Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01562:St7'

90871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

St7

Ensembl Gene

ENSMUSG00000029534

Gene Name

suppression of tumorigenicity 7

Synonyms

RAY1, SEN4, Fam4a2, TSG7, 9430001H04Rik, HELG

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL01562

Quality Score

Status

Chromosome

Chromosomal Location

17692933-17943025 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17922035 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 411 (L411Q)

Ref Sequence

ENSEMBL: ENSMUSP00000111080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000674] [ENSMUST00000052113] [ENSMUST00000053148] [ENSMUST00000077080] [ENSMUST00000081635] [ENSMUST00000115417] [ENSMUST00000115418] [ENSMUST00000115419] [ENSMUST00000115420] [ENSMUST00000144488] [ENSMUST00000150281]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000674
AA Change: L365Q

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000674
Gene: ENSMUSG00000029534
AA Change: L365Q

Domain	Start	End	E-Value	Type
Pfam:ST7	2	507	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000052113
AA Change: L411Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062886
Gene: ENSMUSG00000029534
AA Change: L411Q

Domain	Start	End	E-Value	Type
Pfam:ST7	16	554	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053148
AA Change: L391Q

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057326
Gene: ENSMUSG00000029534
AA Change: L391Q

Domain	Start	End	E-Value	Type
Pfam:ST7	3	534	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000077080
AA Change: L388Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076334
Gene: ENSMUSG00000029534
AA Change: L388Q

Domain	Start	End	E-Value	Type
Pfam:ST7	2	531	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000081635
AA Change: L434Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080341
Gene: ENSMUSG00000029534
AA Change: L434Q

Domain	Start	End	E-Value	Type
Pfam:ST7	17	576	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115417
AA Change: L368Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111077
Gene: ENSMUSG00000029534
AA Change: L368Q

Domain	Start	End	E-Value	Type
Pfam:ST7	3	511	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115418
AA Change: L411Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111078
Gene: ENSMUSG00000029534
AA Change: L411Q

Domain	Start	End	E-Value	Type
Pfam:ST7	16	480	5e-278	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115419
AA Change: L434Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111079
Gene: ENSMUSG00000029534
AA Change: L434Q

Domain	Start	End	E-Value	Type
Pfam:ST7	16	572	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115420
AA Change: L411Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111080
Gene: ENSMUSG00000029534
AA Change: L411Q

Domain	Start	End	E-Value	Type
Pfam:ST7	16	448	2.5e-278	PFAM
Pfam:ST7	445	523	2e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140358

Predicted Effect

probably benign
Transcript: ENSMUST00000144488

SMART Domains

Protein: ENSMUSP00000115215
Gene: ENSMUSG00000029534

Domain	Start	End	E-Value	Type
Pfam:ST7	16	82	6.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150281

SMART Domains

Protein: ENSMUSP00000116304
Gene: ENSMUSG00000029534

Domain	Start	End	E-Value	Type
Pfam:ST7	16	58	1.9e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202926

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Crym	A	G	7: 120,195,399	V199A	probably damaging	Het
Dsel	T	C	1: 111,860,319	T829A	probably benign	Het
Frg1	T	C	8: 41,416,909	K18R	possibly damaging	Het
H2-M10.5	A	G	17: 36,773,776	S131G	possibly damaging	Het
Ift172	A	T	5: 31,267,247	I701N	probably damaging	Het
Il5ra	T	C	6: 106,731,904	I292V	probably benign	Het
Nup98	A	G	7: 102,185,918	S243P	probably damaging	Het
Pramef25	A	G	4: 143,950,865	L48S	probably damaging	Het
Ptgis	T	C	2: 167,206,830	Y422C	probably damaging	Het
Senp2	T	C	16: 22,009,687	C16R	probably damaging	Het
Tanc2	A	T	11: 105,780,069	Y164F	probably benign	Het
Ttc23l	T	C	15: 10,551,390		probably benign	Het
Vmn2r66	G	T	7: 85,007,287	Q174K	probably benign	Het
Wrap73	A	G	4: 154,145,337	E55G	possibly damaging	Het

Other mutations in St7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:St7	APN	6	17855006	missense	probably damaging	1.00
IGL01312:St7	APN	6	17922014	missense	probably damaging	1.00
IGL01935:St7	APN	6	17930823	missense	probably damaging	0.99
IGL02127:St7	APN	6	17844969	intron	probably benign
IGL02954:St7	APN	6	17848031	missense	probably damaging	1.00
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	splice site	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
R7943:St7	UTSW	6	17844912	missense	probably damaging	1.00
R8334:St7	UTSW	6	17934221	missense	probably damaging	1.00
R8415:St7	UTSW	6	17848081	critical splice donor site	probably null
Z1176:St7	UTSW	6	17848045	missense	probably benign	0.00

Posted On

2013-12-09