Mutagenetix > Incidental Mutation

Incidental Mutation 'R7821:Abca7'

601878

Institutional Source

Beutler Lab

Gene Symbol

Abca7

Ensembl Gene

ENSMUSG00000035722

Gene Name

ATP-binding cassette, sub-family A member 7

Synonyms

Abc51

MMRRC Submission

045875-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7821 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

79832328-79851406 bp(+) (GRCm39)

Type of Mutation

small deletion (3 aa in frame mutation)

DNA Base Change (assembly)

TGGTGCGTGAG to TG at 79838424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043866] [ENSMUST00000132517] [ENSMUST00000171637]

AlphaFold

Q91V24

Predicted Effect

probably benign
Transcript: ENSMUST00000043866

SMART Domains

Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722

Domain	Start	End	E-Value	Type
transmembrane domain	23	42	N/A	INTRINSIC
Pfam:ABC2_membrane_3	515	747	1.1e-17	PFAM
AAA	830	1011	4.97e-12	SMART
low complexity region	1136	1147	N/A	INTRINSIC
transmembrane domain	1241	1263	N/A	INTRINSIC
low complexity region	1299	1309	N/A	INTRINSIC
low complexity region	1374	1390	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1427	1764	9e-43	PFAM
AAA	1833	2018	7.2e-9	SMART
low complexity region	2120	2135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132517

SMART Domains

Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722

Domain	Start	End	E-Value	Type
transmembrane domain	23	42	N/A	INTRINSIC
Pfam:ABC2_membrane_3	515	747	1.1e-17	PFAM
AAA	830	1011	4.97e-12	SMART
low complexity region	1136	1147	N/A	INTRINSIC
transmembrane domain	1241	1263	N/A	INTRINSIC
low complexity region	1299	1309	N/A	INTRINSIC
low complexity region	1374	1390	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1427	1764	9e-43	PFAM
AAA	1833	2018	7.2e-9	SMART
low complexity region	2120	2135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171637

