Incidental Mutation 'IGL02739:Sdad1'
ID305820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdad1
Ensembl Gene ENSMUSG00000029415
Gene NameSDA1 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL02739
Quality Score
Status
Chromosome5
Chromosomal Location92284010-92310479 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 92290072 bp
ZygosityHeterozygous
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]
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: 76,878,517 C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 E352* probably null Het
Bglap2 A T 3: 88,378,012 probably null Het
Bsn A T 9: 108,112,546 H2002Q probably benign Het
Chtop T A 3: 90,502,250 Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 probably null Het
Ctsr T C 13: 61,161,844 T184A probably benign Het
Defb36 T C 2: 152,604,519 L11P unknown Het
Dock8 A G 19: 25,188,488 E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 Y106H probably damaging Het
Epas1 A G 17: 86,805,282 T103A probably damaging Het
Epcam A T 17: 87,640,494 T131S probably benign Het
Fam169a A G 13: 97,094,055 probably benign Het
Gh T A 11: 106,301,733 probably benign Het
Kif20a A T 18: 34,628,943 K399* probably null Het
Lrp1b A G 2: 41,498,215 I466T probably damaging Het
Nlk A G 11: 78,574,851 V409A probably benign Het
Nomo1 A G 7: 46,044,307 probably null Het
Nr2c1 T A 10: 94,156,972 M16K probably damaging Het
Nxph2 A T 2: 23,399,900 Q88L probably benign Het
Olfr33 A G 7: 102,714,314 I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 probably null Het
Ppp1r42 T A 1: 9,968,853 K347N probably benign Het
Prtg T C 9: 72,851,585 V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 S194* probably null Het
Rnf214 T C 9: 45,869,474 I406V probably benign Het
Rreb1 C T 13: 37,893,821 S3L probably damaging Het
Sema3a A G 5: 13,451,161 Y57C probably damaging Het
Susd5 A G 9: 114,096,033 E328G possibly damaging Het
Syngr3 T C 17: 24,686,398 T175A probably damaging Het
Tcf20 T A 15: 82,856,080 Q390L probably damaging Het
Tex15 A G 8: 33,581,693 T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 N36S probably benign Het
Uchl4 C T 9: 64,235,537 T100M probably damaging Het
Uhrf1 A G 17: 56,305,129 K11R probably benign Het
Vps13b T A 15: 35,879,900 D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 Y640* probably null Het
Zkscan17 T G 11: 59,503,526 E83A probably damaging Het
Other mutations in Sdad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Sdad1 APN 5 92303773 splice site probably null
IGL01355:Sdad1 APN 5 92302679 missense probably damaging 1.00
IGL01635:Sdad1 APN 5 92297160 missense probably damaging 0.98
IGL02166:Sdad1 APN 5 92291762 missense probably benign 0.03
IGL02503:Sdad1 APN 5 92301802 unclassified probably benign
PIT4468001:Sdad1 UTSW 5 92291918 missense probably damaging 1.00
R0583:Sdad1 UTSW 5 92305064 missense probably damaging 0.97
R1169:Sdad1 UTSW 5 92298233 missense probably benign 0.32
R1496:Sdad1 UTSW 5 92309823 missense possibly damaging 0.94
R1844:Sdad1 UTSW 5 92305296 nonsense probably null
R1848:Sdad1 UTSW 5 92292651 critical splice donor site probably null
R2419:Sdad1 UTSW 5 92305818 missense possibly damaging 0.69
R2497:Sdad1 UTSW 5 92300099 missense probably benign 0.00
R2509:Sdad1 UTSW 5 92305825 missense probably benign 0.12
R4043:Sdad1 UTSW 5 92302694 missense probably damaging 0.96
R4384:Sdad1 UTSW 5 92298257 missense probably benign 0.01
R4477:Sdad1 UTSW 5 92297160 missense probably damaging 0.98
R4478:Sdad1 UTSW 5 92297160 missense probably damaging 0.98
R4734:Sdad1 UTSW 5 92304977 missense possibly damaging 0.61
R4749:Sdad1 UTSW 5 92304977 missense possibly damaging 0.61
R5135:Sdad1 UTSW 5 92303934 missense probably benign 0.00
R5288:Sdad1 UTSW 5 92286825 makesense probably null
R6331:Sdad1 UTSW 5 92303930 missense probably damaging 1.00
R7038:Sdad1 UTSW 5 92298190 critical splice donor site probably null
R7099:Sdad1 UTSW 5 92293973 missense possibly damaging 0.89
R7420:Sdad1 UTSW 5 92305737 missense possibly damaging 0.91
R7425:Sdad1 UTSW 5 92300121 missense probably benign 0.10
R7714:Sdad1 UTSW 5 92302679 missense probably damaging 1.00
R8048:Sdad1 UTSW 5 92300089 missense probably benign 0.01
R8198:Sdad1 UTSW 5 92291952 missense probably damaging 0.96
R8347:Sdad1 UTSW 5 92298229 missense probably benign 0.00
R8693:Sdad1 UTSW 5 92304998 missense probably benign 0.09
R8696:Sdad1 UTSW 5 92289786 missense probably damaging 1.00
R8746:Sdad1 UTSW 5 92289925 missense probably benign
Posted On2015-04-16