Mutagenetix > Incidental Mutation

Incidental Mutation 'R0345:St7l'

38372

Institutional Source

Beutler Lab

Gene Symbol

St7l

Ensembl Gene

ENSMUSG00000045576

Gene Name

suppression of tumorigenicity 7-like

Synonyms

St7r

MMRRC Submission

038552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0345 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

104771822-104837384 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 104803125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143759 (fasta)

Gene Model

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

AlphaFold

Q8K4P7

Predicted Effect

probably benign
Transcript: ENSMUST00000059271

SMART Domains

Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576

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 benign
Transcript: ENSMUST00000106769

SMART Domains

Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576

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

noncoding transcript
Transcript: ENSMUST00000140457

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: ENSMUST00000197098

Predicted Effect

probably benign
Transcript: ENSMUST00000199335

Predicted Effect

probably benign
Transcript: ENSMUST00000200132

SMART Domains

Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576

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

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	C	14: 59,377,079 (GRCm39)	N105D	possibly damaging	Het
A2m	T	C	6: 121,615,231 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,415,198 (GRCm39)	N641S	probably damaging	Het
Aff4	T	A	11: 53,263,708 (GRCm39)	S243T	probably benign	Het
Agap2	A	G	10: 126,923,764 (GRCm39)	H713R	unknown	Het
Ap2a2	T	A	7: 141,211,206 (GRCm39)	M914K	probably damaging	Het
Bcl7c	A	T	7: 127,307,635 (GRCm39)	M22K	possibly damaging	Het
Cacna1i	A	T	15: 80,256,663 (GRCm39)	D1019V	probably damaging	Het
Cd7	T	C	11: 120,929,012 (GRCm39)	T80A	probably benign	Het
Chia1	T	C	3: 106,029,755 (GRCm39)	Y130H	probably damaging	Het
Chmp6	T	C	11: 119,808,872 (GRCm39)		probably benign	Het
Chrnb4	A	G	9: 54,942,878 (GRCm39)	V132A	probably benign	Het
Ctnna3	A	G	10: 63,402,619 (GRCm39)	D110G	probably benign	Het
Cyp2d37-ps	A	T	15: 82,573,975 (GRCm39)		noncoding transcript	Het
Dnah6	T	C	6: 72,998,240 (GRCm39)	M4061V	probably benign	Het
Dydc2	C	A	14: 40,783,903 (GRCm39)	M73I	probably benign	Het
Egflam	G	T	15: 7,319,475 (GRCm39)		probably null	Het
Fam228b	C	T	12: 4,798,351 (GRCm39)	V151I	possibly damaging	Het
Fanca	C	T	8: 124,031,552 (GRCm39)	V380I	probably damaging	Het
Gbp2b	T	C	3: 142,313,944 (GRCm39)	L408S	probably damaging	Het
Kcnh4	T	C	11: 100,648,507 (GRCm39)	S66G	probably benign	Het
Kcnq3	A	T	15: 65,892,154 (GRCm39)	V407D	possibly damaging	Het
Kif24	A	T	4: 41,428,413 (GRCm39)	D182E	probably benign	Het
Llgl2	A	G	11: 115,740,818 (GRCm39)		probably benign	Het
Lmo7	T	A	14: 102,114,313 (GRCm39)	N140K	probably damaging	Het
Myo5c	A	G	9: 75,204,701 (GRCm39)	E1518G	probably damaging	Het
Myof	A	T	19: 38,012,793 (GRCm39)	N47K	probably damaging	Het
Nckap1	G	T	2: 80,375,321 (GRCm39)		probably benign	Het
Nlrp1a	C	A	11: 71,014,501 (GRCm39)	G250W	probably damaging	Het
Nol4l	T	A	2: 153,253,672 (GRCm39)	S390C	probably benign	Het
Or2ag2b	T	C	7: 106,417,908 (GRCm39)	F206S	probably benign	Het
Or52e18	T	A	7: 104,609,388 (GRCm39)	M184L	probably damaging	Het
Or5ak22	T	C	2: 85,230,685 (GRCm39)	Q64R	possibly damaging	Het
Or5h26	G	A	16: 58,988,269 (GRCm39)	P79L	possibly damaging	Het
Plec	G	T	15: 76,061,367 (GRCm39)	P2886T	probably damaging	Het
Prdm16	T	C	4: 154,425,568 (GRCm39)	Y738C	probably benign	Het
Ptprz1	A	G	6: 23,016,164 (GRCm39)	Y820C	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,718,019 (GRCm39)	P98S	probably damaging	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc6a16	C	T	7: 44,908,672 (GRCm39)	A84V	possibly damaging	Het
Sntb2	T	C	8: 107,728,170 (GRCm39)	S373P	probably damaging	Het
Sorcs2	C	T	5: 36,185,218 (GRCm39)	V953I	probably benign	Het
Spata31f1a	T	C	4: 42,851,116 (GRCm39)	I347V	probably benign	Het
Stap2	A	G	17: 56,307,097 (GRCm39)	V217A	probably damaging	Het
Stxbp5l	A	T	16: 37,108,670 (GRCm39)	D215E	probably damaging	Het
Synm	C	T	7: 67,385,569 (GRCm39)	V256I	probably benign	Het
Syt13	A	C	2: 92,776,412 (GRCm39)	E233A	possibly damaging	Het
Tecta	T	A	9: 42,295,514 (GRCm39)	E327V	probably damaging	Het
Tent5b	A	T	4: 133,213,522 (GRCm39)	Q131L	probably benign	Het
Themis3	A	T	17: 66,866,540 (GRCm39)		probably null	Het
Ttll13	T	A	7: 79,897,084 (GRCm39)	D14E	probably benign	Het
Tubb2a	A	C	13: 34,260,620 (GRCm39)	D26E	probably benign	Het
Ubr1	T	C	2: 120,734,584 (GRCm39)		probably null	Het
Vps13d	A	T	4: 144,844,195 (GRCm39)	V2537E	possibly damaging	Het
Zscan10	T	A	17: 23,829,056 (GRCm39)	F456I	probably damaging	Het
Zyg11b	A	G	4: 108,123,604 (GRCm39)	I121T	probably damaging	Het

