Incidental Mutation 'IGL00572:St7'
ID 5476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St7
Ensembl Gene ENSMUSG00000029534
Gene Name suppression of tumorigenicity 7
Synonyms RAY1, HELG, TSG7, Fam4a2, 9430001H04Rik, SEN4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # IGL00572
Quality Score
Status
Chromosome 6
Chromosomal Location 17693579-17943022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17855005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 245 (E245G)
Ref Sequence ENSEMBL: ENSMUSP00000000674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000674] [ENSMUST00000052113] [ENSMUST00000053148] [ENSMUST00000077080] [ENSMUST00000081635] [ENSMUST00000115417] [ENSMUST00000115418] [ENSMUST00000115420] [ENSMUST00000115419] [ENSMUST00000144488] [ENSMUST00000125673] [ENSMUST00000150281]
AlphaFold Q99M96
Predicted Effect probably damaging
Transcript: ENSMUST00000000674
AA Change: E245G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000674
Gene: ENSMUSG00000029534
AA Change: E245G

DomainStartEndE-ValueType
Pfam:ST7 2 507 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000052113
AA Change: E291G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062886
Gene: ENSMUSG00000029534
AA Change: E291G

DomainStartEndE-ValueType
Pfam:ST7 16 554 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000053148
AA Change: E271G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057326
Gene: ENSMUSG00000029534
AA Change: E271G

DomainStartEndE-ValueType
Pfam:ST7 3 534 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000077080
AA Change: E268G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076334
Gene: ENSMUSG00000029534
AA Change: E268G

DomainStartEndE-ValueType
Pfam:ST7 2 531 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000081635
AA Change: E314G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080341
Gene: ENSMUSG00000029534
AA Change: E314G

DomainStartEndE-ValueType
Pfam:ST7 17 576 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115417
AA Change: E248G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111077
Gene: ENSMUSG00000029534
AA Change: E248G

DomainStartEndE-ValueType
Pfam:ST7 3 511 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115418
AA Change: E291G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111078
Gene: ENSMUSG00000029534
AA Change: E291G

DomainStartEndE-ValueType
Pfam:ST7 16 480 5e-278 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115420
AA Change: E291G

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111080
Gene: ENSMUSG00000029534
AA Change: E291G

DomainStartEndE-ValueType
Pfam:ST7 16 448 2.5e-278 PFAM
Pfam:ST7 445 523 2e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115419
AA Change: E314G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111079
Gene: ENSMUSG00000029534
AA Change: E314G

DomainStartEndE-ValueType
Pfam:ST7 16 572 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138726
Predicted Effect probably benign
Transcript: ENSMUST00000144488
SMART Domains Protein: ENSMUSP00000115215
Gene: ENSMUSG00000029534

DomainStartEndE-ValueType
Pfam:ST7 16 82 6.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125673
SMART Domains Protein: ENSMUSP00000122970
Gene: ENSMUSG00000029534

DomainStartEndE-ValueType
Pfam:ST7 16 52 1.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150281
SMART Domains Protein: ENSMUSP00000116304
Gene: ENSMUSG00000029534

