Mutagenetix > Incidental Mutation

Incidental Mutation 'R1018:Abca7'

96624

Institutional Source

Beutler Lab

Gene Symbol

Abca7

Ensembl Gene

ENSMUSG00000035722

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 7

Synonyms

Abc51

MMRRC Submission

039122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1018 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

79996494-80015572 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80001491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 403 (C403F)

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: C403F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: C403F

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: C403F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: C403F

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: C403F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: C403F

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

0.5037

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.7%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 40,796,109 (GRCm38)	Q419*	probably null	Het
Ankrd36	C	T	11: 5,646,876 (GRCm38)		probably benign	Het
Arl8b	T	A	6: 108,818,611 (GRCm38)	I170K	probably damaging	Het
Atp5f1	A	T	3: 105,954,172 (GRCm38)	V78E	possibly damaging	Het
Car9	G	T	4: 43,512,439 (GRCm38)		probably null	Het
Cgnl1	A	G	9: 71,726,058 (GRCm38)	Y4H	probably damaging	Het
Cnn2	T	C	10: 79,993,563 (GRCm38)	C176R	probably damaging	Het
Dst	A	G	1: 34,194,093 (GRCm38)	D3392G	probably damaging	Het
Eed	T	C	7: 89,967,811 (GRCm38)		probably benign	Het
Efl1	T	A	7: 82,763,013 (GRCm38)	V870E	possibly damaging	Het
Epx	T	C	11: 87,869,303 (GRCm38)	N495S	probably benign	Het
Fbxw20	T	A	9: 109,221,336 (GRCm38)	Y407F	probably benign	Het
Gbp9	T	A	5: 105,080,260 (GRCm38)	Q552L	probably benign	Het
Hspa13	C	A	16: 75,761,276 (GRCm38)	V134L	possibly damaging	Het
Il16	T	C	7: 83,674,538 (GRCm38)	N268S	probably damaging	Het
Kif14	G	A	1: 136,495,841 (GRCm38)		probably benign	Het
Lrig1	G	A	6: 94,622,602 (GRCm38)		probably benign	Het
Myo7a	T	A	7: 98,107,005 (GRCm38)	D29V	probably damaging	Het
Nsd2	A	G	5: 33,843,241 (GRCm38)	K34R	probably damaging	Het
Olfr1234	C	A	2: 89,363,179 (GRCm38)	L83F	possibly damaging	Het
P3h1	C	A	4: 119,237,907 (GRCm38)	T287K	probably damaging	Het
Pkhd1	A	T	1: 20,201,259 (GRCm38)	H3023Q	possibly damaging	Het
Plxna1	A	G	6: 89,342,960 (GRCm38)	L535P	probably damaging	Het
Ppp1r32	A	T	19: 10,479,460 (GRCm38)		probably benign	Het
Prom1	A	T	5: 44,029,714 (GRCm38)	S400R	probably benign	Het
Psap	T	G	10: 60,300,811 (GRCm38)	L523R	probably damaging	Het
Psme4	C	T	11: 30,804,310 (GRCm38)	T189I	probably damaging	Het
Ptpn12	A	T	5: 21,029,869 (GRCm38)	S39T	possibly damaging	Het
Qtrt2	T	A	16: 43,878,000 (GRCm38)	H98L	possibly damaging	Het
Rad54l2	C	A	9: 106,712,390 (GRCm38)	C601F	probably benign	Het
Sfswap	A	G	5: 129,554,576 (GRCm38)	K756R	possibly damaging	Het
Slc24a5	T	C	2: 125,068,907 (GRCm38)	V86A	probably damaging	Het
Srrm2	T	C	17: 23,822,540 (GRCm38)	S2575P	probably damaging	Het
Stam	T	C	2: 14,117,374 (GRCm38)		probably benign	Het
Tbx6	T	A	7: 126,783,192 (GRCm38)		probably benign	Het
Tmem131	A	C	1: 36,794,819 (GRCm38)	F1727V	probably damaging	Het
Tpr	T	A	1: 150,442,183 (GRCm38)	H2147Q	possibly damaging	Het
Trio	T	A	15: 27,871,171 (GRCm38)	H620L	probably damaging	Het
Uba5	T	C	9: 104,049,903 (GRCm38)	T292A	probably benign	Het
Unc5a	T	A	13: 54,990,952 (GRCm38)	V48E	possibly damaging	Het
Upf1	G	T	8: 70,338,906 (GRCm38)	H514Q	possibly damaging	Het
Usp9y	A	G	Y: 1,341,414 (GRCm38)		probably benign	Het
Vmn2r6	T	A	3: 64,556,840 (GRCm38)	D191V	probably benign	Het
Wapl	T	C	14: 34,691,906 (GRCm38)	Y242H	possibly damaging	Het
Zfp341	A	T	2: 154,646,052 (GRCm38)	N812Y	probably damaging	Het
Zfp358	C	A	8: 3,496,843 (GRCm38)	S475*	probably null	Het
Zfp957	C	A	14: 79,212,742 (GRCm38)	C539F	probably damaging	Het

