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

6042196-6079741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6065076 bp (GRCm38)

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: 110,074,142 (GRCm38)	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373 (GRCm38)	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946 (GRCm38)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615 (GRCm38)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053 (GRCm38)	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208 (GRCm38)	D70G	probably benign	Het
Castor2	C	A	5: 134,135,190 (GRCm38)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,352,877 (GRCm38)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278 (GRCm38)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399 (GRCm38)	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412 (GRCm38)	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341 (GRCm38)		probably null	Het
Ctf2	T	A	7: 127,719,304 (GRCm38)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395 (GRCm38)	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625 (GRCm38)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,806,788 (GRCm38)	R258L	unknown	Het
Dnah9	T	A	11: 65,855,372 (GRCm38)	K3972*	probably null	Het
Dnai4	G	A	4: 103,096,616 (GRCm38)	P129S	probably benign	Het
Dusp7	T	A	9: 106,368,915 (GRCm38)	S40T	unknown	Het
Emg1	T	C	6: 124,705,749 (GRCm38)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043 (GRCm38)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980 (GRCm38)	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861 (GRCm38)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408 (GRCm38)	G190R	probably damaging	Het
Gdf15	T	G	8: 70,631,342 (GRCm38)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010 (GRCm38)	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415 (GRCm38)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719 (GRCm38)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778 (GRCm38)	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640 (GRCm38)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696 (GRCm38)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709 (GRCm38)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489 (GRCm38)	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785 (GRCm38)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454 (GRCm38)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467 (GRCm38)	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872 (GRCm38)	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771 (GRCm38)	A131V	probably benign	Het
Neb	A	T	2: 52,271,592 (GRCm38)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720 (GRCm38)	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046 (GRCm38)	N8S	probably benign	Het
Opalin	T	A	19: 41,069,935 (GRCm38)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,890,649 (GRCm38)	H175Q	probably benign	Het
Pask	C	T	1: 93,310,905 (GRCm38)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663 (GRCm38)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214 (GRCm38)	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525 (GRCm38)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112 (GRCm38)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363 (GRCm38)	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627 (GRCm38)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090 (GRCm38)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500 (GRCm38)	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433 (GRCm38)	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441 (GRCm38)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732 (GRCm38)	I89V	probably benign	Het
Serpinb3c	T	C	1: 107,273,162 (GRCm38)	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547 (GRCm38)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383 (GRCm38)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245 (GRCm38)		probably benign	Het
Spats1	T	A	17: 45,449,169 (GRCm38)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603 (GRCm38)	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955 (GRCm38)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm38)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm38)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746 (GRCm38)	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920 (GRCm38)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536 (GRCm38)	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244 (GRCm38)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280 (GRCm38)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130 (GRCm38)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,244,083 (GRCm38)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441 (GRCm38)	L173P	probably benign	Het

Other mutations in Serac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Serac1	APN	17	6,074,253 (GRCm38)	splice site	probably benign
IGL02642:Serac1	APN	17	6,045,746 (GRCm38)	missense	possibly damaging	0.56
IGL02972:Serac1	APN	17	6,070,764 (GRCm38)	nonsense	probably null
FR4304:Serac1	UTSW	17	6,070,808 (GRCm38)	missense	probably damaging	1.00
FR4340:Serac1	UTSW	17	6,070,808 (GRCm38)	missense	probably damaging	1.00
FR4342:Serac1	UTSW	17	6,070,808 (GRCm38)	missense	probably damaging	1.00
FR4589:Serac1	UTSW	17	6,070,808 (GRCm38)	missense	probably damaging	1.00
PIT4480001:Serac1	UTSW	17	6,050,812 (GRCm38)	missense	probably damaging	1.00
R0076:Serac1	UTSW	17	6,064,937 (GRCm38)	splice site	probably benign
R0076:Serac1	UTSW	17	6,064,937 (GRCm38)	splice site	probably benign
R0127:Serac1	UTSW	17	6,048,840 (GRCm38)	missense	probably damaging	1.00
R0211:Serac1	UTSW	17	6,050,060 (GRCm38)	missense	possibly damaging	0.67
R0245:Serac1	UTSW	17	6,051,756 (GRCm38)	missense	probably damaging	1.00
R0538:Serac1	UTSW	17	6,048,826 (GRCm38)	splice site	probably benign
R0652:Serac1	UTSW	17	6,051,756 (GRCm38)	missense	probably damaging	1.00
R0988:Serac1	UTSW	17	6,061,580 (GRCm38)	missense	probably benign	0.02
R1965:Serac1	UTSW	17	6,048,999 (GRCm38)	missense	possibly damaging	0.72
R1984:Serac1	UTSW	17	6,045,689 (GRCm38)	splice site	probably null
R2145:Serac1	UTSW	17	6,050,785 (GRCm38)	missense	probably damaging	1.00
R3426:Serac1	UTSW	17	6,066,778 (GRCm38)	missense	probably benign	0.04
R3921:Serac1	UTSW	17	6,066,792 (GRCm38)	missense	probably damaging	1.00
R4760:Serac1	UTSW	17	6,051,790 (GRCm38)	missense	possibly damaging	0.69
R4958:Serac1	UTSW	17	6,069,382 (GRCm38)	missense	probably benign	0.15
R5552:Serac1	UTSW	17	6,056,692 (GRCm38)	nonsense	probably null
R5874:Serac1	UTSW	17	6,043,913 (GRCm38)	unclassified	probably benign
R5964:Serac1	UTSW	17	6,065,049 (GRCm38)	missense	probably benign
R6614:Serac1	UTSW	17	6,045,662 (GRCm38)	missense	probably damaging	1.00
R6794:Serac1	UTSW	17	6,051,710 (GRCm38)	missense	probably damaging	1.00
R6949:Serac1	UTSW	17	6,051,815 (GRCm38)	missense	probably damaging	1.00
R7157:Serac1	UTSW	17	6,074,201 (GRCm38)	missense	probably benign
R7426:Serac1	UTSW	17	6,069,314 (GRCm38)	missense	probably damaging	1.00
R8270:Serac1	UTSW	17	6,050,758 (GRCm38)	missense	probably damaging	1.00
R8733:Serac1	UTSW	17	6,050,028 (GRCm38)	missense	probably damaging	1.00
R8785:Serac1	UTSW	17	6,044,202 (GRCm38)	missense	probably damaging	0.99
R9057:Serac1	UTSW	17	6,061,615 (GRCm38)	missense	probably damaging	0.98
R9657:Serac1	UTSW	17	6,069,383 (GRCm38)	missense	probably benign	0.04
Z1088:Serac1	UTSW	17	6,048,918 (GRCm38)	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