Mutagenetix > Incidental Mutation

Incidental Mutation 'R6614:Serac1'

523880

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 #

R6614 (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 6045662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 604 (V604E)

Ref Sequence

ENSEMBL: ENSMUSP00000095043 (fasta)

Gene Model

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

AlphaFold

Q3U213

Predicted Effect

probably damaging
Transcript: ENSMUST00000024570
AA Change: V574E

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

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: V574E

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 damaging
Transcript: ENSMUST00000097432
AA Change: V604E

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

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: V604E

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

Meta Mutation Damage Score

0.9606

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	A	8: 124,861,247		probably null	Het
4932415D10Rik	T	A	10: 82,291,648	N1843Y	probably benign	Het
Abca13	A	T	11: 9,294,371	N2078I	probably benign	Het
Abcc2	A	G	19: 43,819,361	I814V	probably benign	Het
Adamts4	A	G	1: 171,256,624	R557G	probably benign	Het
Bysl	A	T	17: 47,601,842	L341Q	probably damaging	Het
C130026I21Rik	A	C	1: 85,202,060		probably null	Het
Csmd1	C	T	8: 17,216,787	G41D	probably damaging	Het
Dnah11	T	C	12: 117,886,676	D4221G	possibly damaging	Het
Dnah7c	C	A	1: 46,649,340	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,649,351	S1894G	probably benign	Het
Dnajc21	A	G	15: 10,470,263		probably null	Het
Elavl1	C	A	8: 4,289,818	A255S	probably damaging	Het
Filip1	C	T	9: 79,815,839	G1166D	probably damaging	Het
Gm17727	A	G	9: 35,777,125	W55R	probably damaging	Het
Gnptg	T	C	17: 25,235,261	Y184C	probably damaging	Het
Ifit3b	A	T	19: 34,611,519	S32C	probably benign	Het
Kcnh7	T	G	2: 62,777,596	Y547S	probably damaging	Het
Lima1	G	A	15: 99,783,580	A243V	probably damaging	Het
Mast3	T	A	8: 70,781,966	I67F	possibly damaging	Het
Ncor1	A	C	11: 62,330,819	M1283R	probably benign	Het
Ndufv1	G	A	19: 4,008,749	T253I	probably benign	Het
Neurog1	G	T	13: 56,251,824	Q37K	probably benign	Het
Nol4	T	G	18: 22,920,856	K200Q	probably damaging	Het
Obscn	T	C	11: 59,012,801	H7599R	probably benign	Het
Olfr57	C	A	10: 79,035,091	C98*	probably null	Het
Olfr728	T	A	14: 50,140,364	I92F	probably damaging	Het
Olfr733	T	A	14: 50,299,037	I91L	probably benign	Het
Olfr739	C	T	14: 50,425,089	T190I	probably benign	Het
Olfr96	T	C	17: 37,225,899	V258A	probably benign	Het
Oog4	A	G	4: 143,437,875	V362A	possibly damaging	Het
Oosp1	T	A	19: 11,690,950	D23V	probably damaging	Het
P2rx3	A	G	2: 85,035,199	I34T	probably damaging	Het
Pla2g4a	A	T	1: 149,842,235	V621E	probably benign	Het
Prpf39	T	G	12: 65,042,563	V25G	probably benign	Het
Psd	T	C	19: 46,313,412	K913E	probably benign	Het
Ptx4	A	T	17: 25,122,702	R50S	possibly damaging	Het
Rex2	A	T	4: 147,052,561	M16L	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Stxbp6	T	A	12: 44,861,275	T187S	probably benign	Het
Tg	G	A	15: 66,735,259	C215Y	probably damaging	Het
Top2b	A	T	14: 16,407,142	K671*	probably null	Het
Trmt1	G	T	8: 84,689,333	V7L	probably benign	Het
Ttn	C	T	2: 76,784,830	R15102H	probably benign	Het
Uhrf1bp1	T	A	17: 27,876,925	I70N	probably benign	Het
Unc79	A	T	12: 102,991,430	I35F	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
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'- CGCTTGCAGAGGGTTTTAATC -3'
(R):5'- GCCCGGCATGAATCAGAAAC -3'

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

Posted On

2018-06-22