Mutagenetix > Incidental Mutation

Incidental Mutation 'R6067:Satl1'

512243

Institutional Source

Beutler Lab

Gene Symbol

Satl1

Ensembl Gene

ENSMUSG00000025527

Gene Name

spermidine/spermine N1-acetyl transferase-like 1

Synonyms

4930404K22Rik

MMRRC Submission

044231-MU

Accession Numbers

Essential gene?

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

Stock #

R6067 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111294002-111316476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111315613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 281 (T281A)

Ref Sequence

ENSEMBL: ENSMUSP00000026601 (fasta)

Gene Model

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

AlphaFold

Q9D5N8

Predicted Effect

probably benign
Transcript: ENSMUST00000026601
AA Change: T281A

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

SMART Domains

Protein: ENSMUSP00000026601
Gene: ENSMUSG00000025527
AA Change: T281A

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 41,277,630 (GRCm39)	A7V	probably benign	Het
Cbfa2t3	T	C	8: 123,370,236 (GRCm39)	H53R	probably benign	Het
Fam90a1b	T	C	X: 93,400,191 (GRCm39)	N213S	probably benign	Het
Insm2	T	C	12: 55,646,799 (GRCm39)	I181T	probably damaging	Het
Kitl	G	A	10: 99,912,768 (GRCm39)		probably null	Het
Muc4	T	A	16: 32,575,621 (GRCm39)		probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Nop14	T	C	5: 34,815,295 (GRCm39)	D85G	probably damaging	Het
Pgk1	C	A	X: 105,238,098 (GRCm39)	L85I	possibly damaging	Het
Rad23b	C	T	4: 55,370,400 (GRCm39)	A142V	probably damaging	Het
Spmap2	A	G	10: 79,420,589 (GRCm39)	S159P	probably damaging	Het
Tbx5	T	C	5: 120,021,211 (GRCm39)	S406P	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Zfp1	T	C	8: 112,396,975 (GRCm39)	F299S	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
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
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'- CATCTGATGCATGCCTGGTTG -3'
(R):5'- TGACTCATCTACCAGACAATTCG -3'

Sequencing Primer
(F):5'- GGTGCCTGATTGCCATACATC -3'
(R):5'- TTCGACTTGAGACAAGCAGGTCC -3'

Posted On

2018-04-12