Incidental Mutation 'IGL02954:St7'
ID365042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St7
Ensembl Gene ENSMUSG00000029534
Gene Namesuppression of tumorigenicity 7
SynonymsRAY1, SEN4, Fam4a2, TSG7, 9430001H04Rik, HELG
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #IGL02954
Quality Score
Status
Chromosome6
Chromosomal Location17692933-17943025 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 17848031 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 198 (N198I)
Ref Sequence ENSEMBL: ENSMUSP00000111078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000674] [ENSMUST00000052113] [ENSMUST00000053148] [ENSMUST00000077080] [ENSMUST00000081635] [ENSMUST00000115417] [ENSMUST00000115418] [ENSMUST00000115419] [ENSMUST00000115420] [ENSMUST00000125673] [ENSMUST00000144488] [ENSMUST00000150281]
Predicted Effect probably damaging
Transcript: ENSMUST00000000674
AA Change: N152I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000674
Gene: ENSMUSG00000029534
AA Change: N152I

DomainStartEndE-ValueType
Pfam:ST7 2 507 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000052113
AA Change: N198I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062886
Gene: ENSMUSG00000029534
AA Change: N198I

DomainStartEndE-ValueType
Pfam:ST7 16 554 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000053148
AA Change: N155I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057326
Gene: ENSMUSG00000029534
AA Change: N155I

DomainStartEndE-ValueType
Pfam:ST7 3 534 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000077080
AA Change: N152I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076334
Gene: ENSMUSG00000029534
AA Change: N152I

DomainStartEndE-ValueType
Pfam:ST7 2 531 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000081635
AA Change: N198I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080341
Gene: ENSMUSG00000029534
AA Change: N198I

DomainStartEndE-ValueType
Pfam:ST7 17 576 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115417
AA Change: N155I

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111077
Gene: ENSMUSG00000029534
AA Change: N155I

DomainStartEndE-ValueType
Pfam:ST7 3 511 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115418
AA Change: N198I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111078
Gene: ENSMUSG00000029534
AA Change: N198I

DomainStartEndE-ValueType
Pfam:ST7 16 480 5e-278 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115419
AA Change: N198I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111079
Gene: ENSMUSG00000029534
AA Change: N198I

DomainStartEndE-ValueType
Pfam:ST7 16 572 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115420
AA Change: N198I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111080
Gene: ENSMUSG00000029534
AA Change: N198I

DomainStartEndE-ValueType
Pfam:ST7 16 448 2.5e-278 PFAM
Pfam:ST7 445 523 2e-31 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 noncoding transcript
Transcript: ENSMUST00000130084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140358
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: ENSMUST00000150281
SMART Domains Protein: ENSMUSP00000116304
Gene: ENSMUSG00000029534

