Incidental Mutation 'IGL01370:Add1'
ID76109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Add1
Ensembl Gene ENSMUSG00000029106
Gene Nameadducin 1 (alpha)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #IGL01370
Quality Score
Status
Chromosome5
Chromosomal Location34573664-34632308 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34630515 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 210 (T210I)
Ref Sequence ENSEMBL: ENSMUSP00000144673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001108] [ENSMUST00000001109] [ENSMUST00000052836] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000114335] [ENSMUST00000114338] [ENSMUST00000114340] [ENSMUST00000126257] [ENSMUST00000134156] [ENSMUST00000137150] [ENSMUST00000137506] [ENSMUST00000149657] [ENSMUST00000155577] [ENSMUST00000201147] [ENSMUST00000201810] [ENSMUST00000202378]
Predicted Effect probably benign
Transcript: ENSMUST00000001108
SMART Domains Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Aldolase_II 147 329 5.49e-58 SMART
coiled coil region 599 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000001109
SMART Domains Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 413 6.9e-41 PFAM
Pfam:Sugar_tr 62 235 7.9e-9 PFAM
transmembrane domain 422 444 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052836
SMART Domains Protein: ENSMUSP00000052266
Gene: ENSMUSG00000029106

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Aldolase_II 147 329 5.49e-58 SMART
coiled coil region 599 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114329
SMART Domains Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 413 6.8e-41 PFAM
Pfam:Sugar_tr 71 228 2.3e-9 PFAM
transmembrane domain 422 444 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114331
SMART Domains Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 413 6.8e-41 PFAM
Pfam:Sugar_tr 71 228 2.3e-9 PFAM
transmembrane domain 422 444 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114335
SMART Domains Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Aldolase_II 147 329 5.49e-58 SMART
coiled coil region 597 629 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114338
SMART Domains Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Aldolase_II 147 329 5.49e-58 SMART
coiled coil region 568 600 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114340
AA Change: T636I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: T636I

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Aldolase_II 147 329 5.49e-58 SMART
coiled coil region 568 600 N/A INTRINSIC
low complexity region 666 685 N/A INTRINSIC
low complexity region 698 719 N/A INTRINSIC
low complexity region 727 733 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126257
SMART Domains Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 139 5.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130347
Predicted Effect probably benign
Transcript: ENSMUST00000134156
SMART Domains Protein: ENSMUSP00000143812
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136010
Predicted Effect probably benign
Transcript: ENSMUST00000137150
SMART Domains Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137262
Predicted Effect probably benign
Transcript: ENSMUST00000137506
SMART Domains Protein: ENSMUSP00000144121
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 31 50 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148270
Predicted Effect probably benign
Transcript: ENSMUST00000149657
SMART Domains Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 261 1.3e-26 PFAM
Pfam:Sugar_tr 71 228 9.3e-10 PFAM
Pfam:TRI12 76 232 3.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151247
Predicted Effect probably benign
Transcript: ENSMUST00000152805
SMART Domains Protein: ENSMUSP00000121402
Gene: ENSMUSG00000029106

DomainStartEndE-ValueType
coiled coil region 95 127 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155577
SMART Domains Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 269 1.1e-27 PFAM
Pfam:Sugar_tr 71 228 9.6e-10 PFAM
Pfam:TRI12 76 232 3.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200717
Predicted Effect probably benign
Transcript: ENSMUST00000201147
SMART Domains Protein: ENSMUSP00000144239
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
low complexity region 80 95 N/A INTRINSIC
low complexity region 104 130 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201810
AA Change: T210I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106
AA Change: T210I

