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

6092471-6130016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6121083 bp (GRCm39)

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: 40,642,479 (GRCm39)		probably benign	Het
4930578G10Rik	G	T	4: 42,761,098 (GRCm39)		probably benign	Het
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,470,549 (GRCm39)		probably benign	Homo
Arpc1b	CC	CCTGGTC	5: 145,063,602 (GRCm39)		probably null	Het
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Blm	ACCT	ACCTGCCT	7: 80,113,515 (GRCm39)		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,658 (GRCm39)		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,655 (GRCm39)		probably benign	Het
Bltp1	TATTATTAT	TATTATTATTATTATCATTATTAT	3: 37,104,901 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 85,365,352 (GRCm39)		probably benign	Het
Cacna1f	AGG	AGGCGG	X: 7,486,306 (GRCm39)		probably benign	Het
Calhm1	CTCTGTGGCTGTGGCTGTGGCTGTG	CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG	19: 47,129,690 (GRCm39)		probably benign	Het
Casz1	ACCACAGCCACAGCCACAGCCAC	ACCACAGCCACAGCCAC	4: 149,036,759 (GRCm39)		probably benign	Homo
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Cd80	GAA	GAAAAA	16: 38,306,678 (GRCm39)		probably benign	Homo
Cimip2b	CAGAG	CAG	4: 43,427,384 (GRCm39)		probably null	Homo
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Crygc	A	T	1: 65,110,822 (GRCm39)	F155Y	probably benign	Het
Cul9	TCC	TCCCCC	17: 46,811,779 (GRCm39)		probably benign	Het
Cyp2d11	T	TGGGA	15: 82,274,223 (GRCm39)		probably null	Homo
Dbr1	AGG	AGGAGGCGG	9: 99,465,754 (GRCm39)		probably benign	Het
Dennd10	CT	CTTTT	19: 60,803,059 (GRCm39)		probably benign	Homo
Dennd2b	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,156,128 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dnah8	ACACTGCC	AC	17: 30,854,437 (GRCm39)		probably benign	Het
Dthd1	C	CTTA	5: 63,000,369 (GRCm39)		probably benign	Homo
Frem3	CT	CTTTT	8: 81,341,870 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
G530012D18Rik	CACACAGAGAGAGAGAGAGAGAGAGA	CA	1: 85,504,873 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm14393	T	C	2: 174,903,427 (GRCm39)	E160G	possibly damaging	Het
Gm16519	A	AGAAC	17: 71,236,333 (GRCm39)		probably null	Homo
Gm4340	GCAG	GCAACAG	10: 104,031,959 (GRCm39)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,960 (GRCm39)		probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,031,936 (GRCm39)		probably null	Het
Gpatch11	AGGAAG	AGGAAGGGGAAG	17: 79,149,603 (GRCm39)		probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Ipo9	TCC	TCCCCC	1: 135,314,007 (GRCm39)		probably benign	Het
Ipo9	CTC	CTCTTC	1: 135,314,009 (GRCm39)		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,839,019 (GRCm39)		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,800 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,788 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,794 (GRCm39)		probably benign	Het
Krt10	CCTCCT	CCTCCTTCTCCT	11: 99,280,100 (GRCm39)		probably benign	Het
Krt10	CAC	CACGAC	11: 99,277,028 (GRCm39)		probably benign	Het
Krt10	ACCG	ACCGCCG	11: 99,277,029 (GRCm39)		probably benign	Homo
Las1l	TCCTC	TCCTCTACCTC	X: 94,984,228 (GRCm39)		probably benign	Het
Lce1a1	C	T	3: 92,554,151 (GRCm39)	G108S	unknown	Het
