Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02331:St7l'

288685

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

St7l

Ensembl Gene

ENSMUSG00000045576

Gene Name

suppression of tumorigenicity 7-like

Synonyms

St7r

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02331

Quality Score

Status

Chromosome

Chromosomal Location

104864005-104930064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104926588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 522 (T522A)

Ref Sequence

ENSEMBL: ENSMUSP00000102380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059271] [ENSMUST00000106769] [ENSMUST00000183914] [ENSMUST00000200132]

AlphaFold

Q8K4P7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059271
AA Change: T554A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576
AA Change: T554A

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
Pfam:ST7	41	559	1.6e-292	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106769
AA Change: T522A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576
AA Change: T522A

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
Pfam:ST7	41	420	8.2e-209	PFAM
Pfam:ST7	419	527	1.4e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183914

SMART Domains

Protein: ENSMUSP00000139266
Gene: ENSMUSG00000045576

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
low complexity region	107	120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200132
AA Change: T476A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576
AA Change: T476A

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
Pfam:ST7	41	212	2.7e-81	PFAM
Pfam:ST7	209	481	1.3e-167	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	G	11: 105,971,344	F241L	possibly damaging	Het
Alx1	A	G	10: 103,022,299	F180L	possibly damaging	Het
Apaf1	T	C	10: 91,059,619	D428G	probably damaging	Het
Arap2	G	T	5: 62,649,682		probably benign	Het
Arnt2	A	G	7: 84,265,624	Y511H	probably damaging	Het
Bmp7	A	T	2: 172,872,931	C362S	probably damaging	Het
Bpifb9a	A	G	2: 154,262,387	D250G	possibly damaging	Het
Ccnk	T	A	12: 108,189,084	L100H	probably damaging	Het
Cdh23	T	C	10: 60,465,543	I451V	probably damaging	Het
Cemip	A	G	7: 83,963,984		probably null	Het
Cep78	T	A	19: 15,974,415	Q342L	probably benign	Het
Clca3b	T	C	3: 144,841,406		probably benign	Het
Cpb2	A	G	14: 75,283,404	R420G	possibly damaging	Het
Cyp2c50	A	T	19: 40,090,943		probably null	Het
Dbnl	T	C	11: 5,799,997	*433R	probably null	Het
Elovl5	T	C	9: 77,979,899	S191P	possibly damaging	Het
Fbxo42	A	G	4: 141,167,846	E40G	probably benign	Het
Fpgt	T	C	3: 155,087,862	D176G	possibly damaging	Het
Gm1110	C	A	9: 26,913,287		probably null	Het
Grik4	A	T	9: 42,541,988	S700R	probably damaging	Het
Herc4	T	C	10: 63,264,160	S121P	probably benign	Het
Hps4	T	C	5: 112,369,536	V263A	probably benign	Het
Hsd11b1	A	C	1: 193,240,616	L81R	probably damaging	Het
Ift122	T	C	6: 115,887,324	M310T	probably damaging	Het
Isg20l2	G	T	3: 87,932,087	V202L	probably damaging	Het
Klf3	A	G	5: 64,829,072	K111E	probably damaging	Het
Kxd1	T	C	8: 70,515,440	T128A	probably benign	Het
Lgals7	A	G	7: 28,865,718	T94A	probably benign	Het
Lrp5	T	C	19: 3,591,816	H1382R	possibly damaging	Het
Muc6	T	C	7: 141,640,459	T1434A	possibly damaging	Het
Mybl2	C	T	2: 163,074,685	R419W	probably damaging	Het
Myo5b	A	T	18: 74,638,040		probably null	Het
Myo7a	A	G	7: 98,053,182	V2138A	possibly damaging	Het
Naip1	T	A	13: 100,426,796	K620N	probably benign	Het
Ntrk2	T	C	13: 58,846,856		probably null	Het
Olfr935	A	G	9: 38,995,106	S110P	probably damaging	Het
Osbpl5	A	G	7: 143,709,795	V105A	probably benign	Het
Pfkp	A	C	13: 6,597,960	F527V	probably benign	Het
Pilra	C	A	5: 137,835,655	G47*	probably null	Het
Pkdrej	C	A	15: 85,821,327	C136F	probably damaging	Het
Ppp1r16a	T	A	15: 76,691,000	M36K	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rnf40	T	C	7: 127,589,827	V124A	probably benign	Het
Stox2	G	A	8: 47,191,944	P891L	probably damaging	Het
Trbv12-1	T	C	6: 41,114,038	S115P	probably damaging	Het
Trpm1	A	G	7: 64,235,052	D827G	probably benign	Het
Ttll6	T	A	11: 96,135,747	M119K	probably damaging	Het
Ufl1	C	A	4: 25,251,971	C568F	probably damaging	Het
Usp29	A	T	7: 6,962,156	I333F	probably benign	Het
Vta1	G	A	10: 14,705,394	T23M	probably damaging	Het
Zswim8	A	G	14: 20,723,257	D1771G	probably damaging	Het

Other mutations in St7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:St7l	APN	3	104873579	splice site	probably benign
IGL00919:St7l	APN	3	104926466	missense	probably damaging	1.00
IGL00945:St7l	APN	3	104926482	missense	probably damaging	0.96
IGL01644:St7l	APN	3	104919456	nonsense	probably null
IGL02158:St7l	APN	3	104874832	missense	possibly damaging	0.48
IGL02164:St7l	APN	3	104922281	critical splice donor site	probably null
IGL03220:St7l	APN	3	104874823	splice site	probably benign
R0118:St7l	UTSW	3	104889303	missense	probably damaging	0.97
R0320:St7l	UTSW	3	104870913	nonsense	probably null
R0345:St7l	UTSW	3	104895809	splice site	probably benign
R0714:St7l	UTSW	3	104874928	missense	probably benign	0.06
R0784:St7l	UTSW	3	104870924	missense	probably benign	0.13
R1664:St7l	UTSW	3	104870898	missense	probably damaging	1.00
R1719:St7l	UTSW	3	104870987	missense	probably benign	0.00
R1800:St7l	UTSW	3	104919496	missense	probably damaging	1.00
R1882:St7l	UTSW	3	104868047	missense	probably damaging	1.00
R3692:St7l	UTSW	3	104891554	missense	probably benign	0.27
R3879:St7l	UTSW	3	104926447	missense	probably damaging	1.00
R5130:St7l	UTSW	3	104895764	missense	probably damaging	1.00
R5271:St7l	UTSW	3	104868060	missense	probably damaging	1.00
R5887:St7l	UTSW	3	104874928	missense	probably benign	0.06
R6191:St7l	UTSW	3	104868033	missense	probably damaging	1.00
R6252:St7l	UTSW	3	104919503	critical splice donor site	probably null
R7307:St7l	UTSW	3	104889353	missense	probably benign	0.03
R7442:St7l	UTSW	3	104889329	missense	possibly damaging	0.93
R7860:St7l	UTSW	3	104926577	missense	probably benign	0.05
R8523:St7l	UTSW	3	104868057	missense	probably damaging	1.00
R8934:St7l	UTSW	3	104889318	missense	probably damaging	1.00
R8935:St7l	UTSW	3	104870888	missense	probably damaging	1.00
Z1177:St7l	UTSW	3	104865309	critical splice donor site	probably null

Posted On

2015-04-16