Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02639:Abca5'

301669

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca5

Ensembl Gene

ENSMUSG00000018800

Gene Name

ATP-binding cassette, sub-family A member 5

Synonyms

ABC13, B930033A02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

110160195-110228542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110178899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1140 (I1140N)

Ref Sequence

ENSEMBL: ENSMUSP00000120708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043961] [ENSMUST00000124714]

AlphaFold

Q8K448

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043961
AA Change: I1140N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: I1140N

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	29	416	4.3e-33	PFAM
AAA	506	691	2.88e-8	SMART
low complexity region	733	744	N/A	INTRINSIC
transmembrane domain	864	886	N/A	INTRINSIC
transmembrane domain	971	993	N/A	INTRINSIC
low complexity region	1262	1267	N/A	INTRINSIC
AAA	1325	1512	3.52e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124714
AA Change: I1140N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: I1140N

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	30	416	9.5e-32	PFAM
AAA	506	691	2.88e-8	SMART
low complexity region	733	744	N/A	INTRINSIC
transmembrane domain	864	886	N/A	INTRINSIC
transmembrane domain	971	993	N/A	INTRINSIC
transmembrane domain	1019	1041	N/A	INTRINSIC
transmembrane domain	1074	1096	N/A	INTRINSIC
transmembrane domain	1103	1125	N/A	INTRINSIC
transmembrane domain	1136	1158	N/A	INTRINSIC
transmembrane domain	1165	1187	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,430,048 (GRCm39)	R71*	probably null	Het
Atp6v0a1	T	A	11: 100,946,344 (GRCm39)	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,491,540 (GRCm39)	M675T	probably damaging	Het
Baz1a	A	G	12: 54,942,810 (GRCm39)		probably benign	Het
Cd5l	T	C	3: 87,275,813 (GRCm39)	V261A	probably damaging	Het
Copb1	A	G	7: 113,825,830 (GRCm39)		probably benign	Het
Cul5	T	C	9: 53,566,642 (GRCm39)	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,546,986 (GRCm39)	Q176L	probably benign	Het
Ddo	A	G	10: 40,523,733 (GRCm39)	D241G	probably damaging	Het
Defa29	A	G	8: 21,816,137 (GRCm39)	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,182,584 (GRCm39)	N566D	probably benign	Het
Eif1ad14	G	T	12: 87,886,269 (GRCm39)	T120K	probably benign	Het
Emilin2	T	C	17: 71,581,544 (GRCm39)	D394G	probably benign	Het
Fbf1	T	C	11: 116,043,426 (GRCm39)	E461G	probably benign	Het
Fgfr2	A	G	7: 129,830,532 (GRCm39)		probably benign	Het
Fibcd1	G	A	2: 31,707,162 (GRCm39)	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,811,797 (GRCm39)	H344Q	probably benign	Het
Fnip1	T	A	11: 54,366,466 (GRCm39)	C52*	probably null	Het
Fto	T	A	8: 92,136,156 (GRCm39)	N143K	probably damaging	Het
Hells	G	T	19: 38,926,873 (GRCm39)	L84F	probably damaging	Het
Hydin	G	A	8: 111,265,081 (GRCm39)	V2755I	probably benign	Het
Irgq	C	A	7: 24,230,887 (GRCm39)	A26E	probably damaging	Het
Katnip	A	G	7: 125,471,964 (GRCm39)	I1518V	probably damaging	Het
Klhl29	A	T	12: 5,187,453 (GRCm39)	Y304N	probably damaging	Het
Muc6	T	C	7: 141,235,843 (GRCm39)		probably benign	Het
Myo15a	T	C	11: 60,369,447 (GRCm39)	F736L	probably benign	Het
Nynrin	G	T	14: 56,108,112 (GRCm39)	W1073L	probably damaging	Het
Or10h28	G	A	17: 33,488,369 (GRCm39)	V224M	possibly damaging	Het
Or10w1	A	T	19: 13,631,960 (GRCm39)	T51S	possibly damaging	Het
Or14c46	A	T	7: 85,918,928 (GRCm39)	I23N	probably damaging	Het
Or14j10	A	T	17: 37,934,878 (GRCm39)	I216N	probably benign	Het
Or1e29	A	T	11: 73,667,371 (GRCm39)	C261S	probably benign	Het
Or51a10	C	A	7: 103,698,988 (GRCm39)	C191F	probably damaging	Het
Or52e8b	T	A	7: 104,673,429 (GRCm39)	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,329 (GRCm39)	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pola2	A	G	19: 6,003,802 (GRCm39)	V191A	probably benign	Het
Slc22a8	A	T	19: 8,571,323 (GRCm39)	Y18F	probably benign	Het
Slc26a5	C	T	5: 22,024,765 (GRCm39)	V440M	probably damaging	Het

