Mutagenetix > Incidental Mutation

Incidental Mutation 'R1984:Serac1'

220380

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

MMRRC Submission

039996-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1984 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

splice site (1399 bp from exon)

DNA Base Change (assembly)

A to G at 6045689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060382 (fasta)

Gene Model

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

AlphaFold

Q3U213

Predicted Effect

probably damaging
Transcript: ENSMUST00000024570
AA Change: I565T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: I565T

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 null
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

possibly damaging
Transcript: ENSMUST00000097432
AA Change: I595T

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: I595T

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: ENSMUST00000144284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153325

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,819	L81H	probably damaging	Het
Abca8b	A	G	11: 109,977,841	C166R	probably damaging	Het
Adgrv1	T	A	13: 81,523,749	E2242D	probably damaging	Het
Agap1	T	C	1: 89,766,323	S448P	probably benign	Het
AI464131	C	A	4: 41,497,501	A710S	possibly damaging	Het
Aldh1a2	T	C	9: 71,253,052	L120P	probably damaging	Het
Alkbh2	T	C	5: 114,124,054	N205S	probably benign	Het
Anapc1	C	A	2: 128,669,688	G493C	possibly damaging	Het
Aox3	A	T	1: 58,153,061	I497F	possibly damaging	Het
Atp2b1	T	C	10: 99,014,492	S826P	possibly damaging	Het
Atp8b4	T	A	2: 126,323,008	R1129S	probably damaging	Het
Bche	T	A	3: 73,701,826	Q89L	probably benign	Het
Bche	G	T	3: 73,701,827	Q89K	probably benign	Het
Bcl9	T	C	3: 97,213,734	K171E	probably damaging	Het
Cacna1b	A	T	2: 24,648,986	Y1488N	probably damaging	Het
Dock8	A	G	19: 25,121,181	N623S	probably null	Het
Dok6	T	C	18: 89,560,110	E61G	probably damaging	Het
Esf1	A	T	2: 140,148,886	D559E	possibly damaging	Het
F11r	A	G	1: 171,461,870	I254V	probably benign	Het
Fkrp	A	G	7: 16,811,877	V20A	probably benign	Het
Fscb	T	C	12: 64,474,683	E3G	unknown	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm4981	T	A	10: 58,235,963	Q143L	possibly damaging	Het
Hdlbp	A	G	1: 93,431,118	I237T	probably damaging	Het
Hfm1	A	T	5: 106,898,576	D481E	probably damaging	Het
Hspa4l	T	C	3: 40,760,401	V156A	probably damaging	Het
Igfn1	A	G	1: 135,962,044	S2422P	probably benign	Het
Il23r	T	A	6: 67,490,668		probably null	Het
Il24	G	A	1: 130,882,531	T196I	probably benign	Het
Isg15	T	C	4: 156,199,793	I93V	probably benign	Het
Kcna6	T	C	6: 126,738,510	E472G	probably benign	Het
Kif21b	G	A	1: 136,147,546	D166N	probably damaging	Het
Lilr4b	A	T	10: 51,481,735	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669	E225G	possibly damaging	Het
March6	A	T	15: 31,469,646	L726Q	probably damaging	Het
Megf6	G	T	4: 154,267,667	G1210C	probably damaging	Het
Msh2	C	T	17: 87,719,296	T740I	probably damaging	Het
Myh14	T	C	7: 44,639,022	Y514C	probably damaging	Het
Nedd1	T	C	10: 92,714,160	T88A	possibly damaging	Het
Nfkb1	G	A	3: 135,615,349	T215I	possibly damaging	Het
Obox1	A	T	7: 15,555,210	I17L	probably benign	Het
Olfr739	A	T	14: 50,425,391	I291L	possibly damaging	Het
Palb2	A	C	7: 122,127,080	H522Q	probably damaging	Het
Pde4c	C	T	8: 70,724,542	T6M	probably damaging	Het
Plekhg1	A	G	10: 3,958,181	K97E	probably damaging	Het
Plod3	A	G	5: 136,990,853		probably null	Het
Plppr3	A	T	10: 79,867,460	Y63*	probably null	Het
Qrich1	T	C	9: 108,534,047	V257A	probably damaging	Het
Rpl14	A	G	9: 120,572,187	D32G	possibly damaging	Het
Senp8	A	G	9: 59,737,438	V132A	possibly damaging	Het
Sh2d3c	T	A	2: 32,749,244	C295*	probably null	Het
Stab1	A	G	14: 31,150,648	F1142L	probably benign	Het
Stam2	T	C	2: 52,709,626	T257A	possibly damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tg	A	G	15: 66,682,842	E702G	probably benign	Het
Tgif2lx2	A	T	X: 118,427,993	K218*	probably null	Het
Tpp1	C	A	7: 105,751,698	V41L	probably benign	Het
Tulp3	A	T	6: 128,326,806	S277T	probably benign	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp683	T	C	4: 134,057,455	F338L	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
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
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'- GCGCTTGCAGAGGGTTTTAATC -3'
(R):5'- ATCTCAGCCCGGCATGAATC -3'

Sequencing Primer
(F):5'- TCTGGTGCTGAAGAGTGAAATC -3'
(R):5'- CCGGCATGAATCAGAAACTTAATTTC -3'

Posted On

2014-08-25