Mutagenetix > Incidental Mutation

Incidental Mutation 'R8270:Serac1'

639471

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6050758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 457 (L457H)

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: L427H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: L427H

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: L457H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: L457H

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: 99.9%
20x: 99.6%

Validation Efficiency

98% (52/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,503,044	T3044I	probably damaging	Het
Apbb1ip	C	T	2: 22,874,992	P562S	unknown	Het
Arhgap44	A	G	11: 65,022,034	M477T	possibly damaging	Het
Arhgef12	T	C	9: 42,971,058	T1497A	probably benign	Het
Atp5h	T	C	11: 115,416,872	D91G	probably damaging	Het
Atp6v0a4	A	G	6: 38,074,229	F405L	probably damaging	Het
Bicc1	T	A	10: 70,932,108	T893S	probably damaging	Het
Cacna1i	T	A	15: 80,373,634	C1122S	probably damaging	Het
Capn7	A	G	14: 31,358,679	E369G	probably damaging	Het
Cass4	T	A	2: 172,427,669	L557Q	probably damaging	Het
Cdh5	A	G	8: 104,113,040	I48V	probably benign	Het
Crisp3	T	C	17: 40,235,922	K35R	probably benign	Het
Csde1	G	A	3: 103,038,755	A22T	possibly damaging	Het
Ctse	T	C	1: 131,668,139	Y190H	probably damaging	Het
Cyp2d34	T	A	15: 82,620,787	D24V	possibly damaging	Het
D630045J12Rik	A	T	6: 38,190,723	Y981*	probably null	Het
Dclre1a	G	A	19: 56,544,950	T404I	possibly damaging	Het
Dmc1	T	C	15: 79,601,545	D23G	probably damaging	Het
Dnah8	C	T	17: 30,840,713	T4429M	probably damaging	Het
Esf1	A	T	2: 140,155,113		probably benign	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Fn3k	A	T	11: 121,439,311	M107L	probably benign	Het
Fxyd5	A	G	7: 31,041,429	L10P	probably damaging	Het
Gm21958	G	A	3: 54,714,212		probably benign	Het
Gm4922	C	T	10: 18,784,012	D321N	probably benign	Het
Gm7714	T	C	5: 88,282,524	V93A	possibly damaging	Het
Gm884	T	C	11: 103,543,315	I3009M	unknown	Het
Gtf2h3	A	G	5: 124,595,987	*310W	probably null	Het
Hapln2	G	A	3: 88,023,544	T180I	possibly damaging	Het
Herc1	T	G	9: 66,487,950	V4189G	probably damaging	Het
Iqgap1	A	G	7: 80,730,127	V1166A	probably damaging	Het
Kcnk10	T	C	12: 98,435,099	N439S		Het
Klhl3	A	T	13: 58,113,154	M15K		Het
Klk1b26	A	T	7: 44,016,120	T151S	probably benign	Het
Krtap5-1	C	A	7: 142,296,462	C176F	unknown	Het
Krtap5-3	T	A	7: 142,201,956	C177S	unknown	Het
Map1a	T	C	2: 121,299,020	F180L	probably damaging	Het
Mfap5	T	C	6: 122,521,930		probably null	Het
Nckap1	T	A	2: 80,524,664	H638L	possibly damaging	Het
Olfr506	T	A	7: 108,612,943	I212N	probably benign	Het
Olfr910	T	G	9: 38,539,348	M151R	noncoding transcript	Het
Optc	C	T	1: 133,905,072	V97M	probably benign	Het
Piezo1	A	G	8: 122,501,559	Y330H		Het
Ppp1r12b	G	T	1: 134,876,148	N424K	probably benign	Het
Prdm5	T	A	6: 65,936,074	F580L	probably damaging	Het
Prr27	A	C	5: 87,846,312	K348N	possibly damaging	Het
Prr30	A	G	14: 101,198,386	Y247H	possibly damaging	Het
Rbks	A	T	5: 31,650,466		probably benign	Het
Sec24d	T	C	3: 123,305,886	V336A	possibly damaging	Het
Serpina1f	A	G	12: 103,693,498	I175T	probably damaging	Het
Sspo	A	T	6: 48,449,963	H242L	probably benign	Het
Tcaf2	A	T	6: 42,630,024	M332K	probably benign	Het
Tnrc6a	T	A	7: 123,170,071	N361K	possibly damaging	Het
Trim43b	G	T	9: 89,085,405	H393N	possibly damaging	Het
Ush2a	T	C	1: 188,444,641	L1334S	probably benign	Het
Usp35	T	C	7: 97,312,344	E625G	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
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
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'- ACGTCATAGTGTGGTAGTCTGC -3'
(R):5'- TACTACCTGCTGAAAGCCGC -3'

Sequencing Primer
(F):5'- GTCTCATACTGTGTATCTGCAATAC -3'
(R):5'- AGATTAAGTCTGACAGTGTTCTCACG -3'

Posted On

2020-07-28