Other mutations in Abca5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Abca5	APN	11	110,200,276 (GRCm39)	critical splice acceptor site	probably null
IGL00675:Abca5	APN	11	110,195,811 (GRCm39)	missense	probably damaging	1.00
IGL01512:Abca5	APN	11	110,208,649 (GRCm39)	missense	probably benign	0.40
IGL01559:Abca5	APN	11	110,163,352 (GRCm39)	missense	probably benign
IGL01584:Abca5	APN	11	110,195,749 (GRCm39)	missense	probably damaging	0.98
IGL01604:Abca5	APN	11	110,168,462 (GRCm39)	missense	possibly damaging	0.47
IGL01828:Abca5	APN	11	110,178,521 (GRCm39)	missense	probably benign
IGL01880:Abca5	APN	11	110,184,089 (GRCm39)	missense	probably benign	0.01
IGL02054:Abca5	APN	11	110,182,949 (GRCm39)	missense	probably damaging	0.99
IGL02074:Abca5	APN	11	110,184,176 (GRCm39)	missense	probably benign	0.00
IGL02233:Abca5	APN	11	110,165,170 (GRCm39)	nonsense	probably null
IGL02245:Abca5	APN	11	110,188,995 (GRCm39)	nonsense	probably null
IGL02317:Abca5	APN	11	110,218,587 (GRCm39)	missense	probably benign	0.09
IGL02352:Abca5	APN	11	110,166,156 (GRCm39)	missense	probably benign	0.01
IGL02359:Abca5	APN	11	110,166,156 (GRCm39)	missense	probably benign	0.01
IGL02390:Abca5	APN	11	110,187,377 (GRCm39)	missense	probably benign
IGL02600:Abca5	APN	11	110,200,264 (GRCm39)	missense	probably benign	0.02
IGL03000:Abca5	APN	11	110,208,640 (GRCm39)	missense	probably benign	0.04
IGL03074:Abca5	APN	11	110,201,101 (GRCm39)	missense	probably benign	0.01
IGL03078:Abca5	APN	11	110,167,371 (GRCm39)	nonsense	probably null
IGL03342:Abca5	APN	11	110,178,517 (GRCm39)	missense	possibly damaging	0.94
IGL03368:Abca5	APN	11	110,204,348 (GRCm39)	splice site	probably benign
atles	UTSW	11	110,190,755 (GRCm39)	missense	probably damaging	0.99
Demento	UTSW	11	110,201,059 (GRCm39)	missense	probably damaging	1.00
jones	UTSW	11	110,178,884 (GRCm39)	splice site	probably null
smith	UTSW	11	110,192,371 (GRCm39)	missense	probably benign	0.22
R0106:Abca5	UTSW	11	110,210,651 (GRCm39)	missense	probably damaging	1.00
R0116:Abca5	UTSW	11	110,167,331 (GRCm39)	missense	probably damaging	1.00
R0305:Abca5	UTSW	11	110,164,137 (GRCm39)	splice site	probably benign
R0550:Abca5	UTSW	11	110,184,666 (GRCm39)	missense	probably damaging	1.00
R0578:Abca5	UTSW	11	110,167,315 (GRCm39)	nonsense	probably null
R0587:Abca5	UTSW	11	110,202,203 (GRCm39)	missense	probably benign	0.00
R0610:Abca5	UTSW	11	110,192,353 (GRCm39)	missense	probably benign	0.00
R0617:Abca5	UTSW	11	110,170,515 (GRCm39)	missense	probably damaging	0.98
R0667:Abca5	UTSW	11	110,218,637 (GRCm39)	missense	probably benign	0.00
