Incidental Mutation 'IGL03093:Add3'
ID418451
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 #IGL03093
Quality Score
Status
Chromosome19
Chromosomal Location53140445-53247399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53231207 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 121 (D121G)
Ref Sequence ENSEMBL: ENSMUSP00000107370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025999] [ENSMUST00000050096] [ENSMUST00000111741]
Predicted Effect probably damaging
Transcript: ENSMUST00000025999
AA Change: D121G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025999
Gene: ENSMUSG00000025026
AA Change: D121G

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 damaging
Transcript: ENSMUST00000050096
AA Change: D121G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052245
Gene: ENSMUSG00000025026
AA Change: D121G

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 damaging
Transcript: ENSMUST00000111741
AA Change: D121G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107370
Gene: ENSMUSG00000025026
AA Change: D121G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s A G 1: 136,116,064 D1380G probably benign Het
Clca3a1 T C 3: 144,747,501 Y487C probably damaging Het
Coro2a A G 4: 46,544,158 S278P possibly damaging Het
Creb3l3 A G 10: 81,091,213 S128P probably benign Het
Dab2 A G 15: 6,436,411 R697G probably damaging Het
Erap1 T C 13: 74,675,280 F811S probably benign Het
Fam170b A G 14: 32,835,525 S106G probably damaging Het
Galk2 T C 2: 125,929,643 L196P probably damaging Het
Gan T C 8: 117,183,575 M81T probably benign Het
Gemin2 A G 12: 59,021,725 T197A probably benign Het
Hemgn A T 4: 46,396,504 M244K probably benign Het
Htr6 A G 4: 139,061,769 F325S probably damaging Het
Igkv9-120 A G 6: 68,050,414 D104G probably damaging Het
Itpr2 A C 6: 146,379,510 I216S probably damaging Het
Lingo1 T C 9: 56,619,464 I614V possibly damaging Het
Mep1b C T 18: 21,093,653 T524M probably benign Het
Mtif2 A G 11: 29,530,702 probably benign Het
Mylk G A 16: 34,912,192 R614H possibly damaging Het
Olfr601 T C 7: 103,358,239 probably benign Het
Olfr706 T C 7: 106,886,203 T205A probably benign Het
Pabpc4 G A 4: 123,286,709 D75N probably damaging Het
Paics T A 5: 76,961,508 probably null Het
Prl T A 13: 27,064,887 I172N probably benign Het
Ripk2 A G 4: 16,152,056 S168P probably damaging Het
Siglecf T C 7: 43,352,441 V225A probably damaging Het
Slc36a1 A G 11: 55,219,604 I86V probably benign Het
Slc6a13 A G 6: 121,332,448 Y306C probably damaging Het
Soat2 T A 15: 102,157,643 L250Q probably damaging Het
Tex38 A G 4: 115,780,565 S14P probably damaging Het
Tm2d1 A T 4: 98,380,684 C59S possibly damaging Het
Tmco1 A G 1: 167,316,279 D82G probably damaging Het
Tmem245 G A 4: 56,886,019 R866W probably damaging Het
Tnip1 G T 11: 54,940,826 Y7* probably null Het
Trp73 A G 4: 154,104,873 M48T probably benign Het
Tslp T C 18: 32,815,559 probably benign Het
Usp47 T C 7: 112,089,620 F745L probably damaging Het
Vmn2r53 T A 7: 12,600,864 T290S probably benign Het
Wdr1 T C 5: 38,561,129 D30G probably benign Het
Zkscan2 T C 7: 123,494,850 Y247C probably benign Het
Other mutations in Add3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Add3 APN 19 53239430 missense probably damaging 1.00
IGL02177:Add3 APN 19 53216892 nonsense probably null
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 On2016-08-02