Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Serac1'

557606

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6092471-6130016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6115351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 204 (D204G)

Ref Sequence

ENSEMBL: ENSMUSP00000095043 (fasta)

Gene Model

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

AlphaFold

Q3U213

Predicted Effect

probably benign
Transcript: ENSMUST00000024570
AA Change: D174G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: D174G

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: D204G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: D204G

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

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,964,968 (GRCm39)	Q443L	probably benign	Het
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Afdn	T	A	17: 14,109,208 (GRCm39)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,155,535 (GRCm39)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,456,534 (GRCm39)	E526G	probably damaging	Het
Car13	A	G	3: 14,710,268 (GRCm39)	D70G	probably benign	Het
Castor2	C	A	5: 134,164,029 (GRCm39)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,500,996 (GRCm39)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccr10	A	G	11: 101,065,104 (GRCm39)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,400 (GRCm39)	V1005M	probably benign	Het
Chil6	A	G	3: 106,301,728 (GRCm39)	I124T	probably benign	Het
Coq8a	A	G	1: 179,997,906 (GRCm39)		probably null	Het
Ctf2	T	A	7: 127,318,476 (GRCm39)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,844,209 (GRCm39)	V76A	possibly damaging	Het
Disp1	A	G	1: 182,869,189 (GRCm39)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah9	T	A	11: 65,746,198 (GRCm39)	K3972*	probably null	Het
Dnai4	G	A	4: 102,953,813 (GRCm39)	P129S	probably benign	Het
Dusp7	T	A	9: 106,246,114 (GRCm39)	S40T	unknown	Het
Emg1	T	C	6: 124,682,712 (GRCm39)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,752,043 (GRCm39)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,055,048 (GRCm39)	D167A	probably damaging	Het
Fes	A	T	7: 80,030,609 (GRCm39)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,223,234 (GRCm39)	G190R	probably damaging	Het
Gdf15	T	G	8: 71,083,992 (GRCm39)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,314,579 (GRCm39)	V355F	probably damaging	Het
Herc4	T	A	10: 63,144,194 (GRCm39)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,242,030 (GRCm39)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Itpr1	C	T	6: 108,363,601 (GRCm39)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,103,677 (GRCm39)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,944,483 (GRCm39)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,755,323 (GRCm39)	Y103H	probably damaging	Het
Knl1	A	G	2: 118,901,266 (GRCm39)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,102,200 (GRCm39)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,655,809 (GRCm39)	P138L	probably benign	Het
Lhx1	G	A	11: 84,410,698 (GRCm39)	P300S	probably damaging	Het
Mppe1	G	A	18: 67,362,842 (GRCm39)	A131V	probably benign	Het
Neb	A	T	2: 52,161,604 (GRCm39)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,708,546 (GRCm39)	F740L	probably benign	Het
Nop10	A	G	2: 112,092,391 (GRCm39)	N8S	probably benign	Het
Opalin	T	A	19: 41,058,374 (GRCm39)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,720,993 (GRCm39)	H175Q	probably benign	Het
Pask	C	T	1: 93,238,627 (GRCm39)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,948,716 (GRCm39)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,695,558 (GRCm39)	M463T	probably benign	Het
Pde6a	A	T	18: 61,414,596 (GRCm39)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,033,850 (GRCm39)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,050,658 (GRCm39)	N234S	probably damaging	Het
Ptprm	T	A	17: 67,116,622 (GRCm39)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,288,064 (GRCm39)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,553,707 (GRCm39)	I103F	probably damaging	Het
Rfc4	A	G	16: 22,934,183 (GRCm39)	I206T	probably benign	Het
Rhcg	A	G	7: 79,267,189 (GRCm39)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,945,803 (GRCm39)	I89V	probably benign	Het
Serpinb3c	T	C	1: 107,200,892 (GRCm39)	N175S	probably null	Het
Slc25a19	C	T	11: 115,507,373 (GRCm39)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,307,303 (GRCm39)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,534,126 (GRCm39)		probably benign	Het
Spats1	T	A	17: 45,760,095 (GRCm39)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,689 (GRCm39)	T219A	probably benign	Het
Spink13	A	G	18: 62,748,026 (GRCm39)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm39)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm39)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,300,633 (GRCm39)	*439Q	probably null	Het
Tmed2	T	A	5: 124,684,983 (GRCm39)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,637,470 (GRCm39)	Y370*	probably null	Het
Ttn	A	G	2: 76,642,588 (GRCm39)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,253,292 (GRCm39)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,030,695 (GRCm39)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,309,143 (GRCm39)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,223,251 (GRCm39)	L173P	probably benign	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
FR4340: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
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'- GCTAGCCCCAGCACAGTG -3'
(R):5'- GTAGCAGGGGTTGAAGCGTA -3'

Sequencing Primer
(F):5'- TGCCCTGGGAAAGTGTTAACAC -3'
(R):5'- AACCTTCACTTTGGTGGG -3'

Posted On

2019-06-26