R0844:Abca5	UTSW	11	110,210,658 (GRCm39)	missense	probably benign	0.00
R1273:Abca5	UTSW	11	110,217,491 (GRCm39)	missense	probably benign	0.01
R1463:Abca5	UTSW	11	110,205,384 (GRCm39)	missense	probably damaging	1.00
R1511:Abca5	UTSW	11	110,190,812 (GRCm39)	missense	possibly damaging	0.73
R1511:Abca5	UTSW	11	110,190,804 (GRCm39)	missense	probably damaging	1.00
R1687:Abca5	UTSW	11	110,184,714 (GRCm39)	missense	probably benign	0.32
R1759:Abca5	UTSW	11	110,184,674 (GRCm39)	missense	probably benign
R1870:Abca5	UTSW	11	110,220,043 (GRCm39)	missense	probably benign	0.33
R2006:Abca5	UTSW	11	110,204,275 (GRCm39)	missense	probably benign
R2039:Abca5	UTSW	11	110,190,755 (GRCm39)	missense	probably damaging	0.99
R2076:Abca5	UTSW	11	110,178,478 (GRCm39)	missense	probably benign	0.10
R2136:Abca5	UTSW	11	110,210,658 (GRCm39)	missense	probably benign	0.00
R2154:Abca5	UTSW	11	110,183,000 (GRCm39)	missense	probably benign	0.00
R2273:Abca5	UTSW	11	110,166,107 (GRCm39)	missense	possibly damaging	0.93
R2274:Abca5	UTSW	11	110,166,107 (GRCm39)	missense	possibly damaging	0.93
R2275:Abca5	UTSW	11	110,166,107 (GRCm39)	missense	possibly damaging	0.93
R2328:Abca5	UTSW	11	110,167,347 (GRCm39)	missense	probably damaging	0.99
R3702:Abca5	UTSW	11	110,178,884 (GRCm39)	splice site	probably null
R3768:Abca5	UTSW	11	110,204,217 (GRCm39)	missense	probably benign	0.01
R3872:Abca5	UTSW	11	110,201,059 (GRCm39)	missense	probably damaging	1.00
R3873:Abca5	UTSW	11	110,201,059 (GRCm39)	missense	probably damaging	1.00
R3874:Abca5	UTSW	11	110,201,059 (GRCm39)	missense	probably damaging	1.00
R3875:Abca5	UTSW	11	110,201,059 (GRCm39)	missense	probably damaging	1.00
R4347:Abca5	UTSW	11	110,190,794 (GRCm39)	missense	probably damaging	1.00
R4429:Abca5	UTSW	11	110,202,236 (GRCm39)	missense	probably benign	0.00
R4790:Abca5	UTSW	11	110,202,236 (GRCm39)	missense	possibly damaging	0.63
R4812:Abca5	UTSW	11	110,192,647 (GRCm39)	missense	probably damaging	1.00
R4833:Abca5	UTSW	11	110,170,142 (GRCm39)	missense	probably benign	0.00
R4883:Abca5	UTSW	11	110,217,457 (GRCm39)	missense	probably damaging	1.00
R5000:Abca5	UTSW	11	110,201,050 (GRCm39)	missense	probably damaging	1.00
R5004:Abca5	UTSW	11	110,170,202 (GRCm39)	missense	probably damaging	0.99
R5066:Abca5	UTSW	11	110,200,176 (GRCm39)	intron	probably benign
R5230:Abca5	UTSW	11	110,210,686 (GRCm39)	missense	probably benign
R5321:Abca5	UTSW	11	110,218,651 (GRCm39)	missense	probably benign
R5350:Abca5	UTSW	11	110,210,622 (GRCm39)	nonsense	probably null
R5414:Abca5	UTSW	11	110,205,448 (GRCm39)	missense	probably damaging	1.00
R5437:Abca5	UTSW	11	110,210,622 (GRCm39)	nonsense	probably null
