Mutagenetix > Incidental Mutation

Incidental Mutation 'R5514:Sacm1l'

440243

Institutional Source

Beutler Lab

Gene Symbol

Sacm1l

Ensembl Gene

ENSMUSG00000025240

Gene Name

SAC1 suppressor of actin mutations 1-like (yeast)

Synonyms

SAC1, Sac1p

MMRRC Submission

043074-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123358824-123421665 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 123415419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 465 (R465*)

Ref Sequence

ENSEMBL: ENSMUSP00000026270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026270] [ENSMUST00000026273]

AlphaFold

Q9EP69

Predicted Effect

probably null
Transcript: ENSMUST00000026270
AA Change: R465*

SMART Domains

Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: R465*

Domain	Start	End	E-Value	Type
Pfam:Syja_N	58	346	4.7e-88	PFAM
low complexity region	400	415	N/A	INTRINSIC
Blast:IPPc	416	500	3e-12	BLAST
transmembrane domain	521	543	N/A	INTRINSIC
transmembrane domain	550	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026273

SMART Domains

Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
Pfam:SNF	48	624	5.4e-173	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217089

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is localized to the endoplasmic reticulum and golgi, and functions as a phosphoinositide lipid phosphatase. Studies in mammals suggest that this gene is involved in the organization of golgi membranes and the mitotic spindles. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,390,520 (GRCm39)	S382G	probably damaging	Het
Agr2	G	A	12: 36,046,090 (GRCm39)	V74I	probably benign	Het
Aldh3a1	T	C	11: 61,108,867 (GRCm39)	S423P	probably damaging	Het
Ampd1	C	T	3: 102,986,488 (GRCm39)	H56Y	possibly damaging	Het
Arhgef2	C	A	3: 88,550,304 (GRCm39)	P670T	probably benign	Het
Blk	T	G	14: 63,615,930 (GRCm39)	D333A	probably damaging	Het
Bmi1	T	C	2: 18,686,714 (GRCm39)	I31T	probably damaging	Het
Cacna1d	G	A	14: 30,072,790 (GRCm39)	Q62*	probably null	Het
Ccdc88c	A	G	12: 100,879,698 (GRCm39)	S1801P	probably damaging	Het
Cdkal1	C	T	13: 29,961,270 (GRCm39)	A100T	probably damaging	Het
Cfap251	G	T	5: 123,425,829 (GRCm39)		probably null	Het
Chst4	G	T	8: 110,756,606 (GRCm39)	S419Y	probably damaging	Het
Cntn4	T	C	6: 106,649,844 (GRCm39)	I680T	probably damaging	Het
Ddx55	T	C	5: 124,694,875 (GRCm39)	V101A	probably damaging	Het
Ddx60	A	T	8: 62,411,091 (GRCm39)	E451V	probably damaging	Het
Dffa	T	A	4: 149,190,772 (GRCm39)		probably null	Het
Dgkd	A	G	1: 87,861,832 (GRCm39)	R796G	probably damaging	Het
Dzank1	T	A	2: 144,323,605 (GRCm39)	M614L	probably benign	Het
Elf2	G	T	3: 51,215,555 (GRCm39)	Q52K	probably damaging	Het
Fcamr	T	A	1: 130,741,793 (GRCm39)	L522Q	probably damaging	Het
Fscn2	T	C	11: 120,258,858 (GRCm39)	Y468H	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm4787	A	G	12: 81,425,102 (GRCm39)	V352A	possibly damaging	Het
Gtsf1	T	C	15: 103,336,802 (GRCm39)	Q13R	probably benign	Het
Itpkb	G	A	1: 180,241,474 (GRCm39)	V715M	probably damaging	Het
Jmjd1c	T	A	10: 67,053,928 (GRCm39)	S263T	probably damaging	Het
Krba1	T	G	6: 48,390,429 (GRCm39)	L736R	probably damaging	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Mtor	T	A	4: 148,630,901 (GRCm39)	V2286E	probably damaging	Het
Mybbp1a	T	A	11: 72,341,462 (GRCm39)	V1100E	possibly damaging	Het
Myo5a	G	A	9: 75,061,048 (GRCm39)	G518D	probably damaging	Het
Nalcn	A	T	14: 123,521,123 (GRCm39)	I1594N	probably benign	Het
Nav1	C	G	1: 135,398,299 (GRCm39)	G761A	probably benign	Het
Ncoa2	A	T	1: 13,251,445 (GRCm39)	L276H	probably damaging	Het
Ndufaf7	T	C	17: 79,245,051 (GRCm39)	Y57H	probably damaging	Het
Nfkb2	A	G	19: 46,299,847 (GRCm39)	Y807C	probably damaging	Het
Nid2	A	T	14: 19,852,535 (GRCm39)	Q1081L	probably damaging	Het
Nkain2	T	A	10: 31,827,189 (GRCm39)	I134F	probably damaging	Het
Nmu	A	C	5: 76,497,979 (GRCm39)	S69A	probably damaging	Het
Or4c15b	A	T	2: 89,112,817 (GRCm39)	I220N	probably damaging	Het
Or5t7	T	C	2: 86,507,225 (GRCm39)	I151V	probably benign	Het
Pard3	A	G	8: 128,153,086 (GRCm39)	R886G	probably damaging	Het
Pde6b	G	T	5: 108,571,317 (GRCm39)	Q423H	probably benign	Het
Pip5k1b	A	T	19: 24,327,505 (GRCm39)	D450E	probably damaging	Het
Plcg1	T	C	2: 160,595,275 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,103,246 (GRCm39)	S504P	possibly damaging	Het
Pomt2	A	T	12: 87,175,797 (GRCm39)	D312E	probably damaging	Het
Ppp1r1b	T	C	11: 98,246,228 (GRCm39)	L70P	probably damaging	Het
Prr5	C	A	15: 84,587,096 (GRCm39)	P282Q	probably benign	Het
Reln	A	T	5: 22,176,883 (GRCm39)	W1928R	possibly damaging	Het
Sema7a	A	G	9: 57,863,046 (GRCm39)	Y239C	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Svep1	T	C	4: 58,044,054 (GRCm39)	T3531A	possibly damaging	Het
Tjp1	A	T	7: 65,004,609 (GRCm39)	W19R	probably damaging	Het
Tmc2	T	A	2: 130,083,564 (GRCm39)	M507K	possibly damaging	Het
Unc13a	A	G	8: 72,095,795 (GRCm39)	Y1241H	probably damaging	Het
Upp1	C	T	11: 9,081,771 (GRCm39)	P103S	probably damaging	Het
Vldlr	A	G	19: 27,221,624 (GRCm39)	E663G	probably damaging	Het
Vmn2r68	G	A	7: 84,886,767 (GRCm39)	T49I	possibly damaging	Het
Xirp2	A	T	2: 67,335,465 (GRCm39)	M95L	probably benign	Het

