Incidental Mutation 'IGL01010:Sssca1'
ID54088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sssca1
Ensembl Gene ENSMUSG00000079478
Gene NameSjogren syndrome/scleroderma autoantigen 1
Synonyms1500016H19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL01010
Quality Score
Status
Chromosome19
Chromosomal Location5728088-5731732 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5731265 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 78 (S78P)
Ref Sequence ENSEMBL: ENSMUSP00000125570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025885] [ENSMUST00000049295] [ENSMUST00000075606] [ENSMUST00000099955] [ENSMUST00000116558] [ENSMUST00000159693] [ENSMUST00000160852] [ENSMUST00000161368]
Predicted Effect probably damaging
Transcript: ENSMUST00000025885
AA Change: S78P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025885
Gene: ENSMUSG00000079478
AA Change: S78P

DomainStartEndE-ValueType
Pfam:Auto_anti-p27 36 74 2.8e-20 PFAM
low complexity region 107 122 N/A INTRINSIC
low complexity region 127 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049295
SMART Domains Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937

DomainStartEndE-ValueType
Pfam:NT-C2 12 164 3.2e-24 PFAM
low complexity region 245 256 N/A INTRINSIC
low complexity region 276 291 N/A INTRINSIC
internal_repeat_1 442 821 1.71e-12 PROSPERO
internal_repeat_1 833 1197 1.71e-12 PROSPERO
CH 1212 1310 3.55e-16 SMART
low complexity region 1316 1331 N/A INTRINSIC
low complexity region 1426 1449 N/A INTRINSIC
low complexity region 1471 1484 N/A INTRINSIC
low complexity region 1493 1547 N/A INTRINSIC
DUF3585 1552 1696 6.7e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075606
SMART Domains Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937

DomainStartEndE-ValueType
Pfam:NT-C2 12 164 3.9e-25 PFAM
CH 268 366 3.55e-16 SMART
low complexity region 372 387 N/A INTRINSIC
low complexity region 482 505 N/A INTRINSIC
low complexity region 527 540 N/A INTRINSIC
low complexity region 549 603 N/A INTRINSIC
DUF3585 608 752 6.7e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099955
SMART Domains Protein: ENSMUSP00000097538
Gene: ENSMUSG00000024939

DomainStartEndE-ValueType
low complexity region 9 37 N/A INTRINSIC
Pfam:LURAP 70 152 3.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116558
SMART Domains Protein: ENSMUSP00000112257
Gene: ENSMUSG00000024939

DomainStartEndE-ValueType
low complexity region 9 37 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 100 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159008
Predicted Effect silent
Transcript: ENSMUST00000159693
SMART Domains Protein: ENSMUSP00000123867
Gene: ENSMUSG00000079478

DomainStartEndE-ValueType
Pfam:Auto_anti-p27 33 59 1.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160141
Predicted Effect probably damaging
Transcript: ENSMUST00000160852
AA Change: S78P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125570
Gene: ENSMUSG00000079478
AA Change: S78P

DomainStartEndE-ValueType
Pfam:Auto_anti-p27 36 74 2.8e-20 PFAM
low complexity region 107 122 N/A INTRINSIC
low complexity region 127 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161368
SMART Domains Protein: ENSMUSP00000124294
Gene: ENSMUSG00000024939

DomainStartEndE-ValueType
low complexity region 9 37 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 110 130 N/A INTRINSIC
low complexity region 138 155 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162407
Predicted Effect unknown
Transcript: ENSMUST00000162976
AA Change: S31P
SMART Domains Protein: ENSMUSP00000125679
Gene: ENSMUSG00000079478
AA Change: S31P

DomainStartEndE-ValueType
Pfam:Auto_anti-p27 1 28 1.3e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 72,445,215 S155R probably damaging Het
Acss3 G T 10: 107,023,849 probably benign Het
Ano4 G A 10: 88,960,600 T680I probably benign Het
Drosha C T 15: 12,827,289 probably benign Het
Ehd3 A G 17: 73,827,489 D281G probably damaging Het
Exoc5 A G 14: 49,037,755 L196P probably damaging Het
Gal3st1 T C 11: 3,996,914 probably benign Het
Gart G A 16: 91,643,092 R4* probably null Het
Gm21738 T A 14: 19,417,361 T56S probably benign Het
Gm3573 T A 14: 42,187,566 I141L probably benign Het
Gpr6 A G 10: 41,071,151 M145T probably benign Het
Kcns3 T C 12: 11,092,426 M91V probably benign Het
Marc2 T G 1: 184,819,316 I308L probably benign Het
Mto1 A G 9: 78,461,643 K529R probably benign Het
Naip2 A T 13: 100,154,938 V1164D probably damaging Het
Olfr1053 A T 2: 86,314,944 I114N probably damaging Het
Olfr695 T C 7: 106,874,253 probably benign Het
Plekha1 T C 7: 130,902,254 probably benign Het
Psg26 T C 7: 18,478,330 S367G possibly damaging Het
Rps6kb1 T C 11: 86,502,766 M513V probably benign Het
Slitrk3 C T 3: 73,049,273 G722D probably benign Het
Stag1 A G 9: 100,945,933 E1005G probably benign Het
Tgfbr2 A T 9: 116,129,980 L122Q possibly damaging Het
Traf2 G A 2: 25,520,438 R400* probably null Het
Trim33 C T 3: 103,346,715 Q153* probably null Het
Zmynd15 T C 11: 70,465,916 Y551H probably damaging Het
Other mutations in Sssca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03069:Sssca1 APN 19 5730422 missense possibly damaging 0.52
R4044:Sssca1 UTSW 19 5730403 missense probably damaging 1.00
R6697:Sssca1 UTSW 19 5730430 missense probably damaging 1.00
Posted On2013-06-28