Mutagenetix > Incidental Mutation

Incidental Mutation 'R3508:Apol8'

267490

Institutional Source

Beutler Lab

Gene Symbol

Apol8

Ensembl Gene

ENSMUSG00000056656

Gene Name

apolipoprotein L 8

Synonyms

9830006J20Rik, Apol2

MMRRC Submission

040664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77631998-77641203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77633643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 311 (E311G)

Ref Sequence

ENSEMBL: ENSMUSP00000086873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070911] [ENSMUST00000089450] [ENSMUST00000229332] [ENSMUST00000229445]

AlphaFold

A2VDH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000070911
AA Change: E311G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064237
Gene: ENSMUSG00000056656
AA Change: E311G

Domain	Start	End	E-Value	Type
Pfam:ApoL	26	333	2.5e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000089450
AA Change: E311G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086873
Gene: ENSMUSG00000056656
AA Change: E311G

Domain	Start	End	E-Value	Type
Pfam:ApoL	1	307	9.4e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229332

Predicted Effect

probably benign
Transcript: ENSMUST00000229445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230332

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,953,991 (GRCm39)	F816L	probably benign	Het
Adgrl3	C	A	5: 81,872,103 (GRCm39)	N932K	probably damaging	Het
Atad2b	G	A	12: 5,000,595 (GRCm39)		probably null	Het
Carmil1	A	G	13: 24,203,659 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,217,576 (GRCm39)	S332P	possibly damaging	Het
Cep162	A	G	9: 87,114,030 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,721,286 (GRCm39)	S2482C	unknown	Het
Cnpy1	T	C	5: 28,412,365 (GRCm39)	E107G	probably damaging	Het
Crtac1	C	T	19: 42,293,180 (GRCm39)	V310I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,789,402 (GRCm39)	I706T	probably damaging	Het
F12	T	C	13: 55,568,872 (GRCm39)	T297A	probably benign	Het
Fanci	A	G	7: 79,083,220 (GRCm39)	I736V	probably benign	Het
Fbn1	T	C	2: 125,148,247 (GRCm39)	N2667S	probably benign	Het
Flt4	T	C	11: 49,524,941 (GRCm39)	S596P	probably damaging	Het
Fndc1	G	A	17: 7,983,940 (GRCm39)	R1329*	probably null	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
H2-M10.1	T	G	17: 36,636,506 (GRCm39)	R99S	possibly damaging	Het
Homer3	T	A	8: 70,744,005 (GRCm39)	V243D	probably benign	Het
Hspa14	A	G	2: 3,492,045 (GRCm39)	S437P	probably damaging	Het
Inpp1	A	T	1: 52,838,550 (GRCm39)	I33N	probably damaging	Het
Ipo5	T	A	14: 121,176,956 (GRCm39)	Y714N	probably damaging	Het
Kif27	T	C	13: 58,461,026 (GRCm39)	E898G	possibly damaging	Het
Klhdc7b	T	A	15: 89,271,095 (GRCm39)	M1K	probably null	Het
Krt87	A	G	15: 101,386,039 (GRCm39)	Y241H	probably benign	Het
Mfsd4b1	A	G	10: 39,878,715 (GRCm39)	I394T	probably benign	Het
Micall1	A	G	15: 79,006,965 (GRCm39)	D264G	probably damaging	Het
Mms22l	T	G	4: 24,586,224 (GRCm39)	D905E	probably benign	Het
Musk	A	G	4: 58,327,347 (GRCm39)	D217G	probably damaging	Het
Napb	T	C	2: 148,540,880 (GRCm39)	T236A	probably benign	Het
Nbn	T	A	4: 15,962,387 (GRCm39)	D38E	probably damaging	Het
Ncaph	T	C	2: 126,969,113 (GRCm39)	N87D	probably benign	Het
Or4a78	A	G	2: 89,497,816 (GRCm39)	V138A	probably benign	Het
Pcdhb13	T	A	18: 37,576,204 (GRCm39)	V194E	probably damaging	Het
Pck1	T	C	2: 173,000,177 (GRCm39)	V536A	possibly damaging	Het
Pld5	C	T	1: 175,821,603 (GRCm39)	G188S	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Pnkd	A	G	1: 74,389,793 (GRCm39)	T306A	probably benign	Het
Ppm1k	T	C	6: 57,491,975 (GRCm39)	E279G	probably damaging	Het
Ppm1l	G	T	3: 69,456,813 (GRCm39)	K243N	possibly damaging	Het
Ppp1r13b	T	C	12: 111,838,801 (GRCm39)	T26A	probably damaging	Het
Rtel1	T	C	2: 180,964,202 (GRCm39)	V67A	probably benign	Het
Rxfp4	T	C	3: 88,559,899 (GRCm39)	E184G	probably damaging	Het
Scp2d1	A	G	2: 144,665,918 (GRCm39)	I86V	probably benign	Het
Sec16a	G	T	2: 26,315,862 (GRCm39)	P1718Q	probably damaging	Het
Sgcg	T	A	14: 61,459,195 (GRCm39)	T245S	probably benign	Het
Slc18a2	A	G	19: 59,261,989 (GRCm39)	T215A	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Sox17	G	T	1: 4,562,378 (GRCm39)	P146Q	probably damaging	Het
Spata31d1e	A	T	13: 59,890,319 (GRCm39)	Y500*	probably null	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Sybu	T	A	15: 44,536,478 (GRCm39)	E616V	probably damaging	Het
Tk2	C	T	8: 104,957,825 (GRCm39)	V174I	probably benign	Het
Tmc5	G	A	7: 118,244,618 (GRCm39)	V499I	probably benign	Het
Tonsl	T	C	15: 76,523,956 (GRCm39)	T15A	probably benign	Het
Ttll12	A	G	15: 83,464,831 (GRCm39)	I448T	probably damaging	Het
Ttn	A	G	2: 76,584,101 (GRCm39)	S22336P	probably damaging	Het
Ubap1	C	A	4: 41,379,163 (GRCm39)	H126N	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vmn2r84	T	C	10: 130,226,777 (GRCm39)	N354D	probably damaging	Het
Vpreb3	A	C	10: 75,785,037 (GRCm39)	H45P	probably benign	Het
Zc3h13	T	A	14: 75,546,380 (GRCm39)	Y160*	probably null	Het