SMART Domains

Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722

Domain	Start	End	E-Value	Type
transmembrane domain	23	42	N/A	INTRINSIC
Pfam:ABC2_membrane_3	517	747	2.8e-19	PFAM
AAA	830	1011	4.97e-12	SMART
low complexity region	1136	1147	N/A	INTRINSIC
transmembrane domain	1249	1271	N/A	INTRINSIC
low complexity region	1307	1317	N/A	INTRINSIC
low complexity region	1382	1398	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1426	1772	3.9e-47	PFAM
AAA	1841	2026	7.2e-9	SMART
low complexity region	2128	2143	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: The 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, White). This 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 protein is widely expressed with highest detection in spleen and hematopoietic tissues. Defects in this gene cause an increase in amyloid-beta deposits in a mouse model of Alzheimer's disease, and a related human protein is thought to play a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,120,929 (GRCm39)	T112S	probably damaging	Het
Abca12	G	T	1: 71,298,950 (GRCm39)	S2320R	probably benign	Het
Adh7	T	A	3: 137,932,136 (GRCm39)	I250N	probably damaging	Het
Albfm1	T	C	5: 90,740,747 (GRCm39)	V560A	possibly damaging	Het
Aoc1	T	A	6: 48,882,745 (GRCm39)	I229N	probably damaging	Het
C2cd6	A	T	1: 59,106,951 (GRCm39)	Y291*	probably null	Het
Cacnb4	T	C	2: 52,324,520 (GRCm39)	D514G	possibly damaging	Het
Ccdc202	A	G	14: 96,119,486 (GRCm39)	Q81R	possibly damaging	Het
Clec2g	A	G	6: 128,925,740 (GRCm39)	T50A	probably benign	Het
Col6a5	T	C	9: 105,741,458 (GRCm39)	E2487G	probably damaging	Het
D130040H23Rik	A	T	8: 69,752,887 (GRCm39)		probably null	Het
D6Ertd527e	G	A	6: 87,087,879 (GRCm39)	S14N	unknown	Het
Dchs1	G	A	7: 105,414,352 (GRCm39)	T821I	probably benign	Het
Dhcr24	T	C	4: 106,428,633 (GRCm39)	S138P	possibly damaging	Het
Dhrs9	G	A	2: 69,224,782 (GRCm39)	G157R	probably damaging	Het
Dnah5	T	A	15: 28,411,678 (GRCm39)	D3682E	possibly damaging	Het
Dst	T	C	1: 34,314,443 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,403,261 (GRCm39)	H4L	probably benign	Het
Flnb	A	G	14: 7,939,113 (GRCm38)	I2319V	probably benign	Het
Foxe1	T	C	4: 46,344,578 (GRCm39)	W129R	probably damaging	Het
Foxred2	G	A	15: 77,827,550 (GRCm39)	P603L	probably benign	Het
Fshr	A	G	17: 89,293,641 (GRCm39)	S346P	probably damaging	Het
Galnt2	T	A	8: 125,070,134 (GRCm39)	S550R	possibly damaging	Het
Gpc2	A	G	5: 138,274,559 (GRCm39)	S312P	probably benign	Het
Gpr150	C	A	13: 76,204,511 (GRCm39)	A145S	probably benign	Het
Grk4	T	A	5: 34,867,553 (GRCm39)	W173R	probably damaging	Het
Hoxb9	C	G	11: 96,162,537 (GRCm39)	P57R	probably damaging	Het
Hsf5	A	G	11: 87,528,954 (GRCm39)	Q563R	probably benign	Het
Ighv1-58	A	G	12: 115,275,796 (GRCm39)	F114S	possibly damaging	Het
Klra9	T	A	6: 130,162,563 (GRCm39)	I158F	probably damaging	Het
Lrrc8d	T	C	5: 105,960,210 (GRCm39)	S207P	probably damaging	Het
Nbeal2	T	C	9: 110,459,320 (GRCm39)	E1929G	probably damaging	Het
Ncoa1	A	G	12: 4,346,221 (GRCm39)	M89T	probably benign	Het
Nkx2-4	T	C	2: 146,927,208 (GRCm39)	I20V	probably benign	Het
Nup214	T	C	2: 31,916,917 (GRCm39)	S1191P	possibly damaging	Het
Or2n1d	A	G	17: 38,646,855 (GRCm39)	D269G	probably benign	Het
Pfkp	T	A	13: 6,647,908 (GRCm39)	N556I	probably damaging	Het
Pidd1	A	T	7: 141,022,193 (GRCm39)	S199T	probably benign	Het
Pik3r2	T	A	8: 71,222,408 (GRCm39)	I515F	probably damaging	Het
Plcxd2	T	A	16: 45,785,524 (GRCm39)	I294F	probably damaging	Het
Prmt6	C	A	3: 110,158,303 (GRCm39)		probably benign	Het
Prpf8	A	G	11: 75,385,300 (GRCm39)	I812V	probably benign	Het
Rasa2	T	C	9: 96,462,537 (GRCm39)		probably null	Het
Rsad1	A	C	11: 94,435,288 (GRCm39)	D266E	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Shroom3	T	A	5: 93,088,705 (GRCm39)	V485E	probably damaging	Het
Siae	T	A	9: 37,556,196 (GRCm39)	Y451N	probably damaging	Het
Slc7a11	A	T	3: 50,335,476 (GRCm39)	I354N	probably damaging	Het
Spryd7	A	T	14: 61,783,129 (GRCm39)		probably null	Het
Srcap	A	G	7: 127,129,499 (GRCm39)		probably benign	Het
Svep1	T	A	4: 58,179,601 (GRCm39)	D214V	probably damaging	Het
Tmtc4	T	C	14: 123,209,289 (GRCm39)	I119V	probably benign	Het
Trim5	G	A	7: 103,927,633 (GRCm39)	T169I	probably benign	Het
Ttc33	T	C	15: 5,241,506 (GRCm39)	F83S	probably benign	Het
Ubr5	A	T	15: 37,997,431 (GRCm39)	S1741T	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdcp	A	G	12: 4,907,975 (GRCm39)	N694S	probably benign	Het
Zfp174	T	A	16: 3,666,041 (GRCm39)	I102N	probably damaging	Het
Zfp354a	T	C	11: 50,960,539 (GRCm39)	F248S	probably damaging	Het
Zfyve26	A	T	12: 79,302,098 (GRCm39)	C404S	probably damaging	Het
Zmynd8	A	T	2: 165,723,000 (GRCm39)		probably benign	Het

