Mutagenetix > Incidental Mutation

Incidental Mutation 'R9657:Serac1'

727416

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9657 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6069383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 91 (V91I)

Ref Sequence

ENSEMBL: ENSMUSP00000095043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024570] [ENSMUST00000097432]

AlphaFold

Q3U213

Predicted Effect

probably benign
Transcript: ENSMUST00000024570

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
low complexity region	161	169	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
SCOP:d1jdha_	243	336	3e-5	SMART
Pfam:PGAP1	360	519	3.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097432
AA Change: V91I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: V91I

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
SCOP:d1gw5a_	89	464	3e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,293,379	D1747E	probably benign	Het
Acad11	T	A	9: 104,075,836	I88N	possibly damaging	Het
Atp2b4	T	C	1: 133,728,740	E724G	probably damaging	Het
Bcl2a1b	T	C	9: 89,199,546	S63P	probably damaging	Het
Blzf1	T	C	1: 164,306,454	S9G	probably benign	Het
Ccdc121	T	C	1: 181,510,539	T283A	probably benign	Het
Ccdc130	T	C	8: 84,260,455	K138E	possibly damaging	Het
Cdh22	T	C	2: 165,123,795	D488G	probably benign	Het
Cep290	A	G	10: 100,515,141	E688G	possibly damaging	Het
Cldn10	A	C	14: 118,788,369	E71D	probably benign	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Cyp3a16	T	C	5: 145,450,169	D337G	probably null	Het
D430042O09Rik	A	G	7: 125,842,784	S648G	probably benign	Het
Dnah5	A	T	15: 28,409,943	D3654V	probably damaging	Het
Dock1	T	C	7: 134,737,700	S100P	possibly damaging	Het
Gm35339	A	G	15: 76,361,276	Y1271C		Het
Hdgfl2	T	C	17: 56,098,978	V488A	unknown	Het
Itih2	T	C	2: 10,102,875	T627A	probably damaging	Het
Klhl33	T	C	14: 50,896,660	D144G	probably benign	Het
Lca5l	G	A	16: 96,173,753	Q324*	probably null	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mical2	A	G	7: 112,322,599	T542A	probably benign	Het
Moxd1	T	A	10: 24,252,587	V179E	probably benign	Het
Myh7b	A	G	2: 155,614,043	Y116C	probably damaging	Het
Myoc	C	T	1: 162,639,660	R133*	probably null	Het
Nol3	A	T	8: 105,279,009	I12F	probably damaging	Het
Nrap	A	G	19: 56,363,945	V605A	probably benign	Het
Olfr1136	T	C	2: 87,693,777	Y35C	probably damaging	Het
Olfr1158	A	C	2: 87,990,966	N285T	probably damaging	Het
Pag1	G	T	3: 9,704,731	S52R	probably damaging	Het
Pbxip1	A	G	3: 89,447,749	D525G	probably benign	Het
Pla2g4f	A	G	2: 120,304,657	F437L	probably benign	Het
Podn	A	C	4: 108,027,034	I86S	probably damaging	Het
Postn	A	G	3: 54,383,399	T676A	probably benign	Het
Ppp1r1c	A	G	2: 79,808,374	E104G	probably benign	Het
Prss53	T	C	7: 127,887,066	T436A	probably damaging	Het
Psme4	A	T	11: 30,838,980	E1127D	probably benign	Het
Ptpn18	C	A	1: 34,473,392	A426E	possibly damaging	Het
Ptprz1	T	G	6: 23,042,378	C2044G	possibly damaging	Het
Rad54l2	C	A	9: 106,704,173	V850L	probably damaging	Het
Ranbp9	A	G	13: 43,403,679	I28T	unknown	Het
Rapgef2	A	T	3: 79,091,884	V527E	probably damaging	Het
Rere	C	A	4: 150,614,933	P825T	unknown	Het
Rundc3a	A	G	11: 102,400,752	T349A	probably benign	Het
Scn2a	T	C	2: 65,735,688	F1352S	probably damaging	Het
Senp7	T	A	16: 56,123,932	C206*	probably null	Het
Serpina1f	G	A	12: 103,689,791	Q393*	probably null	Het
Slc8a1	T	C	17: 81,647,815	E598G	probably damaging	Het
Slmap	A	T	14: 26,429,858	H518Q	probably benign	Het
Spg11	G	A	2: 122,080,300	R1199C	probably damaging	Het
Tada1	T	C	1: 166,386,743	S104P	possibly damaging	Het
Tbck	A	G	3: 132,715,690	D186G	probably damaging	Het
Tdrd9	A	C	12: 112,036,390	R824S	possibly damaging	Het
Tmem161a	T	C	8: 70,177,610		probably null	Het
Trim55	G	A	3: 19,674,507	G494D	possibly damaging	Het
Ttc17	T	A	2: 94,406,665	M1L	probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Ugt3a1	A	C	15: 9,280,047	S32R	probably damaging	Het
Vgll3	T	C	16: 65,839,457	S220P	probably benign	Het
Virma	A	G	4: 11,544,898	E1569G	probably damaging	Het
Vmn1r54	C	G	6: 90,270,002	F299L	probably benign	Het
Vmn2r114	A	G	17: 23,291,716	S597P	probably damaging	Het
Wdr7	A	G	18: 63,924,847	D1249G	probably damaging	Het
Ypel4	A	G	2: 84,737,724	Y108C	probably damaging	Het
Zfp770	A	G	2: 114,197,285	V101A	probably damaging	Het
Zfyve9	A	T	4: 108,718,532	C451S	probably damaging	Het

