Incidental Mutation 'IGL02166:Sdad1'
ID 282706
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 # IGL02166
Quality Score
Status
Chromosome 5
Chromosomal Location 92431869-92457883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92439621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 433 (T433I)
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: T434I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: T434I

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: T433I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: T433I

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aopep A G 13: 63,163,267 (GRCm39) H96R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cdh8 T C 8: 99,917,083 (GRCm39) D344G probably damaging Het
Ciao3 A G 17: 25,999,294 (GRCm39) D236G possibly damaging Het
Cltc T C 11: 86,594,914 (GRCm39) I1399V probably benign Het
Col4a1 A T 8: 11,294,509 (GRCm39) probably benign Het
Crtc3 C T 7: 80,327,147 (GRCm39) G60R probably damaging Het
Dscaml1 G A 9: 45,594,999 (GRCm39) V701M probably damaging Het
Eif3b T A 5: 140,425,705 (GRCm39) C632S possibly damaging Het
Ephb3 G A 16: 21,039,499 (GRCm39) R417Q probably damaging Het
Fpr3 T C 17: 18,190,726 (GRCm39) probably benign Het
Hpdl A G 4: 116,678,149 (GRCm39) V104A probably damaging Het
Ighv1-55 T C 12: 115,171,840 (GRCm39) S76G probably benign Het
Ikbip T C 10: 90,931,652 (GRCm39) S99P probably damaging Het
Lnpk T C 2: 74,360,061 (GRCm39) E318G probably damaging Het
Lrrc66 G A 5: 73,764,634 (GRCm39) T803M probably damaging Het
Nxf2 C A X: 133,857,878 (GRCm39) W89L possibly damaging Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or5d46 A T 2: 88,170,022 (GRCm39) I38F probably damaging Het
Or6c3b T A 10: 129,527,782 (GRCm39) I43F probably benign Het
Osbp2 A T 11: 3,667,983 (GRCm39) C5S probably damaging Het
Ovol2 T C 2: 144,147,650 (GRCm39) N200S possibly damaging Het
Ppp4r1 A G 17: 66,120,487 (GRCm39) D207G probably benign Het
Prdm11 C T 2: 92,843,208 (GRCm39) V84M probably damaging Het
Rspo3 T A 10: 29,411,275 (GRCm39) E17V possibly damaging Het
Scarf2 A G 16: 17,621,620 (GRCm39) N357D probably damaging Het
Scn9a A T 2: 66,323,447 (GRCm39) D1447E possibly damaging Het
Seh1l A G 18: 67,918,093 (GRCm39) N149S probably damaging Het
Sigirr T C 7: 140,672,140 (GRCm39) I268M probably benign Het
Slc35d2 A G 13: 64,246,162 (GRCm39) F282S probably damaging Het
Slc4a1 A T 11: 102,245,159 (GRCm39) M596K probably damaging Het
Spta1 G A 1: 174,017,797 (GRCm39) E494K probably damaging Het
Stk32b C A 5: 37,656,374 (GRCm39) probably benign Het
Tex13b T C X: 139,713,475 (GRCm39) E122G probably damaging Het
Tmem35a A G X: 133,205,357 (GRCm39) N91S probably damaging Het
Tmem67 A G 4: 12,047,313 (GRCm39) V841A possibly damaging Het
Trdv2-1 A G 14: 54,184,068 (GRCm39) D100G probably benign Het
Tshz3 T C 7: 36,468,346 (GRCm39) S112P probably benign Het
Tssc4 T C 7: 142,623,938 (GRCm39) M82T probably benign Het
Ttn A G 2: 76,562,723 (GRCm39) S28744P probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vim T C 2: 13,579,405 (GRCm39) S55P probably damaging Het
Zmat5 T A 11: 4,687,363 (GRCm39) Y139N possibly damaging Het
Zswim2 G A 2: 83,745,750 (GRCm39) Q563* probably null 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
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 2015-04-16