Mutagenetix > Incidental Mutation

Incidental Mutation 'R5874:Serac1'

455420

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

MMRRC Submission

044081-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5874 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 6043913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024570] [ENSMUST00000061091] [ENSMUST00000097432] [ENSMUST00000115788] [ENSMUST00000115789] [ENSMUST00000115791] [ENSMUST00000134767]

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: ENSMUST00000061091

SMART Domains

Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	263	2.5e-72	PFAM
Blast:IPPc	394	423	3e-6	BLAST
IPPc	443	785	3.72e-128	SMART
DUF1866	778	923	1.04e-73	SMART
low complexity region	926	940	N/A	INTRINSIC
low complexity region	965	976	N/A	INTRINSIC
low complexity region	1012	1027	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097432

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115788

SMART Domains

Protein: ENSMUSP00000111454
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	108	4.8e-28	PFAM
Blast:IPPc	239	268	2e-6	BLAST
IPPc	288	630	3.72e-128	SMART
DUF1866	623	768	1.04e-73	SMART
low complexity region	771	785	N/A	INTRINSIC
low complexity region	810	821	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115789

SMART Domains

Protein: ENSMUSP00000111455
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	187	2.3e-60	PFAM
Blast:IPPc	318	347	2e-6	BLAST
IPPc	367	709	3.72e-128	SMART
DUF1866	702	847	1.04e-73	SMART
low complexity region	850	864	N/A	INTRINSIC
low complexity region	889	900	N/A	INTRINSIC
low complexity region	1006	1018	N/A	INTRINSIC
low complexity region	1056	1073	N/A	INTRINSIC
low complexity region	1102	1116	N/A	INTRINSIC
low complexity region	1132	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115791

SMART Domains

Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	61	343	8.5e-67	PFAM
Blast:IPPc	479	508	3e-6	BLAST
IPPc	528	870	3.72e-128	SMART
DUF1866	863	1008	1.04e-73	SMART
low complexity region	1011	1025	N/A	INTRINSIC
low complexity region	1050	1061	N/A	INTRINSIC
low complexity region	1097	1112	N/A	INTRINSIC
low complexity region	1212	1224	N/A	INTRINSIC
low complexity region	1262	1279	N/A	INTRINSIC
low complexity region	1308	1322	N/A	INTRINSIC
low complexity region	1338	1351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153325