R5451:Abca5	UTSW	11	110,210,622 (GRCm39)	nonsense	probably null
R5453:Abca5	UTSW	11	110,210,622 (GRCm39)	nonsense	probably null
R5488:Abca5	UTSW	11	110,183,009 (GRCm39)	missense	probably benign	0.00
R5636:Abca5	UTSW	11	110,192,362 (GRCm39)	missense	probably benign	0.00
R5805:Abca5	UTSW	11	110,170,216 (GRCm39)	missense	probably benign	0.06
R5900:Abca5	UTSW	11	110,169,982 (GRCm39)	missense	possibly damaging	0.92
R6152:Abca5	UTSW	11	110,204,187 (GRCm39)	missense	probably damaging	1.00
R6167:Abca5	UTSW	11	110,182,931 (GRCm39)	missense	probably benign	0.10
R6343:Abca5	UTSW	11	110,205,378 (GRCm39)	missense	probably damaging	1.00
R6425:Abca5	UTSW	11	110,220,058 (GRCm39)	missense	possibly damaging	0.75
R6493:Abca5	UTSW	11	110,184,704 (GRCm39)	missense	probably benign	0.00
R6498:Abca5	UTSW	11	110,182,928 (GRCm39)	missense	possibly damaging	0.70
R6884:Abca5	UTSW	11	110,220,043 (GRCm39)	missense	probably damaging	0.96
R6912:Abca5	UTSW	11	110,197,106 (GRCm39)	missense	probably benign	0.35
R7084:Abca5	UTSW	11	110,192,371 (GRCm39)	missense	probably benign	0.22
R7239:Abca5	UTSW	11	110,217,530 (GRCm39)	missense	possibly damaging	0.94
R7490:Abca5	UTSW	11	110,168,437 (GRCm39)	missense	possibly damaging	0.95
R7527:Abca5	UTSW	11	110,218,556 (GRCm39)	critical splice donor site	probably null
R7702:Abca5	UTSW	11	110,167,278 (GRCm39)	critical splice donor site	probably null
R7763:Abca5	UTSW	11	110,163,323 (GRCm39)	missense	possibly damaging	0.85
R8237:Abca5	UTSW	11	110,200,981 (GRCm39)	missense	probably benign	0.01
R8910:Abca5	UTSW	11	110,189,030 (GRCm39)	missense	probably damaging	0.96
R9028:Abca5	UTSW	11	110,188,904 (GRCm39)	missense	probably damaging	1.00
R9124:Abca5	UTSW	11	110,189,005 (GRCm39)	missense	possibly damaging	0.91
R9151:Abca5	UTSW	11	110,188,908 (GRCm39)	missense	probably benign
R9187:Abca5	UTSW	11	110,200,961 (GRCm39)	critical splice donor site	probably null
R9249:Abca5	UTSW	11	110,220,165 (GRCm39)	intron	probably benign
R9322:Abca5	UTSW	11	110,192,331 (GRCm39)	missense	probably damaging	0.96
R9391:Abca5	UTSW	11	110,178,542 (GRCm39)	missense	probably benign
R9435:Abca5	UTSW	11	110,182,911 (GRCm39)	critical splice donor site	probably null
R9557:Abca5	UTSW	11	110,197,109 (GRCm39)	missense	probably damaging	1.00
R9660:Abca5	UTSW	11	110,168,248 (GRCm39)	missense	possibly damaging	0.80
R9788:Abca5	UTSW	11	110,192,253 (GRCm39)	missense	probably damaging	1.00
RF014:Abca5	UTSW	11	110,170,580 (GRCm39)	critical splice acceptor site	probably null
Z1177:Abca5	UTSW	11	110,170,154 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16