Incidental Mutation 'IGL02700:Elmsan1'
ID304099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elmsan1
Ensembl Gene ENSMUSG00000042507
Gene NameELM2 and Myb/SANT-like domain containing 1
Synonyms9430029N19Rik, C130039O16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.238) question?
Stock #IGL02700
Quality Score
Status
Chromosome12
Chromosomal Location84149176-84218881 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84152862 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 1028 (N1028S)
Ref Sequence ENSEMBL: ENSMUSP00000152853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046266] [ENSMUST00000061425] [ENSMUST00000110294] [ENSMUST00000220974]
Predicted Effect probably benign
Transcript: ENSMUST00000046266
AA Change: N1028S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507
AA Change: N1028S

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 107 117 N/A INTRINSIC
low complexity region 124 132 N/A INTRINSIC
low complexity region 247 265 N/A INTRINSIC
low complexity region 377 388 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
ELM2 715 772 6.76e-14 SMART
low complexity region 798 814 N/A INTRINSIC
SANT 821 869 1.44e-5 SMART
low complexity region 906 926 N/A INTRINSIC
low complexity region 942 956 N/A INTRINSIC
ZnF_C2H2 1030 1052 4.72e-2 SMART
low complexity region 1053 1082 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061425
SMART Domains Protein: ENSMUSP00000060783
Gene: ENSMUSG00000054383

DomainStartEndE-ValueType
Pfam:PNMA 1 326 6e-143 PFAM
low complexity region 330 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110294
AA Change: N1028S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507
AA Change: N1028S

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 107 117 N/A INTRINSIC
low complexity region 124 132 N/A INTRINSIC
low complexity region 247 265 N/A INTRINSIC
low complexity region 377 388 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
ELM2 715 772 6.76e-14 SMART
low complexity region 798 814 N/A INTRINSIC
SANT 821 869 1.44e-5 SMART
low complexity region 906 926 N/A INTRINSIC
low complexity region 942 956 N/A INTRINSIC
ZnF_C2H2 1030 1052 4.72e-2 SMART
low complexity region 1053 1082 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137562
Predicted Effect probably benign
Transcript: ENSMUST00000220974
AA Change: N1028S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 121,535,422 probably null Het
Acacb A G 5: 114,218,881 Y1291C probably damaging Het
Agtpbp1 C T 13: 59,528,419 C179Y probably damaging Het
Capn15 T C 17: 25,963,008 D609G probably damaging Het
Cnnm3 T A 1: 36,513,108 F400I probably damaging Het
Dst A C 1: 34,262,120 E1189A probably damaging Het
Gcnt1 G A 19: 17,329,416 T315I probably damaging Het
H2-M1 T C 17: 36,671,269 I147V possibly damaging Het
Hk1 T C 10: 62,284,811 N536D probably damaging Het
Klhl5 C T 5: 65,131,430 Q12* probably null Het
Lgals12 C T 19: 7,598,090 A294T probably benign Het
Mki67 G T 7: 135,708,202 S173R probably benign Het
Nedd4l C T 18: 65,209,680 R755C probably damaging Het
Obox5 A G 7: 15,758,963 D281G possibly damaging Het
Olfr1310 T C 2: 112,008,691 D165G probably benign Het
Pacs2 T A 12: 113,061,710 I494N probably damaging Het
Pax5 G T 4: 44,682,722 T141K probably damaging Het
Phf21b T C 15: 84,803,461 N230S probably benign Het
Rab3gap1 G T 1: 127,938,605 A841S probably benign Het
Siglecf T C 7: 43,352,378 L204P probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Snca G A 6: 60,827,537 T22I possibly damaging Het
Syvn1 A G 19: 6,047,943 T4A probably benign Het
Usp36 T C 11: 118,276,157 N298S possibly damaging Het
Usp42 A T 5: 143,717,128 S579R probably benign Het
Vezf1 T C 11: 88,073,303 S94P probably damaging Het
Other mutations in Elmsan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Elmsan1 APN 12 84172855 nonsense probably null
IGL00913:Elmsan1 APN 12 84172858 missense probably benign
IGL00944:Elmsan1 APN 12 84160548 splice site probably benign
IGL01108:Elmsan1 APN 12 84173691 missense probably damaging 1.00
IGL01952:Elmsan1 APN 12 84173266 missense probably benign 0.00
IGL01961:Elmsan1 APN 12 84173614 missense probably damaging 1.00
IGL02188:Elmsan1 APN 12 84162326 missense probably benign 0.00
R0645:Elmsan1 UTSW 12 84158303 missense possibly damaging 0.71
R1387:Elmsan1 UTSW 12 84152931 missense probably damaging 0.98
R1740:Elmsan1 UTSW 12 84172902 missense probably damaging 0.99
R1769:Elmsan1 UTSW 12 84158350 splice site probably benign
R1795:Elmsan1 UTSW 12 84158974 critical splice donor site probably null
R2146:Elmsan1 UTSW 12 84173035 missense probably damaging 0.99
R2872:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R2872:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R2940:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R3408:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R3689:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R3691:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R3840:Elmsan1 UTSW 12 84171609 missense probably damaging 0.99
R4364:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R4366:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R4392:Elmsan1 UTSW 12 84173111 missense probably benign 0.10
R4439:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R4440:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R4496:Elmsan1 UTSW 12 84156471 missense probably benign 0.00
R5227:Elmsan1 UTSW 12 84152887 missense probably benign 0.10
R6921:Elmsan1 UTSW 12 84156459 missense probably damaging 0.99
Posted On2015-04-16