Mutagenetix > Incidental Mutation

Incidental Mutation 'R9057:Serac1'

688775

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6061615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 262 (S262I)

Ref Sequence

ENSEMBL: ENSMUSP00000095043 (fasta)

Gene Model

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

AlphaFold

Q3U213

Predicted Effect

probably damaging
Transcript: ENSMUST00000024570
AA Change: S232I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: S232I

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 damaging
Transcript: ENSMUST00000097432
AA Change: S262I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: S262I

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,617,500		probably benign	Het
Abca2	G	A	2: 25,441,572	D1324N	probably benign	Het
Acat1	C	T	9: 53,592,000	G180R	probably damaging	Het
AI837181	A	C	19: 5,426,702	T298P	probably damaging	Het
Alms1	T	A	6: 85,609,832	D556E	unknown	Het
Ankle1	T	A	8: 71,406,317	W65R	probably benign	Het
Ano5	A	G	7: 51,553,906	N234S	probably benign	Het
Asb7	T	A	7: 66,659,647		probably benign	Het
Atad2b	T	A	12: 5,018,102	C1033*	probably null	Het
B4galnt1	A	G	10: 127,171,130	D452G	probably damaging	Het
B4gat1	G	T	19: 5,039,028	A18S	possibly damaging	Het
Bard1	A	G	1: 71,030,648	Y724H	probably damaging	Het
BC037034	A	T	5: 138,262,687	V232E	probably damaging	Het
Bcl9	A	T	3: 97,204,990	M1383K	possibly damaging	Het
Cenpt	C	A	8: 105,849,773	*43L	probably null	Het
Ces2f	C	A	8: 104,948,112	H49N	probably benign	Het
Col17a1	A	T	19: 47,649,083	D1245E	probably damaging	Het
Col19a1	G	T	1: 24,510,881	H312N	unknown	Het
Cyb5d2	C	T	11: 72,789,098	E124K	probably benign	Het
Dnah5	C	T	15: 28,390,868	A3291V	probably damaging	Het
Exo5	A	T	4: 120,921,989	D226E	probably damaging	Het
Ggt6	C	T	11: 72,437,241	T189M	probably damaging	Het
Gm156	T	A	6: 129,775,840	M1L	probably benign	Het
Gm5592	C	A	7: 41,289,463	S723Y	possibly damaging	Het
Golga3	C	T	5: 110,184,599	T133M	probably damaging	Het
Heatr5a	C	T	12: 51,939,637	E598K	probably damaging	Het
Hfe	T	A	13: 23,705,675	I330F	possibly damaging	Het
Htt	A	G	5: 34,852,110	I1478M	possibly damaging	Het
Igf1r	T	C	7: 68,183,438	F449L	probably damaging	Het
Ints4	T	C	7: 97,509,780	V453A	possibly damaging	Het
Ints6	A	G	14: 62,714,291		probably null	Het
Kpna4	G	A	3: 69,094,685	T248M	probably damaging	Het
Lactb	T	C	9: 66,967,695	I372V	possibly damaging	Het
Mib1	T	A	18: 10,795,728	D696E	possibly damaging	Het
Mpzl3	G	A	9: 45,068,294	R181Q	probably damaging	Het
Mup12	A	T	4: 60,740,780	I33N	probably damaging	Het
Myh10	A	G	11: 68,765,185	I502V	possibly damaging	Het
Nacad	C	A	11: 6,600,876	V772F	possibly damaging	Het
Nbeal2	G	T	9: 110,627,150	T2417N	probably benign	Het
Nif3l1	A	G	1: 58,450,489	D179G	probably benign	Het
Olfr49	T	C	14: 54,282,691	E68G	probably damaging	Het
Olfr699	A	T	7: 106,790,089	V304D	probably damaging	Het
Pan2	A	T	10: 128,320,272	H1133L	probably damaging	Het
Pgk2	A	G	17: 40,207,844	V231A	possibly damaging	Het
Psmd12	G	A	11: 107,486,502	R129Q	probably null	Het
Rpl23a	G	A	11: 78,181,195	R139C	probably benign	Het
Sars2	G	T	7: 28,746,821	Q158H		Het
Scd3	C	T	19: 44,235,901	P191L	probably damaging	Het
Sh3bp1	A	G	15: 78,910,009	T526A	probably benign	Het
Slc26a3	A	T	12: 31,470,959	T721S	probably benign	Het
Slc8a1	A	C	17: 81,648,050	S520A	probably benign	Het
Sp9	A	T	2: 73,273,269	S56C	probably damaging	Het
Spire2	T	A	8: 123,368,808		probably benign	Het
Syne2	T	G	12: 75,890,393	L255R	probably damaging	Het
Tcp11l1	A	G	2: 104,697,681	I156T	probably damaging	Het
Tnrc6b	G	A	15: 80,879,148	A284T	probably benign	Het
Tsc1	T	A	2: 28,685,862	L919H	probably damaging	Het
Vps13c	T	A	9: 67,920,927	H1454Q	probably benign	Het
Vps41	T	A	13: 18,843,532	D537E	probably benign	Het
Wnt16	T	A	6: 22,288,824	C47S	probably damaging	Het
Zfhx2	C	T	14: 55,072,570	E840K	possibly damaging	Het
Zfp61	A	T	7: 24,291,277	V483E	probably benign	Het
Zfp870	A	T	17: 32,883,819	S179T	probably benign	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
R9657:Serac1	UTSW	17	6069383	missense	probably benign	0.04
Z1088:Serac1	UTSW	17	6048918	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCATGAACTCCTTGTATGTG -3'
(R):5'- CAGACTTGTTTTGGGAATCACTTG -3'

Sequencing Primer
(F):5'- AGTTACAGGGAATCCAGTGTCCTC -3'
(R):5'- GGAATCACTTGGTGTCTTTTCTATTC -3'

Posted On

2021-11-19