Other mutations in Abca7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Abca7	APN	10	80,011,297 (GRCm38)	missense	probably damaging	0.96
IGL01074:Abca7	APN	10	80,013,892 (GRCm38)	missense	possibly damaging	0.88
IGL01313:Abca7	APN	10	80,003,123 (GRCm38)	splice site	probably benign
IGL01372:Abca7	APN	10	80,006,255 (GRCm38)	missense	probably benign	0.00
IGL01387:Abca7	APN	10	79,999,762 (GRCm38)	missense	possibly damaging	0.71
IGL01468:Abca7	APN	10	80,003,877 (GRCm38)	missense	probably benign	0.21
IGL01648:Abca7	APN	10	80,011,080 (GRCm38)	missense	probably damaging	1.00
IGL01796:Abca7	APN	10	80,013,909 (GRCm38)	missense	probably damaging	0.99
IGL01977:Abca7	APN	10	80,006,152 (GRCm38)	missense	probably benign	0.31
IGL01982:Abca7	APN	10	80,002,641 (GRCm38)	missense	probably damaging	1.00
IGL02115:Abca7	APN	10	79,998,079 (GRCm38)	missense	probably damaging	1.00
IGL02437:Abca7	APN	10	80,008,389 (GRCm38)	missense	probably damaging	1.00
IGL02721:Abca7	APN	10	80,013,635 (GRCm38)	missense	possibly damaging	0.93
IGL02812:Abca7	APN	10	80,006,047 (GRCm38)	missense	possibly damaging	0.84
IGL02823:Abca7	APN	10	80,008,822 (GRCm38)	missense	probably damaging	1.00
IGL02827:Abca7	APN	10	80,009,865 (GRCm38)	missense	probably damaging	1.00
IGL02897:Abca7	APN	10	80,001,592 (GRCm38)	missense	probably damaging	1.00
IGL02952:Abca7	APN	10	80,007,408 (GRCm38)	missense	probably damaging	1.00
R0507:Abca7	UTSW	10	80,002,821 (GRCm38)	splice site	probably benign
R0528:Abca7	UTSW	10	80,003,014 (GRCm38)	missense	probably damaging	1.00
R0541:Abca7	UTSW	10	80,007,351 (GRCm38)	missense	probably benign	0.01
R0584:Abca7	UTSW	10	80,011,730 (GRCm38)	missense	probably damaging	1.00
R1099:Abca7	UTSW	10	80,013,743 (GRCm38)	nonsense	probably null
R1520:Abca7	UTSW	10	80,008,830 (GRCm38)	missense	possibly damaging	0.69
R1536:Abca7	UTSW	10	80,014,230 (GRCm38)	missense	probably benign	0.39
R1619:Abca7	UTSW	10	80,009,055 (GRCm38)	missense	probably damaging	1.00
R1636:Abca7	UTSW	10	80,008,998 (GRCm38)	missense	probably benign
R1752:Abca7	UTSW	10	80,006,634 (GRCm38)	missense	probably benign	0.17
R1762:Abca7	UTSW	10	79,999,765 (GRCm38)	missense	probably damaging	1.00
R1764:Abca7	UTSW	10	80,008,950 (GRCm38)	missense	probably damaging	1.00
R1891:Abca7	UTSW	10	80,005,040 (GRCm38)	missense	possibly damaging	0.72
R1911:Abca7	UTSW	10	80,006,634 (GRCm38)	missense	probably benign	0.17