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

98% (86/88)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	A	T	9: 51,290,372	L128*	probably null	Het
2410131K14Rik	T	C	5: 118,259,439	V162A	probably damaging	Het
4930432E11Rik	G	A	7: 29,581,185		noncoding transcript	Het
Adam17	T	C	12: 21,329,086	D654G	possibly damaging	Het
Ankhd1	A	T	18: 36,640,269	H1373L	possibly damaging	Het
Ankrd17	T	C	5: 90,268,797		probably benign	Het
Calu	A	G	6: 29,372,618	D112G	probably damaging	Het
Camk2a	G	C	18: 60,943,200		probably benign	Het
Ccdc130	T	A	8: 84,258,548	D364V	possibly damaging	Het
Cpn1	C	A	19: 43,956,512	R452L	probably benign	Het
Csmd3	T	A	15: 47,644,270	E2780V	probably damaging	Het
Ctnna2	T	C	6: 76,902,430	T824A	probably benign	Het
Cuedc2	C	T	19: 46,331,385	V164M	possibly damaging	Het
Cyp2d34	T	A	15: 82,619,042	D74V	probably benign	Het
Ddi2	A	G	4: 141,695,469	S311P	probably damaging	Het
Ddx10	A	C	9: 53,229,198	I301R	possibly damaging	Het
Dmpk	T	C	7: 19,092,082		probably benign	Het
Dnah7b	C	T	1: 46,191,725	T1381I	probably damaging	Het
Dst	T	A	1: 34,179,589	N1703K	probably damaging	Het
Dtwd1	T	A	2: 126,158,439	H98Q	probably damaging	Het
Ecel1	A	C	1: 87,148,009	V769G	probably benign	Het
Eno4	T	C	19: 58,946,806	V150A	probably benign	Het
Evc2	C	T	5: 37,417,539		probably benign	Het
Ext1	T	A	15: 53,101,752	Q406L	possibly damaging	Het
Fam104a	T	A	11: 113,677,394	R78S	probably damaging	Het
Fam35a	T	C	14: 34,245,258	T114A	probably benign	Het
Foxf2	A	G	13: 31,626,792	H238R	probably benign	Het
Frem2	C	G	3: 53,537,489	G2407A	probably benign	Het
Fzd10	A	G	5: 128,601,300	E28G	probably benign	Het
Galnt15	T	C	14: 32,052,367	F363L	probably damaging	Het
Gm1758	C	T	16: 14,507,173		noncoding transcript	Het
Gm5866	C	T	5: 52,582,614		noncoding transcript	Het
Gm6614	A	T	6: 141,972,235	H638Q	probably benign	Het
Heatr9	T	A	11: 83,514,600	M345L	probably benign	Het
Il23r	A	T	6: 67,431,645	F404Y	possibly damaging	Het
Lrrc8a	T	C	2: 30,257,136	I654T	probably damaging	Het
Napg	A	T	18: 62,978,020	K18*	probably null	Het
Ndst3	A	T	3: 123,561,907	W573R	probably damaging	Het
Nin	T	C	12: 70,030,918	S1038G	possibly damaging	Het
Nudt12	T	A	17: 59,010,284	R123*	probably null	Het
Oas1g	T	A	5: 120,877,018	N361Y	probably benign	Het
Olfr1100	A	T	2: 86,978,442	M118K	probably damaging	Het
Olfr1351	T	A	10: 79,017,357	F12I	possibly damaging	Het
Olfr470	T	A	7: 107,845,170	I188L	probably benign	Het
Osbpl10	T	C	9: 115,226,760	F667L	probably damaging	Het
Phldb2	T	C	16: 45,801,625	D664G	probably damaging	Het
Piezo2	C	T	18: 63,027,901	V2263M	probably damaging	Het
Pkd1l1	A	G	11: 8,908,688	L615P	probably damaging	Het
Pnpla7	G	A	2: 25,011,649	M562I	probably benign	Het
Ppp1r13b	C	A	12: 111,844,989	R155L	probably damaging	Het
Pygb	C	T	2: 150,786,878	P4L	probably benign	Het
Rbm44	T	C	1: 91,156,840		probably null	Het
Rilpl2	T	C	5: 124,469,813	T115A	probably benign	Het
Rin3	A	G	12: 102,389,843	Y801C	probably damaging	Het
Rnf112	A	G	11: 61,449,447	V619A	probably damaging	Het
Rnf182	A	G	13: 43,668,087	E38G	probably benign	Het
Scgb2b24	T	A	7: 33,737,405	Y94F	probably damaging	Het
Slc6a19	A	T	13: 73,684,368	V402D	probably damaging	Het
Slco2b1	T	A	7: 99,667,094	M410L	probably benign	Het
Smarca2	T	C	19: 26,776,069		probably benign	Het
Sned1	A	G	1: 93,265,345	Y409C	probably damaging	Het
Sorcs2	A	G	5: 36,229,211	V161A	probably damaging	Het
Sptb	T	C	12: 76,598,727	E2029G	possibly damaging	Het
Stx7	T	A	10: 24,182,761		probably null	Het
Taf4b	T	C	18: 14,804,554	V228A	probably benign	Het
Tbc1d1	A	G	5: 64,349,930	*1163W	probably null	Het
Tor4a	G	A	2: 25,194,835	A352V	probably damaging	Het
Trpm4	A	G	7: 45,327,749	F81S	probably damaging	Het
Ttn	T	A	2: 76,950,092	D1105V	probably damaging	Het
Zfp551	A	G	7: 12,416,174	L436P	probably damaging	Het
Zfp975	G	T	7: 42,662,888	D100E	probably benign	Het
Zswim3	A	G	2: 164,820,112	I171V	probably benign	Het
Zwint	C	T	10: 72,656,462		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
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
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'- AGTGTCAACTGTGCACCTGG -3'
(R):5'- TATAGTGCGAGAAACGTGGCATTC -3'

Sequencing Primer
(F):5'- CTGGCAGTAAAACATCATGGC -3'
(R):5'- GAGAAACGTGGCATTCTCCATCTG -3'

Posted On

2017-02-10