Mutagenetix > Incidental Mutation

Incidental Mutation 'R4247:Satl1'

320484

Institutional Source

Beutler Lab

Gene Symbol

Satl1

Ensembl Gene

ENSMUSG00000025527

Gene Name

spermidine/spermine N1-acetyl transferase-like 1

Synonyms

4930404K22Rik

MMRRC Submission

041063-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4247 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

111294002-111316476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111316033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 141 (S141P)

Ref Sequence

ENSEMBL: ENSMUSP00000026601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026601]

AlphaFold

Q9D5N8

Predicted Effect

probably benign
Transcript: ENSMUST00000026601
AA Change: S141P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026601
Gene: ENSMUSG00000025527
AA Change: S141P

Domain	Start	End	E-Value	Type
internal_repeat_2	13	201	4.46e-7	PROSPERO
internal_repeat_1	30	255	8.83e-12	PROSPERO
low complexity region	260	271	N/A	INTRINSIC
low complexity region	318	329	N/A	INTRINSIC
internal_repeat_1	333	584	8.83e-12	PROSPERO
internal_repeat_2	399	595	4.46e-7	PROSPERO
Pfam:Acetyltransf_1	638	718	2.4e-10	PFAM
low complexity region	734	744	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124335

SMART Domains

Protein: ENSMUSP00000122770
Gene: ENSMUSG00000025527

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
Pfam:Acetyltransf_1	327	407	1.5e-9	PFAM
low complexity region	423	433	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,195,626 (GRCm39)	I305V	probably benign	Het
Aga	T	A	8: 53,964,865 (GRCm39)	L9Q	possibly damaging	Het
Akna	C	T	4: 63,313,409 (GRCm39)	G238D	probably benign	Het
Arhgap23	G	A	11: 97,354,525 (GRCm39)	E813K	probably damaging	Het
Atp13a2	T	C	4: 140,719,539 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,824,917 (GRCm39)	G820S	probably damaging	Het
Ccdc97	T	G	7: 25,415,459 (GRCm39)	H68P	possibly damaging	Het
Dclre1b	A	C	3: 103,711,400 (GRCm39)		probably null	Het
Erap1	T	C	13: 74,823,414 (GRCm39)	I816T	probably damaging	Het
Fubp1	G	A	3: 151,937,573 (GRCm39)	A103T	possibly damaging	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gtf3c5	T	C	2: 28,461,196 (GRCm39)	D306G	probably damaging	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Hsdl2	A	T	4: 59,594,417 (GRCm39)	N16I	probably damaging	Het
Kif14	G	T	1: 136,401,126 (GRCm39)	M492I	possibly damaging	Het
Kif27	A	G	13: 58,435,731 (GRCm39)	V1354A	probably damaging	Het
Kif9	G	T	9: 110,325,027 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Lrrc24	A	G	15: 76,602,176 (GRCm39)	I193T	possibly damaging	Het
Or2bd2	A	G	7: 6,441,901 (GRCm39)		probably benign	Het
Or52b1	T	C	7: 104,979,355 (GRCm39)	I15V	probably benign	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Pramel52-ps	A	G	5: 94,531,446 (GRCm39)	D110G	possibly damaging	Het
Ranbp2	A	G	10: 58,314,686 (GRCm39)	D1802G	possibly damaging	Het
Resf1	T	A	6: 149,227,041 (GRCm39)	M29K	possibly damaging	Het
Scn11a	C	T	9: 119,636,952 (GRCm39)	V250M	probably damaging	Het
Slitrk1	A	G	14: 109,149,994 (GRCm39)	V239A	possibly damaging	Het
Slitrk6	T	A	14: 110,988,171 (GRCm39)	D512V	probably damaging	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Tamalin	G	T	15: 101,122,418 (GRCm39)	R79L	possibly damaging	Het
Trp73	A	G	4: 154,149,089 (GRCm39)		probably null	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Upp1	T	C	11: 9,084,815 (GRCm39)	I178T	probably benign	Het
Vmn2r73	A	T	7: 85,521,883 (GRCm39)	L152Q	probably damaging	Het
Vmn2r97	T	C	17: 19,167,542 (GRCm39)	S599P	possibly damaging	Het
Wrnip1	T	C	13: 32,990,866 (GRCm39)	L375P	probably damaging	Het
Zfp945	C	T	17: 23,069,583 (GRCm39)	G793D	probably damaging	Het
Zfyve9	C	A	4: 108,576,389 (GRCm39)	A231S	probably benign	Het

Other mutations in Satl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Satl1	APN	X	111,315,466 (GRCm39)	missense	possibly damaging	0.95
R4246:Satl1	UTSW	X	111,316,033 (GRCm39)	missense	probably benign
R4248:Satl1	UTSW	X	111,316,033 (GRCm39)	missense	probably benign
R4249:Satl1	UTSW	X	111,316,033 (GRCm39)	missense	probably benign
R4250:Satl1	UTSW	X	111,316,033 (GRCm39)	missense	probably benign
R6067:Satl1	UTSW	X	111,315,613 (GRCm39)	missense	probably benign
R6079:Satl1	UTSW	X	111,315,613 (GRCm39)	missense	probably benign
R6138:Satl1	UTSW	X	111,315,613 (GRCm39)	missense	probably benign
U15987:Satl1	UTSW	X	111,315,613 (GRCm39)	missense	probably benign
Z1176:Satl1	UTSW	X	111,314,689 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CACACTTGGAGGGCTTGATTC -3'
(R):5'- TATAAATCAAGCAGGCCAGAGC -3'

Sequencing Primer
(F):5'- GAGGGCTTGATTCCCATTGCC -3'
(R):5'- AACCGTGGTCAAGCACG -3'

Posted On

2015-06-12