Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02642:Serac1'

301769

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02642

Quality Score

Status

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6045746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 576 (F576S)

Ref Sequence

ENSEMBL: ENSMUSP00000095043 (fasta)

Gene Model

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

AlphaFold

Q3U213

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024570
AA Change: F546S

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: F546S

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

possibly damaging
Transcript: ENSMUST00000097432
AA Change: F576S

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: F576S

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

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	C	3: 153,939,083	D68G	probably damaging	Het
Aes	A	T	10: 81,561,292	Q34L	possibly damaging	Het
Amer3	A	G	1: 34,586,680		probably benign	Het
Ankrd11	A	G	8: 122,890,651	L2133P	probably damaging	Het
Bcdin3d	G	T	15: 99,470,792	H175Q	probably damaging	Het
Brd8	C	A	18: 34,608,064		probably benign	Het
C1rl	C	A	6: 124,493,847	T38N	possibly damaging	Het
Cd160	T	C	3: 96,800,611	T140A	probably benign	Het
Cdk16	T	G	X: 20,696,928	D381E	probably benign	Het
Cpq	G	A	15: 33,381,400	G303D	probably damaging	Het
Dmp1	T	C	5: 104,211,670	S71P	probably damaging	Het
Enc1	A	C	13: 97,245,534	D184A	possibly damaging	Het
Enkur	T	C	2: 21,194,387	D112G	probably benign	Het
Esrra	A	T	19: 6,912,850	V59E	possibly damaging	Het
F830016B08Rik	A	G	18: 60,299,986	N47S	probably benign	Het
Fads1	T	A	19: 10,186,421	V189D	probably damaging	Het
Fam160b1	A	G	19: 57,385,350	N681D	possibly damaging	Het
Fam167a	T	A	14: 63,452,272	I6N	probably damaging	Het
Fam98b	A	G	2: 117,260,312	T164A	probably benign	Het
Fryl	T	A	5: 73,095,466	I953L	probably benign	Het
Gm10610	T	A	7: 83,549,605		noncoding transcript	Het
Grik5	G	T	7: 25,058,983	N338K	possibly damaging	Het
Gstt2	A	G	10: 75,832,818	I72T	probably benign	Het
Gusb	T	C	5: 130,000,535		probably null	Het
Hccs	A	G	X: 169,315,592		probably benign	Het
Hoxb4	A	G	11: 96,320,224	K217E	probably damaging	Het
Hpd	C	T	5: 123,181,440	V22I	possibly damaging	Het
Ighv1-47	A	G	12: 114,991,224	Y79H	probably damaging	Het
Il7r	C	A	15: 9,513,047		probably benign	Het
Lama1	A	T	17: 67,812,366	M2613L	probably benign	Het
Lama2	G	A	10: 27,467,273	H68Y	probably damaging	Het
Lce1c	C	A	3: 92,680,538		probably benign	Het
Lmx1a	G	T	1: 167,844,623		probably benign	Het
Lrfn1	T	C	7: 28,458,688		probably benign	Het
Lrriq1	T	A	10: 103,221,461		probably null	Het
Mri1	A	T	8: 84,257,073	L63Q	probably damaging	Het
Mrps11	G	T	7: 78,788,774		probably null	Het
Mtif2	C	A	11: 29,544,395	Q666K	probably benign	Het
Mtr	A	T	13: 12,195,232		probably benign	Het
Mug1	A	G	6: 121,882,585	N1181S	probably benign	Het
Myom1	A	T	17: 71,101,098	E1209V	possibly damaging	Het
Nhsl1	A	G	10: 18,408,390	I26M	possibly damaging	Het
Nlrp1a	T	A	11: 71,123,532	K297N	probably benign	Het
Obox5	T	C	7: 15,758,047	V129A	probably benign	Het
Pex16	C	T	2: 92,376,636	A53V	probably damaging	Het
Pfpl	T	C	19: 12,429,743	F453L	probably damaging	Het
Pip5k1b	G	T	19: 24,346,367	H406N	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Plcxd3	T	C	15: 4,516,640	F42S	possibly damaging	Het
Pnpla7	T	C	2: 25,050,276	F1056L	probably benign	Het
Rapgef1	T	C	2: 29,700,860		probably benign	Het
Rdh11	G	A	12: 79,185,336		probably benign	Het
Slc45a4	A	T	15: 73,586,815	M295K	probably benign	Het
Taf1c	T	C	8: 119,599,057	T689A	probably benign	Het
Timm10b	G	T	7: 105,668,438		probably benign	Het
Tnc	A	T	4: 63,965,579		probably benign	Het
Toporsl	T	C	4: 52,611,114	W336R	probably benign	Het
Usp54	C	A	14: 20,565,072		probably benign	Het
Vmn1r233	T	C	17: 20,994,029	R220G	probably damaging	Het

Other mutations in Serac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Serac1	APN	17	6074253	splice site	probably benign
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
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

Posted On

2015-04-16