Other mutations in Serac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Serac1	APN	17	6074253	splice site	probably benign
IGL02642:Serac1	APN	17	6045746	missense	possibly damaging	0.56
IGL02972:Serac1	APN	17	6070764	nonsense	probably null
FR4304:Serac1	UTSW	17	6070808	missense	probably damaging	1.00
FR4340:Serac1	UTSW	17	6070808	missense	probably damaging	1.00
FR4342:Serac1	UTSW	17	6070808	missense	probably damaging	1.00
FR4589:Serac1	UTSW	17	6070808	missense	probably damaging	1.00
PIT4480001:Serac1	UTSW	17	6050812	missense	probably damaging	1.00
R0076:Serac1	UTSW	17	6064937	splice site	probably benign
R0076:Serac1	UTSW	17	6064937	splice site	probably benign
R0127:Serac1	UTSW	17	6048840	missense	probably damaging	1.00
R0211:Serac1	UTSW	17	6050060	missense	possibly damaging	0.67
R0245:Serac1	UTSW	17	6051756	missense	probably damaging	1.00
R0538:Serac1	UTSW	17	6048826	splice site	probably benign
R0652:Serac1	UTSW	17	6051756	missense	probably damaging	1.00
R0988:Serac1	UTSW	17	6061580	missense	probably benign	0.02
R1965:Serac1	UTSW	17	6048999	missense	possibly damaging	0.72
R1984:Serac1	UTSW	17	6045689	splice site	probably null
R2145:Serac1	UTSW	17	6050785	missense	probably damaging	1.00
R3426:Serac1	UTSW	17	6066778	missense	probably benign	0.04
R3921:Serac1	UTSW	17	6066792	missense	probably damaging	1.00
R4760:Serac1	UTSW	17	6051790	missense	possibly damaging	0.69
R4958:Serac1	UTSW	17	6069382	missense	probably benign	0.15
R5552:Serac1	UTSW	17	6056692	nonsense	probably null
R5874:Serac1	UTSW	17	6043913	unclassified	probably benign
R5964:Serac1	UTSW	17	6065049	missense	probably benign
R6614:Serac1	UTSW	17	6045662	missense	probably damaging	1.00
R6794:Serac1	UTSW	17	6051710	missense	probably damaging	1.00
R6949:Serac1	UTSW	17	6051815	missense	probably damaging	1.00
R7157:Serac1	UTSW	17	6074201	missense	probably benign
R7161:Serac1	UTSW	17	6065076	missense	probably damaging	0.97
R7426:Serac1	UTSW	17	6069314	missense	probably damaging	1.00
R8270:Serac1	UTSW	17	6050758	missense	probably damaging	1.00
R8733:Serac1	UTSW	17	6050028	missense	probably damaging	1.00
R8785:Serac1	UTSW	17	6044202	missense	probably damaging	0.99
R9057:Serac1	UTSW	17	6061615	missense	probably damaging	0.98
Z1088:Serac1	UTSW	17	6048918	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGTTCTTCTGCCAGCTTC -3'
(R):5'- CACAGTGGAAATGTGTTGCC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GGAAATGTGTTGCCACTTACAGC -3'

Posted On

2022-10-06