R2032:Abca7	UTSW	10	80,008,237 (GRCm38)	missense	probably damaging	1.00
R2188:Abca7	UTSW	10	80,002,533 (GRCm38)	missense	probably damaging	1.00
R2973:Abca7	UTSW	10	80,008,967 (GRCm38)	missense	probably damaging	1.00
R2974:Abca7	UTSW	10	80,008,967 (GRCm38)	missense	probably damaging	1.00
R3055:Abca7	UTSW	10	79,999,747 (GRCm38)	missense	probably damaging	1.00
R4496:Abca7	UTSW	10	80,002,934 (GRCm38)	missense	probably damaging	1.00
R4570:Abca7	UTSW	10	80,006,694 (GRCm38)	missense	probably damaging	1.00
R4581:Abca7	UTSW	10	80,006,568 (GRCm38)	missense	probably benign	0.03
R4588:Abca7	UTSW	10	79,997,867 (GRCm38)	splice site	probably null
R4628:Abca7	UTSW	10	80,015,188 (GRCm38)	critical splice donor site	probably null
R4641:Abca7	UTSW	10	80,005,781 (GRCm38)	critical splice donor site	probably null
R4888:Abca7	UTSW	10	80,002,728 (GRCm38)	missense	probably damaging	0.97
R4911:Abca7	UTSW	10	80,012,188 (GRCm38)	critical splice donor site	probably null
R4979:Abca7	UTSW	10	80,004,783 (GRCm38)	nonsense	probably null
R4997:Abca7	UTSW	10	80,007,320 (GRCm38)	missense	possibly damaging	0.90
R5147:Abca7	UTSW	10	80,015,315 (GRCm38)	missense	probably benign	0.02
R5176:Abca7	UTSW	10	79,998,289 (GRCm38)	missense	probably benign	0.35
R5190:Abca7	UTSW	10	79,999,593 (GRCm38)	critical splice donor site	probably null
R5358:Abca7	UTSW	10	80,013,331 (GRCm38)	missense	probably damaging	0.99
R5409:Abca7	UTSW	10	80,014,320 (GRCm38)	missense	probably damaging	1.00
R5705:Abca7	UTSW	10	80,015,442 (GRCm38)	missense	probably benign
R6246:Abca7	UTSW	10	80,015,165 (GRCm38)	missense	probably damaging	1.00
R6256:Abca7	UTSW	10	80,002,622 (GRCm38)	missense	probably damaging	1.00
R6260:Abca7	UTSW	10	80,008,987 (GRCm38)	missense	probably damaging	1.00
R6275:Abca7	UTSW	10	79,997,791 (GRCm38)	missense	probably damaging	1.00
R6277:Abca7	UTSW	10	80,006,158 (GRCm38)	missense	probably benign	0.04
R6284:Abca7	UTSW	10	80,004,410 (GRCm38)	missense	probably benign
R6307:Abca7	UTSW	10	80,007,387 (GRCm38)	missense	probably damaging	1.00
R6451:Abca7	UTSW	10	80,006,899 (GRCm38)	missense	probably damaging	0.99
R6456:Abca7	UTSW	10	80,015,150 (GRCm38)	missense	probably null	0.69
R6460:Abca7	UTSW	10	80,009,028 (GRCm38)	missense	probably benign	0.04
R6560:Abca7	UTSW	10	80,007,396 (GRCm38)	missense	probably damaging	1.00
R6565:Abca7	UTSW	10	80,011,788 (GRCm38)	missense	probably damaging	1.00
R6644:Abca7	UTSW	10	80,008,764 (GRCm38)	missense	probably damaging	0.98
