Incidental Mutation 'IGL02689:Atraid'
ID 303660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atraid
Ensembl Gene ENSMUSG00000013622
Gene Name all-trans retinoic acid induced differentiation factor
Synonyms 0610007C21Rik, HSPC013, p18
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL02689
Quality Score
Status
Chromosome 5
Chromosomal Location 31205984-31211977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31209826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 46 (L46P)
Ref Sequence ENSEMBL: ENSMUSP00000143956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013766] [ENSMUST00000013773] [ENSMUST00000080431] [ENSMUST00000114668] [ENSMUST00000201174] [ENSMUST00000201136] [ENSMUST00000201773] [ENSMUST00000200942] [ENSMUST00000201838] [ENSMUST00000202795] [ENSMUST00000200953] [ENSMUST00000200816] [ENSMUST00000201182] [ENSMUST00000202556] [ENSMUST00000202520]
AlphaFold Q6PGD0
Predicted Effect probably damaging
Transcript: ENSMUST00000013766
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013766
Gene: ENSMUSG00000013622
AA Change: L99P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 149 187 2.03e1 SMART
transmembrane domain 192 214 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000013773
SMART Domains Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 4.7e-47 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:ATP-grasp_4 511 692 1.2e-15 PFAM
Pfam:CPSase_L_D2 514 718 1.8e-85 PFAM
Pfam:ATP-grasp 522 690 1.5e-9 PFAM
Pfam:Dala_Dala_lig_C 527 687 2.2e-10 PFAM
CPSase_L_D3 798 921 9.7e-59 SMART
Pfam:ATP-grasp_4 1044 1223 1.8e-23 PFAM
Pfam:CPSase_L_D2 1047 1250 3.1e-28 PFAM
Pfam:Dala_Dala_lig_C 1054 1242 2.3e-7 PFAM
Pfam:ATP-grasp 1055 1222 2.1e-12 PFAM
MGS 1327 1428 1.35e-7 SMART
Pfam:Amidohydro_1 1462 1730 7.4e-12 PFAM
low complexity region 1820 1839 N/A INTRINSIC
low complexity region 1864 1880 N/A INTRINSIC
Pfam:OTCace_N 1924 2065 1.9e-44 PFAM
Pfam:OTCace 2071 2221 7.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080431
SMART Domains Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:SSF 58 462 7.9e-41 PFAM
low complexity region 496 506 N/A INTRINSIC
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 562 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114668
SMART Domains Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:SSF 58 462 7.9e-41 PFAM
low complexity region 496 506 N/A INTRINSIC
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 562 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200748
AA Change: L82P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200800
Predicted Effect probably damaging
Transcript: ENSMUST00000201174
AA Change: L46P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000201136
AA Change: L46P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144085
Gene: ENSMUSG00000013622
AA Change: L46P

DomainStartEndE-ValueType
EGF 96 134 2.03e1 SMART
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201887
Predicted Effect probably benign
Transcript: ENSMUST00000201773
SMART Domains Protein: ENSMUSP00000144333
Gene: ENSMUSG00000013622

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200942
Predicted Effect probably benign
Transcript: ENSMUST00000201838
SMART Domains Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 6.3e-48 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:ATP-grasp_4 511 692 1.9e-16 PFAM
Pfam:CPSase_L_D2 514 718 3.7e-86 PFAM
Pfam:ATP-grasp 522 690 2.5e-10 PFAM
Pfam:Dala_Dala_lig_C 526 687 4.2e-11 PFAM
CPSase_L_D3 798 921 9.7e-59 SMART
SCOP:d1a9xa3 935 964 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202795
SMART Domains Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 1.9e-47 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:ATP-grasp_4 511 692 5.9e-16 PFAM
Pfam:CPSase_L_D2 514 718 1.2e-85 PFAM
Pfam:ATP-grasp 522 690 7.3e-10 PFAM
Pfam:Dala_Dala_lig_C 527 687 1.3e-10 PFAM
CPSase_L_D3 798 921 9.7e-59 SMART
Pfam:ATP-grasp_4 1044 1223 8.9e-24 PFAM
Pfam:CPSase_L_D2 1047 1250 2.1e-28 PFAM
Pfam:Dala_Dala_lig_C 1054 1242 1.3e-7 PFAM
Pfam:ATP-grasp 1055 1222 1.1e-12 PFAM
MGS 1327 1428 1.35e-7 SMART
Pfam:Amidohydro_1 1462 1730 2.5e-11 PFAM
low complexity region 1820 1839 N/A INTRINSIC
low complexity region 1864 1880 N/A INTRINSIC
Pfam:OTCace_N 1970 2004 4.6e-11 PFAM
Pfam:OTCace 2010 2160 9.9e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200953
SMART Domains Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 4.5e-47 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:CPSase_L_D2 514 616 1.5e-34 PFAM
Pfam:Dala_Dala_lig_C 527 625 2.4e-7 PFAM
Pfam:CPSase_L_D2 614 655 4.9e-15 PFAM
CPSase_L_D3 735 858 9.7e-59 SMART
Pfam:ATP-grasp_4 981 1160 1.7e-23 PFAM
Pfam:CPSase_L_D2 984 1187 3e-28 PFAM
Pfam:Dala_Dala_lig_C 991 1179 2.3e-7 PFAM
Pfam:ATP-grasp 992 1159 2.1e-12 PFAM
MGS 1264 1365 1.35e-7 SMART
Pfam:Amidohydro_1 1399 1667 7.1e-12 PFAM
low complexity region 1757 1776 N/A INTRINSIC
low complexity region 1801 1817 N/A INTRINSIC
Pfam:OTCace_N 1861 2002 1.8e-44 PFAM
Pfam:OTCace 2008 2158 7.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200816
SMART Domains Protein: ENSMUSP00000144665
Gene: ENSMUSG00000006641

