Incidental Mutation 'R5882:St7'
ID 454466
Institutional Source Beutler Lab
Gene Symbol St7
Ensembl Gene ENSMUSG00000029534
Gene Name suppression of tumorigenicity 7
Synonyms RAY1, HELG, TSG7, Fam4a2, 9430001H04Rik, SEN4
MMRRC Submission 043236-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R5882 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 17693579-17943022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17846248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 121 (L121P)
Ref Sequence ENSEMBL: ENSMUSP00000076334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000674] [ENSMUST00000052113] [ENSMUST00000053148] [ENSMUST00000077080] [ENSMUST00000081635] [ENSMUST00000115417] [ENSMUST00000115418] [ENSMUST00000115419] [ENSMUST00000115420] [ENSMUST00000150281] [ENSMUST00000125673] [ENSMUST00000144488]
AlphaFold Q99M96
Predicted Effect probably damaging
Transcript: ENSMUST00000000674
AA Change: L121P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000674
Gene: ENSMUSG00000029534
AA Change: L121P

DomainStartEndE-ValueType
Pfam:ST7 2 507 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000052113
AA Change: L167P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062886
Gene: ENSMUSG00000029534
AA Change: L167P

DomainStartEndE-ValueType
Pfam:ST7 16 554 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000053148
AA Change: L124P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057326
Gene: ENSMUSG00000029534
AA Change: L124P

DomainStartEndE-ValueType
Pfam:ST7 3 534 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000077080
AA Change: L121P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076334
Gene: ENSMUSG00000029534
AA Change: L121P

DomainStartEndE-ValueType
Pfam:ST7 2 531 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000081635
AA Change: L167P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080341
Gene: ENSMUSG00000029534
AA Change: L167P

DomainStartEndE-ValueType
Pfam:ST7 17 576 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115417
AA Change: L124P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111077
Gene: ENSMUSG00000029534
AA Change: L124P

DomainStartEndE-ValueType
Pfam:ST7 3 511 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154059
Predicted Effect possibly damaging
Transcript: ENSMUST00000115418
AA Change: L167P

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111078
Gene: ENSMUSG00000029534
AA Change: L167P

DomainStartEndE-ValueType
Pfam:ST7 16 480 5e-278 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115419
AA Change: L167P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111079
Gene: ENSMUSG00000029534
AA Change: L167P

DomainStartEndE-ValueType
Pfam:ST7 16 572 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115420
AA Change: L167P

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111080
Gene: ENSMUSG00000029534
AA Change: L167P

DomainStartEndE-ValueType
Pfam:ST7 16 448 2.5e-278 PFAM
Pfam:ST7 445 523 2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130084
Predicted Effect probably benign
Transcript: ENSMUST00000150281
SMART Domains Protein: ENSMUSP00000116304
Gene: ENSMUSG00000029534

DomainStartEndE-ValueType
Pfam:ST7 16 58 1.9e-15 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: ENSMUST00000144488
SMART Domains Protein: ENSMUSP00000115215
Gene: ENSMUSG00000029534

DomainStartEndE-ValueType
Pfam:ST7 16 82 6.3e-33 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.5%
  • 20x: 86.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e T A 15: 77,602,447 (GRCm39) H348Q probably benign Het
Cacna1g T A 11: 94,350,645 (GRCm39) E400V probably damaging Het
Cyp2j6 T A 4: 96,423,839 (GRCm39) K176N probably benign Het
Dcaf4 T C 12: 83,586,203 (GRCm39) V377A probably damaging Het
Dennd1a A G 2: 37,851,675 (GRCm39) L71P probably damaging Het
Dmbx1 G T 4: 115,777,498 (GRCm39) R117S probably damaging Het
Ep400 A G 5: 110,903,453 (GRCm39) V382A probably benign Het
Kars1 G A 8: 112,730,057 (GRCm39) R107* probably null Het
Kif16b C T 2: 142,549,178 (GRCm39) probably null Het
Lrrc69 A G 4: 14,708,690 (GRCm39) F218S probably damaging Het
Myo15b A G 11: 115,760,422 (GRCm39) Y1158C probably damaging Het
Myom1 G C 17: 71,417,717 (GRCm39) A1307P probably damaging Het
Nacad C T 11: 6,548,568 (GRCm39) V1389I possibly damaging Het
Nit2 T C 16: 56,979,829 (GRCm39) D132G probably benign Het
Nln G T 13: 104,196,006 (GRCm39) D60E probably benign Het
Oas1f G A 5: 120,986,316 (GRCm39) E90K probably damaging Het
Obox3 A G 7: 15,360,893 (GRCm39) V82A probably benign Het
Or4k35 A T 2: 111,100,484 (GRCm39) V76E probably damaging Het
Or8b12 C T 9: 37,657,928 (GRCm39) T166I probably benign Het
Pcdhb1 A T 18: 37,400,230 (GRCm39) Q727L probably benign Het
Phactr1 G T 13: 42,863,327 (GRCm39) probably null Het
Prkg1 A T 19: 31,563,097 (GRCm39) N116K probably damaging Het
Scnn1g A T 7: 121,366,581 (GRCm39) S593C possibly damaging Het
Serpina6 T C 12: 103,620,494 (GRCm39) N85S probably benign Het
Spock3 A G 8: 63,596,965 (GRCm39) T93A probably benign Het
Stoml2 G C 4: 43,031,003 (GRCm39) R57G probably damaging Het
Tdrd1 C T 19: 56,837,371 (GRCm39) R532C probably damaging Het
Tmc5 A G 7: 118,254,142 (GRCm39) N660S probably damaging Het
Tmem38a A G 8: 73,339,731 (GRCm39) H233R probably damaging Het
Trp53bp2 T C 1: 182,269,777 (GRCm39) V304A possibly damaging Het
Ush1g C A 11: 115,209,368 (GRCm39) M275I probably damaging Het
Zfp882 A T 8: 72,667,303 (GRCm39) probably null Het
Zim1 A T 7: 6,685,737 (GRCm39) probably null Het
Other mutations in St7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:St7 APN 6 17,855,005 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATCCAACAGGAGTCCTTTGGAAG -3'
(R):5'- TCATGCTTACAGGGCAAGAAC -3'

Sequencing Primer
(F):5'- GTCCTTTGGAAGAACACTCAGTGC -3'
(R):5'- AGCTGGTCTCAAACTAGATGTCC -3'
Posted On 2017-02-10