Other mutations in St7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:St7l	APN	3	104,780,895 (GRCm39)	splice site	probably benign
IGL00919:St7l	APN	3	104,833,782 (GRCm39)	missense	probably damaging	1.00
IGL00945:St7l	APN	3	104,833,798 (GRCm39)	missense	probably damaging	0.96
IGL01644:St7l	APN	3	104,826,772 (GRCm39)	nonsense	probably null
IGL02158:St7l	APN	3	104,782,148 (GRCm39)	missense	possibly damaging	0.48
IGL02164:St7l	APN	3	104,829,597 (GRCm39)	critical splice donor site	probably null
IGL02331:St7l	APN	3	104,833,904 (GRCm39)	missense	probably damaging	0.98
IGL03220:St7l	APN	3	104,782,139 (GRCm39)	splice site	probably benign
R0118:St7l	UTSW	3	104,796,619 (GRCm39)	missense	probably damaging	0.97
R0320:St7l	UTSW	3	104,778,229 (GRCm39)	nonsense	probably null
R0714:St7l	UTSW	3	104,782,244 (GRCm39)	missense	probably benign	0.06
R0784:St7l	UTSW	3	104,778,240 (GRCm39)	missense	probably benign	0.13
R1664:St7l	UTSW	3	104,778,214 (GRCm39)	missense	probably damaging	1.00
R1719:St7l	UTSW	3	104,778,303 (GRCm39)	missense	probably benign	0.00
R1800:St7l	UTSW	3	104,826,812 (GRCm39)	missense	probably damaging	1.00
R1882:St7l	UTSW	3	104,775,363 (GRCm39)	missense	probably damaging	1.00
R3692:St7l	UTSW	3	104,798,870 (GRCm39)	missense	probably benign	0.27
R3879:St7l	UTSW	3	104,833,763 (GRCm39)	missense	probably damaging	1.00
R5130:St7l	UTSW	3	104,803,080 (GRCm39)	missense	probably damaging	1.00
R5271:St7l	UTSW	3	104,775,376 (GRCm39)	missense	probably damaging	1.00
R5887:St7l	UTSW	3	104,782,244 (GRCm39)	missense	probably benign	0.06
R6191:St7l	UTSW	3	104,775,349 (GRCm39)	missense	probably damaging	1.00
R6252:St7l	UTSW	3	104,826,819 (GRCm39)	critical splice donor site	probably null
R7307:St7l	UTSW	3	104,796,669 (GRCm39)	missense	probably benign	0.03
R7442:St7l	UTSW	3	104,796,645 (GRCm39)	missense	possibly damaging	0.93
R7860:St7l	UTSW	3	104,833,893 (GRCm39)	missense	probably benign	0.05
R8523:St7l	UTSW	3	104,775,373 (GRCm39)	missense	probably damaging	1.00
R8934:St7l	UTSW	3	104,796,634 (GRCm39)	missense	probably damaging	1.00
R8935:St7l	UTSW	3	104,778,204 (GRCm39)	missense	probably damaging	1.00
Z1177:St7l	UTSW	3	104,772,625 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTGTCCGAGTTGAACCAGAGAC -3'
(R):5'- TGCATTCATCACCAAAAGGAGGGAG -3'

Sequencing Primer
(F):5'- TCCGAGTTGAACCAGAGACTTTAC -3'
(R):5'- agggagatgaacttgaacgac -3'

Posted On

2013-05-23