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201182
SMART Domains Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629

DomainStartEndE-ValueType
CPSase_sm_chain 1 139 8.81e-80 SMART
Pfam:GATase 179 356 4.5e-47 PFAM
low complexity region 397 407 N/A INTRINSIC
Pfam:ATP-grasp_4 511 692 1.1e-15 PFAM
Pfam:CPSase_L_D2 514 718 1.7e-85 PFAM
Pfam:ATP-grasp 522 690 1.4e-9 PFAM
Pfam:Dala_Dala_lig_C 527 687 2.1e-10 PFAM
CPSase_L_D3 798 921 9.7e-59 SMART
Pfam:ATP-grasp_4 1044 1223 1.7e-23 PFAM
Pfam:CPSase_L_D2 1047 1250 3e-28 PFAM
Pfam:Dala_Dala_lig_C 1054 1242 2.3e-7 PFAM
Pfam:ATP-grasp 1055 1222 2.1e-12 PFAM
MGS 1327 1428 1.35e-7 SMART
Pfam:Amidohydro_1 1462 1730 7.1e-12 PFAM
low complexity region 1820 1839 N/A INTRINSIC
low complexity region 1864 1880 N/A INTRINSIC
Pfam:OTCace_N 1949 1994 1.4e-11 PFAM
Pfam:OTCace 2000 2150 7.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202556
SMART Domains Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:SSF 58 462 7.9e-41 PFAM
low complexity region 496 506 N/A INTRINSIC
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 562 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202520
SMART Domains Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:SSF 58 462 7.9e-41 PFAM
low complexity region 496 506 N/A INTRINSIC
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 562 573 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.] This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice heterozygous or homozygous for a gene trap mutation exhibit cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 G T 4: 86,835,692 (GRCm39) A235S probably benign Het
Add2 A G 6: 86,084,388 (GRCm39) I479V possibly damaging Het
Anapc11 T A 11: 120,490,168 (GRCm39) M28K probably benign Het
Anapc15-ps T C 10: 95,508,993 (GRCm39) S87G probably benign Het
Ccdc80 T A 16: 44,916,772 (GRCm39) Y509* probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cecr2 T A 6: 120,739,128 (GRCm39) L1257Q probably damaging Het
Csn1s2b A G 5: 87,957,780 (GRCm39) I5V probably benign Het
Dhps T C 8: 85,800,379 (GRCm39) Y221H possibly damaging Het
Dmxl1 T C 18: 49,997,962 (GRCm39) S717P probably damaging Het
Dppa5a G T 9: 78,275,113 (GRCm39) S63Y probably damaging Het
Eif3l A T 15: 78,970,719 (GRCm39) D331V possibly damaging Het
Folh1 G T 7: 86,412,253 (GRCm39) probably null Het
Gbp9 G T 5: 105,253,662 (GRCm39) Q18K probably benign Het
Grm5 A G 7: 87,251,918 (GRCm39) K56R probably damaging Het
H2-M3 T A 17: 37,581,432 (GRCm39) Y31* probably null Het
Herc2 T C 7: 55,815,031 (GRCm39) probably benign Het
Itga7 G T 10: 128,782,687 (GRCm39) A675S possibly damaging Het
Lipo5 G A 19: 33,445,186 (GRCm39) H128Y unknown Het
Or2bd2 T C 7: 6,443,574 (GRCm39) L225P possibly damaging Het
Or5b121 A G 19: 13,507,171 (GRCm39) I89V probably benign Het
Pdk4 C T 6: 5,487,408 (GRCm39) V281I probably benign Het
Pkn3 G A 2: 29,970,858 (GRCm39) G202D probably damaging Het
Rcbtb1 A G 14: 59,462,149 (GRCm39) N260S probably damaging Het
Sipa1l1 T C 12: 82,487,594 (GRCm39) F1623L probably benign Het
Slfn8 A G 11: 82,907,934 (GRCm39) F203S probably damaging Het
St6gal2 T C 17: 55,789,596 (GRCm39) L210S probably damaging Het
Taf5 T C 19: 47,065,704 (GRCm39) probably benign Het
Taok2 A G 7: 126,475,270 (GRCm39) F226S probably damaging Het
Timm10b A G 7: 105,289,839 (GRCm39) probably benign Het
Tmx3 A G 18: 90,555,240 (GRCm39) N319S possibly damaging Het
Trmt1 G T 8: 85,426,385 (GRCm39) probably benign Het
Other mutations in Atraid
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02794:Atraid APN 5 31,210,214 (GRCm39) missense probably damaging 1.00
R0528:Atraid UTSW 5 31,209,796 (GRCm39) unclassified probably benign
R0682:Atraid UTSW 5 31,209,612 (GRCm39) missense probably damaging 1.00
R4085:Atraid UTSW 5 31,209,650 (GRCm39) unclassified probably benign
R5213:Atraid UTSW 5 31,209,552 (GRCm39) missense probably damaging 1.00
R6200:Atraid UTSW 5 31,210,210 (GRCm39) missense probably damaging 1.00
R7214:Atraid UTSW 5 31,209,590 (GRCm39) nonsense probably null
R8121:Atraid UTSW 5 31,211,642 (GRCm39) splice site probably null
R8756:Atraid UTSW 5 31,211,385 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16