Mutagenetix > Incidental Mutation

Incidental Mutation 'R9184:Abca7'

697254

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

068979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79996494-80015572 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80002856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 621 (H621R)

Ref Sequence

ENSEMBL: ENSMUSP00000128121 (fasta)

Gene Model

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

AlphaFold

Q91V24

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043866
AA Change: H621R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: H621R

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

possibly damaging
Transcript: ENSMUST00000132517
AA Change: H621R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: H621R

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: H621R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: H621R

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: 99.4%

Validation Efficiency

97% (60/62)

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
2610507B11Rik	T	C	11: 78,271,388 (GRCm38)	L692S	probably damaging	Het
6030452D12Rik	T	C	8: 106,507,269 (GRCm38)	V199A	unknown	Het
Adam18	T	A	8: 24,647,831 (GRCm38)	N331I	probably benign	Het
Akt1	A	G	12: 112,654,718 (GRCm38)	S475P	possibly damaging	Het
Arc	A	G	15: 74,671,930 (GRCm38)	V148A	probably damaging	Het
Atg2a	T	C	19: 6,241,857 (GRCm38)	L21P	probably damaging	Het
C1qtnf2	T	C	11: 43,474,353 (GRCm38)	V25A	probably benign	Het
Cald1	G	T	6: 34,753,577 (GRCm38)	E244D	unknown	Het
Cdc42bpa	T	A	1: 180,144,736 (GRCm38)	F1368I	probably benign	Het
Cfap61	G	A	2: 146,077,388 (GRCm38)	C680Y	probably null	Het
Chd1	T	A	17: 15,742,289 (GRCm38)	N769K	possibly damaging	Het
Clasp1	T	A	1: 118,543,178 (GRCm38)	V848E	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm38)		probably benign	Het
Ctsb	G	T	14: 63,138,095 (GRCm38)	G170V	probably damaging	Het
Dnah5	A	G	15: 28,340,406 (GRCm38)	K2320E	probably benign	Het
Fat4	A	T	3: 38,982,443 (GRCm38)	I3415F	probably damaging	Het
Fibcd1	A	G	2: 31,816,476 (GRCm38)	S448P	probably damaging	Het
Filip1	T	C	9: 79,898,260 (GRCm38)	K71E	probably benign	Het
Gad2	G	A	2: 22,668,319 (GRCm38)	V350I	probably benign	Het
Gigyf2	T	A	1: 87,440,589 (GRCm38)	S1032T	possibly damaging	Het
Glis3	T	C	19: 28,531,607 (GRCm38)	T326A	probably damaging	Het
Hspa9	C	T	18: 34,949,115 (GRCm38)	R146H	possibly damaging	Het
Jakmip2	A	G	18: 43,582,287 (GRCm38)	I58T	probably benign	Het
Kcnk15	G	A	2: 163,858,686 (GRCm38)	V282M	probably benign	Het
Klk1b8	A	G	7: 43,952,734 (GRCm38)	N30S	probably benign	Het
Lpin2	T	A	17: 71,233,916 (GRCm38)	Y454*	probably null	Het
Mcam	T	C	9: 44,135,248 (GRCm38)		probably benign	Het
Mms22l	T	C	4: 24,596,182 (GRCm38)	L1047S	probably damaging	Het
Neb	A	G	2: 52,328,755 (GRCm38)	I81T	possibly damaging	Het
Neurod4	A	T	10: 130,271,089 (GRCm38)	D105E	probably damaging	Het
Nlrp1b	A	G	11: 71,181,241 (GRCm38)	L592P	probably damaging	Het
Nnt	C	A	13: 119,381,734 (GRCm38)	K302N	probably damaging	Het
Notch4	T	C	17: 34,587,390 (GRCm38)	F1767S	probably damaging	Het
Olfr1195	C	A	2: 88,683,175 (GRCm38)	A186S	possibly damaging	Het
Olfr48	T	A	2: 89,844,950 (GRCm38)	I8F	probably benign	Het
Olfr828	T	C	9: 18,815,842 (GRCm38)	I151V	probably benign	Het
Pcdhga4	A	T	18: 37,687,407 (GRCm38)	I670F	possibly damaging	Het
Pdp1	T	C	4: 11,962,143 (GRCm38)	E75G	possibly damaging	Het
Pds5b	T	A	5: 150,800,784 (GRCm38)	N1275K	probably benign	Het
Pink1	G	T	4: 138,321,010 (GRCm38)	Q134K	probably benign	Het
Poli	T	A	18: 70,509,179 (GRCm38)	H650L	probably damaging	Het
Prickle2	G	A	6: 92,411,524 (GRCm38)	P355L	possibly damaging	Het
Prkaca	G	A	8: 83,990,676 (GRCm38)	G194D	probably benign	Het
Ptgs2	A	T	1: 150,104,424 (GRCm38)	Y371F	probably damaging	Het
Rarb	C	T	14: 16,818,881 (GRCm38)		probably benign	Het
Rarb	T	A	14: 16,818,882 (GRCm38)		probably benign	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,571,292 (GRCm38)		probably benign	Het
Serpinb1b	T	G	13: 33,085,410 (GRCm38)	V42G	probably damaging	Het
Sgsm2	T	A	11: 74,892,008 (GRCm38)	I41F	possibly damaging	Het
Slc26a5	T	A	5: 21,813,882 (GRCm38)	D653V	probably damaging	Het
Slc26a7	C	T	4: 14,506,630 (GRCm38)	V602M	possibly damaging	Het
Slu7	T	C	11: 43,443,397 (GRCm38)	S417P	probably damaging	Het
Smad2	T	A	18: 76,289,100 (GRCm38)	D194E	probably benign	Het
Sntg1	A	T	1: 8,677,832 (GRCm38)	V112E	probably damaging	Het
Strip1	A	T	3: 107,614,663 (GRCm38)	M733K	probably benign	Het
Szt2	G	A	4: 118,384,529 (GRCm38)	S1655L	possibly damaging	Het
Ttn	A	T	2: 76,769,605 (GRCm38)	I19075N	probably benign	Het
Urb2	C	T	8: 124,045,151 (GRCm38)	T1437I	probably benign	Het
Vmn2r111	T	A	17: 22,571,841 (GRCm38)	I159F	probably benign	Het
Zfp78	T	C	7: 6,379,301 (GRCm38)	V450A	probably damaging	Het
Zmynd11	T	A	13: 9,693,439 (GRCm38)	H314L	probably benign	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
R1018:Abca7	UTSW	10	80,001,491 (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
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'- AGAAACCATGCGTGCGATGG -3'
(R):5'- TTACCGCAGCTAAGAGTCCG -3'

Sequencing Primer
(F):5'- GGTTGGTTCCTCAGCTGCC -3'
(R):5'- AGCTAAGAGTCCGCCCAG -3'

Posted On

2022-02-07