DomainStartEndE-ValueType
coiled coil region 142 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202065
Predicted Effect probably benign
Transcript: ENSMUST00000202378
SMART Domains Protein: ENSMUSP00000144117
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
transmembrane domain 24 43 N/A INTRINSIC
transmembrane domain 96 118 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 a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted gene deletion leads to reduced growth and compensated hemolytic anemia. RBCs are osmotically fragile, dehydrated, and spherocytic with severe loss of membrane surface area and reduced MCV. ~50% of homozygotes develop lethal hydrocephaly with dilation of the lateral, 3rd, and 4th ventricles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,947,755 I1283N probably benign Het
Adck1 A T 12: 88,456,733 probably benign Het
Alpk2 A T 18: 65,350,591 D115E possibly damaging Het
Ankrd36 C T 11: 5,584,019 T290I probably benign Het
Ccnt2 T C 1: 127,803,513 F709S possibly damaging Het
Erc1 T C 6: 119,824,465 E197G probably damaging Het
Ftsj3 G T 11: 106,252,319 R390S possibly damaging Het
Gabrb3 G A 7: 57,816,478 A347T probably benign Het
Gatsl2 T C 5: 134,138,272 V323A probably benign Het
Gde1 A G 7: 118,689,160 probably benign Het
Gm996 T C 2: 25,578,957 E314G possibly damaging Het
Jhy A T 9: 40,917,142 N489K probably benign Het
Kiss1r A G 10: 79,918,824 T51A probably benign Het
Lama5 T C 2: 180,197,400 S772G possibly damaging Het
Lamb2 G T 9: 108,487,733 probably null Het
Loxl3 A G 6: 83,049,487 T475A probably damaging Het
Lpl A T 8: 68,887,568 S72C possibly damaging Het
Lrrc74a A T 12: 86,754,430 I352F probably damaging Het
Mcoln2 T C 3: 146,181,830 I334T possibly damaging Het
Mettl8 T G 2: 70,982,039 D49A probably damaging Het
Ms4a3 T A 19: 11,632,881 T106S probably benign Het
Obscn T A 11: 58,995,563 probably null Het
Olfr108 C A 17: 37,445,714 H64Q probably benign Het
Olfr113 T C 17: 37,574,521 I301V probably null Het
Olfr1461 A T 19: 13,165,299 Y95F possibly damaging Het
Olfr406 G A 11: 74,269,499 V37I probably benign Het
Olfr732 G T 14: 50,282,232 T7K probably damaging Het
Pcnx2 T C 8: 125,801,483 K1333E probably damaging Het
Pias3 T C 3: 96,703,575 F364L probably damaging Het
Piezo2 T A 18: 63,022,460 I2438F probably damaging Het
Plcb3 A C 19: 6,962,824 V465G probably damaging Het
Plekho2 G T 9: 65,558,630 H159N probably damaging Het
Polr2e A G 10: 80,036,847 probably benign Het
Rab6b G T 9: 103,163,895 V163L probably benign Het
Rabep1 A G 11: 70,925,781 M597V probably benign Het
Rbm15 A G 3: 107,331,010 S691P probably damaging Het
Sec24b G A 3: 130,007,604 probably benign Het
Slc6a18 A G 13: 73,667,031 I386T probably damaging Het
Stxbp3 A C 3: 108,797,425 Y497* probably null Het
Styk1 T C 6: 131,301,652 K353R probably damaging Het
Tbc1d10b A T 7: 127,199,081 H629Q probably damaging Het
Tbc1d5 T A 17: 50,966,727 I119F probably benign Het
Tcp11l1 G T 2: 104,706,486 D11E probably benign Het
Tfap2d A G 1: 19,104,785 Y154C probably damaging Het
Tgm5 T C 2: 121,053,537 N325S probably benign Het
Thbs2 T C 17: 14,690,065 K91E possibly damaging Het
Vmn2r26 T A 6: 124,061,756 F763L probably benign Het
Washc4 A G 10: 83,558,830 E308G probably damaging Het
Xpot C A 10: 121,604,494 A611S probably benign Het
Other mutations in Add1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Add1 APN 5 34613358 missense probably damaging 1.00
IGL01670:Add1 APN 5 34620063 missense probably damaging 1.00
IGL02965:Add1 APN 5 34620123 missense probably damaging 0.99
IGL03178:Add1 APN 5 34614245 unclassified probably null
R0126:Add1 UTSW 5 34613579 missense probably benign 0.04
R0189:Add1 UTSW 5 34616648 missense probably benign 0.01
R0195:Add1 UTSW 5 34610646 unclassified probably benign
R0318:Add1 UTSW 5 34625340 missense probably damaging 0.99
R0605:Add1 UTSW 5 34614224 missense possibly damaging 0.87
R0624:Add1 UTSW 5 34605853 missense probably damaging 1.00
R1514:Add1 UTSW 5 34610617 missense probably benign 0.03
R1573:Add1 UTSW 5 34601396 missense possibly damaging 0.89
R2512:Add1 UTSW 5 34616686 missense probably benign 0.02
R2965:Add1 UTSW 5 34630714 missense probably benign 0.00
R2966:Add1 UTSW 5 34630714 missense probably benign 0.00
R5646:Add1 UTSW 5 34630680 missense probably benign 0.10
R5993:Add1 UTSW 5 34601533 missense probably damaging 1.00
R6356:Add1 UTSW 5 34619396 missense probably null 1.00
R6514:Add1 UTSW 5 34605973 missense probably damaging 1.00
R6536:Add1 UTSW 5 34601436 missense possibly damaging 0.89
R6659:Add1 UTSW 5 34613295 missense possibly damaging 0.94
R7326:Add1 UTSW 5 34619371 missense probably benign 0.32
R7473:Add1 UTSW 5 34619353 missense possibly damaging 0.84
Z1088:Add1 UTSW 5 34613400 nonsense probably null
Posted On2013-10-07