Mutagenetix > Incidental Mutation

Incidental Mutation 'R6079:Satl1'

482874

Institutional Source

Beutler Lab

Gene Symbol

Satl1

Ensembl Gene

ENSMUSG00000025527

Gene Name

spermidine/spermine N1-acetyl transferase-like 1

Synonyms

4930404K22Rik

Accession Numbers

Essential gene?

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

Stock #

R6079 (G1)

Quality Score

221.999

Status

Not 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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abcc8	T	C	7: 45,755,268 (GRCm39)	M1511V	probably benign	Het
Adamts2	T	A	11: 50,647,533 (GRCm39)	I302N	probably damaging	Het
Adgra2	G	A	8: 27,604,457 (GRCm39)	A511T	probably damaging	Het
Anxa10	C	A	8: 62,530,960 (GRCm39)	M83I	probably benign	Het
Atp2b4	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	1: 133,629,440 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,576 (GRCm39)	F485S	probably damaging	Het
Edc4	C	T	8: 106,614,180 (GRCm39)	R19C	probably benign	Het
Fam90a1b	T	C	X: 93,400,191 (GRCm39)	N213S	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Itgae	A	G	11: 73,006,400 (GRCm39)	E356G	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc19	A	T	4: 94,531,580 (GRCm39)	F11I	probably benign	Het
Msl1	G	T	11: 98,689,519 (GRCm39)	G9C	probably benign	Het
Muc4	T	A	16: 32,575,621 (GRCm39)		probably benign	Het
Myo7a	C	T	7: 97,714,997 (GRCm39)	W1558*	probably null	Het
Or5p81	T	A	7: 108,267,412 (GRCm39)	V263E	probably damaging	Het
Pgk1	C	A	X: 105,238,098 (GRCm39)	L85I	possibly damaging	Het
Ppp4r1	G	A	17: 66,121,343 (GRCm39)	V268I	possibly damaging	Het
Rad23b	C	T	4: 55,370,400 (GRCm39)	A142V	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Synrg	A	G	11: 83,915,126 (GRCm39)	E1044G	probably damaging	Het
Syt12	T	C	19: 4,506,896 (GRCm39)	D83G	probably benign	Het
Taf4b	T	C	18: 14,955,255 (GRCm39)	C603R	possibly damaging	Het
Tbx5	T	C	5: 120,021,211 (GRCm39)	S406P	probably benign	Het
Tfe3	T	C	X: 7,637,288 (GRCm39)	L231P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly 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
R6067: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'- TCCATCTGATGCATGCCTGG -3'
(R):5'- TGACTCATCTACCAGACAATTCG -3'

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

Posted On

2017-07-14