Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Serac1'

36198

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

MMRRC Submission

038483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0245 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

6092471-6130016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6102031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 384 (D384E)

Ref Sequence

ENSEMBL: ENSMUSP00000024570 (fasta)

Gene Model

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

AlphaFold

Q3U213

Predicted Effect

probably damaging
Transcript: ENSMUST00000024570
AA Change: D384E

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

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: D384E

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: D414E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: D414E

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: ENSMUST00000144284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153325

Meta Mutation Damage Score

0.3887

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Asic3	C	A	5: 24,618,836 (GRCm39)	R43S	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,519,517 (GRCm39)	D56V	probably benign	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fah	A	C	7: 84,244,706 (GRCm39)	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fdps	A	G	3: 89,001,078 (GRCm39)	S334P	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,016,094 (GRCm39)	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or4k52	A	G	2: 111,610,680 (GRCm39)	N5S	probably damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	probably 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
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
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'- GGATCACAAGCCCCGCTGATAATG -3'
(R):5'- ATGTCACGTCAGCCTGCTAAAGCC -3'

Sequencing Primer
(F):5'- TGAATGTCTCCAAGAGCAAGC -3'
(R):5'- CCCTCCAAAGAGAATGCTGTG -3'

Posted On

2013-05-09