Incidental Mutation 'IGL01355:Sdad1'
ID 75505
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: 0.968) question?
Stock # IGL01355
Quality Score
Status
Chromosome 5
Chromosomal Location 92431869-92457883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92450538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000144446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031364] [ENSMUST00000201143] [ENSMUST00000202870]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031364
AA Change: V199A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: V199A

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: ENSMUST00000157998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201084
Predicted Effect probably damaging
Transcript: ENSMUST00000201143
AA Change: V199A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: V199A

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: ENSMUST00000201532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202680
Predicted Effect probably benign
Transcript: ENSMUST00000202870
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C T 4: 153,470,938 (GRCm39) V290I probably damaging Het
Ankrd12 A G 17: 66,277,335 (GRCm39) probably benign Het
Anxa4 A T 6: 86,729,187 (GRCm39) I140N probably damaging Het
Asap2 A G 12: 21,268,087 (GRCm39) probably benign Het
Cd36 C T 5: 18,018,072 (GRCm39) V214I possibly damaging Het
Col24a1 T C 3: 145,020,637 (GRCm39) L336S probably benign Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Gpr146 A T 5: 139,364,659 (GRCm39) probably benign Het
Irf1 T C 11: 53,665,187 (GRCm39) V188A probably benign Het
Limk1 G A 5: 134,686,754 (GRCm39) probably benign Het
Mcidas T C 13: 113,135,603 (GRCm39) F342S probably damaging Het
Mctp1 A G 13: 76,533,074 (GRCm39) T141A probably benign Het
Mnd1 C A 3: 84,023,784 (GRCm39) A101S probably benign Het
Nsun7 T C 5: 66,452,211 (GRCm39) S466P probably damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or4g16 T A 2: 111,137,438 (GRCm39) I296K probably benign Het
Or52z12 A G 7: 103,233,580 (GRCm39) E117G probably damaging Het
Pik3c2g G T 6: 139,798,583 (GRCm39) G371V probably damaging Het
Spg11 C T 2: 121,943,637 (GRCm39) V172I probably benign Het
Tas2r108 A G 6: 40,470,685 (GRCm39) T54A possibly damaging Het
Tmem121b A G 6: 120,469,427 (GRCm39) L430P probably damaging Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Trank1 A G 9: 111,194,588 (GRCm39) T871A possibly damaging Het
Vegfa T C 17: 46,336,347 (GRCm39) M258V possibly damaging Het
Zbtb49 A G 5: 38,367,960 (GRCm39) probably null Het
Other mutations in Sdad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Sdad1 APN 5 92,451,632 (GRCm39) splice site probably null
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
IGL02739:Sdad1 APN 5 92,437,931 (GRCm39) missense probably benign 0.43
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 2013-10-07