Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4480001:Serac1'

554891

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4480001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6050812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 439 (L439P)

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: L409P

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

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: L409P

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: L439P

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

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: L439P

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

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 83.8%
20x: 69.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,283,752	M4475V	probably benign	Het
Actn3	G	A	19: 4,867,577	Q413*	probably null	Het
Ahnak2	C	T	12: 112,773,924	S1238N	possibly damaging	Het
Arsk	T	C	13: 76,062,365	E521G	probably damaging	Het
Baiap2	A	G	11: 119,997,087	T356A	probably benign	Het
Baz1b	G	A	5: 135,217,965	R756H	probably damaging	Het
Celsr1	G	A	15: 86,032,414	P453S	probably damaging	Het
Cep41	G	A	6: 30,658,413	P196S	probably damaging	Het
Cln5	T	A	14: 103,071,778	Y89*	probably null	Het
Cntnap3	A	G	13: 64,757,210	F919S	probably damaging	Het
Cntrl	C	T	2: 35,155,428	H1383Y	probably damaging	Het
Cobl	A	G	11: 12,253,592	S1037P	probably benign	Het
Col17a1	A	T	19: 47,671,374	S380T	probably benign	Het
Dagla	A	T	19: 10,260,658	S323T	probably benign	Het
Dicer1	G	T	12: 104,696,544	Q1593K	probably benign	Het
Dnah6	T	C	6: 73,101,880	I2367V	probably benign	Het
Emc1	T	C	4: 139,359,277	S184P	possibly damaging	Het
Eps8l1	G	A	7: 4,471,415	S295N	probably benign	Het
Erbb4	A	T	1: 68,075,543	M914K	probably damaging	Het
Eva1a	A	G	6: 82,091,803	E37G	probably damaging	Het
Fam49b	G	A	15: 63,956,641	T11I	probably benign	Het
Fyco1	G	T	9: 123,828,650	Y820*	probably null	Het
Gipr	T	C	7: 19,162,934	Y137C	probably damaging	Het
Gm5414	A	G	15: 101,627,746	V148A	probably damaging	Het
Gpn1	T	C	5: 31,497,341	V79A	probably damaging	Het
Grk2	G	A	19: 4,287,409	R617C	possibly damaging	Het
Inpp4b	A	C	8: 82,046,267	E730A	probably damaging	Het
Inpp5f	C	T	7: 128,685,134	T579I	probably benign	Het
Kif15	A	T	9: 123,011,543	M1201L	probably benign	Het
Ltbp3	A	G	19: 5,751,226	N631S	possibly damaging	Het
Mdh1	G	A	11: 21,558,538	S268L	probably damaging	Het
Mgat4e	T	A	1: 134,541,365	T314S	possibly damaging	Het
Nsd1	A	G	13: 55,213,918	Q233R	probably benign	Het
Olfr1141	T	C	2: 87,753,783	D70G	possibly damaging	Het
Olfr738	T	C	14: 50,413,915	F124L	probably benign	Het
Paqr5	T	A	9: 61,956,156	I295L	probably benign	Het
Peg10	C	T	6: 4,756,560	H379Y	unknown	Het
Phtf2	A	T	5: 20,813,244	I33N	probably damaging	Het
Plcb2	T	C	2: 118,723,496	M115V	probably benign	Het
Ppp2r3a	A	G	9: 101,126,377	Y431H	possibly damaging	Het
Prph2	GT	G	17: 46,911,113		probably null	Het
Psmd1	C	T	1: 86,128,238	P774L	probably damaging	Het
Ranbp17	A	T	11: 33,297,340		probably null	Het
Rptn	A	G	3: 93,397,670	D770G	possibly damaging	Het
Slitrk6	TTTTAGTCTGTTCTACCAACACCTT	TTT	14: 110,749,825		probably null	Het
Sox6	T	C	7: 115,597,509	I295M	probably benign	Het
Sulf1	T	A	1: 12,859,413	D301E	probably benign	Het
Tas2r117	G	A	6: 132,803,051	V51I	possibly damaging	Het
Tbx2	C	T	11: 85,834,735	R171C	probably damaging	Het
Tgfbr1	A	G	4: 47,402,955	I320V	probably benign	Het
Tjp3	C	A	10: 81,279,257	G396W	probably damaging	Het
Tmprss2	T	C	16: 97,599,260	N4D	possibly damaging	Het
Tnfaip3	T	C	10: 19,007,323	N165D	probably benign	Het
Tnfrsf21	A	T	17: 43,037,911	Y138F	probably benign	Het
Utp4	T	C	8: 106,906,185	S267P	probably benign	Het
Wnk1	A	T	6: 119,963,367	L803*	probably null	Het
Zbbx	T	A	3: 75,136,487	D35V	probably damaging	Het
Zscan12	T	G	13: 21,368,574	N189K	possibly 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
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
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'- CAATGTTCCCCTGGGAGACAAC -3'
(R):5'- CGCCTTCATTATAAAGATTGATGGC -3'

Sequencing Primer
(F):5'- ACAGCTAGTGTTAGTGCTCCC -3'
(R):5'- GATTGATGGCATTTTATGACCAGAG -3'

Posted On

2019-06-07