Mutagenetix > Incidental Mutation

Incidental Mutation 'R0667:Abca5'

218555

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

038852-MU

Accession Numbers

Essential gene?

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

Stock #

R0667 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110160195-110228542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110218637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 76 (N76K)

Ref Sequence

ENSEMBL: ENSMUSP00000118328 (fasta)

Gene Model

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

AlphaFold

Q8K448

Predicted Effect

probably benign
Transcript: ENSMUST00000043961
AA Change: N76K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: N76K

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: N76K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: N76K

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
AA Change: N76K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118328
Gene: ENSMUSG00000018800
AA Change: N76K

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148984

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Atad2	A	G	15: 57,962,115 (GRCm39)	S1143P	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Cand1	A	G	10: 119,052,425 (GRCm39)	S234P	probably benign	Het
Cd200	T	A	16: 45,215,220 (GRCm39)	I144L	probably benign	Het
Cep76	A	T	18: 67,767,848 (GRCm39)	L228Q	possibly damaging	Het
Col12a1	A	G	9: 79,535,744 (GRCm39)	L2584S	probably damaging	Het
Col6a3	A	C	1: 90,755,823 (GRCm39)	D155E	probably damaging	Het
Col6a4	G	A	9: 105,907,158 (GRCm39)		probably benign	Het
Dsg2	A	C	18: 20,706,556 (GRCm39)	D24A	possibly damaging	Het
Gm5901	G	A	7: 105,026,697 (GRCm39)	S155N	possibly damaging	Het
Hkdc1	T	C	10: 62,247,644 (GRCm39)		probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnh1	T	A	1: 192,188,346 (GRCm39)	S936T	probably benign	Het
Klhdc3	A	T	17: 46,988,151 (GRCm39)	F205I	probably benign	Het
Krt31	T	A	11: 99,938,951 (GRCm39)	H290L	probably benign	Het
Lama2	T	A	10: 27,220,406 (GRCm39)		probably null	Het
Mep1a	T	G	17: 43,789,081 (GRCm39)	D565A	probably benign	Het
Mgme1	T	A	2: 144,120,907 (GRCm39)		probably benign	Het
Mtf2	C	T	5: 108,252,369 (GRCm39)	T409I	probably damaging	Het
Mylk3	A	G	8: 86,081,794 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,559,338 (GRCm39)	E650G	probably damaging	Het
Nipbl	A	C	15: 8,390,488 (GRCm39)	D260E	possibly damaging	Het
Nufip2	T	A	11: 77,582,839 (GRCm39)	V251D	possibly damaging	Het
Or2n1e	C	A	17: 38,586,048 (GRCm39)	P129T	probably damaging	Het
Or4a2	T	C	2: 89,248,032 (GRCm39)	I242V	probably benign	Het
Or7g35	T	A	9: 19,496,743 (GRCm39)	N303K	probably benign	Het
Osm	G	T	11: 4,189,918 (GRCm39)	R234L	possibly damaging	Het
Pabpc1	G	A	15: 36,598,275 (GRCm39)	A515V	probably benign	Het
Piwil1	T	A	5: 128,818,542 (GRCm39)		probably null	Het
Pld1	A	G	3: 28,133,327 (GRCm39)		probably null	Het
Plekhg3	C	T	12: 76,623,372 (GRCm39)	R871C	probably damaging	Het
Ppfia2	A	T	10: 106,749,555 (GRCm39)	Y1147F	probably damaging	Het
Prmt3	A	G	7: 49,441,743 (GRCm39)	Y240C	probably damaging	Het
Prr36	G	T	8: 4,266,311 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 75,875,583 (GRCm39)	I908T	probably damaging	Het
Sae1	A	T	7: 16,102,457 (GRCm39)	N172K	probably damaging	Het
Satb1	T	G	17: 52,089,889 (GRCm39)	Q319H	probably damaging	Het
Scart2	C	G	7: 139,841,450 (GRCm39)	S251R	possibly damaging	Het
Scn2a	A	T	2: 65,582,340 (GRCm39)	I1563F	possibly damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Serpinb9b	T	A	13: 33,216,909 (GRCm39)	L60*	probably null	Het
Setd1a	A	G	7: 127,385,765 (GRCm39)	D281G	probably damaging	Het
Slc8a1	C	A	17: 81,956,310 (GRCm39)	V243F	probably damaging	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Tiam1	C	A	16: 89,694,872 (GRCm39)	S195I	probably damaging	Het
Tjp2	A	G	19: 24,086,113 (GRCm39)	V803A	probably benign	Het
Ttc5	T	A	14: 51,003,415 (GRCm39)	Q423L	probably benign	Het
Tyk2	A	C	9: 21,020,167 (GRCm39)	V997G	probably damaging	Het
Uhrf1	T	C	17: 56,617,677 (GRCm39)	V133A	probably benign	Het
Vmn2r107	A	C	17: 20,575,916 (GRCm39)	Y82S	possibly damaging	Het
Vmn2r93	T	C	17: 18,546,503 (GRCm39)	F792L	probably damaging	Het
Vps13c	G	A	9: 67,858,855 (GRCm39)	W2768*	probably null	Het
Zfp456	A	T	13: 67,514,861 (GRCm39)	C282S	probably benign	Het
Zhx1	T	C	15: 57,916,561 (GRCm39)	N562D	possibly damaging	Het
Zmynd15	G	T	11: 70,355,944 (GRCm39)	G481C	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGTGTAAGTTCAGATGCGTGAC -3'
(R):5'- TGCTGGGAAGCTCAATGCTGTG -3'

Sequencing Primer
(F):5'- tccaaggaattattctggcctc -3'
(R):5'- GGCCACAGTGTTAACCCTTAG -3'

Posted On

2014-08-18