Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Serac1'

35572

Institutional Source

Beutler Lab

Gene Symbol

Serac1

Ensembl Gene

ENSMUSG00000015659

Gene Name

serine active site containing 1

Synonyms

4930511N22Rik, D17Ertd141e

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0211 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6050060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 438 (R438S)

Ref Sequence

ENSEMBL: ENSMUSP00000024570 (fasta)

Gene Model

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

AlphaFold

Q3U213

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024570
AA Change: R438S

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: R438S

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

possibly damaging
Transcript: ENSMUST00000097432
AA Change: R468S

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: R468S

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

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,216,096	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,650,496	R219H	probably benign	Het
Abcc9	T	A	6: 142,688,984	I185F	probably benign	Het
Adgrf1	T	C	17: 43,296,690	L100P	probably damaging	Het
Akt1	T	C	12: 112,655,142	T407A	probably damaging	Het
Alk	C	T	17: 72,603,516	R65H	probably damaging	Het
Aplp2	T	C	9: 31,157,790	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,972,004	R1411C	probably damaging	Het
Arnt	T	A	3: 95,476,149	M242K	probably damaging	Het
Atad5	T	G	11: 80,095,647	V520G	probably benign	Het
Avpr1a	T	A	10: 122,449,469	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,730,788	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,688,266		probably null	Het
Ccdc51	T	C	9: 109,089,373	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,478,374	D1136E	possibly damaging	Het
Coil	T	A	11: 88,982,153	S447T	probably damaging	Het
Cryba1	T	A	11: 77,718,867	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,535,961	F277I	probably damaging	Het
Ddost	G	A	4: 138,309,602	V159M	probably damaging	Het
Dnajb6	T	C	5: 29,785,079		probably benign	Het
Dnase2a	A	G	8: 84,908,788		probably benign	Het
Dscam	T	C	16: 96,716,079	I877V	possibly damaging	Het
Dyx1c1	A	T	9: 72,961,367	R127S	possibly damaging	Het
Efcc1	A	T	6: 87,749,154	T312S	probably benign	Het
Ermard	A	T	17: 15,021,943	Q127L	probably damaging	Het
F2	T	C	2: 91,630,158	E329G	probably damaging	Het
Foxc2	T	A	8: 121,116,616	M1K	probably null	Het
Fuz	T	A	7: 44,899,022		probably null	Het
Ggnbp2	G	A	11: 84,840,313	T325M	probably damaging	Het
Gm6408	T	A	5: 146,483,060	F115I	probably benign	Het
Gm8909	T	C	17: 36,168,007	T117A	probably damaging	Het
Gp6	C	T	7: 4,373,209		probably null	Het
Grin2a	A	G	16: 9,579,173	S1017P	possibly damaging	Het
Hmmr	A	T	11: 40,714,808	M318K	probably damaging	Het
Ifi205	T	C	1: 174,028,428	E12G	probably benign	Het
Ift74	C	T	4: 94,679,255	T395I	probably benign	Het
Ikbkap	T	A	4: 56,795,545	I143F	probably damaging	Het
Irf8	A	T	8: 120,739,975	D53V	probably damaging	Het
Itgad	A	G	7: 128,204,641	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,194,613	R2084L	probably benign	Het
Krt4	C	A	15: 101,922,782	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,898,681	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,752,143		probably null	Het
Map4k3	C	T	17: 80,644,841	A179T	probably damaging	Het
Nck1	A	T	9: 100,497,767	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,939,282	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,571,912	E300A	probably damaging	Het
Nin	T	G	12: 70,014,875	T2072P	probably damaging	Het
Nop2	T	G	6: 125,141,344	L529R	probably damaging	Het
Nrm	T	A	17: 35,864,611	L203Q	probably damaging	Het
Nynrin	T	C	14: 55,871,798	F1454S	probably benign	Het
Olfr1062	A	C	2: 86,423,107	S190A	probably damaging	Het
Olfr1328	T	A	4: 118,934,270	M191L	probably benign	Het
Olfr1453	T	C	19: 13,028,282	T16A	possibly damaging	Het
Os9	A	G	10: 127,121,036	V27A	probably damaging	Het
Osbpl9	T	G	4: 109,073,124	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,414,006	M712L	probably benign	Het
Pcx	C	T	19: 4,620,199	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,033,667	V514A	possibly damaging	Het
Plin4	C	T	17: 56,102,242	G1326D	probably damaging	Het
Plxnb1	T	A	9: 109,103,663	Y568*	probably null	Het
Pmfbp1	T	A	8: 109,541,740	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,861,625	V70A	probably benign	Het
Prkar2b	C	A	12: 31,972,184	V201L	probably benign	Het
Rgr	T	G	14: 37,046,968	T37P	probably damaging	Het
Ripk3	A	T	14: 55,787,918	L63Q	probably damaging	Het
Rpusd2	A	G	2: 119,038,412	S439G	probably benign	Het
Slc19a1	T	A	10: 77,038,466	S24T	possibly damaging	Het
Slc6a21	A	C	7: 45,288,243	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spdef	C	T	17: 27,714,920	R309H	probably damaging	Het
Srp68	A	T	11: 116,265,551	Y84N	probably damaging	Het
Syne2	A	T	12: 76,097,957	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,661,913	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnk1	A	G	11: 69,855,181	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,777,484	I147F	probably damaging	Het
Tnni3k	C	T	3: 155,055,344		probably benign	Het
Togaram2	T	A	17: 71,729,248	V911D	probably damaging	Het
Tyw3	T	C	3: 154,587,495	N181S	probably damaging	Het
Unc79	T	A	12: 103,072,792	S682T	probably benign	Het
Vps13d	A	G	4: 145,114,778	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,893	A124E	probably damaging	Het
Zfp287	T	C	11: 62,714,917	H388R	probably damaging	Het
Zfp335	T	C	2: 164,907,692	T262A	probably damaging	Het
Zfp457	C	G	13: 67,293,147	G359R	probably benign	Het
Zfp536	T	A	7: 37,568,449	E514V	probably damaging	Het
Zfp872	T	A	9: 22,200,173	I316N	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
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
R0127:Serac1	UTSW	17	6048840	missense	probably damaging	1.00
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'- CCCTGACAACTACCTCATGATGGC -3'
(R):5'- AGGGGAACATTGGGAATCTTTGCTC -3'

Sequencing Primer
(F):5'- CTGTCTGTGAAGATGAGCCC -3'
(R):5'- GTCTGACCTGTACAAATTGCCAG -3'

Posted On

2013-05-09