Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Sacm1l'

377501

Institutional Source

Beutler Lab

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 #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123529759-123592600 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123582344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 399 (I399M)

Ref Sequence

ENSEMBL: ENSMUSP00000026270 (fasta)

Gene Model

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

AlphaFold

Q9EP69

Predicted Effect

probably benign
Transcript: ENSMUST00000026270
AA Change: I399M

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: I399M

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

noncoding transcript
Transcript: ENSMUST00000215004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217089

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,299,084 (GRCm38)	Y176*	probably null	Het
Akap13	T	A	7: 75,725,320 (GRCm38)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,635,332 (GRCm38)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,758,116 (GRCm38)		probably null	Het
Cacna1e	G	T	1: 154,488,805 (GRCm38)	S341*	probably null	Het
Camk1d	G	A	2: 5,354,728 (GRCm38)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,337,851 (GRCm38)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm38)	I1276N	probably damaging	Het
Clca1	A	G	3: 145,013,901 (GRCm38)	V436A	probably damaging	Het
Ctcfl	G	A	2: 173,117,403 (GRCm38)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,730,527 (GRCm38)		probably benign	Het
Dnah8	G	A	17: 30,748,568 (GRCm38)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm38)	S495R	probably benign	Het
Espl1	A	G	15: 102,322,323 (GRCm38)		probably null	Het
Eya4	T	C	10: 23,109,854 (GRCm38)	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,588,549 (GRCm38)	T554R	probably benign	Het
Fbxo18	A	T	2: 11,762,960 (GRCm38)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,618,902 (GRCm38)	C1023R	probably damaging	Het
Gm14139	T	A	2: 150,191,979 (GRCm38)	C104*	probably null	Het
Helz2	G	C	2: 181,236,147 (GRCm38)	P953A	probably benign	Het
Ifi204	G	T	1: 173,760,242 (GRCm38)	S117Y	probably damaging	Het
Igfn1	G	A	1: 135,954,782 (GRCm38)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,498,067 (GRCm38)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,903,441 (GRCm38)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,904,490 (GRCm38)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 122,940,967 (GRCm38)	E308*	probably null	Het
Klhl20	A	T	1: 161,109,532 (GRCm38)	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,053,188 (GRCm38)	F64L	probably benign	Het
Ldlrad3	C	T	2: 102,057,948 (GRCm38)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,912,531 (GRCm38)	T161A	probably benign	Het
Lrriq1	A	T	10: 103,161,752 (GRCm38)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,325,402 (GRCm38)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,541,118 (GRCm38)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm38)	S651A	probably damaging	Het
Olfr1214	T	C	2: 88,987,439 (GRCm38)	I254M	possibly damaging	Het
Olfr1337	A	T	4: 118,782,286 (GRCm38)	C100S	probably damaging	Het
Olfr1361	T	C	13: 21,659,182 (GRCm38)	N47S	probably damaging	Het
Rag2	T	C	2: 101,629,677 (GRCm38)	S111P	probably damaging	Het
Rai1	T	A	11: 60,186,746 (GRCm38)	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,143,103 (GRCm38)	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,192,804 (GRCm38)	S205L	probably damaging	Het
Rec8	T	C	14: 55,625,330 (GRCm38)	L582P	probably damaging	Het
Retn	G	A	8: 3,657,358 (GRCm38)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,452,662 (GRCm38)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,481,240 (GRCm38)	Y4885H	probably damaging	Het
Sez6	G	T	11: 77,975,260 (GRCm38)	G738V	probably damaging	Het
Spata17	A	G	1: 187,140,446 (GRCm38)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,701,728 (GRCm38)	V862D	probably damaging	Het
Sptb	A	G	12: 76,624,994 (GRCm38)		probably null	Het
Srpk2	C	A	5: 23,545,529 (GRCm38)	G59W	probably damaging	Het
Ttc30a1	T	C	2: 75,979,744 (GRCm38)	*665W	probably null	Het
Tyro3	T	C	2: 119,802,298 (GRCm38)	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,610,360 (GRCm38)	S108P	probably damaging	Het
Usp2	C	T	9: 44,075,828 (GRCm38)	S141L	probably benign	Het
Vamp5	T	C	6: 72,370,198 (GRCm38)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,926,325 (GRCm38)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,547,408 (GRCm38)	S490N	probably benign	Het
Vps39	A	T	2: 120,352,959 (GRCm38)	I10N	probably damaging	Het
Vwf	C	T	6: 125,645,934 (GRCm38)	Q1755*	probably null	Het
Wdfy4	A	T	14: 33,155,760 (GRCm38)	H82Q	probably benign	Het
Wdr24	T	C	17: 25,826,127 (GRCm38)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,210,561 (GRCm38)	T852A	probably benign	Het
Zfp1	T	A	8: 111,669,723 (GRCm38)	C92*	probably null	Het
Zfp426	A	T	9: 20,475,073 (GRCm38)		probably benign	Het
Zfp442	C	T	2: 150,411,210 (GRCm38)		probably null	Het
Zfp74	T	C	7: 29,936,045 (GRCm38)		probably benign	Het

