Mutagenetix > Incidental Mutation

Incidental Mutation 'R5850:Apold1'

454616

Institutional Source

Beutler Lab

Gene Symbol

Apold1

Ensembl Gene

ENSMUSG00000090698

Gene Name

apolipoprotein L domain containing 1

Synonyms

LOC381823

MMRRC Submission

043226-MU

Accession Numbers

Essential gene?

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

Stock #

R5850 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134958964-134963799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134961058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 171 (F171L)

Ref Sequence

ENSEMBL: ENSMUSP00000132366 (fasta)

Gene Model

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

AlphaFold

E9Q0X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000167323
AA Change: F171L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132366
Gene: ENSMUSG00000090698
AA Change: F171L

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Abhd14a	A	C	9: 106,317,548 (GRCm39)	L225R	probably damaging	Het
Apbb1	A	G	7: 105,216,790 (GRCm39)	S39P	probably damaging	Het
Apc	T	C	18: 34,451,116 (GRCm39)	S2637P	possibly damaging	Het
Ascc3	T	C	10: 50,587,049 (GRCm39)	M967T	probably damaging	Het
Atf7ip	T	C	6: 136,543,785 (GRCm39)		probably null	Het
Bcl2l15	T	A	3: 103,743,432 (GRCm39)	V111D	possibly damaging	Het
Bsn	A	T	9: 107,992,149 (GRCm39)	M1201K	probably damaging	Het
Ccdc141	T	A	2: 76,859,747 (GRCm39)	N965Y	probably damaging	Het
Cnn3	T	C	3: 121,245,577 (GRCm39)	Y98H	probably damaging	Het
Cnot1	G	A	8: 96,460,775 (GRCm39)	R117*	probably null	Het
Dlgap1	G	A	17: 71,094,087 (GRCm39)	V803M	probably damaging	Het
Drd3	A	C	16: 43,638,695 (GRCm39)	M299L	probably benign	Het
Ergic2	C	A	6: 148,084,605 (GRCm39)	M34I	possibly damaging	Het
Ext2	A	T	2: 93,644,004 (GRCm39)	D92E	possibly damaging	Het
Fmnl1	A	G	11: 103,086,111 (GRCm39)		probably benign	Het
Ganab	C	T	19: 8,889,071 (GRCm39)	R591W	probably damaging	Het
Kdsr	A	T	1: 106,683,172 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,401,099 (GRCm39)	E813G	probably damaging	Het
Nlrc5	A	G	8: 95,247,675 (GRCm39)	T1621A	probably benign	Het
Nmnat1	G	A	4: 149,554,124 (GRCm39)	Q139*	probably null	Het
Os9	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	10: 126,934,348 (GRCm39)		probably benign	Het
Oxa1l	T	G	14: 54,605,121 (GRCm39)	V11G	possibly damaging	Het
Padi1	A	G	4: 140,542,141 (GRCm39)	Y594H	probably benign	Het
Polr1a	T	A	6: 71,903,667 (GRCm39)	F327I	probably benign	Het
Prf1	G	T	10: 61,135,972 (GRCm39)	A83S	probably benign	Het
Ptgs2	A	G	1: 149,981,127 (GRCm39)	E470G	probably benign	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc19a2	A	G	1: 164,091,025 (GRCm39)	I278V	probably benign	Het
Smco1	A	T	16: 32,092,674 (GRCm39)	N115I	probably damaging	Het
Smyd3	G	A	1: 178,871,420 (GRCm39)	L320F	probably damaging	Het
Svil	T	A	18: 5,098,900 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,144,749 (GRCm39)	D1566G	probably damaging	Het
Tpm2	T	C	4: 43,523,296 (GRCm39)	D20G	probably damaging	Het
Ubap1l	A	G	9: 65,281,045 (GRCm39)	Y241C	probably damaging	Het
Usp15	A	G	10: 122,960,417 (GRCm39)		probably null	Het
Wdr45b	A	G	11: 121,221,923 (GRCm39)		probably benign	Het
Zc3h14	A	G	12: 98,745,414 (GRCm39)	I468V	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	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
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'- ATCTTCTGCAATTCCCGGGAG -3'
(R):5'- TCCAGATCAGTGGAGATCCTGAG -3'

Sequencing Primer
(F):5'- AGGTGCGGAGGGTGCAG -3'
(R):5'- AGATCCTGAGGTTGTGGCCAC -3'

Posted On

2017-02-10