Mutagenetix > Incidental Mutation

Incidental Mutation 'R9012:Apol8'

685716

Institutional Source

Beutler Lab

Gene Symbol

Apol8

Ensembl Gene

ENSMUSG00000056656

Gene Name

apolipoprotein L 8

Synonyms

9830006J20Rik, Apol2

MMRRC Submission

068842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77631998-77641203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77634324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 84 (D84G)

Ref Sequence

ENSEMBL: ENSMUSP00000064237 (fasta)

Gene Model

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

AlphaFold

A2VDH7

Predicted Effect

probably benign
Transcript: ENSMUST00000070911
AA Change: D84G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064237
Gene: ENSMUSG00000056656
AA Change: D84G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089450
AA Change: D84G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086873
Gene: ENSMUSG00000056656
AA Change: D84G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	T	C	8: 125,290,954 (GRCm39)	N118D	probably benign	Het
Arl6ip5	T	A	6: 97,187,838 (GRCm39)	D19E	probably benign	Het
B3gnt3	G	T	8: 72,145,673 (GRCm39)	H232N	probably damaging	Het
Btbd10	T	C	7: 112,921,964 (GRCm39)	K347R	probably damaging	Het
Capn5	C	T	7: 97,814,050 (GRCm39)		probably benign	Het
Ccdc181	C	T	1: 164,110,062 (GRCm39)	R390W	probably damaging	Het
Cdc42bpa	T	C	1: 179,859,077 (GRCm39)	V93A		Het
Cfap91	T	C	16: 38,122,335 (GRCm39)	E712G	probably damaging	Het
Clcn1	A	G	6: 42,268,567 (GRCm39)	I191V	possibly damaging	Het
Coro1c	T	C	5: 113,988,737 (GRCm39)	D202G	probably damaging	Het
Cul9	A	G	17: 46,854,447 (GRCm39)	I85T	probably benign	Het
Cyp2c55	C	T	19: 39,030,560 (GRCm39)	T464I	probably benign	Het
Dlgap1	G	A	17: 70,823,182 (GRCm39)	E56K	possibly damaging	Het
Dnajc6	T	C	4: 101,470,156 (GRCm39)	F298L	probably damaging	Het
E130311K13Rik	A	T	3: 63,822,934 (GRCm39)	W237R	probably damaging	Het
Efcab3	G	A	11: 104,711,347 (GRCm39)		probably null	Het
Fes	T	A	7: 80,032,884 (GRCm39)	D287V	possibly damaging	Het
Fstl5	G	T	3: 76,567,027 (GRCm39)	W557L	probably damaging	Het
Gad2	A	G	2: 22,580,263 (GRCm39)	N555D	possibly damaging	Het
Gm10277	C	T	11: 77,676,848 (GRCm39)	R41K	unknown	Het
Gm21834	T	C	17: 58,049,162 (GRCm39)	E18G	probably null	Het
Hnrnpul2	T	C	19: 8,801,829 (GRCm39)	F346L	possibly damaging	Het
Hspa4	A	T	11: 53,159,402 (GRCm39)	V524E	probably benign	Het
Ikbke	T	C	1: 131,201,190 (GRCm39)	I207V	probably damaging	Het
Iqsec3	T	C	6: 121,389,996 (GRCm39)	I492V	unknown	Het
Itsn1	C	A	16: 91,645,849 (GRCm39)	F846L	unknown	Het
Ldhal6b	A	T	17: 5,467,942 (GRCm39)	Y331N	probably damaging	Het
Lrrc37a	T	G	11: 103,389,978 (GRCm39)	T1816P	probably benign	Het
Lzts1	C	T	8: 69,593,550 (GRCm39)	R19H	probably damaging	Het
Mast4	T	A	13: 102,934,606 (GRCm39)	T338S	probably benign	Het
Mst1r	A	G	9: 107,791,960 (GRCm39)	E832G	probably benign	Het
Myom1	T	G	17: 71,407,103 (GRCm39)	D1173E	probably benign	Het
Nlrp9c	T	A	7: 26,074,733 (GRCm39)	I821F	probably benign	Het
Obscn	T	C	11: 59,021,423 (GRCm39)	K806E	probably benign	Het
Or2ag13	T	C	7: 106,313,115 (GRCm39)	M258V	probably benign	Het
Or4c120	A	G	2: 89,000,929 (GRCm39)	I209T	possibly damaging	Het
Or6c215	A	C	10: 129,637,471 (GRCm39)	S308A	probably benign	Het
Palld	T	A	8: 62,173,697 (GRCm39)	S321C	possibly damaging	Het
Pank4	C	A	4: 155,062,847 (GRCm39)		probably benign	Het
Prr35	A	G	17: 26,166,685 (GRCm39)	L284P	probably benign	Het
Psg26	T	A	7: 18,216,596 (GRCm39)	H81L	probably benign	Het
Ptprq	C	T	10: 107,489,411 (GRCm39)	E905K	probably benign	Het
Siglecg	T	A	7: 43,060,523 (GRCm39)	L301Q	probably damaging	Het
Slc25a15	A	G	8: 22,867,878 (GRCm39)	W301R	probably benign	Het
Slco1b2	T	A	6: 141,602,554 (GRCm39)	V169D	probably damaging	Het
Sned1	T	C	1: 93,212,320 (GRCm39)	V1174A	probably damaging	Het
Sorl1	A	G	9: 41,982,491 (GRCm39)	V363A	probably damaging	Het
Sppl3	C	A	5: 115,226,987 (GRCm39)	P239T	probably benign	Het
Stox1	A	T	10: 62,500,611 (GRCm39)	S650T	probably benign	Het
Tbc1d9b	A	G	11: 50,040,688 (GRCm39)	T402A	probably benign	Het
Tmem104	A	T	11: 115,092,144 (GRCm39)	E84D	probably benign	Het
Tox4	T	C	14: 52,523,208 (GRCm39)	V56A	probably benign	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Treml2	A	G	17: 48,615,090 (GRCm39)	T192A	possibly damaging	Het
Vmn2r110	T	C	17: 20,803,627 (GRCm39)	D316G	probably damaging	Het
Vmn2r5	A	T	3: 64,411,915 (GRCm39)	W218R	probably damaging	Het
Vwa3b	A	G	1: 37,124,391 (GRCm39)	S330G	probably benign	Het
Wdr81	A	G	11: 75,339,971 (GRCm39)	V220A	possibly damaging	Het
Zbbx	A	G	3: 74,968,960 (GRCm39)	S504P	possibly damaging	Het
Zfp68	A	T	5: 138,605,283 (GRCm39)	C347S	probably damaging	Het
Zfp936	T	A	7: 42,839,416 (GRCm39)	C294*	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
R3508:Apol8	UTSW	15	77,633,643 (GRCm39)	missense	probably damaging	0.97
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
R9644:Apol8	UTSW	15	77,633,695 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTACCAGACTGATCCCAGC -3'
(R):5'- GGGCAGACTACATGTTATGGAAC -3'

Sequencing Primer
(F):5'- AGACTGATCCCAGCTGTCACG -3'
(R):5'- AGGGCCCCATGTGTATTAGGC -3'

Posted On

2021-10-11