Other mutations in Abca7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Abca7	APN	10	79,847,131 (GRCm39)	missense	probably damaging	0.96
IGL01074:Abca7	APN	10	79,849,726 (GRCm39)	missense	possibly damaging	0.88
IGL01313:Abca7	APN	10	79,838,957 (GRCm39)	splice site	probably benign
IGL01372:Abca7	APN	10	79,842,089 (GRCm39)	missense	probably benign	0.00
IGL01387:Abca7	APN	10	79,835,596 (GRCm39)	missense	possibly damaging	0.71
IGL01468:Abca7	APN	10	79,839,711 (GRCm39)	missense	probably benign	0.21
IGL01648:Abca7	APN	10	79,846,914 (GRCm39)	missense	probably damaging	1.00
IGL01796:Abca7	APN	10	79,849,743 (GRCm39)	missense	probably damaging	0.99
IGL01977:Abca7	APN	10	79,841,986 (GRCm39)	missense	probably benign	0.31
IGL01982:Abca7	APN	10	79,838,475 (GRCm39)	missense	probably damaging	1.00
IGL02115:Abca7	APN	10	79,833,913 (GRCm39)	missense	probably damaging	1.00
IGL02437:Abca7	APN	10	79,844,223 (GRCm39)	missense	probably damaging	1.00
IGL02721:Abca7	APN	10	79,849,469 (GRCm39)	missense	possibly damaging	0.93
IGL02812:Abca7	APN	10	79,841,881 (GRCm39)	missense	possibly damaging	0.84
IGL02823:Abca7	APN	10	79,844,656 (GRCm39)	missense	probably damaging	1.00
IGL02827:Abca7	APN	10	79,845,699 (GRCm39)	missense	probably damaging	1.00
IGL02897:Abca7	APN	10	79,837,426 (GRCm39)	missense	probably damaging	1.00
IGL02952:Abca7	APN	10	79,843,242 (GRCm39)	missense	probably damaging	1.00
R0507:Abca7	UTSW	10	79,838,655 (GRCm39)	splice site	probably benign
R0528:Abca7	UTSW	10	79,838,848 (GRCm39)	missense	probably damaging	1.00
R0541:Abca7	UTSW	10	79,843,185 (GRCm39)	missense	probably benign	0.01
R0584:Abca7	UTSW	10	79,847,564 (GRCm39)	missense	probably damaging	1.00
R1018:Abca7	UTSW	10	79,837,325 (GRCm39)	missense	probably damaging	1.00
R1099:Abca7	UTSW	10	79,849,577 (GRCm39)	nonsense	probably null
R1520:Abca7	UTSW	10	79,844,664 (GRCm39)	missense	possibly damaging	0.69
R1536:Abca7	UTSW	10	79,850,064 (GRCm39)	missense	probably benign	0.39
R1619:Abca7	UTSW	10	79,844,889 (GRCm39)	missense	probably damaging	1.00
R1636:Abca7	UTSW	10	79,844,832 (GRCm39)	missense	probably benign
R1752:Abca7	UTSW	10	79,842,468 (GRCm39)	missense	probably benign	0.17
R1762:Abca7	UTSW	10	79,835,599 (GRCm39)	missense	probably damaging	1.00
R1764:Abca7	UTSW	10	79,844,784 (GRCm39)	missense	probably damaging	1.00
R1891:Abca7	UTSW	10	79,840,874 (GRCm39)	missense	possibly damaging	0.72
R1911:Abca7	UTSW	10	79,842,468 (GRCm39)	missense	probably benign	0.17
R2032:Abca7	UTSW	10	79,844,071 (GRCm39)	missense	probably damaging	1.00
R2188:Abca7	UTSW	10	79,838,367 (GRCm39)	missense	probably damaging	1.00
R2973:Abca7	UTSW	10	79,844,801 (GRCm39)	missense	probably damaging	1.00
R2974:Abca7	UTSW	10	79,844,801 (GRCm39)	missense	probably damaging	1.00
R3055:Abca7	UTSW	10	79,835,581 (GRCm39)	missense	probably damaging	1.00
R4496:Abca7	UTSW	10	79,838,768 (GRCm39)	missense	probably damaging	1.00
R4570:Abca7	UTSW	10	79,842,528 (GRCm39)	missense	probably damaging	1.00
R4581:Abca7	UTSW	10	79,842,402 (GRCm39)	missense	probably benign	0.03
R4588:Abca7	UTSW	10	79,833,701 (GRCm39)	splice site	probably null
R4628:Abca7	UTSW	10	79,851,022 (GRCm39)	critical splice donor site	probably null
R4641:Abca7	UTSW	10	79,841,615 (GRCm39)	critical splice donor site	probably null
R4888:Abca7	UTSW	10	79,838,562 (GRCm39)	missense	probably damaging	0.97
R4911:Abca7	UTSW	10	79,848,022 (GRCm39)	critical splice donor site	probably null
R4979:Abca7	UTSW	10	79,840,617 (GRCm39)	nonsense	probably null
R4997:Abca7	UTSW	10	79,843,154 (GRCm39)	missense	possibly damaging	0.90
R5147:Abca7	UTSW	10	79,851,149 (GRCm39)	missense	probably benign	0.02