DomainStartEndE-ValueType
Pfam:ST7 16 58 1.9e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 56,127,648 (GRCm39) I563V probably benign Het
Adgrl2 A G 3: 148,532,134 (GRCm39) L1033P probably damaging Het
Aqr A C 2: 113,956,423 (GRCm39) I840M possibly damaging Het
Bmper G A 9: 23,317,823 (GRCm39) V481M probably damaging Het
Chd8 T C 14: 52,463,595 (GRCm39) E683G probably damaging Het
Cpn1 A G 19: 43,952,268 (GRCm39) V338A probably damaging Het
Cs A G 10: 128,196,833 (GRCm39) probably benign Het
Gm4540 C T 3: 105,942,123 (GRCm39) probably benign Het
Hdc A G 2: 126,443,792 (GRCm39) F296L probably benign Het
Helt T C 8: 46,746,559 (GRCm39) E32G probably damaging Het
Hivep1 C T 13: 42,312,347 (GRCm39) A1529V probably benign Het
Klk1b4 A T 7: 43,860,198 (GRCm39) H104L possibly damaging Het
Lrrc37 A G 11: 103,506,236 (GRCm39) F1911L probably benign Het
Ncf2 C A 1: 152,683,925 (GRCm39) T48N possibly damaging Het
Phkg1 G A 5: 129,893,914 (GRCm39) Q274* probably null Het
Slc1a2 A G 2: 102,607,921 (GRCm39) D520G possibly damaging Het
Slc25a10 G T 11: 120,387,933 (GRCm39) probably null Het
Slc8a1 A T 17: 81,696,155 (GRCm39) S960T probably damaging Het
Sp140 G A 1: 85,549,393 (GRCm39) R208K probably benign Het
Sypl1 T A 12: 33,004,293 (GRCm39) S2T probably damaging Het
Tbx20 T C 9: 24,636,984 (GRCm39) T368A probably benign Het
Tmem126a T C 7: 90,100,040 (GRCm39) T168A probably benign Het
Ttn T C 2: 76,576,934 (GRCm39) D24653G probably damaging Het
Ttn A G 2: 76,777,323 (GRCm39) S1360P probably damaging Het
Uggt2 A T 14: 119,280,203 (GRCm39) F282L probably benign Het
Usp36 A T 11: 118,155,646 (GRCm39) N875K possibly damaging Het
Usp9x C A X: 12,991,815 (GRCm39) H869N probably benign Het
Xpnpep1 T C 19: 52,998,579 (GRCm39) E223G probably benign Het
Zfp729a G A 13: 67,767,440 (GRCm39) P930S probably benign Het
Zscan10 G A 17: 23,828,435 (GRCm39) V216M probably damaging Het
Other mutations in St7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:St7 APN 6 17,922,013 (GRCm39) missense probably damaging 1.00
IGL01562:St7 APN 6 17,922,034 (GRCm39) missense probably damaging 0.99
IGL01935:St7 APN 6 17,930,822 (GRCm39) missense probably damaging 0.99
IGL02127:St7 APN 6 17,844,968 (GRCm39) intron probably benign
IGL02954:St7 APN 6 17,848,030 (GRCm39) missense probably damaging 1.00
IGL02980:St7 UTSW 6 17,749,545 (GRCm39) intron probably benign
R0457:St7 UTSW 6 17,819,281 (GRCm39) missense probably damaging 1.00
R0666:St7 UTSW 6 17,934,238 (GRCm39) missense probably damaging 1.00
R0680:St7 UTSW 6 17,942,732 (GRCm39) missense probably damaging 0.99
R1575:St7 UTSW 6 17,886,110 (GRCm39) missense probably damaging 1.00
R2039:St7 UTSW 6 17,886,111 (GRCm39) missense probably damaging 1.00
R2144:St7 UTSW 6 17,886,006 (GRCm39) missense possibly damaging 0.58
R2194:St7 UTSW 6 17,942,718 (GRCm39) missense probably damaging 1.00
R2869:St7 UTSW 6 17,819,276 (GRCm39) missense probably damaging 1.00
R2869:St7 UTSW 6 17,819,276 (GRCm39) missense probably damaging 1.00
R2873:St7 UTSW 6 17,819,276 (GRCm39) missense probably damaging 1.00
R2874:St7 UTSW 6 17,819,276 (GRCm39) missense probably damaging 1.00
R2970:St7 UTSW 6 17,844,908 (GRCm39) missense probably damaging 1.00
R3076:St7 UTSW 6 17,846,237 (GRCm39) nonsense probably null
R3921:St7 UTSW 6 17,846,244 (GRCm39) missense probably benign 0.31
R4326:St7 UTSW 6 17,819,287 (GRCm39) missense probably damaging 1.00
R4327:St7 UTSW 6 17,819,287 (GRCm39) missense probably damaging 1.00
R4410:St7 UTSW 6 17,854,932 (GRCm39) nonsense probably null
R4732:St7 UTSW 6 17,906,515 (GRCm39) splice site probably null
R4733:St7 UTSW 6 17,906,515 (GRCm39) splice site probably null
R4868:St7 UTSW 6 17,819,265 (GRCm39) missense probably damaging 1.00
R4988:St7 UTSW 6 17,934,225 (GRCm39) missense probably damaging 0.99
R5132:St7 UTSW 6 17,854,956 (GRCm39) missense probably damaging 0.97
R5182:St7 UTSW 6 17,846,236 (GRCm39) missense probably damaging 0.99
R5195:St7 UTSW 6 17,743,636 (GRCm39) intron probably benign
R5358:St7 UTSW 6 17,819,317 (GRCm39) missense probably damaging 1.00
R5502:St7 UTSW 6 17,834,673 (GRCm39) missense possibly damaging 0.94
R5882:St7 UTSW 6 17,846,248 (GRCm39) missense probably damaging 1.00
R5976:St7 UTSW 6 17,694,221 (GRCm39) missense possibly damaging 0.93
R6049:St7 UTSW 6 17,694,347 (GRCm39) missense possibly damaging 0.92
R6139:St7 UTSW 6 17,694,353 (GRCm39) missense probably damaging 1.00
R6177:St7 UTSW 6 17,819,333 (GRCm39) critical splice donor site probably null
R6181:St7 UTSW 6 17,694,363 (GRCm39) critical splice donor site probably null
R6401:St7 UTSW 6 17,855,317 (GRCm39) splice site probably null
R6546:St7 UTSW 6 17,852,313 (GRCm39) missense probably damaging 1.00
R6711:St7 UTSW 6 17,848,069 (GRCm39) missense possibly damaging 0.82
R6898:St7 UTSW 6 17,854,945 (GRCm39) missense probably damaging 1.00
R7536:St7 UTSW 6 17,886,019 (GRCm39) missense probably damaging 0.99
R7583:St7 UTSW 6 17,942,753 (GRCm39) missense possibly damaging 0.54
R7626:St7 UTSW 6 17,934,216 (GRCm39) missense probably damaging 1.00
R7718:St7 UTSW 6 17,854,998 (GRCm39) missense probably damaging 0.99
R7943:St7 UTSW 6 17,844,911 (GRCm39) missense probably damaging 1.00
R8334:St7 UTSW 6 17,934,220 (GRCm39) missense probably damaging 1.00
R8415:St7 UTSW 6 17,848,080 (GRCm39) critical splice donor site probably null
R9018:St7 UTSW 6 17,906,494 (GRCm39) missense probably damaging 1.00
R9217:St7 UTSW 6 17,846,271 (GRCm39) missense probably damaging 0.98
R9294:St7 UTSW 6 17,844,913 (GRCm39) nonsense probably null
Z1176:St7 UTSW 6 17,848,044 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20