Incidental Mutation 'IGL02739:Sdad1'
ID 305820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdad1
Ensembl Gene ENSMUSG00000029415
Gene Name SDA1 domain containing 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL02739
Quality Score
Status
Chromosome 5
Chromosomal Location 92431869-92457883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 92437931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 539 (A539T)
Ref Sequence ENSEMBL: ENSMUSP00000144446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031364] [ENSMUST00000201143]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031364
AA Change: A540T

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: A540T

DomainStartEndE-ValueType
Pfam:NUC130_3NT 62 113 3.3e-28 PFAM
low complexity region 116 126 N/A INTRINSIC
low complexity region 146 163 N/A INTRINSIC
low complexity region 224 239 N/A INTRINSIC
low complexity region 254 278 N/A INTRINSIC
Pfam:SDA1 409 532 2.4e-41 PFAM
Pfam:SDA1 519 685 2.8e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201084
Predicted Effect probably benign
Transcript: ENSMUST00000201143
AA Change: A539T

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: A539T

DomainStartEndE-ValueType
Pfam:NUC130_3NT 62 113 5.3e-24 PFAM
low complexity region 116 126 N/A INTRINSIC
low complexity region 146 163 N/A INTRINSIC
low complexity region 224 239 N/A INTRINSIC
low complexity region 254 277 N/A INTRINSIC
Pfam:SDA1 408 531 3.9e-37 PFAM
Pfam:SDA1 518 684 4.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202903
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A probably damaging Het
Other mutations in Sdad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Sdad1 APN 5 92,451,632 (GRCm39) splice site probably null
IGL01355:Sdad1 APN 5 92,450,538 (GRCm39) missense probably damaging 1.00
IGL01635:Sdad1 APN 5 92,445,019 (GRCm39) missense probably damaging 0.98
IGL02166:Sdad1 APN 5 92,439,621 (GRCm39) missense probably benign 0.03
IGL02503:Sdad1 APN 5 92,449,661 (GRCm39) unclassified probably benign
PIT4468001:Sdad1 UTSW 5 92,439,777 (GRCm39) missense probably damaging 1.00
R0583:Sdad1 UTSW 5 92,452,923 (GRCm39) missense probably damaging 0.97
R1169:Sdad1 UTSW 5 92,446,092 (GRCm39) missense probably benign 0.32
R1496:Sdad1 UTSW 5 92,457,682 (GRCm39) missense possibly damaging 0.94
R1844:Sdad1 UTSW 5 92,453,155 (GRCm39) nonsense probably null
R1848:Sdad1 UTSW 5 92,440,510 (GRCm39) critical splice donor site probably null
R2419:Sdad1 UTSW 5 92,453,677 (GRCm39) missense possibly damaging 0.69
R2497:Sdad1 UTSW 5 92,447,958 (GRCm39) missense probably benign 0.00
R2509:Sdad1 UTSW 5 92,453,684 (GRCm39) missense probably benign 0.12
R4043:Sdad1 UTSW 5 92,450,553 (GRCm39) missense probably damaging 0.96
R4384:Sdad1 UTSW 5 92,446,116 (GRCm39) missense probably benign 0.01
R4477:Sdad1 UTSW 5 92,445,019 (GRCm39) missense probably damaging 0.98
R4478:Sdad1 UTSW 5 92,445,019 (GRCm39) missense probably damaging 0.98
R4734:Sdad1 UTSW 5 92,452,836 (GRCm39) missense possibly damaging 0.61
R4749:Sdad1 UTSW 5 92,452,836 (GRCm39) missense possibly damaging 0.61
R5135:Sdad1 UTSW 5 92,451,793 (GRCm39) missense probably benign 0.00
R5288:Sdad1 UTSW 5 92,434,684 (GRCm39) makesense probably null
R6331:Sdad1 UTSW 5 92,451,789 (GRCm39) missense probably damaging 1.00
R7038:Sdad1 UTSW 5 92,446,049 (GRCm39) critical splice donor site probably null
R7099:Sdad1 UTSW 5 92,441,832 (GRCm39) missense possibly damaging 0.89
R7420:Sdad1 UTSW 5 92,453,596 (GRCm39) missense possibly damaging 0.91
R7425:Sdad1 UTSW 5 92,447,980 (GRCm39) missense probably benign 0.10
R7714:Sdad1 UTSW 5 92,450,538 (GRCm39) missense probably damaging 1.00
R8048:Sdad1 UTSW 5 92,447,948 (GRCm39) missense probably benign 0.01
R8198:Sdad1 UTSW 5 92,439,811 (GRCm39) missense probably damaging 0.96
R8347:Sdad1 UTSW 5 92,446,088 (GRCm39) missense probably benign 0.00
R8693:Sdad1 UTSW 5 92,452,857 (GRCm39) missense probably benign 0.09
R8696:Sdad1 UTSW 5 92,437,645 (GRCm39) missense probably damaging 1.00
R8746:Sdad1 UTSW 5 92,437,784 (GRCm39) missense probably benign
R9004:Sdad1 UTSW 5 92,439,820 (GRCm39) missense probably benign 0.00
R9166:Sdad1 UTSW 5 92,446,080 (GRCm39) nonsense probably null
R9732:Sdad1 UTSW 5 92,438,942 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16