Mutagenetix > Incidental Mutation

Incidental Mutation 'R6266:Sacm1l'

507018

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

044378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123358824-123421665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123371485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 37 (S37P)

Ref Sequence

ENSEMBL: ENSMUSP00000026270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026270] [ENSMUST00000217045]

AlphaFold

Q9EP69

Predicted Effect

probably damaging
Transcript: ENSMUST00000026270
AA Change: S37P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: S37P

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: ENSMUST00000217045

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,320,206 (GRCm39)	T295A	probably benign	Het
Aldh2	C	A	5: 121,706,997 (GRCm39)	V217L	probably damaging	Het
Arap3	G	A	18: 38,123,844 (GRCm39)	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,977 (GRCm39)	L75R	probably damaging	Het
Blm	C	A	7: 80,149,688 (GRCm39)	K640N	probably benign	Het
Brap	A	T	5: 121,823,328 (GRCm39)	T487S	probably benign	Het
Ccser2	G	A	14: 36,601,632 (GRCm39)	P276L	probably damaging	Het
Cdc42bpg	A	G	19: 6,361,503 (GRCm39)	E343G	probably damaging	Het
Cecr2	A	G	6: 120,738,647 (GRCm39)	S1097G	probably benign	Het
D7Ertd443e	A	T	7: 133,951,514 (GRCm39)	V53D	probably damaging	Het
Ddx3y	G	A	Y: 1,266,635 (GRCm39)	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,773 (GRCm39)	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,841,952 (GRCm39)	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,350,442 (GRCm39)	S406P	probably damaging	Het
Efcab8	T	C	2: 153,625,688 (GRCm39)	L116P	probably damaging	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fbxl12	A	T	9: 20,549,911 (GRCm39)	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,426,683 (GRCm39)	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,287,864 (GRCm39)	S1219P	probably benign	Het
Gm7298	A	T	6: 121,759,663 (GRCm39)	R1187S	probably damaging	Het
H6pd	T	C	4: 150,080,414 (GRCm39)	I136V	probably benign	Het
Hyal2	A	G	9: 107,447,914 (GRCm39)	N189S	probably benign	Het
Jmjd1c	C	T	10: 67,085,439 (GRCm39)	P2410S	probably damaging	Het
Larp1	A	G	11: 57,933,089 (GRCm39)	D231G	probably damaging	Het
Lilra5	T	A	7: 4,244,927 (GRCm39)	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,641,340 (GRCm39)	F508S	probably damaging	Het
Marchf4	T	C	1: 72,491,647 (GRCm39)	Y208C	probably damaging	Het
Mtarc2	T	C	1: 184,566,140 (GRCm39)	R85G	probably damaging	Het
Nr1h2	A	T	7: 44,201,476 (GRCm39)	C45*	probably null	Het
Or10ag2	T	A	2: 87,249,350 (GRCm39)	S319R	probably benign	Het
Or2n1e	A	G	17: 38,586,039 (GRCm39)	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,996,629 (GRCm39)		probably null	Het
Prpf40a	A	T	2: 53,046,639 (GRCm39)	S324T	probably benign	Het
Psmb7	T	C	2: 38,530,199 (GRCm39)	D94G	probably damaging	Het
Psmd11	A	G	11: 80,336,767 (GRCm39)	T140A	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rbp3	G	A	14: 33,676,418 (GRCm39)	R122H	probably benign	Het
Relch	T	G	1: 105,659,007 (GRCm39)		probably null	Het
Rrp8	T	C	7: 105,385,596 (GRCm39)	E3G	probably damaging	Het
Slc12a3	A	G	8: 95,085,099 (GRCm39)	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,051,814 (GRCm39)	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,624,953 (GRCm39)	Q281R	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,126 (GRCm39)	V147I	probably benign	Het
Tefm	A	G	11: 80,028,814 (GRCm39)	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,738,547 (GRCm39)	V145E	probably damaging	Het
Tmem231	T	A	8: 112,641,897 (GRCm39)	E219V	probably null	Het
Tmx3	T	A	18: 90,555,334 (GRCm39)		probably null	Het
Tns3	G	A	11: 8,442,987 (GRCm39)	P459S	probably damaging	Het
Trav13d-1	T	A	14: 53,089,220 (GRCm39)	S76R	probably benign	Het
Trp63	A	G	16: 25,681,210 (GRCm39)	N254S	probably damaging	Het
Tsen34	A	G	7: 3,696,984 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,959,064 (GRCm39)	V701A	probably damaging	Het
Usp36	A	G	11: 118,159,411 (GRCm39)	S513P	probably damaging	Het
Uspl1	T	A	5: 149,141,176 (GRCm39)	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,899,007 (GRCm39)	C450S	probably benign	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zkscan7	C	T	9: 122,724,299 (GRCm39)	Q423*	probably null	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
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
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'- GCTGAACTGTATCCCTAGCC -3'
(R):5'- CACGCTCATTCAAGTGTTAGCTC -3'

Sequencing Primer
(F):5'- AGGCTAATGAACTTAGTAGTACCATC -3'
(R):5'- TCTAGGACAGCCTGGACTATATAGC -3'

Posted On

2018-03-15