Lkaaear1	CCAGCTCCAG	CCAGCTCCAGCTGCAGCTCCAG	2: 181,339,387 (GRCm39)		probably benign	Het
Lrit3	CTG	CTGTTG	3: 129,582,457 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,452 (GRCm39)		probably benign	Het
Mapk7	TGCTGGCGCTGGTGCTGGCGCTGG	TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG	11: 61,381,032 (GRCm39)		probably benign	Het
Mast4	GCA	GCAGTGTCA	13: 102,872,825 (GRCm39)		probably benign	Homo
Mast4	TTTT	TTTTATTT	13: 102,871,365 (GRCm39)		probably null	Het
Med12l	AGC	AGCCGC	3: 59,183,406 (GRCm39)		probably benign	Het
Mfsd5	G	A	15: 102,189,596 (GRCm39)	V323I	probably benign	Het
Nacad	GTC	GTCAGGATC	11: 6,549,761 (GRCm39)		probably benign	Het
Naip1	A	C	13: 100,559,584 (GRCm39)	M1140R	probably benign	Het
Nbea	TTTA	T	3: 55,916,633 (GRCm39)		probably benign	Homo
Nefh	CTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,040 (GRCm39)		probably benign	Homo
Nefh	ACTTGGCCTCACCTGGGG	ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG	11: 4,891,033 (GRCm39)		probably benign	Het
Nefh	GCCTCACCTGGGGACTTGGCCTC	GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,038 (GRCm39)		probably benign	Homo
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Nutf2	G	T	8: 106,603,202 (GRCm39)	D78Y	probably damaging	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or5e1	AT	ATGATATT	7: 108,354,161 (GRCm39)		probably benign	Homo
Or5p70	A	G	7: 107,995,100 (GRCm39)	T258A	probably benign	Het
Or5p70	G	A	7: 107,995,105 (GRCm39)	M259I	probably benign	Het
Pdik1l	ACCAC	ACCACCCCCAC	4: 134,006,823 (GRCm39)		probably benign	Het
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Pik3c2g	AG	AGAGGG	6: 139,612,654 (GRCm39)		probably null	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Homo
Prag1	C	CAGT	8: 36,571,040 (GRCm39)		probably benign	Homo
Pramel16	G	A	4: 143,676,312 (GRCm39)	T264M	probably damaging	Het
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Homo
Raet1d	A	G	10: 22,247,458 (GRCm39)	Q178R	probably benign	Het
Serpina3i	CGG	CGGTGG	12: 104,231,423 (GRCm39)		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,646,815 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,784 (GRCm39)		probably benign	Het
Sp140l1	A	C	1: 85,087,072 (GRCm39)	N6K	probably damaging	Het
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	GCTGCTGCTGCTG	GCTGCTGCTGCTGCTG	Y: 2,662,824 (GRCm39)		probably benign	Het
Tbr1	A	C	2: 61,636,691 (GRCm39)		probably benign	Het
Tdpoz2	T	TCC	3: 93,558,922 (GRCm39)		probably null	Homo
Tdpoz4	GAA	GA	3: 93,704,187 (GRCm39)		probably null	Het
Tgoln1	AAG	AAGCCTCAG	6: 72,593,334 (GRCm39)		probably benign	Homo
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Het
Tob1	CA	CAGAA	11: 94,105,303 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,280 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,286 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Triobp	TCGG	TCGGCGG	15: 78,877,590 (GRCm39)		probably benign	Homo
Tsbp1	GC	GCAAC	17: 34,679,051 (GRCm39)		probably benign	Het
Tsbp1	CAG	CAGTAG	17: 34,679,034 (GRCm39)		probably null	Het
Tsbp1	GCA	GCATCA	17: 34,679,042 (GRCm39)		probably benign	Het
Tsen2	AGG	AGGGGG	6: 115,537,027 (GRCm39)		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,537,030 (GRCm39)		probably benign	Homo
Ubtf	TCC	TCCCCC	11: 102,197,776 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,561,032 (GRCm39)		probably benign	Homo
