 T C 13: 42,709,700 probably benign Het
Psmf1 A G 2: 151,720,813 probably benign Het
Rab32 T C 10: 10,546,455 probably benign Het
Rfwd3 C T 8: 111,273,015 probably benign Het
Slc25a3 A G 10: 91,118,115 V245A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc1 A G 18: 9,992,863 D545G probably benign Het
Tpst1 T A 5: 130,101,896 M69K possibly damaging Het
Trank1 T C 9: 111,367,276 V1456A probably benign Het
Trappc6a T A 7: 19,515,219 C124S possibly damaging Het
Tsc22d2 T A 3: 58,460,207 probably benign Het
Other mutations in Mrvi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Mrvi1 APN 7 110945967 missense possibly damaging 0.64
IGL01384:Mrvi1 APN 7 110926501 missense possibly damaging 0.89
IGL01474:Mrvi1 APN 7 110871433 missense possibly damaging 0.65
IGL02081:Mrvi1 APN 7 110924074 critical splice acceptor site probably null
IGL02537:Mrvi1 APN 7 110871473 nonsense probably null
IGL03084:Mrvi1 APN 7 110885829 splice site probably benign
IGL03264:Mrvi1 APN 7 110926346 missense probably benign 0.00
hurricane UTSW 7 110923963 missense probably benign 0.09
R0346:Mrvi1 UTSW 7 110898976 missense probably damaging 1.00
R0401:Mrvi1 UTSW 7 110876897 missense probably benign 0.09
R0731:Mrvi1 UTSW 7 110876900 missense probably benign 0.00
R1168:Mrvi1 UTSW 7 110895931 missense probably damaging 1.00
R1342:Mrvi1 UTSW 7 110888045 missense probably benign 0.07
R1887:Mrvi1 UTSW 7 110924533 critical splice donor site probably null
R2183:Mrvi1 UTSW 7 110898982 missense probably damaging 1.00
R3417:Mrvi1 UTSW 7 110876954 missense possibly damaging 0.90
R3736:Mrvi1 UTSW 7 110923963 missense probably benign 0.09
R4063:Mrvi1 UTSW 7 110923777 missense probably benign 0.38
R4436:Mrvi1 UTSW 7 110876917 missense probably damaging 1.00
R4523:Mrvi1 UTSW 7 110923841 missense probably benign 0.02
R4948:Mrvi1 UTSW 7 110888029 missense probably damaging 1.00
R5070:Mrvi1 UTSW 7 110925312 missense probably benign
R5085:Mrvi1 UTSW 7 110871493 missense probably damaging 1.00
R5605:Mrvi1 UTSW 7 110946002 missense possibly damaging 0.85
R6194:Mrvi1 UTSW 7 110899694 missense probably damaging 1.00
R6218:Mrvi1 UTSW 7 110876905 missense probably benign 0.00
R6273:Mrvi1 UTSW 7 110871583 missense probably benign 0.01
R6608:Mrvi1 UTSW 7 110888551 missense probably damaging 1.00
R6754:Mrvi1 UTSW 7 110929512 missense probably damaging 1.00
R6835:Mrvi1 UTSW 7 110921334 missense probably damaging 1.00
R7064:Mrvi1 UTSW 7 110895854 missense probably damaging 1.00
R7304:Mrvi1 UTSW 7 110899724 missense possibly damaging 0.77
R7412:Mrvi1 UTSW 7 110923756 missense probably benign 0.06
R7420:Mrvi1 UTSW 7 110871473 nonsense probably null
X0065:Mrvi1 UTSW 7 110924044 missense probably benign 0.31
Posted On2015-04-16