Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01977:Abca7'

181725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca7

Ensembl Gene

ENSMUSG00000035722

Gene Name

ATP-binding cassette, sub-family A member 7

Synonyms

Abc51

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01977

Quality Score

Status

Chromosome

Chromosomal Location

79832328-79851406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79841986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1040 (S1040T)

Ref Sequence

ENSEMBL: ENSMUSP00000115111 (fasta)

Gene Model

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

AlphaFold

Q91V24

Predicted Effect

probably benign
Transcript: ENSMUST00000043866
AA Change: S1040T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: S1040T

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
AA Change: S1040T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: S1040T

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
AA Change: S1040T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: S1040T

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

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	C	8: 41,208,134 (GRCm39)	Y467H	probably benign	Het
Ank1	A	G	8: 23,605,449 (GRCm39)	I1061V	probably benign	Het
Anxa10	T	C	8: 62,529,348 (GRCm39)	E123G	probably damaging	Het
Arhgap35	G	A	7: 16,297,128 (GRCm39)	L646F	probably damaging	Het
Atp8b5	A	G	4: 43,320,590 (GRCm39)		probably null	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,730,993 (GRCm39)	T87A	probably damaging	Het
Ccdc172	A	G	19: 58,541,309 (GRCm39)	D256G	possibly damaging	Het
Cep350	C	T	1: 155,787,714 (GRCm39)	A1375T	probably benign	Het
Chrdl2	A	T	7: 99,671,263 (GRCm39)	Q127L	probably benign	Het
Cyp2c29	T	C	19: 39,279,341 (GRCm39)		probably benign	Het
Ddi1	C	A	9: 6,266,226 (GRCm39)	V48F	probably benign	Het
Ddrgk1	C	T	2: 130,497,166 (GRCm39)		probably benign	Het
Fastkd1	C	T	2: 69,524,932 (GRCm39)	V626I	possibly damaging	Het
Fgd5	A	G	6: 92,001,543 (GRCm39)	T755A	probably benign	Het
Fpgt	G	T	3: 154,793,655 (GRCm39)	T124K	probably damaging	Het
Gnl2	G	A	4: 124,941,405 (GRCm39)		probably null	Het
Got1	A	T	19: 43,504,284 (GRCm39)	S46T	probably benign	Het
Hbb-bt	G	T	7: 103,463,070 (GRCm39)	H3N	probably benign	Het
Ikbke	C	T	1: 131,199,838 (GRCm39)		probably benign	Het
Il2rb	A	G	15: 78,365,897 (GRCm39)	S467P	probably benign	Het
Kcnma1	A	G	14: 23,580,367 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,876,973 (GRCm39)	N391D	probably damaging	Het
Npr3	A	T	15: 11,858,804 (GRCm39)	I360N	probably damaging	Het
Nradd	G	A	9: 110,451,237 (GRCm39)	P44S	possibly damaging	Het
Or5m10	G	T	2: 85,717,711 (GRCm39)	C189F	probably damaging	Het
Or7h8	G	A	9: 20,123,755 (GRCm39)	V37I	possibly damaging	Het
Pcdh17	A	G	14: 84,770,537 (GRCm39)	E1005G	possibly damaging	Het
Pcdhb11	A	G	18: 37,555,344 (GRCm39)	T225A	possibly damaging	Het
Pja2	T	C	17: 64,604,821 (GRCm39)	D454G	probably benign	Het
Pon3	T	C	6: 5,221,670 (GRCm39)	Y320C	probably damaging	Het
Prl2a1	A	G	13: 27,990,261 (GRCm39)	D70G	probably damaging	Het
Proc	T	A	18: 32,260,472 (GRCm39)	T218S	probably benign	Het
Proz	G	T	8: 13,116,913 (GRCm39)	G155V	probably damaging	Het
Rab11fip3	T	C	17: 26,286,977 (GRCm39)	E392G	possibly damaging	Het
Rab3gap2	C	T	1: 184,999,220 (GRCm39)	R976*	probably null	Het
Shisa2	G	A	14: 59,867,435 (GRCm39)	C229Y	probably damaging	Het
Slc2a5	T	C	4: 150,226,675 (GRCm39)	V379A	probably damaging	Het
Slc31a2	A	T	4: 62,214,197 (GRCm39)	K47N	probably damaging	Het
Sult2a6	G	A	7: 13,987,411 (GRCm39)	T88I	probably benign	Het
Tbc1d14	T	C	5: 36,662,381 (GRCm39)	Y302C	probably damaging	Het
Thumpd3	C	A	6: 113,036,927 (GRCm39)	N275K	possibly damaging	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tube1	G	A	10: 39,011,041 (GRCm39)		probably benign	Het
Umodl1	T	A	17: 31,192,742 (GRCm39)	Y290N	probably damaging	Het
Usp34	G	A	11: 23,402,661 (GRCm39)	E726K	probably damaging	Het
Vmn2r84	T	A	10: 130,229,935 (GRCm39)	D59V	probably benign	Het
Vps11	T	A	9: 44,267,516 (GRCm39)		probably benign	Het
Wdr19	T	C	5: 65,385,912 (GRCm39)	Y631H	probably benign	Het
Wdr62	G	A	7: 29,957,526 (GRCm39)	H88Y	probably damaging	Het
Wdr93	A	T	7: 79,402,253 (GRCm39)	N184I	probably damaging	Het
Wnk4	T	A	11: 101,156,240 (GRCm39)	F473Y	probably damaging	Het
Zbtb16	A	G	9: 48,568,483 (GRCm39)	W661R	probably damaging	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
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
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

Posted On

2014-05-07