Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01312:St7'

73712

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: 0.147) question?

Stock #

IGL01312

Quality Score

Status

Chromosome

Chromosomal Location

17693579-17943022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17922013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 361 (I361N)

Ref Sequence

ENSEMBL: ENSMUSP00000111077 (fasta)

Gene Model

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

AlphaFold

Q99M96

Predicted Effect

probably damaging
Transcript: ENSMUST00000000674
AA Change: I358N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000674
Gene: ENSMUSG00000029534
AA Change: I358N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000052113
AA Change: I404N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062886
Gene: ENSMUSG00000029534
AA Change: I404N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053148
AA Change: I384N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057326
Gene: ENSMUSG00000029534
AA Change: I384N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077080
AA Change: I381N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076334
Gene: ENSMUSG00000029534
AA Change: I381N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000081635
AA Change: I427N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080341
Gene: ENSMUSG00000029534
AA Change: I427N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115417
AA Change: I361N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111077
Gene: ENSMUSG00000029534
AA Change: I361N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115418
AA Change: I404N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111078
Gene: ENSMUSG00000029534
AA Change: I404N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115419
AA Change: I427N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111079
Gene: ENSMUSG00000029534
AA Change: I427N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115420
AA Change: I404N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111080
Gene: ENSMUSG00000029534
AA Change: I404N

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: ENSMUST00000202926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154059

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

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle2	G	T	5: 110,382,218 (GRCm39)	V65L	probably benign	Het
C3	G	A	17: 57,532,993 (GRCm39)		probably benign	Het
Colgalt1	G	A	8: 72,075,420 (GRCm39)	R442H	probably damaging	Het
Epb41l2	A	G	10: 25,317,485 (GRCm39)	M1V	probably null	Het
Etaa1	A	G	11: 17,895,909 (GRCm39)	L736S	probably damaging	Het
Foxm1	T	C	6: 128,350,337 (GRCm39)	F546S	probably damaging	Het
Fscn3	T	C	6: 28,434,469 (GRCm39)	I348T	probably damaging	Het
Garre1	A	T	7: 33,955,933 (GRCm39)	D385E	probably benign	Het
Gcm2	T	C	13: 41,256,607 (GRCm39)	T381A	probably damaging	Het
Nup153	T	C	13: 46,840,300 (GRCm39)	T1103A	probably benign	Het
Or10ag59	A	G	2: 87,405,518 (GRCm39)	Q30R	probably damaging	Het
Pde7b	A	G	10: 20,311,940 (GRCm39)		probably null	Het
Shld2	T	C	14: 33,990,150 (GRCm39)	D252G	possibly damaging	Het
Stard5	C	T	7: 83,282,397 (GRCm39)	P70L	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tas2r134	T	A	2: 51,518,247 (GRCm39)	L242H	probably damaging	Het
Tnrc6b	G	A	15: 80,807,779 (GRCm39)	R1577H	probably damaging	Het
Trappc11	C	A	8: 47,958,712 (GRCm39)	A716S	possibly damaging	Het
Wdr35	C	T	12: 9,058,655 (GRCm39)	T604M	probably damaging	Het
Zbtb24	T	G	10: 41,327,885 (GRCm39)	I257S	possibly damaging	Het

Other mutations in St7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:St7	APN	6	17,855,005 (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

2013-10-07