Incidental Mutation 'IGL02177:Add3'
ID283159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Add3
Ensembl Gene ENSMUSG00000025026
Gene Nameadducin 3 (gamma)
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02177
Quality Score
Status
Chromosome19
Chromosomal Location53140445-53247399 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to G at 53216892 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 24 (Y24*)
Ref Sequence ENSEMBL: ENSMUSP00000107370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025999] [ENSMUST00000050096] [ENSMUST00000111741]
Predicted Effect probably null
Transcript: ENSMUST00000025999
AA Change: Y24*
SMART Domains Protein: ENSMUSP00000025999
Gene: ENSMUSG00000025026
AA Change: Y24*

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Aldolase_II 139 321 1.62e-46 SMART
coiled coil region 556 582 N/A INTRINSIC
low complexity region 590 605 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
low complexity region 673 703 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000050096
AA Change: Y24*
SMART Domains Protein: ENSMUSP00000052245
Gene: ENSMUSG00000025026
AA Change: Y24*

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Aldolase_II 139 321 1.62e-46 SMART
low complexity region 618 630 N/A INTRINSIC
low complexity region 641 671 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111741
AA Change: Y24*
SMART Domains Protein: ENSMUSP00000107370
Gene: ENSMUSG00000025026
AA Change: Y24*

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Aldolase_II 139 321 1.62e-46 SMART
coiled coil region 556 582 N/A INTRINSIC
low complexity region 590 605 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
low complexity region 673 703 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Catsperb A G 12: 101,541,462 Y496C probably damaging Het
Ccdc183 C T 2: 25,612,083 E260K probably benign Het
Ccdc81 A C 7: 89,875,780 M531R possibly damaging Het
Cyp3a16 T A 5: 145,450,154 N342I probably benign Het
Defb43 T C 14: 63,011,817 V3A probably benign Het
Dpyd T A 3: 119,064,910 I591N possibly damaging Het
Dpysl5 T G 5: 30,745,278 V18G probably damaging Het
Erc2 A T 14: 27,898,623 M69L probably benign Het
Fam184b G T 5: 45,532,815 Y817* probably null Het
Fyb G T 15: 6,658,566 probably null Het
Gpr33 G T 12: 52,024,080 Q59K probably benign Het
Heatr3 T G 8: 88,156,723 F278V probably benign Het
Hectd1 A T 12: 51,772,320 D1292E probably damaging Het
Herc1 A T 9: 66,434,511 M1861L probably benign Het
Hspg2 T A 4: 137,515,316 L614Q probably damaging Het
Itpr3 A G 17: 27,099,614 R915G possibly damaging Het
Jhy T C 9: 40,898,257 D646G probably damaging Het
Lrig1 T A 6: 94,663,996 N76I possibly damaging Het
Macc1 A G 12: 119,465,557 D814G probably damaging Het
Mapk8ip1 T C 2: 92,386,747 D401G probably damaging Het
Nedd4 T A 9: 72,747,157 S865T probably damaging Het
Olfr1412 G A 1: 92,588,757 M142I possibly damaging Het
Pi4ka A T 16: 17,318,282 D937E probably benign Het
Prkcd T A 14: 30,605,887 I81F probably damaging Het
Ranbp9 A T 13: 43,419,717 C280S probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scn1b T C 7: 31,117,230 *219W probably null Het
Slain2 T C 5: 72,914,665 V14A probably benign Het
Soat1 A T 1: 156,440,503 probably benign Het
Tbc1d4 T A 14: 101,454,939 M1030L possibly damaging Het
Tenm4 T C 7: 96,895,662 V2295A probably benign Het
Tmem135 A G 7: 89,338,453 Y46H probably damaging Het
Tnfsf18 A T 1: 161,503,785 D168V probably damaging Het
Trdn T C 10: 33,139,173 V41A probably damaging Het
Trpc5 G T X: 144,481,238 L208I probably damaging Het
Vmn1r50 T C 6: 90,108,157 Y295H probably benign Het
Vmn2r18 T G 5: 151,586,809 H33P possibly damaging Het
Vmn2r84 T C 10: 130,392,012 I118M probably benign Het
Other mutations in Add3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Add3 APN 19 53239430 missense probably damaging 1.00
IGL03093:Add3 APN 19 53231207 missense probably damaging 1.00
IGL03047:Add3 UTSW 19 53242591 missense probably benign 0.00
PIT4243001:Add3 UTSW 19 53236690 missense probably benign 0.00
PIT4366001:Add3 UTSW 19 53216867 missense unknown
R0087:Add3 UTSW 19 53226607 missense probably damaging 1.00
R0335:Add3 UTSW 19 53236828 missense probably benign 0.00
R0346:Add3 UTSW 19 53216956 nonsense probably null
R0514:Add3 UTSW 19 53236843 nonsense probably null
R0692:Add3 UTSW 19 53216952 missense probably damaging 1.00
R1437:Add3 UTSW 19 53233678 missense probably damaging 0.98
R1747:Add3 UTSW 19 53242550 missense probably benign 0.41
R2926:Add3 UTSW 19 53226822 splice site probably null
R4192:Add3 UTSW 19 53242524 missense probably benign 0.00
R4780:Add3 UTSW 19 53234792 missense possibly damaging 0.64
R5019:Add3 UTSW 19 53242571 missense probably damaging 0.99
R5486:Add3 UTSW 19 53244387 missense probably benign 0.00
R5526:Add3 UTSW 19 53226607 missense probably damaging 1.00
R5580:Add3 UTSW 19 53245211 missense probably damaging 1.00
R5851:Add3 UTSW 19 53236774 missense probably damaging 1.00
R5863:Add3 UTSW 19 53233870 missense probably benign 0.00
R5951:Add3 UTSW 19 53244289 splice site probably null
R6229:Add3 UTSW 19 53234846 missense probably benign 0.35
R7017:Add3 UTSW 19 53233853 missense possibly damaging 0.94
R7190:Add3 UTSW 19 53216899 nonsense probably null
R7222:Add3 UTSW 19 53216846 missense unknown
R7231:Add3 UTSW 19 53233146 missense probably benign 0.00
R7532:Add3 UTSW 19 53232158 missense probably damaging 1.00
R7557:Add3 UTSW 19 53239437 missense probably damaging 0.98
R7726:Add3 UTSW 19 53239461 missense probably damaging 1.00
Posted On2015-04-16