Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:Apol6'

502595

Institutional Source

Beutler Lab

Gene Symbol

Apol6

Ensembl Gene

ENSMUSG00000033576

Gene Name

apolipoprotein L 6

Synonyms

MMRRC Submission

044331-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77044729-77057106 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77055898 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 307 (V307A)

Ref Sequence

ENSEMBL: ENSMUSP00000120866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127957] [ENSMUST00000142405] [ENSMUST00000149569] [ENSMUST00000152949]

Predicted Effect

probably benign
Transcript: ENSMUST00000127957

SMART Domains

Protein: ENSMUSP00000118257
Gene: ENSMUSG00000033576

Domain	Start	End	E-Value	Type
Pfam:ApoL	15	290	4.1e-76	PFAM
transmembrane domain	294	311	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139304

Predicted Effect

probably benign
Transcript: ENSMUST00000142405

SMART Domains

Protein: ENSMUSP00000117135
Gene: ENSMUSG00000033576

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149569
AA Change: V307A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120866
Gene: ENSMUSG00000033576
AA Change: V307A

Domain	Start	End	E-Value	Type
Pfam:ApoL	10	290	7e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152949

SMART Domains

Protein: ENSMUSP00000121308
Gene: ENSMUSG00000033576

Domain	Start	End	E-Value	Type
Pfam:ApoL	10	263	2.7e-87	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ano6	T	C	15: 95,948,499		probably null	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
C8a	T	C	4: 104,845,903	K363R	probably benign	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Mtcl1	C	T	17: 66,343,526	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nr5a2	T	C	1: 136,890,798	D330G	probably damaging	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
Pxdn	A	T	12: 29,982,717	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,484,515	S569P	probably damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Robo1	T	C	16: 72,933,808	S266P	probably benign	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Usp53	T	A	3: 122,949,741	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably damaging	Het

Other mutations in Apol6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Apol6	APN	15	77050716	missense	probably damaging	1.00
IGL01788:Apol6	APN	15	77051016	missense	possibly damaging	0.81
FR4304:Apol6	UTSW	15	77051436	frame shift	probably null
FR4449:Apol6	UTSW	15	77051443	nonsense	probably null
FR4548:Apol6	UTSW	15	77051445	frame shift	probably null
FR4589:Apol6	UTSW	15	77051438	frame shift	probably null
FR4737:Apol6	UTSW	15	77051442	frame shift	probably null
R0350:Apol6	UTSW	15	77050947	nonsense	probably null
R1167:Apol6	UTSW	15	77047108	nonsense	probably null
R1906:Apol6	UTSW	15	77050860	missense	probably damaging	0.99
R1996:Apol6	UTSW	15	77050756	missense	probably benign	0.28
R2097:Apol6	UTSW	15	77047133	critical splice donor site	probably null
R5611:Apol6	UTSW	15	77051040	splice site	probably null
R5980:Apol6	UTSW	15	77051019	missense	possibly damaging	0.66
R6300:Apol6	UTSW	15	77051271	missense	probably benign	0.01
R6519:Apol6	UTSW	15	77051276	nonsense	probably null
R7569:Apol6	UTSW	15	77050698	unclassified	probably benign
R8072:Apol6	UTSW	15	77051103	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AAGTTAGAGGCTCTCCTTCCC -3'
(R):5'- TTTAGACCCTGGGGAACTCC -3'

Sequencing Primer
(F):5'- AAGCTGGCCTTGAACTCTCAG -3'
(R):5'- GGAACTCCCTGGCACCTC -3'

Posted On

2018-02-27