Other mutations in Sacm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Sacm1l	APN	9	123,570,549 (GRCm38)	missense	possibly damaging	0.88
IGL02598:Sacm1l	APN	9	123,578,996 (GRCm38)	missense	probably benign	0.03
IGL02796:Sacm1l	UTSW	9	123,548,924 (GRCm38)	missense	possibly damaging	0.66
R0138:Sacm1l	UTSW	9	123,548,917 (GRCm38)	missense	probably benign	0.15
R0628:Sacm1l	UTSW	9	123,548,995 (GRCm38)	splice site	probably benign
R0847:Sacm1l	UTSW	9	123,548,862 (GRCm38)	missense	probably damaging	1.00
R1102:Sacm1l	UTSW	9	123,582,298 (GRCm38)	missense	probably damaging	0.98
R1159:Sacm1l	UTSW	9	123,566,411 (GRCm38)	missense	probably benign	0.06
R2898:Sacm1l	UTSW	9	123,560,601 (GRCm38)	critical splice donor site	probably null
R3001:Sacm1l	UTSW	9	123,585,084 (GRCm38)	splice site	probably benign
R3780:Sacm1l	UTSW	9	123,552,790 (GRCm38)	missense	probably benign	0.00
R3852:Sacm1l	UTSW	9	123,587,576 (GRCm38)	missense	probably damaging	1.00
R4731:Sacm1l	UTSW	9	123,590,830 (GRCm38)	missense	probably benign	0.03
R4732:Sacm1l	UTSW	9	123,590,830 (GRCm38)	missense	probably benign	0.03
R4733:Sacm1l	UTSW	9	123,590,830 (GRCm38)	missense	probably benign	0.03
R5021:Sacm1l	UTSW	9	123,582,328 (GRCm38)	missense	probably damaging	1.00
R5033:Sacm1l	UTSW	9	123,586,399 (GRCm38)	missense	probably damaging	1.00
R5075:Sacm1l	UTSW	9	123,582,262 (GRCm38)	missense	probably benign	0.00
R5135:Sacm1l	UTSW	9	123,577,025 (GRCm38)	missense	probably benign	0.00
R5284:Sacm1l	UTSW	9	123,586,420 (GRCm38)	missense	probably damaging	0.99
R5514:Sacm1l	UTSW	9	123,586,354 (GRCm38)	nonsense	probably null
R5629:Sacm1l	UTSW	9	123,566,399 (GRCm38)	missense	probably benign
R6137:Sacm1l	UTSW	9	123,569,005 (GRCm38)	missense	probably damaging	1.00
R6266:Sacm1l	UTSW	9	123,542,420 (GRCm38)	missense	probably damaging	1.00
R7079:Sacm1l	UTSW	9	123,569,997 (GRCm38)	missense	probably damaging	1.00
R7147:Sacm1l	UTSW	9	123,568,951 (GRCm38)	missense	probably damaging	1.00
R8205:Sacm1l	UTSW	9	123,586,659 (GRCm38)	splice site	probably null
R8323:Sacm1l	UTSW	9	123,548,922 (GRCm38)	missense	probably benign	0.22
R8544:Sacm1l	UTSW	9	123,577,058 (GRCm38)	critical splice donor site	probably null
R8801:Sacm1l	UTSW	9	123,582,319 (GRCm38)	missense	probably damaging	1.00
R9131:Sacm1l	UTSW	9	123,552,762 (GRCm38)	nonsense	probably null
R9165:Sacm1l	UTSW	9	123,568,956 (GRCm38)	missense	probably damaging	1.00
R9732:Sacm1l	UTSW	9	123,552,798 (GRCm38)	missense	probably benign	0.00
Z1177:Sacm1l	UTSW	9	123,577,028 (GRCm38)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GACCTGTGTACTAGGAGCAGTG -3'
(R):5'- GCAGTGAAAACTACAAATGTGC -3'

Sequencing Primer
(F):5'- ACTAGGAGCAGTGTCATTGATG -3'
(R):5'- TTGTACACCAATGGCAAGGTAC -3'

Posted On

2016-03-17