DomainStartEndE-ValueType
Pfam:ST7 16 58 1.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154497
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,732,341 R908L probably benign Het
Abcc9 T C 6: 142,646,281 N774S probably damaging Het
Alpk2 C T 18: 65,306,136 V729I probably benign Het
Atf3 T C 1: 191,171,655 N125D probably damaging Het
Bcat1 C T 6: 145,019,219 G215D probably damaging Het
Bptf G T 11: 107,054,749 Q2555K possibly damaging Het
Cthrc1 A G 15: 39,076,994 probably benign Het
Cyp2c38 A G 19: 39,391,076 M443T probably damaging Het
D6Wsu163e C T 6: 126,974,478 probably benign Het
Dgkg T A 16: 22,622,253 E3D probably benign Het
Dnah8 G T 17: 30,704,835 R1259L probably benign Het
Dnah9 A G 11: 66,118,967 L698P probably damaging Het
Ebag9 A C 15: 44,630,205 H141P probably benign Het
Emilin2 T C 17: 71,256,531 R840G probably benign Het
Faap100 A T 11: 120,372,131 H800Q probably damaging Het
Fh1 A T 1: 175,609,735 I266N probably damaging Het
Fkbp15 A G 4: 62,321,065 probably benign Het
Gm17334 A G 11: 53,772,828 probably benign Het
Gm5773 G T 3: 93,773,051 W10L probably benign Het
Gng13 T C 17: 25,718,752 Y18H probably damaging Het
Hivep3 T C 4: 120,133,641 S2113P probably damaging Het
Ift81 A T 5: 122,610,185 probably benign Het
Irak3 A C 10: 120,176,242 L206V probably damaging Het
Kcng4 C T 8: 119,633,053 A195T probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Nars2 T G 7: 97,039,893 probably null Het
Nol8 T C 13: 49,661,172 V234A probably benign Het
Olfr533 A T 7: 140,466,440 K80* probably null Het
Olfr99 T A 17: 37,280,304 N39Y probably damaging Het
Patz1 A G 11: 3,291,761 Y383C probably damaging Het
Pdcd5 T C 7: 35,643,664 Y152C probably damaging Het
Phkg1 A G 5: 129,866,069 W214R probably damaging Het
Plxna1 A G 6: 89,324,667 L1459P probably damaging Het
Pspc1 G A 14: 56,771,760 P206S probably benign Het
Supt3 A G 17: 45,038,128 D249G probably damaging Het
Taf1c T C 8: 119,600,486 Y418C probably damaging Het
Tdrd6 A G 17: 43,627,262 V965A possibly damaging Het
Ugt2b35 A G 5: 87,011,321 N458S probably benign Het
Vmn1r8 A G 6: 57,036,330 Y122C probably benign Het
Other mutations in St7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:St7 APN 6 17855006 missense probably damaging 1.00
IGL01312:St7 APN 6 17922014 missense probably damaging 1.00
IGL01562:St7 APN 6 17922035 missense probably damaging 0.99
IGL01935:St7 APN 6 17930823 missense probably damaging 0.99
IGL02127:St7 APN 6 17844969 intron probably benign
IGL02980:St7 UTSW 6 17749546 intron probably benign
R0457:St7 UTSW 6 17819282 missense probably damaging 1.00
R0666:St7 UTSW 6 17934239 missense probably damaging 1.00
R0680:St7 UTSW 6 17942733 missense probably damaging 0.99
R1575:St7 UTSW 6 17886111 missense probably damaging 1.00
R2039:St7 UTSW 6 17886112 missense probably damaging 1.00
R2144:St7 UTSW 6 17886007 missense possibly damaging 0.58
R2194:St7 UTSW 6 17942719 missense probably damaging 1.00
R2869:St7 UTSW 6 17819277 missense probably damaging 1.00
R2869:St7 UTSW 6 17819277 missense probably damaging 1.00
R2873:St7 UTSW 6 17819277 missense probably damaging 1.00
R2874:St7 UTSW 6 17819277 missense probably damaging 1.00
R2970:St7 UTSW 6 17844909 missense probably damaging 1.00
R3076:St7 UTSW 6 17846238 nonsense probably null
R3921:St7 UTSW 6 17846245 missense probably benign 0.31
R4326:St7 UTSW 6 17819288 missense probably damaging 1.00
R4327:St7 UTSW 6 17819288 missense probably damaging 1.00
R4410:St7 UTSW 6 17854933 nonsense probably null
R4732:St7 UTSW 6 17906516 splice site probably null
R4733:St7 UTSW 6 17906516 splice site probably null
R4868:St7 UTSW 6 17819266 missense probably damaging 1.00
R4988:St7 UTSW 6 17934226 missense probably damaging 0.99
R5132:St7 UTSW 6 17854957 missense probably damaging 0.97
R5182:St7 UTSW 6 17846237 missense probably damaging 0.99
R5195:St7 UTSW 6 17743637 intron probably benign
R5358:St7 UTSW 6 17819318 missense probably damaging 1.00
R5502:St7 UTSW 6 17834674 missense possibly damaging 0.94
R5882:St7 UTSW 6 17846249 missense probably damaging 1.00
R5976:St7 UTSW 6 17694222 missense possibly damaging 0.93
R6049:St7 UTSW 6 17694348 missense possibly damaging 0.92
R6139:St7 UTSW 6 17694354 missense probably damaging 1.00
R6177:St7 UTSW 6 17819334 critical splice donor site probably null
R6181:St7 UTSW 6 17694364 critical splice donor site probably null
R6401:St7 UTSW 6 17855318 unclassified probably null
R6546:St7 UTSW 6 17852314 missense probably damaging 1.00
R6711:St7 UTSW 6 17848070 missense possibly damaging 0.82
R6898:St7 UTSW 6 17854946 missense probably damaging 1.00
R7536:St7 UTSW 6 17886020 missense probably damaging 0.99
R7583:St7 UTSW 6 17942754 missense possibly damaging 0.54
R7626:St7 UTSW 6 17934217 missense probably damaging 1.00
R7718:St7 UTSW 6 17854999 missense probably damaging 0.99
Z1176:St7 UTSW 6 17848045 missense probably benign 0.00
Posted On2015-12-18