Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02598:Sacm1l'

299961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sacm1l

Ensembl Gene

ENSMUSG00000025240

Gene Name

SAC1 suppressor of actin mutations 1-like (yeast)

Synonyms

SAC1, Sac1p

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02598

Quality Score

Status

Chromosome

Chromosomal Location

123358824-123421665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123408061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 350 (D350G)

Ref Sequence

ENSEMBL: ENSMUSP00000026270 (fasta)

Gene Model

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

AlphaFold

Q9EP69

Predicted Effect

probably benign
Transcript: ENSMUST00000026270
AA Change: D350G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: D350G

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

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,834,448 (GRCm39)	M1K	probably null	Het
Abca13	C	T	11: 9,381,898 (GRCm39)	T3850I	probably damaging	Het
Abcc4	A	T	14: 118,905,781 (GRCm39)	L95*	probably null	Het
Acacb	A	G	5: 114,384,098 (GRCm39)	Y2209C	probably damaging	Het
Acadm	A	G	3: 153,644,181 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,269,417 (GRCm39)	V1177M	probably damaging	Het
Atp8a1	A	T	5: 67,840,099 (GRCm39)		probably null	Het
Catsperd	A	G	17: 56,954,815 (GRCm39)		probably null	Het
Cd28	A	G	1: 60,802,498 (GRCm39)		probably benign	Het
Cep164	A	G	9: 45,682,002 (GRCm39)	Y1934H	probably damaging	Het
Cep350	T	C	1: 155,738,713 (GRCm39)	I2377V	probably benign	Het
Csmd3	T	C	15: 47,533,086 (GRCm39)	K1581E	probably damaging	Het
Dab2	A	T	15: 6,458,847 (GRCm39)	N232I	probably damaging	Het
Dyrk4	G	A	6: 126,860,982 (GRCm39)		probably benign	Het
Efcab14	T	A	4: 115,597,631 (GRCm39)	C75*	probably null	Het
Elovl1	T	C	4: 118,288,616 (GRCm39)		probably null	Het
Eps8l2	T	G	7: 140,934,849 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,744,872 (GRCm39)	V460E	probably damaging	Het
Gtf2f2	A	G	14: 76,245,182 (GRCm39)	S35P	probably benign	Het
Ifi203	A	G	1: 173,762,568 (GRCm39)		probably benign	Het
Ifi209	T	C	1: 173,472,281 (GRCm39)	V374A	probably damaging	Het
Kics2	G	A	10: 121,575,876 (GRCm39)		probably benign	Het
Lars1	A	G	18: 42,360,342 (GRCm39)	S705P	possibly damaging	Het
Lcmt1	A	G	7: 123,020,871 (GRCm39)		probably benign	Het
Limd1	T	C	9: 123,345,933 (GRCm39)	S571P	probably benign	Het
Limd1	T	A	9: 123,309,236 (GRCm39)	Y312N	probably benign	Het
Lin28b	A	T	10: 45,296,622 (GRCm39)	D125E	possibly damaging	Het
Lmtk3	T	C	7: 45,442,564 (GRCm39)	S416P	probably damaging	Het
Map7d3	T	C	X: 55,855,146 (GRCm39)	T446A	probably benign	Het
Masp1	T	A	16: 23,278,381 (GRCm39)	M523L	probably benign	Het
Mroh4	C	A	15: 74,483,092 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,537,953 (GRCm39)	A651T	probably damaging	Het
Myocd	A	G	11: 65,074,296 (GRCm39)	S738P	probably benign	Het
Or10a2	A	T	7: 106,673,923 (GRCm39)	N296I	possibly damaging	Het
Or4d5	A	T	9: 40,011,861 (GRCm39)	F308L	probably benign	Het
Or52l1	A	G	7: 104,830,163 (GRCm39)	V134A	probably damaging	Het
Or5d46	A	T	2: 88,170,595 (GRCm39)	I229F	possibly damaging	Het
Or6c3b	A	T	10: 129,527,142 (GRCm39)	I256N	possibly damaging	Het
Parg	G	T	14: 31,936,281 (GRCm39)	V479L	probably damaging	Het
Pcdhb10	C	A	18: 37,546,834 (GRCm39)	H637N	possibly damaging	Het
Plekhg2	G	A	7: 28,059,900 (GRCm39)	T1118I	possibly damaging	Het
Podxl	T	C	6: 31,501,355 (GRCm39)	E400G	probably damaging	Het
Prss54	C	A	8: 96,292,337 (GRCm39)	V81F	probably damaging	Het
Pzp	A	G	6: 128,464,420 (GRCm39)	L1369P	probably benign	Het
Rfx8	A	T	1: 39,735,128 (GRCm39)		probably benign	Het
Rgs6	C	T	12: 83,138,571 (GRCm39)	P302S	probably benign	Het
Rnf148	A	C	6: 23,654,456 (GRCm39)	I180S	probably damaging	Het
Slc33a1	C	T	3: 63,850,753 (GRCm39)	G524S	probably benign	Het
Slc5a7	A	G	17: 54,591,221 (GRCm39)	V237A	probably benign	Het
Spink7	T	C	18: 62,727,356 (GRCm39)	D56G	probably damaging	Het
Syn3	A	G	10: 86,303,063 (GRCm39)	S31P	probably damaging	Het
Tesl1	A	T	X: 23,773,710 (GRCm39)	T404S	probably benign	Het
Thrb	C	A	14: 18,008,606 (GRCm38)	P110Q	possibly damaging	Het
Vmn2r76	G	T	7: 85,877,879 (GRCm39)	T506K	probably benign	Het
Vps45	A	G	3: 95,938,354 (GRCm39)	L486P	probably benign	Het
Zan	G	A	5: 137,444,473 (GRCm39)	T1823M	unknown	Het
Zdhhc6	T	A	19: 55,302,959 (GRCm39)	Q14L	probably benign	Het
Zfp990	A	T	4: 145,263,533 (GRCm39)	N177I	possibly damaging	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
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
R5514:Sacm1l	UTSW	9	123,415,419 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16