Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Apol6'

481400

Institutional Source

Beutler Lab

Gene Symbol

Apol6

Ensembl Gene

ENSMUSG00000033576

Gene Name

apolipoprotein L 6

Synonyms

2310076O14Rik

MMRRC Submission

044162-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76929195-76941308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76935219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 163 (T163S)

Ref Sequence

ENSEMBL: ENSMUSP00000120866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127957] [ENSMUST00000129468] [ENSMUST00000142405] [ENSMUST00000149569] [ENSMUST00000152949] [ENSMUST00000166179] [ENSMUST00000229423]

AlphaFold

B7ZC55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127957
AA Change: T163S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118257
Gene: ENSMUSG00000033576
AA Change: T163S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129468

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

noncoding transcript
Transcript: ENSMUST00000148197

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149569
AA Change: T163S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120866
Gene: ENSMUSG00000033576
AA Change: T163S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152949
AA Change: T163S

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121308
Gene: ENSMUSG00000033576
AA Change: T163S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166179

SMART Domains

Protein: ENSMUSP00000128399
Gene: ENSMUSG00000018893

Domain	Start	End	E-Value	Type
Pfam:Globin	7	113	1.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229423

Meta Mutation Damage Score

0.1336

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,544,018 (GRCm39)	N508D	possibly damaging	Het
Ago1	C	T	4: 126,354,362 (GRCm39)		probably benign	Het
Arhgap27	T	C	11: 103,247,095 (GRCm39)	T33A	probably benign	Het
Atg7	C	A	6: 114,657,197 (GRCm39)	F132L	possibly damaging	Het
Cep104	C	A	4: 154,072,930 (GRCm39)	A396E	probably benign	Het
Cers4	T	A	8: 4,568,269 (GRCm39)	C107*	probably null	Het
Cntn6	T	C	6: 104,825,093 (GRCm39)	S878P	probably damaging	Het
Dnah6	T	C	6: 73,158,705 (GRCm39)	K633E	probably benign	Het
Dst	T	A	1: 34,221,972 (GRCm39)	I2592K	probably benign	Het
Ep400	G	A	5: 110,881,595 (GRCm39)		probably benign	Het
Fbn1	A	G	2: 125,157,324 (GRCm39)	C2320R	probably damaging	Het
Gpi1	A	G	7: 33,928,351 (GRCm39)		probably null	Het
Gse1	T	G	8: 120,956,376 (GRCm39)		probably benign	Het
Hid1	G	A	11: 115,241,774 (GRCm39)	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,315,295 (GRCm39)	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,657,573 (GRCm39)	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,496,009 (GRCm39)	V5A	probably benign	Het
Irgq	G	A	7: 24,232,770 (GRCm39)	G204S	probably damaging	Het
Kansl1	T	C	11: 104,234,463 (GRCm39)	K681R	possibly damaging	Het
Kcnv1	C	A	15: 44,972,810 (GRCm39)	V358L	probably damaging	Het
Lrp2	A	T	2: 69,365,349 (GRCm39)	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,045,219 (GRCm39)	D155V	probably damaging	Het
Magel2	A	T	7: 62,030,344 (GRCm39)	I1083F	unknown	Het
Mta3	T	A	17: 84,015,834 (GRCm39)	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,494,977 (GRCm39)	I423T	probably damaging	Het
Mup11	A	G	4: 60,616,887 (GRCm39)	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,804,889 (GRCm39)	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509 (GRCm38)	Q72P	possibly damaging	Het
Nol4	T	A	18: 23,085,258 (GRCm39)	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,618,416 (GRCm39)	V808A	probably damaging	Het
Or10p22	A	G	10: 128,826,309 (GRCm39)	H176R	probably damaging	Het
Or5ak23	A	T	2: 85,244,509 (GRCm39)	F238Y	probably damaging	Het
Or8k24	A	T	2: 86,216,141 (GRCm39)	L207*	probably null	Het
Pate10	A	C	9: 35,652,911 (GRCm39)	D51A	probably damaging	Het
Pik3c2b	C	A	1: 133,016,046 (GRCm39)	D869E	probably benign	Het
Pom121l2	T	C	13: 22,167,546 (GRCm39)	S606P	probably damaging	Het
Prdm15	G	A	16: 97,613,770 (GRCm39)	R517*	probably null	Het
Ralgapa1	T	A	12: 55,817,401 (GRCm39)		probably null	Het
Saraf	T	A	8: 34,632,541 (GRCm39)	F207I	probably benign	Het
Sema6d	A	G	2: 124,506,628 (GRCm39)	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,190,411 (GRCm39)	L14M	unknown	Het
Sidt1	A	T	16: 44,083,675 (GRCm39)	C485*	probably null	Het
Sptbn4	A	G	7: 27,071,596 (GRCm39)	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,662,716 (GRCm39)	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Ticrr	G	A	7: 79,310,703 (GRCm39)	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,861,662 (GRCm39)	I820F	probably benign	Het
Trafd1	A	G	5: 121,511,520 (GRCm39)	Y433H	probably damaging	Het
Trim68	A	G	7: 102,328,038 (GRCm39)	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,514,480 (GRCm39)	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,626 (GRCm39)	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,661,624 (GRCm39)	I457V	probably benign	Het

Other mutations in Apol6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Apol6	APN	15	76,934,916 (GRCm39)	missense	probably damaging	1.00
IGL01788:Apol6	APN	15	76,935,216 (GRCm39)	missense	possibly damaging	0.81
FR4304:Apol6	UTSW	15	76,935,636 (GRCm39)	frame shift	probably null
FR4449:Apol6	UTSW	15	76,935,643 (GRCm39)	nonsense	probably null
FR4548:Apol6	UTSW	15	76,935,645 (GRCm39)	frame shift	probably null
FR4589:Apol6	UTSW	15	76,935,638 (GRCm39)	frame shift	probably null
FR4737:Apol6	UTSW	15	76,935,642 (GRCm39)	frame shift	probably null
R0350:Apol6	UTSW	15	76,935,147 (GRCm39)	nonsense	probably null
R1167:Apol6	UTSW	15	76,931,308 (GRCm39)	nonsense	probably null
R1906:Apol6	UTSW	15	76,935,060 (GRCm39)	missense	probably damaging	0.99
R1996:Apol6	UTSW	15	76,934,956 (GRCm39)	missense	probably benign	0.28
R2097:Apol6	UTSW	15	76,931,333 (GRCm39)	critical splice donor site	probably null
R5611:Apol6	UTSW	15	76,935,240 (GRCm39)	splice site	probably null
R6191:Apol6	UTSW	15	76,940,098 (GRCm39)	missense	probably benign	0.00
R6300:Apol6	UTSW	15	76,935,471 (GRCm39)	missense	probably benign	0.01
R6519:Apol6	UTSW	15	76,935,476 (GRCm39)	nonsense	probably null
R7569:Apol6	UTSW	15	76,934,898 (GRCm39)	unclassified	probably benign
R8072:Apol6	UTSW	15	76,935,303 (GRCm39)	missense	probably benign	0.03
R9010:Apol6	UTSW	15	76,935,697 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACTACCTCTGCATCAGTCG -3'
(R):5'- AGGCCTTTTGTACCTGCCTG -3'

Sequencing Primer
(F):5'- GTTTGGCCCTGGCTACAACAAC -3'
(R):5'- TGCCACTTCGAGCTGATACGTG -3'

Posted On

2017-06-26