Mutagenetix > Incidental Mutation

Incidental Mutation 'R4248:Satl1'

320511

Institutional Source

Beutler Lab

Gene Symbol

Satl1

Ensembl Gene

ENSMUSG00000025527

Gene Name

spermidine/spermine N1-acetyl transferase-like 1

Synonyms

4930404K22Rik

MMRRC Submission

041064-MU

Accession Numbers

Essential gene?

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

Stock #

R4248 (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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,606,013 (GRCm39)	N36S	possibly damaging	Het
Alox12b	G	A	11: 69,054,431 (GRCm39)	V250I	probably benign	Het
Armt1	T	C	10: 4,389,687 (GRCm39)	F115L	probably benign	Het
Cdh9	T	C	15: 16,850,474 (GRCm39)	F536L	probably benign	Het
Fbxo25	T	C	8: 13,989,617 (GRCm39)	S355P	probably damaging	Het
Fhod3	A	G	18: 25,123,123 (GRCm39)	K271R	probably null	Het
Gapt	C	A	13: 110,490,289 (GRCm39)	V125F	probably damaging	Het
Gucd1	A	T	10: 75,345,662 (GRCm39)	V131E	probably damaging	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Hivep2	A	G	10: 14,007,299 (GRCm39)	E1299G	probably damaging	Het
Hnf4g	A	G	3: 3,717,909 (GRCm39)	D342G	possibly damaging	Het
Kmt2b	C	T	7: 30,273,489 (GRCm39)	R2349H	probably benign	Het
Lama5	C	T	2: 179,822,220 (GRCm39)	R2896Q	possibly damaging	Het
Moxd2	A	C	6: 40,855,933 (GRCm39)	I552S	probably damaging	Het
Nkx1-2	TGGTGAGAGGGGGCCGCCTTGGCCCCG	TG	7: 132,201,209 (GRCm39)		probably null	Het
Onecut3	A	G	10: 80,349,963 (GRCm39)	T486A	possibly damaging	Het
Or8g36	A	G	9: 39,422,899 (GRCm39)	V39A	probably benign	Het
Pik3cb	T	C	9: 98,983,229 (GRCm39)		probably null	Het
Pirb	A	G	7: 3,722,297 (GRCm39)	F182S	probably damaging	Het
Rev1	C	T	1: 38,146,729 (GRCm39)	R34H	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Tep1	T	C	14: 51,100,351 (GRCm39)	H389R	possibly damaging	Het
Tnfrsf1b	G	A	4: 144,942,535 (GRCm39)	A416V	probably benign	Het
Ust	A	T	10: 8,393,982 (GRCm39)	L61Q	possibly damaging	Het
Vmn2r101	A	T	17: 19,809,376 (GRCm39)	K168N	probably damaging	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
R4247: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