Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01612:Sat2'

92180

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sat2

Ensembl Gene

ENSMUSG00000069835

Gene Name

spermidine/spermine N1-acetyl transferase 2

Synonyms

SSAT2, 2610016A03Rik, SSAT-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

IGL01612

Quality Score

Status

Chromosome

Chromosomal Location

69512850-69514696 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 69513789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092969] [ENSMUST00000108656]

AlphaFold

Q6P8J2

Predicted Effect

probably null
Transcript: ENSMUST00000092969

SMART Domains

Protein: ENSMUSP00000090647
Gene: ENSMUSG00000069835

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	13	144	1.4e-8	PFAM
Pfam:Acetyltransf_7	63	145	3e-11	PFAM
Pfam:Acetyltransf_1	66	146	2.2e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108656

SMART Domains

Protein: ENSMUSP00000104296
Gene: ENSMUSG00000069835

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	53	144	3.2e-10	PFAM
Pfam:Acetyltransf_1	65	146	5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151255

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,988 (GRCm39)	T1326A	possibly damaging	Het
Afg3l1	C	T	8: 124,221,592 (GRCm39)	R484C	probably benign	Het
Atg2a	C	A	19: 6,302,514 (GRCm39)	Q946K	probably benign	Het
Cdh20	T	C	1: 104,921,895 (GRCm39)	Y731H	probably benign	Het
Cdk15	A	G	1: 59,328,932 (GRCm39)	D282G	possibly damaging	Het
Ctnnd2	T	C	15: 31,005,164 (GRCm39)	S1073P	probably damaging	Het
Dnah2	T	C	11: 69,355,889 (GRCm39)		probably benign	Het
Evi2a	T	A	11: 79,417,978 (GRCm39)	R211W	probably damaging	Het
Fmo1	T	A	1: 162,661,168 (GRCm39)	I372F	probably benign	Het
Glyctk	T	C	9: 106,032,471 (GRCm39)	D514G	probably damaging	Het
Gmnc	G	A	16: 26,779,069 (GRCm39)	Q313*	probably null	Het
Grik1	T	C	16: 87,743,623 (GRCm39)	T520A	probably damaging	Het
Gtsf2	A	T	15: 103,353,340 (GRCm39)	C9S	probably damaging	Het
Ift80	T	G	3: 68,870,996 (GRCm39)	N200T	possibly damaging	Het
Ints1	A	G	5: 139,742,047 (GRCm39)	S1771P	probably benign	Het
Lrba	A	G	3: 86,683,484 (GRCm39)	T2769A	possibly damaging	Het
Lrfn2	G	T	17: 49,377,425 (GRCm39)	V169L	possibly damaging	Het
Mei1	G	A	15: 81,973,753 (GRCm39)	R80H	probably damaging	Het
Nbeal2	A	T	9: 110,473,746 (GRCm39)	V31E	probably damaging	Het
Ncapd2	G	T	6: 125,154,835 (GRCm39)	P546T	probably benign	Het
Or52l1	A	G	7: 104,829,929 (GRCm39)	V212A	probably damaging	Het
Pan3	T	C	5: 147,390,052 (GRCm39)		probably benign	Het
Rab3b	T	A	4: 108,781,223 (GRCm39)		probably null	Het
Rabl2	T	C	15: 89,467,615 (GRCm39)	K119E	probably benign	Het
Reln	A	G	5: 22,101,928 (GRCm39)	V3334A	probably damaging	Het
Rfx1	A	G	8: 84,819,601 (GRCm39)		probably null	Het
Rhod	T	C	19: 4,476,247 (GRCm39)	Y168C	probably damaging	Het
Sag	T	C	1: 87,733,071 (GRCm39)	I13T	probably damaging	Het
Scn5a	A	T	9: 119,315,091 (GRCm39)	D1872E	possibly damaging	Het
Sh2b2	T	G	5: 136,260,656 (GRCm39)	I187L	probably benign	Het
Slit3	G	A	11: 35,591,211 (GRCm39)	G1341D	possibly damaging	Het
Tmed11	A	T	5: 108,927,750 (GRCm39)	S95T	possibly damaging	Het
Tmem186	A	G	16: 8,453,733 (GRCm39)	V176A	possibly damaging	Het
Trim12c	A	T	7: 103,997,422 (GRCm39)	S45T	possibly damaging	Het
Ube4b	C	A	4: 149,468,275 (GRCm39)	R167L	probably damaging	Het
Zfp335	A	T	2: 164,752,540 (GRCm39)		probably null	Het

Other mutations in Sat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02391:Sat2	APN	11	69,513,575 (GRCm39)	missense	probably damaging	1.00
R5352:Sat2	UTSW	11	69,513,141 (GRCm39)	missense	probably damaging	0.99
R6484:Sat2	UTSW	11	69,513,353 (GRCm39)	missense	probably damaging	0.99
R7385:Sat2	UTSW	11	69,513,763 (GRCm39)	missense	probably damaging	0.98
R9030:Sat2	UTSW	11	69,513,069 (GRCm39)	utr 5 prime	probably benign
R9471:Sat2	UTSW	11	69,513,725 (GRCm39)	missense	probably damaging	1.00
Z1176:Sat2	UTSW	11	69,513,556 (GRCm39)	nonsense	probably null

Posted On

2013-12-09