Other mutations in Apol8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Apol8	APN	15	77,634,214 (GRCm39)	missense	probably damaging	1.00
IGL00569:Apol8	APN	15	77,634,255 (GRCm39)	missense	probably benign	0.01
IGL01955:Apol8	APN	15	77,633,899 (GRCm39)	missense	probably benign	0.01
R0677:Apol8	UTSW	15	77,634,051 (GRCm39)	missense	probably damaging	1.00
R0964:Apol8	UTSW	15	77,633,811 (GRCm39)	missense	probably benign	0.43
R1720:Apol8	UTSW	15	77,633,566 (GRCm39)	missense	possibly damaging	0.93
R6465:Apol8	UTSW	15	77,634,148 (GRCm39)	missense	probably benign	0.21
R6771:Apol8	UTSW	15	77,637,258 (GRCm39)	splice site	probably null
R7819:Apol8	UTSW	15	77,633,959 (GRCm39)	missense	probably damaging	1.00
R8113:Apol8	UTSW	15	77,634,336 (GRCm39)	missense	probably benign	0.00
R8511:Apol8	UTSW	15	77,634,273 (GRCm39)	missense	probably benign	0.00
R9012:Apol8	UTSW	15	77,634,324 (GRCm39)	missense	probably benign	0.06
R9644:Apol8	UTSW	15	77,633,695 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTCATGGGTCTGATTCCC -3'
(R):5'- TGTCCTACGGTGCATTGAGC -3'

Sequencing Primer
(F):5'- GGGTCTGATTCCCTCTCACAAAAATG -3'
(R):5'- ACCTCTGCCCAAAGTGGTAAG -3'

Posted On

2015-02-18