Mutagenetix > Incidental Mutation

Incidental Mutation 'R5451:Abca5'

486821

Institutional Source

Beutler Lab

Gene Symbol

Abca5

Ensembl Gene

ENSMUSG00000018800

Gene Name

ATP-binding cassette, sub-family A member 5

Synonyms

ABC13, B930033A02Rik

MMRRC Submission

043016-MU

Accession Numbers

Essential gene?

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

Stock #

R5451 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110160195-110228542 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 110210622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 186 (Q186*)

Ref Sequence

ENSEMBL: ENSMUSP00000120708 (fasta)

Gene Model

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

AlphaFold

Q8K448

Predicted Effect

probably null
Transcript: ENSMUST00000043961
AA Change: Q186*

SMART Domains

Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: Q186*

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 null
Transcript: ENSMUST00000124714
AA Change: Q186*

SMART Domains

Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: Q186*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (52/54)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,334,076 (GRCm39)	F1142S	possibly damaging	Het
Calhm2	T	A	19: 47,121,314 (GRCm39)	Y285F	possibly damaging	Het
Casr	T	C	16: 36,330,270 (GRCm39)	T355A	probably damaging	Het
Ccnq	T	A	11: 78,642,115 (GRCm39)	Q125L	possibly damaging	Het
Clca3a1	T	C	3: 144,733,747 (GRCm39)	Y63C	probably damaging	Het
Cntnap5a	T	C	1: 115,612,873 (GRCm39)	S3P	probably benign	Het
Col27a1	G	A	4: 63,143,476 (GRCm39)	G388D	probably damaging	Het
Cwh43	T	C	5: 73,589,256 (GRCm39)	M447T	probably benign	Het
Dnah7b	G	A	1: 46,281,179 (GRCm39)	G2747S	possibly damaging	Het
Fbxo7	A	G	10: 85,864,901 (GRCm39)	S51G	probably benign	Het
Gabbr2	T	A	4: 46,684,294 (GRCm39)	Y660F	probably benign	Het
Galnt15	A	G	14: 31,751,868 (GRCm39)	E140G	probably benign	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gsap	T	A	5: 21,422,445 (GRCm39)	L138Q	probably damaging	Het
Igflr1	A	G	7: 30,265,747 (GRCm39)	N57S	possibly damaging	Het
Ighv13-2	A	G	12: 114,321,473 (GRCm39)	F89L	probably damaging	Het
Irf2bpl	A	G	12: 86,928,846 (GRCm39)	V609A	probably benign	Het
Jkampl	A	G	6: 73,445,850 (GRCm39)	V233A	probably benign	Het
Lingo1	T	G	9: 56,527,711 (GRCm39)	I293L	probably damaging	Het
Lrrc14	A	G	15: 76,598,173 (GRCm39)	D301G	probably benign	Het
Lsm2	T	C	17: 35,201,185 (GRCm39)		probably benign	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Micall1	T	A	15: 79,011,104 (GRCm39)		probably null	Het
Mpp7	T	C	18: 7,442,855 (GRCm39)	D156G	probably null	Het
Mybbp1a	A	G	11: 72,338,939 (GRCm39)	D822G	probably damaging	Het
Naip2	A	G	13: 100,325,368 (GRCm39)	V180A	probably benign	Het
Nol10	T	A	12: 17,409,103 (GRCm39)	Y159*	probably null	Het
Nphp3	A	G	9: 103,919,221 (GRCm39)	T1290A	probably benign	Het
Or12e1	T	A	2: 87,022,796 (GRCm39)	V255E	probably damaging	Het
Or5aq1b	T	C	2: 86,902,341 (GRCm39)	I46V	probably damaging	Het
Or7g20	T	C	9: 18,946,787 (GRCm39)	Y123H	probably damaging	Het
Pcsk5	T	A	19: 17,440,720 (GRCm39)	Y1290F	possibly damaging	Het
Rab42	T	C	4: 132,029,827 (GRCm39)	N132D	probably benign	Het
Rfx3	T	G	19: 27,827,359 (GRCm39)	T76P	probably damaging	Het
Rps13-ps2	G	T	7: 88,180,036 (GRCm39)		noncoding transcript	Het
Slc12a3	A	G	8: 95,083,655 (GRCm39)	D894G	possibly damaging	Het
Slc25a15	G	A	8: 22,879,983 (GRCm39)	T54I	probably benign	Het
Slco1c1	A	T	6: 141,505,604 (GRCm39)	Q461L	probably benign	Het
Slfn5	T	G	11: 82,850,912 (GRCm39)	I403R	probably damaging	Het
Srxn1	G	A	2: 151,947,799 (GRCm39)	V66M	probably damaging	Het
Tbc1d32	T	A	10: 56,071,571 (GRCm39)	T318S	possibly damaging	Het
Tiam2	G	T	17: 3,479,271 (GRCm39)	R668M	probably damaging	Het
Tle7	A	T	8: 110,836,503 (GRCm39)	I160F	probably damaging	Het
Trgj4	G	T	13: 19,526,335 (GRCm39)		probably benign	Het
Trim9	A	G	12: 70,393,603 (GRCm39)	S114P	probably benign	Het
Trp53i11	T	C	2: 93,030,200 (GRCm39)	L169P	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r190-ps	A	G	13: 22,328,901 (GRCm39)		noncoding transcript	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCAAATCCTTCATAAGACAAGAG -3'
(R):5'- TCCGTCCTGTAGAGAATGCC -3'

Sequencing Primer
(F):5'- GGCTTCAAAGATTCATTTTATC -3'
(R):5'- CTGTAGAGAATGCCTGGTTATATTGC -3'

Posted On

2017-08-18