Zfp28	G	A	7: 6,397,862 (GRCm39)	G766R	probably damaging	Het
Zfp384	AAGCCCAGGCCCAGGCCCAGGCCCA	AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA	6: 125,013,426 (GRCm39)		probably benign	Het
Zfp428	G	A	7: 24,214,506 (GRCm39)	D41N	probably damaging	Homo
Zfp598	CCACAGGC	CC	17: 24,898,346 (GRCm39)		probably benign	Het
Zfp598	CCACCA	CCACCAACACCA	17: 24,899,757 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,487,273 (GRCm39)		probably benign	Het
Zfp933	GCTT	GCTTTTCTT	4: 147,910,186 (GRCm39)		probably null	Homo
Zfp936	G	A	7: 42,838,913 (GRCm39)	G127R	possibly damaging	Het

Other mutations in Serac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Serac1	APN	17	6,124,528 (GRCm39)	splice site	probably benign
IGL02642:Serac1	APN	17	6,096,021 (GRCm39)	missense	possibly damaging	0.56
IGL02972:Serac1	APN	17	6,121,039 (GRCm39)	nonsense	probably null
FR4304:Serac1	UTSW	17	6,121,083 (GRCm39)	missense	probably damaging	1.00
FR4342:Serac1	UTSW	17	6,121,083 (GRCm39)	missense	probably damaging	1.00
FR4589:Serac1	UTSW	17	6,121,083 (GRCm39)	missense	probably damaging	1.00
PIT4480001:Serac1	UTSW	17	6,101,087 (GRCm39)	missense	probably damaging	1.00
R0076:Serac1	UTSW	17	6,115,212 (GRCm39)	splice site	probably benign
R0076:Serac1	UTSW	17	6,115,212 (GRCm39)	splice site	probably benign
R0127:Serac1	UTSW	17	6,099,115 (GRCm39)	missense	probably damaging	1.00
R0211:Serac1	UTSW	17	6,100,335 (GRCm39)	missense	possibly damaging	0.67
R0245:Serac1	UTSW	17	6,102,031 (GRCm39)	missense	probably damaging	1.00
R0538:Serac1	UTSW	17	6,099,101 (GRCm39)	splice site	probably benign
R0652:Serac1	UTSW	17	6,102,031 (GRCm39)	missense	probably damaging	1.00
R0988:Serac1	UTSW	17	6,111,855 (GRCm39)	missense	probably benign	0.02
R1965:Serac1	UTSW	17	6,099,274 (GRCm39)	missense	possibly damaging	0.72
R1984:Serac1	UTSW	17	6,095,964 (GRCm39)	splice site	probably null
R2145:Serac1	UTSW	17	6,101,060 (GRCm39)	missense	probably damaging	1.00
R3426:Serac1	UTSW	17	6,117,053 (GRCm39)	missense	probably benign	0.04
R3921:Serac1	UTSW	17	6,117,067 (GRCm39)	missense	probably damaging	1.00
R4760:Serac1	UTSW	17	6,102,065 (GRCm39)	missense	possibly damaging	0.69
R4958:Serac1	UTSW	17	6,119,657 (GRCm39)	missense	probably benign	0.15
R5552:Serac1	UTSW	17	6,106,967 (GRCm39)	nonsense	probably null
R5874:Serac1	UTSW	17	6,094,188 (GRCm39)	unclassified	probably benign
R5964:Serac1	UTSW	17	6,115,324 (GRCm39)	missense	probably benign
R6614:Serac1	UTSW	17	6,095,937 (GRCm39)	missense	probably damaging	1.00
R6794:Serac1	UTSW	17	6,101,985 (GRCm39)	missense	probably damaging	1.00
R6949:Serac1	UTSW	17	6,102,090 (GRCm39)	missense	probably damaging	1.00
R7157:Serac1	UTSW	17	6,124,476 (GRCm39)	missense	probably benign
R7161:Serac1	UTSW	17	6,115,351 (GRCm39)	missense	probably damaging	0.97
R7426:Serac1	UTSW	17	6,119,589 (GRCm39)	missense	probably damaging	1.00
R8270:Serac1	UTSW	17	6,101,033 (GRCm39)	missense	probably damaging	1.00
R8733:Serac1	UTSW	17	6,100,303 (GRCm39)	missense	probably damaging	1.00
R8785:Serac1	UTSW	17	6,094,477 (GRCm39)	missense	probably damaging	0.99
R9057:Serac1	UTSW	17	6,111,890 (GRCm39)	missense	probably damaging	0.98
R9657:Serac1	UTSW	17	6,119,658 (GRCm39)	missense	probably benign	0.04
Z1088:Serac1	UTSW	17	6,099,193 (GRCm39)	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