Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01512:Abca5'

89265

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 #

IGL01512

Quality Score

Status

Chromosome

Chromosomal Location

110160195-110228542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110208649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 223 (I223V)

Ref Sequence

ENSEMBL: ENSMUSP00000120708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043961] [ENSMUST00000124714] [ENSMUST00000134721]

AlphaFold

Q8K448

Predicted Effect

probably benign
Transcript: ENSMUST00000043961
AA Change: I223V

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: I223V

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

probably benign
Transcript: ENSMUST00000124714
AA Change: I223V

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: I223V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127318

Predicted Effect

probably benign
Transcript: ENSMUST00000134721

SMART Domains

Protein: ENSMUSP00000118328
Gene: ENSMUSG00000018800

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	C	15: 41,729,413 (GRCm39)	E329G	probably damaging	Het
Ahsa2	C	T	11: 23,441,582 (GRCm39)	A163T	probably benign	Het
Atxn1	T	C	13: 45,720,077 (GRCm39)	Q606R	probably damaging	Het
Fads1	T	A	19: 10,160,506 (GRCm39)	S31T	probably benign	Het
Il6st	T	A	13: 112,640,900 (GRCm39)	M831K	probably benign	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Megf6	G	A	4: 154,347,040 (GRCm39)	R755Q	possibly damaging	Het
Ndn	T	G	7: 61,998,481 (GRCm39)	L109R	probably damaging	Het
Or2b4	T	G	17: 38,116,503 (GRCm39)	S156A	probably damaging	Het
Or4c52	A	G	2: 89,845,636 (GRCm39)	I121V	probably damaging	Het
Psmd6	T	C	14: 14,114,237 (GRCm38)	Y294C	probably damaging	Het
Serpina6	A	G	12: 103,620,318 (GRCm39)	Y144H	probably damaging	Het
Top3b	T	C	16: 16,709,286 (GRCm39)	I68T	possibly damaging	Het
Trav6d-4	G	A	14: 52,990,870 (GRCm39)	V6I	probably benign	Het
Utp3	T	C	5: 88,703,803 (GRCm39)	V444A	probably damaging	Het
Wdr72	T	C	9: 74,056,041 (GRCm39)	V299A	probably benign	Het
Zfp791	C	T	8: 85,840,172 (GRCm39)	V32M	probably damaging	Het
Zfp9	A	G	6: 118,444,292 (GRCm39)	F17S	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
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
IGL02639:Abca5	APN	11	110,178,899 (GRCm39)	missense	possibly damaging	0.79
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

2013-12-03