Mutagenetix > Incidental Mutation

Incidental Mutation 'R2974:Abca7'

255324

Institutional Source

Beutler Lab

Gene Symbol

Abca7

Ensembl Gene

ENSMUSG00000035722

Gene Name

ATP-binding cassette, sub-family A member 7

Synonyms

Abc51

MMRRC Submission

040527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79832328-79851406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 79844801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 1508 (F1508V)

Ref Sequence

ENSEMBL: ENSMUSP00000128121 (fasta)

Gene Model

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

AlphaFold

Q91V24

Predicted Effect

probably damaging
Transcript: ENSMUST00000043866
AA Change: F1500V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: F1500V

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 damaging
Transcript: ENSMUST00000132517
AA Change: F1500V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: F1500V

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 damaging
Transcript: ENSMUST00000171637
AA Change: F1508V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: F1508V

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

Meta Mutation Damage Score

0.6253

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (38/39)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	A	G	6: 48,953,358 (GRCm39)	T428A	probably benign	Het
BC048507	T	C	13: 68,011,749 (GRCm39)	I42T	probably benign	Het
Cop1	A	G	1: 159,152,499 (GRCm39)	H583R	possibly damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
Cstdc2	T	C	2: 148,692,706 (GRCm39)	D32G	probably benign	Het
Ctu1	A	G	7: 43,325,074 (GRCm39)		probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,361 (GRCm39)		probably null	Het
Dnah14	A	T	1: 181,582,806 (GRCm39)		probably null	Het
Dpp10	A	G	1: 123,339,434 (GRCm39)		probably benign	Het
Gsdme	A	G	6: 50,206,304 (GRCm39)	C180R	probably damaging	Het
Gse1	C	A	8: 121,297,636 (GRCm39)		probably benign	Het
Med15	T	C	16: 17,470,575 (GRCm39)	Y744C	probably damaging	Het
Nlrp4d	A	G	7: 10,112,367 (GRCm39)		probably benign	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or4p21	A	T	2: 88,276,918 (GRCm39)	C121*	probably null	Het
Or8g30	T	C	9: 39,230,292 (GRCm39)	N206S	probably damaging	Het
Phax	T	A	18: 56,706,134 (GRCm39)	M8K	probably benign	Het
Plec	C	G	15: 76,072,961 (GRCm39)	G631R	probably damaging	Het
Rgs3	A	T	4: 62,558,957 (GRCm39)	T476S	probably damaging	Het
Rogdi	G	T	16: 4,829,526 (GRCm39)	Q90K	probably damaging	Het
Rxrg	G	A	1: 167,466,715 (GRCm39)	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Simc1	A	G	13: 54,698,274 (GRCm39)	D397G	probably damaging	Het
Slc25a27	T	C	17: 43,964,262 (GRCm39)	N203D	probably damaging	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Tnip1	C	T	11: 54,824,809 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,449 (GRCm39)	E69G	probably damaging	Het
Trpv5	T	C	6: 41,630,165 (GRCm39)	S642G	possibly damaging	Het
Ube2d2a	T	A	18: 35,933,225 (GRCm39)	D87E	possibly damaging	Het
Vmn2r117	A	G	17: 23,678,830 (GRCm39)	V798A	probably damaging	Het
Vmn2r77	T	C	7: 86,452,893 (GRCm39)	Y537H	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
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
R7821:Abca7	UTSW	10	79,838,424 (GRCm39)	small deletion	probably benign
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'- GGAATGCGCTAGACCGTATC -3'
(R):5'- AGAAAGGTTCCAATCCAGTCTCC -3'

Sequencing Primer
(F):5'- TGCGCTAGACCGTATCCTGAAC -3'
(R):5'- GTCTCCACCACCCCTGAG -3'

Posted On

2014-12-29