Other mutations in Sacm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Sacm1l	APN	9	123,399,614 (GRCm39)	missense	possibly damaging	0.88
IGL02598:Sacm1l	APN	9	123,408,061 (GRCm39)	missense	probably benign	0.03
IGL02796:Sacm1l	UTSW	9	123,377,989 (GRCm39)	missense	possibly damaging	0.66
R0138:Sacm1l	UTSW	9	123,377,982 (GRCm39)	missense	probably benign	0.15
R0628:Sacm1l	UTSW	9	123,378,060 (GRCm39)	splice site	probably benign
R0847:Sacm1l	UTSW	9	123,377,927 (GRCm39)	missense	probably damaging	1.00
R1102:Sacm1l	UTSW	9	123,411,363 (GRCm39)	missense	probably damaging	0.98
R1159:Sacm1l	UTSW	9	123,395,476 (GRCm39)	missense	probably benign	0.06
R2898:Sacm1l	UTSW	9	123,389,666 (GRCm39)	critical splice donor site	probably null
R3001:Sacm1l	UTSW	9	123,414,149 (GRCm39)	splice site	probably benign
R3780:Sacm1l	UTSW	9	123,381,855 (GRCm39)	missense	probably benign	0.00
R3852:Sacm1l	UTSW	9	123,416,641 (GRCm39)	missense	probably damaging	1.00
R4731:Sacm1l	UTSW	9	123,419,895 (GRCm39)	missense	probably benign	0.03
R4732:Sacm1l	UTSW	9	123,419,895 (GRCm39)	missense	probably benign	0.03
R4733:Sacm1l	UTSW	9	123,419,895 (GRCm39)	missense	probably benign	0.03
R4894:Sacm1l	UTSW	9	123,411,409 (GRCm39)	missense	probably benign	0.17
R5021:Sacm1l	UTSW	9	123,411,393 (GRCm39)	missense	probably damaging	1.00
R5033:Sacm1l	UTSW	9	123,415,464 (GRCm39)	missense	probably damaging	1.00
R5075:Sacm1l	UTSW	9	123,411,327 (GRCm39)	missense	probably benign	0.00
R5135:Sacm1l	UTSW	9	123,406,090 (GRCm39)	missense	probably benign	0.00
R5284:Sacm1l	UTSW	9	123,415,485 (GRCm39)	missense	probably damaging	0.99
R5629:Sacm1l	UTSW	9	123,395,464 (GRCm39)	missense	probably benign
R6137:Sacm1l	UTSW	9	123,398,070 (GRCm39)	missense	probably damaging	1.00
R6266:Sacm1l	UTSW	9	123,371,485 (GRCm39)	missense	probably damaging	1.00
R7079:Sacm1l	UTSW	9	123,399,062 (GRCm39)	missense	probably damaging	1.00
R7147:Sacm1l	UTSW	9	123,398,016 (GRCm39)	missense	probably damaging	1.00
R8205:Sacm1l	UTSW	9	123,415,724 (GRCm39)	splice site	probably null
R8323:Sacm1l	UTSW	9	123,377,987 (GRCm39)	missense	probably benign	0.22
R8544:Sacm1l	UTSW	9	123,406,123 (GRCm39)	critical splice donor site	probably null
R8801:Sacm1l	UTSW	9	123,411,384 (GRCm39)	missense	probably damaging	1.00
R9131:Sacm1l	UTSW	9	123,381,827 (GRCm39)	nonsense	probably null
R9165:Sacm1l	UTSW	9	123,398,021 (GRCm39)	missense	probably damaging	1.00
R9732:Sacm1l	UTSW	9	123,381,863 (GRCm39)	missense	probably benign	0.00
Z1177:Sacm1l	UTSW	9	123,406,093 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- ACATGGGCTGTACTTCTTTTCATAG -3'
(R):5'- TGAAGCTGTGAACTTTCCAAAC -3'

Sequencing Primer
(F):5'- GGTTGTATCTATGGATTCAGCCAACC -3'
(R):5'- GCTGTGAACTTTCCAAACTTAATTTG -3'

Posted On

2016-11-08