R5176:Abca7	UTSW	10	79,834,123 (GRCm39)	missense	probably benign	0.35
R5190:Abca7	UTSW	10	79,835,427 (GRCm39)	critical splice donor site	probably null
R5358:Abca7	UTSW	10	79,849,165 (GRCm39)	missense	probably damaging	0.99
R5409:Abca7	UTSW	10	79,850,154 (GRCm39)	missense	probably damaging	1.00
R5705:Abca7	UTSW	10	79,851,276 (GRCm39)	missense	probably benign
R6246:Abca7	UTSW	10	79,850,999 (GRCm39)	missense	probably damaging	1.00
R6256:Abca7	UTSW	10	79,838,456 (GRCm39)	missense	probably damaging	1.00
R6260:Abca7	UTSW	10	79,844,821 (GRCm39)	missense	probably damaging	1.00
R6275:Abca7	UTSW	10	79,833,625 (GRCm39)	missense	probably damaging	1.00
R6277:Abca7	UTSW	10	79,841,992 (GRCm39)	missense	probably benign	0.04
R6284:Abca7	UTSW	10	79,840,244 (GRCm39)	missense	probably benign
R6307:Abca7	UTSW	10	79,843,221 (GRCm39)	missense	probably damaging	1.00
R6451:Abca7	UTSW	10	79,842,733 (GRCm39)	missense	probably damaging	0.99
R6456:Abca7	UTSW	10	79,850,984 (GRCm39)	missense	probably null	0.69
R6460:Abca7	UTSW	10	79,844,862 (GRCm39)	missense	probably benign	0.04
R6560:Abca7	UTSW	10	79,843,230 (GRCm39)	missense	probably damaging	1.00
R6565:Abca7	UTSW	10	79,847,622 (GRCm39)	missense	probably damaging	1.00
R6644:Abca7	UTSW	10	79,844,598 (GRCm39)	missense	probably damaging	0.98
R6814:Abca7	UTSW	10	79,838,833 (GRCm39)	missense	probably damaging	1.00
R7289:Abca7	UTSW	10	79,845,778 (GRCm39)	missense	probably damaging	1.00
R7303:Abca7	UTSW	10	79,850,822 (GRCm39)	missense	probably benign	0.17
R7493:Abca7	UTSW	10	79,837,896 (GRCm39)	missense	probably damaging	0.96
R7535:Abca7	UTSW	10	79,837,463 (GRCm39)	missense	probably benign	0.04
R7602:Abca7	UTSW	10	79,833,846 (GRCm39)	critical splice acceptor site	probably null
R7607:Abca7	UTSW	10	79,847,667 (GRCm39)	missense	probably damaging	1.00
R7647:Abca7	UTSW	10	79,836,656 (GRCm39)	missense	probably benign	0.00
R7863:Abca7	UTSW	10	79,844,655 (GRCm39)	missense	probably damaging	1.00
R7896:Abca7	UTSW	10	79,840,792 (GRCm39)	missense	probably damaging	1.00
R7911:Abca7	UTSW	10	79,840,867 (GRCm39)	missense	probably benign	0.00
R8114:Abca7	UTSW	10	79,844,874 (GRCm39)	missense	probably damaging	1.00
R8356:Abca7	UTSW	10	79,842,360 (GRCm39)	missense	probably benign	0.05
R8439:Abca7	UTSW	10	79,841,995 (GRCm39)	missense	probably benign	0.03
R8456:Abca7	UTSW	10	79,842,360 (GRCm39)	missense	probably benign	0.05
R8830:Abca7	UTSW	10	79,844,805 (GRCm39)	missense	probably damaging	1.00
R9004:Abca7	UTSW	10	79,841,483 (GRCm39)	missense	probably damaging	1.00
R9066:Abca7	UTSW	10	79,849,188 (GRCm39)	missense	probably damaging	0.98
R9116:Abca7	UTSW	10	79,838,973 (GRCm39)	missense
R9128:Abca7	UTSW	10	79,838,352 (GRCm39)	missense	possibly damaging	0.95
R9141:Abca7	UTSW	10	79,851,264 (GRCm39)	missense	possibly damaging	0.82
R9184:Abca7	UTSW	10	79,838,690 (GRCm39)	missense	probably damaging	0.97
R9246:Abca7	UTSW	10	79,838,535 (GRCm39)	missense	probably damaging	1.00
R9320:Abca7	UTSW	10	79,833,471 (GRCm39)	missense	possibly damaging	0.55
R9426:Abca7	UTSW	10	79,851,264 (GRCm39)	missense	possibly damaging	0.82
R9490:Abca7	UTSW	10	79,834,601 (GRCm39)	missense	probably benign
R9561:Abca7	UTSW	10	79,837,535 (GRCm39)	missense	probably damaging	1.00
R9672:Abca7	UTSW	10	79,838,563 (GRCm39)	missense	probably null	1.00
Z1176:Abca7	UTSW	10	79,842,393 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca7	UTSW	10	79,835,266 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCAATGGACATTTGTGCC -3'
(R):5'- ATTCGTGCCCCAAGCTTCAC -3'

Sequencing Primer
(F):5'- CCAATGGACATTTGTGCCACATG -3'
(R):5'- AGCTTCACTTCACCAGAGGG -3'

Posted On

2019-12-03