Mutagenetix > Incidental Mutation

Incidental Mutation 'R5275:Apold1'

403881

Institutional Source

Beutler Lab

Gene Symbol

Apold1

Ensembl Gene

ENSMUSG00000090698

Gene Name

apolipoprotein L domain containing 1

Synonyms

LOC381823

MMRRC Submission

042838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R5275 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

134958964-134963799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134960763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 72 (L72F)

Ref Sequence

ENSEMBL: ENSMUSP00000132366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167323]

AlphaFold

E9Q0X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000167323
AA Change: L72F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132366
Gene: ENSMUSG00000090698
AA Change: L72F

Domain	Start	End	E-Value	Type
Pfam:ApoL	16	143	1.5e-16	PFAM
coiled coil region	192	220	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,092,856 (GRCm39)	R155H	probably benign	Het
Abcc1	C	T	16: 14,284,050 (GRCm39)	L1222F	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Becn2	A	G	1: 175,748,336 (GRCm39)	H134R	probably benign	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Chd6	A	G	2: 160,811,283 (GRCm39)	L1440P	probably benign	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Cma1	A	T	14: 56,179,157 (GRCm39)	I233N	probably damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Dst	T	C	1: 34,219,229 (GRCm39)	S1890P	probably benign	Het
Ears2	T	C	7: 121,647,421 (GRCm39)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
Gm5117	T	A	8: 32,229,595 (GRCm39)		noncoding transcript	Het
H2-T5	T	C	17: 36,472,567 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Opa1	C	T	16: 29,430,397 (GRCm39)	T451I	probably damaging	Het
Or2bd2	A	T	7: 6,443,015 (GRCm39)	T39S	probably benign	Het
Or4f15	T	A	2: 111,814,174 (GRCm39)	I82F	probably damaging	Het
Or4k1	T	A	14: 50,377,953 (GRCm39)	I48F	probably benign	Het
Pcdh12	T	A	18: 38,417,154 (GRCm39)		probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Ppan	T	A	9: 20,801,069 (GRCm39)	Y115*	probably null	Het
Prb1c	T	G	6: 132,338,840 (GRCm39)	Q126P	unknown	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Ptpn20	A	G	14: 33,353,149 (GRCm39)	H296R	probably benign	Het
Rergl	A	G	6: 139,478,819 (GRCm39)		probably null	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,462,372 (GRCm39)	H409L	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Slc24a5	C	T	2: 124,927,781 (GRCm39)	T360I	probably benign	Het
Snx6	T	C	12: 54,830,807 (GRCm39)	H51R	probably damaging	Het
Sorl1	A	T	9: 41,942,198 (GRCm39)	V1009D	probably benign	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,018,346 (GRCm39)	L1255*	probably null	Het
Tlk1	C	T	2: 70,582,549 (GRCm39)		probably benign	Het
Tnc	G	A	4: 63,882,967 (GRCm39)	Q1885*	probably null	Het
Vcl	T	C	14: 21,060,146 (GRCm39)	V595A	probably damaging	Het
Vmn1r84	A	T	7: 12,095,741 (GRCm39)	N305K	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	probably damaging	Het

Other mutations in Apold1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0581:Apold1	UTSW	6	134,960,776 (GRCm39)	missense	probably benign	0.00
R4013:Apold1	UTSW	6	134,960,869 (GRCm39)	missense	probably benign
R4016:Apold1	UTSW	6	134,960,869 (GRCm39)	missense	probably benign
R4017:Apold1	UTSW	6	134,960,869 (GRCm39)	missense	probably benign
R4599:Apold1	UTSW	6	134,961,032 (GRCm39)	missense	probably damaging	1.00
R4909:Apold1	UTSW	6	134,960,558 (GRCm39)	missense	probably benign	0.00
R5154:Apold1	UTSW	6	134,960,636 (GRCm39)	missense	possibly damaging	0.62
R5850:Apold1	UTSW	6	134,961,058 (GRCm39)	missense	probably damaging	0.99
R5958:Apold1	UTSW	6	134,960,686 (GRCm39)	missense	probably damaging	1.00
R6802:Apold1	UTSW	6	134,960,693 (GRCm39)	missense	probably damaging	1.00
R6867:Apold1	UTSW	6	134,961,019 (GRCm39)	missense	possibly damaging	0.60
R7012:Apold1	UTSW	6	134,961,007 (GRCm39)	missense	probably damaging	1.00
R8223:Apold1	UTSW	6	134,961,148 (GRCm39)	missense	probably benign	0.00
R9347:Apold1	UTSW	6	134,960,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAACTGTGCGTCTATGTCCC -3'
(R):5'- AACTCCAGGCAGCTCAGAAG -3'

Sequencing Primer
(F):5'- GTGCGTCTATGTCCCTCACAGG -3'
(R):5'- TCAGAAGCTCGCGCATC -3'

Posted On

2016-07-22