Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4340:Serac1'

511180

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 #

FR4340 ()

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6070808 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Lysine to Asparagine at position 70 (K70N)

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: K70N

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

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: K70N

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: K70N

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

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: K70N

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: ENSMUST00000139542

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 94.3%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Het
4930578G10Rik	G	T	4: 42,761,098		probably benign	Het
4932438A13Rik	TATTATTAT	TATTATTATTATTATCATTATTAT	3: 37,050,752		probably benign	Het
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
A530032D15Rik	A	C	1: 85,109,351	N6K	probably damaging	Het
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,163,381		probably benign	Homo
Arpc1b	CC	CCTGGTC	5: 145,126,792		probably null	Het
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
BC051142	CAG	CAGTAG	17: 34,460,060		probably null	Het
BC051142	GCA	GCATCA	17: 34,460,068		probably benign	Het
BC051142	GC	GCAAC	17: 34,460,077		probably benign	Het
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Blm	ACCT	ACCTGCCT	7: 80,463,767		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,907		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,910		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 84,638,723		probably benign	Het
Cacna1f	AGG	AGGCGG	X: 7,620,067		probably benign	Het
Calhm1	CTCTGTGGCTGTGGCTGTGGCTGTG	CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG	19: 47,141,251		probably benign	Het
Casz1	ACCACAGCCACAGCCACAGCCAC	ACCACAGCCACAGCCAC	4: 148,952,302		probably benign	Homo
Cd164	G	T	10: 41,521,926	A59S	probably benign	Het
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Cd80	GAA	GAAAAA	16: 38,486,316		probably benign	Homo
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Crygc	A	T	1: 65,071,663	F155Y	probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,853		probably benign	Het
Cyp2d11	T	TGGGA	15: 82,390,022		probably null	Homo
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGG	AGGAGGCGG	9: 99,583,701		probably benign	Het
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dnah8	ACACTGCC	AC	17: 30,635,463		probably benign	Het
Dthd1	C	CTTA	5: 62,843,026		probably benign	Homo
Fam166b	CAGAG	CAG	4: 43,427,384		probably null	Homo
Fam45a	CT	CTTTT	19: 60,814,621		probably benign	Homo
Frem3	CT	CTTTT	8: 80,615,241		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
G530012D18Rik	CACACAGAGAGAGAGAGAGAGAGAGA	CA	1: 85,577,152		probably benign	Het
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm14393	T	C	2: 175,061,634	E160G	possibly damaging	Het
Gm16519	A	AGAAC	17: 70,929,338		probably null	Homo
Gm4340	CAG	CAGTAG	10: 104,196,075		probably null	Het
Gm4340	GCAG	GCAACAG	10: 104,196,098		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,099		probably benign	Het
Gpatch11	AGGAAG	AGGAAGGGGAAG	17: 78,842,174		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Ipo9	TCC	TCCCCC	1: 135,386,269		probably benign	Het
Ipo9	CTC	CTCTTC	1: 135,386,271		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,931,712		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,363		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,369		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,375		probably benign	Het
Krt10	CAC	CACGAC	11: 99,386,202		probably benign	Het
Krt10	ACCG	ACCGCCG	11: 99,386,203		probably benign	Homo
Krt10	CCTCCT	CCTCCTTCTCCT	11: 99,389,274		probably benign	Het
Las1l	TCCTC	TCCTCTACCTC	X: 95,940,622		probably benign	Het
Lce1a1	C	T	3: 92,646,844	G108S	unknown	Het
Lkaaear1	CCAGCTCCAG	CCAGCTCCAGCTGCAGCTCCAG	2: 181,697,594		probably benign	Het
Lrit3	CTG	CTGTTG	3: 129,788,808		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,846		probably benign	Het
Mapk7	TGCTGGCGCTGGTGCTGGCGCTGG	TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG	11: 61,490,206		probably benign	Het
Mast4	TTTT	TTTTATTT	13: 102,734,857		probably null	Het
Mast4	GCA	GCAGTGTCA	13: 102,736,317		probably benign	Homo
Med12l	AGC	AGCCGC	3: 59,275,985		probably benign	Het
Mfsd5	G	A	15: 102,281,161	V323I	probably benign	Het
Nacad	GTC	GTCAGGATC	11: 6,599,761		probably benign	Het
Naip1	A	C	13: 100,423,076	M1140R	probably benign	Het
Nbea	TTTA	T	3: 56,009,212		probably benign	Homo
Nefh	ACTTGGCCTCACCTGGGG	ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG	11: 4,941,033		probably benign	Het
Nefh	GCCTCACCTGGGGACTTGGCCTC	GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,038		probably benign	Homo
Nefh	CTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,040		probably benign	Homo
Neu1	TCTTCTA	T	17: 34,932,558		probably benign	Het
Nutf2	G	T	8: 105,876,570	D78Y	probably damaging	Het
Olfr495	A	G	7: 108,395,893	T258A	probably benign	Het
Olfr495	G	A	7: 108,395,898	M259I	probably benign	Het
Olfr513	AT	ATGATATT	7: 108,754,954		probably benign	Homo
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
Park2	G	A	17: 11,854,763	V323M	probably damaging	Homo
Pdik1l	ACCAC	ACCACCCCCAC	4: 134,279,512		probably benign	Het
Pik3c2g	AG	AGAGGG	6: 139,635,656		probably null	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Homo
Prag1	C	CAGT	8: 36,103,886		probably benign	Homo
Pramef25	G	A	4: 143,949,742	T264M	probably damaging	Het
Raet1d	A	G	10: 22,371,559	Q178R	probably benign	Het
Serpina3i	CGG	CGGTGG	12: 104,265,164		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,569,751		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,356		probably benign	Het
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	GCTGCTGCTGCTG	GCTGCTGCTGCTGCTG	Y: 2,662,824		probably benign	Het
St5	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,556,921		probably benign	Het
Tbr1	A	C	2: 61,806,347		probably benign	Het
Tdpoz2	T	TCC	3: 93,651,615		probably null	Homo
Tdpoz4	GAA	GA	3: 93,796,880		probably null	Het
Tgoln1	AAG	AAGCCTCAG	6: 72,616,351		probably benign	Homo
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Het
Tob1	AGC	AGCCGC	11: 94,214,454		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,460		probably benign	Het
Tob1	CA	CAGAA	11: 94,214,477		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Triobp	TCGG	TCGGCGG	15: 78,993,390		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,560,066		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,560,069		probably benign	Homo
Ubtf	TCC	TCCCCC	11: 102,306,950		probably benign	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,323,592		probably benign	Homo
Zfp28	G	A	7: 6,394,863	G766R	probably damaging	Het
Zfp384	AAGCCCAGGCCCAGGCCCAGGCCCA	AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA	6: 125,036,463		probably benign	Het
Zfp428	G	A	7: 24,515,081	D41N	probably damaging	Homo
Zfp598	CCACAGGC	CC	17: 24,679,372		probably benign	Het
Zfp598	CCACCA	CCACCAACACCA	17: 24,680,783		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,480		probably benign	Het
Zfp933	GCTT	GCTTTTCTT	4: 147,825,729		probably null	Homo
Zfp936	G	A	7: 43,189,489	G127R	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
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
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'- AATCTGGTCATCAGTTAATGGTTGG -3'
(R):5'- GCACATTACTGTATGCTAGTTTCCTAG -3'

Sequencing Primer
(F):5'- GATGTCTCAAAGAGTCCATGCCTG -3'
(R):5'- GTAAACTAGAAAGCAGTTCACTGTG -3'

Posted On

2018-04-05