Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Serac1'

21487

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0127 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6048840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 559 (L559I)

Ref Sequence

ENSEMBL: ENSMUSP00000095043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024570] [ENSMUST00000061091] [ENSMUST00000097432] [ENSMUST00000115788]

AlphaFold

Q3U213

Predicted Effect

probably damaging
Transcript: ENSMUST00000024570
AA Change: L529I

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

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: L529I

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 benign
Transcript: ENSMUST00000061091

SMART Domains

Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	263	2.5e-72	PFAM
Blast:IPPc	394	423	3e-6	BLAST
IPPc	443	785	3.72e-128	SMART
DUF1866	778	923	1.04e-73	SMART
low complexity region	926	940	N/A	INTRINSIC
low complexity region	965	976	N/A	INTRINSIC
low complexity region	1012	1027	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097432
AA Change: L559I

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

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: L559I

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: ENSMUST00000115788

SMART Domains

Protein: ENSMUSP00000111454
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	108	4.8e-28	PFAM
Blast:IPPc	239	268	2e-6	BLAST
IPPc	288	630	3.72e-128	SMART
DUF1866	623	768	1.04e-73	SMART
low complexity region	771	785	N/A	INTRINSIC
low complexity region	810	821	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153325

Meta Mutation Damage Score

0.1505

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,454	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155	I1351V	probably benign	Het
Acap1	A	T	11: 69,887,217		probably benign	Het
Als2cl	T	C	9: 110,891,867	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,456,235	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,103,460	N262K	probably damaging	Het
Baz1a	T	A	12: 54,898,706	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,895,029	D371E	probably benign	Het
Bphl	A	G	13: 34,064,046		probably benign	Het
Caskin2	C	A	11: 115,800,994	R988S	probably damaging	Het
Cbr1	C	A	16: 93,609,987	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,935,740	E1213G	possibly damaging	Het
Ccna1	A	G	3: 55,049,748	F83L	probably damaging	Het
Cep290	T	A	10: 100,536,925		probably benign	Het
Cep89	C	A	7: 35,428,262	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,781,670	M45V	probably benign	Het
Col16a1	T	A	4: 130,052,857	V91E	probably damaging	Het
Csmd3	T	C	15: 47,981,930	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,577,208		probably benign	Het
Dao	T	A	5: 114,019,963	H215Q	probably damaging	Het
Dido1	T	C	2: 180,671,824	D885G	probably benign	Het
Dlx4	T	G	11: 95,141,229	M240L	probably benign	Het
Dnah5	C	T	15: 28,294,925	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,038,734		probably benign	Het
Dock5	A	T	14: 67,846,042	D139E	probably benign	Het
Fam234b	T	C	6: 135,218,823		probably benign	Het
Fat2	T	C	11: 55,289,286	T1410A	probably benign	Het
Fsip2	T	A	2: 82,984,925	N3667K	probably benign	Het
Gm14085	T	A	2: 122,517,069		probably null	Het
Gm5114	T	C	7: 39,408,456	I580V	probably benign	Het
Hapln1	A	T	13: 89,607,869	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,925,405	V694A	probably benign	Het
Hps1	A	G	19: 42,771,111		probably benign	Het
Igsf9b	G	T	9: 27,334,385	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,569,070	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,786,465	M1V	probably null	Het
Krit1	A	G	5: 3,822,178	E401G	probably damaging	Het
Lamp1	T	C	8: 13,174,491	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,114,591	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,804,175	I25V	probably benign	Het
Mep1a	A	G	17: 43,497,886		probably benign	Het
Mgea5	A	T	19: 45,771,888	I277N	probably damaging	Het
Mkrn1	A	G	6: 39,399,275	W466R	probably benign	Het
Muc2	C	A	7: 141,748,954	F11L	probably benign	Het
Nebl	T	A	2: 17,392,983	M501L	probably benign	Het
Olfr1151	A	G	2: 87,857,483	I103V	probably benign	Het
Olfr1179	A	G	2: 88,402,355	V193A	probably benign	Het
Olfr744	A	G	14: 50,618,332	I37V	probably benign	Het
Olfr951	A	G	9: 39,393,942	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,050,048		probably benign	Het
Pkhd1l1	A	G	15: 44,554,605	M2886V	probably damaging	Het
Pop5	T	A	5: 115,240,171	L58H	probably damaging	Het
Prkch	C	A	12: 73,721,787	H444N	possibly damaging	Het
Reln	T	C	5: 22,004,136	D1148G	probably damaging	Het
Rffl	G	A	11: 82,812,632	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,670,569	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,989,944	R101H	probably benign	Het
Rtf1	G	A	2: 119,726,743	R443H	probably damaging	Het
Slc12a1	A	G	2: 125,219,762	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,855,986	W456R	probably damaging	Het
Slc35f5	C	T	1: 125,576,205	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,553,117	R167Q	probably benign	Het
Spag4	T	C	2: 156,068,042	V302A	probably damaging	Het
Spire2	A	C	8: 123,358,097		probably benign	Het
Sptbn2	G	T	19: 4,724,744	V142L	probably damaging	Het
Syt17	T	A	7: 118,409,941	D352V	probably damaging	Het
Tarsl2	A	T	7: 65,664,969	D425V	probably benign	Het
Tctex1d1	T	C	4: 103,002,452		probably benign	Het
Thsd7a	A	G	6: 12,554,908	S326P	probably benign	Het
Tnpo2	T	C	8: 85,040,628	S64P	probably damaging	Het
Tonsl	G	T	15: 76,633,485	A678D	probably benign	Het
Trim12c	A	G	7: 104,340,906		probably null	Het
Tsc22d1	A	G	14: 76,418,981	T885A	possibly damaging	Het
Ttn	T	C	2: 76,742,198	D26117G	probably damaging	Het
Ttn	T	A	2: 76,877,011		probably benign	Het
Ugt3a1	T	C	15: 9,306,256	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,455,703	N170S	probably damaging	Het
Vrk2	G	T	11: 26,534,313		probably benign	Het
Wt1	C	A	2: 105,133,457	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,411,815	A368V	probably benign	Het
Zc3h13	A	T	14: 75,323,254	D428V	unknown	Het
Zcchc8	C	G	5: 123,707,337	G320A	probably damaging	Het
Znfx1	T	C	2: 167,044,210	E810G	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
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
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'- ATGCTGGGCTCCGAAACCAAAC -3'
(R):5'- TGAAGAAGATGCTGTTGGAAGCCTC -3'

Sequencing Primer
(F):5'- ACATGCTGGCTCAAAAGTTC -3'
(R):5'- CTGTTGGAAGCCTCTAAGAAGC -3'

Posted On

2013-04-11