Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4589:Serac1'

511417

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 #

FR4589 ()

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: 99.8%
3x: 99.5%
10x: 98.4%
20x: 96.1%

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	TCC	TCCCCC	2: 130,770,745		probably benign	Het
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Het
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,163,381		probably benign	Homo
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apol6	GTTT	GTTTTTTT	15: 77,051,438		probably null	Het
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
AY761185	CACTGTGGG	C	8: 20,943,903		probably null	Het
BC051142	GCA	GCACCA	17: 34,460,053		probably benign	Het
BC051142	AGC	AGCCGC	17: 34,460,073		probably benign	Het
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Blm	TACC	TACCGACC	7: 80,463,770		probably null	Het
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Btnl4	T	A	17: 34,472,636	K293M	probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Het
Cd109	ATTTAT	ATTTATTTATTTCTTTAT	9: 78,712,529		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Chd4	C	T	6: 125,122,133	P1597L	probably benign	Homo
Chd4	CCCCTGCCCCTGCCACTGCCCCTGCC	CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC	6: 125,122,139		probably benign	Homo
Chga	AGC	AGCTGC	12: 102,561,402		probably benign	Het
Cluh	AGCC	AGCCTGGGCC	11: 74,669,531		probably benign	Het
Cnpy3	ACCC	ACCCCCC	17: 46,736,739		probably benign	Het
Cntnap1	CCCAGC	CCCAGCTCCAGC	11: 101,189,566		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Cntnap1	CAGCCC	CAGCCCGAGCCC	11: 101,189,580		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cttnbp2	ATT	ATTTCTGTT	6: 18,367,458		probably benign	Het
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,677		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,683		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696		probably benign	Het
Dclre1a	AGGCTTTG	AG	19: 56,544,123		probably benign	Het
Dcpp1	A	C	17: 23,881,454	K53Q	probably benign	Het
Dhx8	CGAGAC	CGAGACAGAGAC	11: 101,738,188		probably benign	Homo
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTT	5: 62,843,026		probably null	Homo
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Eps8	AC	ACTCGC	6: 137,517,069		probably null	Het
Ermn	TTC	TTCATC	2: 58,048,069		probably benign	Het
Fam81b	TC	TCTCC	13: 76,271,323		probably benign	Het
Fbrsl1	TG	TGCGTGTGCTGGCG	5: 110,378,150		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,100		probably benign	Het
Fbxo43	CCTGTG	CCTGTGTCTGTG	15: 36,152,101		probably benign	Het
Fmn1	CTCCTC	CTCCTCTTCCTC	2: 113,525,773		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774		probably benign	Het
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gabre	GCTCCGACTCCGACTCCG	GCTCCGACTCCGACTCCGACTCCG	X: 72,270,030		probably benign	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042		probably benign	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm10324	G	A	13: 66,122,208	S396N	probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,196,078		probably null	Het
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm4340	AG	AGCCG	10: 104,196,100		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Ipo9	CCATC	CCATCATC	1: 135,386,266		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Isg20l2	GAAA	GAAAAAA	3: 87,931,717		probably benign	Homo
Klra9	C	G	6: 130,182,403	D216H	probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,361		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364		probably null	Het
Kmt2b	TCC	TCCTCCGCC	7: 30,586,381		probably benign	Het
Krt10	TCC	TCCGCCGCC	11: 99,389,276		probably benign	Het
Las1l	TCTTCC	TCTTCCGCTTCC	X: 95,940,619		probably benign	Het
Las1l	TTCCTCCTCCTC	TTCCTC	X: 95,940,621		probably benign	Het
Las1l	TC	TCTTCCAC	X: 95,940,625		probably benign	Het
Lce1m	TGCTGCCACC	TGCTGCCACCACGGCTGCCACC	3: 93,018,268		probably benign	Homo
Lor	GCCGCCGCC	GC	3: 92,081,894		probably null	Het
Lrit3	AC	ACATCC	3: 129,803,913		probably null	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Mapk7	GG	GGTGCTAG	11: 61,490,222		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,275,956		probably benign	Het
Nacad	GGGTCA	GGGTCATGGTCA	11: 6,599,753		probably benign	Het
Ndufc2	G	C	7: 97,400,290	M34I	probably benign	Het
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	AG	AGCCTTTG	14: 38,397,266		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGATTTTGTTTT	4: 134,279,368		probably null	Homo
Pdik1l	TTTTGTTTT	TTTTGTTTTGTGTTTGTTTT	4: 134,279,369		probably null	Homo
Plekhs1	AC	ACCTCCCCCGAGGC	19: 56,479,863		probably benign	Het
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prtg	G	A	9: 72,856,865	R540Q	probably damaging	Het
Raet1d	T	TCCTCTCTGGTAG	10: 22,370,918		probably null	Homo
Rhbdf1	A	ATTTT	11: 32,214,391		probably benign	Het
Rps19	AAAATT	AAAATTGAAATT	7: 24,889,182		probably benign	Het
Rtbdn	GGCAGC	GGCAGCCGCAGC	8: 84,956,171		probably benign	Het
Scaf4	TGCGGC	TGC	16: 90,229,854		probably benign	Homo
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,297		probably benign	Het
Shf	TCT	TCTGCT	2: 122,354,177		probably benign	Homo
Shroom4	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	X: 6,624,061		probably benign	Homo
Six3	CGG	CGGAGG	17: 85,621,365		probably benign	Het
Snx1	TCT	TCTCCT	9: 66,104,926		probably benign	Homo
Spag17	AGG	AGGGGG	3: 100,056,245		probably benign	Het
Spag17	GGA	GGATGA	3: 100,056,258		probably benign	Het
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	ACTG	ACTGCTG	Y: 2,662,818		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,727,651		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,655		probably benign	Het
Supt20	A	AGCAGCT	3: 54,727,671		probably benign	Het
Tcof1	GGGTA	G	18: 60,828,650		probably benign	Homo
Tert	C	CAAGGGTGCG	13: 73,648,304		probably benign	Het
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Het
Tmed6	C	CTAGA	8: 107,061,598		probably null	Homo
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Tob1	CA	CAGCAA	11: 94,214,477		probably null	Het
Trcg1	AGCTCCTGTGTCTGT	A	9: 57,242,202		probably null	Homo
Trim16	A	AAGC	11: 62,820,695		probably benign	Homo
Tubgcp4	GTGA	G	2: 121,175,463		probably benign	Het
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,307		probably benign	Het
Ubtf	CTCTTC	CTCTTCTTC	11: 102,306,943		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Vars	GTGG	GTGGAGTCCTGGTTGG	17: 35,015,988		probably benign	Homo
Vmn2r52	C	T	7: 10,159,020	E731K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,323,592		probably benign	Homo
Zc3h13	TGTGCGAG	TGTGCGAGGAGTGCGAG	14: 75,323,597		probably benign	Het
Zc3h13	GTGCGAGAT	GTGCGAGATTTGCGAGAT	14: 75,323,598		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGAAGCA	8: 108,956,101		probably benign	Het
Zfp282	GGC	GGCAGC	6: 47,904,791		probably benign	Het
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,779		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,468		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
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'- GCACATTACTGTATGCTAGTTTCC -3'

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

Posted On

2018-04-05