R6814:Abca7	UTSW	10	80,002,999 (GRCm38)	missense	probably damaging	1.00
R7289:Abca7	UTSW	10	80,009,944 (GRCm38)	missense	probably damaging	1.00
R7303:Abca7	UTSW	10	80,014,988 (GRCm38)	missense	probably benign	0.17
R7493:Abca7	UTSW	10	80,002,062 (GRCm38)	missense	probably damaging	0.96
R7535:Abca7	UTSW	10	80,001,629 (GRCm38)	missense	probably benign	0.04
R7602:Abca7	UTSW	10	79,998,012 (GRCm38)	critical splice acceptor site	probably null
R7607:Abca7	UTSW	10	80,011,833 (GRCm38)	missense	probably damaging	1.00
R7647:Abca7	UTSW	10	80,000,822 (GRCm38)	missense	probably benign	0.00
R7821:Abca7	UTSW	10	80,002,590 (GRCm38)	small deletion	probably benign
R7863:Abca7	UTSW	10	80,008,821 (GRCm38)	missense	probably damaging	1.00
R7896:Abca7	UTSW	10	80,004,958 (GRCm38)	missense	probably damaging	1.00
R7911:Abca7	UTSW	10	80,005,033 (GRCm38)	missense	probably benign	0.00
R8114:Abca7	UTSW	10	80,009,040 (GRCm38)	missense	probably damaging	1.00
R8356:Abca7	UTSW	10	80,006,526 (GRCm38)	missense	probably benign	0.05
R8439:Abca7	UTSW	10	80,006,161 (GRCm38)	missense	probably benign	0.03
R8456:Abca7	UTSW	10	80,006,526 (GRCm38)	missense	probably benign	0.05
R8830:Abca7	UTSW	10	80,008,971 (GRCm38)	missense	probably damaging	1.00
R9004:Abca7	UTSW	10	80,005,649 (GRCm38)	missense	probably damaging	1.00
R9066:Abca7	UTSW	10	80,013,354 (GRCm38)	missense	probably damaging	0.98
R9116:Abca7	UTSW	10	80,003,139 (GRCm38)	missense
R9128:Abca7	UTSW	10	80,002,518 (GRCm38)	missense	possibly damaging	0.95
R9141:Abca7	UTSW	10	80,015,430 (GRCm38)	missense	possibly damaging	0.82
R9184:Abca7	UTSW	10	80,002,856 (GRCm38)	missense	probably damaging	0.97
R9246:Abca7	UTSW	10	80,002,701 (GRCm38)	missense	probably damaging	1.00
R9320:Abca7	UTSW	10	79,997,637 (GRCm38)	missense	possibly damaging	0.55
R9426:Abca7	UTSW	10	80,015,430 (GRCm38)	missense	possibly damaging	0.82
R9490:Abca7	UTSW	10	79,998,767 (GRCm38)	missense	probably benign
R9561:Abca7	UTSW	10	80,001,701 (GRCm38)	missense	probably damaging	1.00
R9672:Abca7	UTSW	10	80,002,729 (GRCm38)	missense	probably null	1.00
Z1176:Abca7	UTSW	10	80,006,559 (GRCm38)	missense	probably damaging	1.00
Z1176:Abca7	UTSW	10	79,999,432 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGCCTTTCTCCCGAATGATCCTG -3'
(R):5'- CCTCCAATAGCCACGGTCTTGAAC -3'

Sequencing Primer
(F):5'- CCCGAATGATCCTGTCTTGGAG -3'
(R):5'- GTGACATCATCGATATCCATTCG -3'

Posted On

2014-01-05