Mutagenetix > Incidental Mutation

Incidental Mutation 'R6867:Apold1'

535971

Institutional Source

Beutler Lab

Gene Symbol

Apold1

Ensembl Gene

ENSMUSG00000090698

Gene Name

apolipoprotein L domain containing 1

Synonyms

LOC381823

MMRRC Submission

045028-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R6867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134958964-134963799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134961019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 158 (S158P)

Ref Sequence

ENSEMBL: ENSMUSP00000132366 (fasta)

Gene Model

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

AlphaFold

E9Q0X2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167323
AA Change: S158P

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132366
Gene: ENSMUSG00000090698
AA Change: S158P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cep162	A	T	9: 87,099,134 (GRCm39)	L788*	probably null	Het
Cyp7b1	T	C	3: 18,151,394 (GRCm39)	Y273C	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dock10	A	T	1: 80,508,976 (GRCm39)	I1605K	probably damaging	Het
Enox1	T	C	14: 77,936,739 (GRCm39)		probably null	Het
F3	T	C	3: 121,523,020 (GRCm39)	S77P	possibly damaging	Het
Fam186a	T	A	15: 99,843,731 (GRCm39)	I838L	unknown	Het
Flrt2	T	C	12: 95,746,156 (GRCm39)	F165L	probably damaging	Het
Gcgr	T	A	11: 120,427,295 (GRCm39)	V135E	possibly damaging	Het
Gm6741	T	C	17: 91,544,339 (GRCm39)	L34P	probably benign	Het
Gna13	T	C	11: 109,286,948 (GRCm39)	M257T	possibly damaging	Het
Hsd11b2	G	A	8: 106,248,949 (GRCm39)	R147H	probably benign	Het
Hydin	A	G	8: 111,266,434 (GRCm39)	Y2865C	probably benign	Het
Igdcc3	A	G	9: 65,090,320 (GRCm39)	N610D	probably damaging	Het
Ipp	T	A	4: 116,367,606 (GRCm39)		probably null	Het
Kdm5d	A	G	Y: 927,425 (GRCm39)	T682A	probably benign	Het
Megf8	A	G	7: 25,030,460 (GRCm39)	Y471C	probably benign	Het
Mprip	T	C	11: 59,640,456 (GRCm39)		probably null	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myrfl	T	A	10: 116,684,187 (GRCm39)	R179*	probably null	Het
Nek1	C	A	8: 61,525,364 (GRCm39)	Q601K	possibly damaging	Het
Neurod4	C	G	10: 130,106,583 (GRCm39)	K230N	probably damaging	Het
Or1ab2	C	T	8: 72,863,707 (GRCm39)	T99I	possibly damaging	Het
Or8u10	A	G	2: 85,916,082 (GRCm39)	I13T	possibly damaging	Het
Orc3	A	G	4: 34,605,539 (GRCm39)	L114P	probably damaging	Het
Rag1	T	C	2: 101,472,292 (GRCm39)	D950G	probably damaging	Het
Rasgrp2	G	A	19: 6,463,213 (GRCm39)	S504N	probably benign	Het
Rgl2	A	G	17: 34,151,661 (GRCm39)	D235G	probably benign	Het
Slc35e2	A	G	4: 155,703,157 (GRCm39)	E390G	probably benign	Het
Slc39a1	T	A	3: 90,156,759 (GRCm39)	V105E	probably damaging	Het
Tesk2	T	A	4: 116,658,995 (GRCm39)	C291S	probably damaging	Het
Tmco3	T	A	8: 13,363,927 (GRCm39)	F83Y	probably damaging	Het
Trim25	T	C	11: 88,901,713 (GRCm39)	I336T	probably benign	Het
Ush2a	A	G	1: 188,643,170 (GRCm39)	I4177M	probably damaging	Het
Veph1	T	A	3: 66,162,458 (GRCm39)	T67S	probably damaging	Het
Vmn2r43	A	G	7: 8,258,125 (GRCm39)	F363L	probably benign	Het
Vps28	A	T	15: 76,506,871 (GRCm39)	I109N	probably damaging	Het
Vps50	A	G	6: 3,517,835 (GRCm39)	D91G	probably benign	Het
Wdr20	T	C	12: 110,760,133 (GRCm39)	F340L	probably benign	Het
Wdr95	A	G	5: 149,504,388 (GRCm39)		probably null	Het
Zfand6	A	G	7: 84,265,122 (GRCm39)	V193A	probably damaging	Het
Zfp703	C	A	8: 27,468,668 (GRCm39)	P111T	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
R5275:Apold1	UTSW	6	134,960,763 (GRCm39)	missense	probably damaging	1.00
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
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'- ATCGTGGGGTTGTCACTCAG -3'
(R):5'- CTCACTAAGTTCATCCAGGGC -3'

Sequencing Primer
(F):5'- AGGGGCAGTCACCATCAC -3'
(R):5'- TAAGTTCATCCAGGGCGCCAG -3'

Posted On

2018-10-18