Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02352:Abca5'

289527

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: 0.115) question?

Stock #

IGL02352

Quality Score

Status

Chromosome

Chromosomal Location

110160195-110228542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110166156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1540 (N1540I)

Ref Sequence

ENSEMBL: ENSMUSP00000047927 (fasta)

Gene Model

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

AlphaFold

Q8K448

Predicted Effect

probably benign
Transcript: ENSMUST00000043961
AA Change: N1540I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: N1540I

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,941,829 (GRCm39)		probably null	Het
Adamtsl5	T	A	10: 80,179,562 (GRCm39)		probably null	Het
Aldh2	T	C	5: 121,713,960 (GRCm39)	E128G	probably null	Het
Anln	A	G	9: 22,279,708 (GRCm39)	V494A	probably benign	Het
Ano3	A	T	2: 110,715,288 (GRCm39)	L50*	probably null	Het
Atp13a3	A	G	16: 30,169,902 (GRCm39)	I392T	probably damaging	Het
C1qtnf5	A	G	9: 44,019,631 (GRCm39)	E85G	possibly damaging	Het
Cacna1s	A	T	1: 136,020,990 (GRCm39)		probably benign	Het
Ccdc150	G	A	1: 54,311,680 (GRCm39)	R222H	probably benign	Het
Cdk5rap3	A	T	11: 96,807,003 (GRCm39)	I9N	probably damaging	Het
Cmip	A	T	8: 118,137,994 (GRCm39)		probably benign	Het
Cyp21a1	A	G	17: 35,023,196 (GRCm39)	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,278,121 (GRCm39)	W10R	possibly damaging	Het
Dock10	A	G	1: 80,483,378 (GRCm39)	Y2076H	probably damaging	Het
Dpcd	G	T	19: 45,565,493 (GRCm39)	A156S	probably benign	Het
Egflam	T	C	15: 7,263,706 (GRCm39)	N748S	probably benign	Het
Fam227b	A	G	2: 125,988,174 (GRCm39)		probably benign	Het
Fancd2	T	A	6: 113,540,073 (GRCm39)	I654N	probably damaging	Het
Hpf1	A	G	8: 61,349,836 (GRCm39)	I155V	probably benign	Het
Hrh1	C	A	6: 114,457,404 (GRCm39)	N228K	probably benign	Het
Igkv3-2	T	C	6: 70,675,474 (GRCm39)	L8P	probably damaging	Het
Iqgap3	T	C	3: 88,009,267 (GRCm39)	F734L	probably benign	Het
Kif5a	T	C	10: 127,079,370 (GRCm39)	Y276C	probably damaging	Het
Lax1	A	T	1: 133,608,208 (GRCm39)	S178T	possibly damaging	Het
Marchf6	C	T	15: 31,509,905 (GRCm39)	C28Y	probably damaging	Het
Mylk3	T	C	8: 86,081,931 (GRCm39)	T356A	probably benign	Het
Obscn	T	C	11: 58,891,853 (GRCm39)	E6893G	probably benign	Het
Or2l13	T	C	16: 19,305,927 (GRCm39)	L113P	probably damaging	Het
Pate7	A	T	9: 35,689,180 (GRCm39)	M1K	probably null	Het
Pgap2	G	T	7: 101,885,346 (GRCm39)	V71F	probably damaging	Het
Prob1	T	G	18: 35,785,893 (GRCm39)	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,475,691 (GRCm39)	D430E	probably benign	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,803 (GRCm39)		probably benign	Het
Sgsm2	G	T	11: 74,782,900 (GRCm39)		probably benign	Het
Slc38a9	A	G	13: 112,826,720 (GRCm39)	I153V	probably benign	Het
Slco1b2	T	A	6: 141,631,251 (GRCm39)	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,362,727 (GRCm39)	S145P	probably benign	Het
Sv2b	T	C	7: 74,786,197 (GRCm39)	T408A	probably benign	Het
Usp24	T	C	4: 106,261,122 (GRCm39)	C1626R	probably damaging	Het
Wdr43	C	T	17: 71,939,043 (GRCm39)	T217M	possibly damaging	Het
Wdr95	G	A	5: 149,504,084 (GRCm39)	V155M	probably damaging	Het
Wsb1	G	A	11: 79,141,838 (GRCm39)	L60F	probably damaging	Het
Wwp2	C	T	8: 108,267,278 (GRCm39)	R297*	probably null	Het
Xkr6	T	C	14: 64,057,156 (GRCm39)	Y356H	unknown	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
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

2015-04-16