Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02115:Abca7'

280344

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 #

IGL02115

Quality Score

Status

Chromosome

Chromosomal Location

79832328-79851406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79833913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 76 (N76Y)

Ref Sequence

ENSEMBL: ENSMUSP00000128121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004784] [ENSMUST00000043866] [ENSMUST00000105374] [ENSMUST00000132517] [ENSMUST00000171637]

AlphaFold

Q91V24

Predicted Effect

probably benign
Transcript: ENSMUST00000004784

SMART Domains

Protein: ENSMUSP00000004784
Gene: ENSMUSG00000004665

Domain	Start	End	E-Value	Type
CH	30	127	1.82e-22	SMART
Pfam:Calponin	166	190	6e-20	PFAM
Pfam:Calponin	206	230	6e-20	PFAM
Pfam:Calponin	245	268	2.6e-10	PFAM
low complexity region	276	294	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000043866
AA Change: N76Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: N76Y

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: ENSMUST00000105374

SMART Domains

Protein: ENSMUSP00000101013
Gene: ENSMUSG00000004665

Domain	Start	End	E-Value	Type
CH	30	127	1.82e-22	SMART
Pfam:Calponin	130	152	7.6e-15	PFAM
Pfam:Calponin	167	192	4.1e-16	PFAM
Pfam:Calponin	206	230	6.4e-15	PFAM
low complexity region	237	255	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132517
AA Change: N76Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: N76Y

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: N76Y

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

SMART Domains

Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: N76Y

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	A	T	7: 124,930,781 (GRCm39)		noncoding transcript	Het
Apob	A	G	12: 8,042,923 (GRCm39)	K755R	probably benign	Het
BC034090	A	T	1: 155,108,397 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,680,635 (GRCm39)	T632A	probably benign	Het
Cdcp1	C	A	9: 123,014,462 (GRCm39)	C104F	probably damaging	Het
Cfap206	C	T	4: 34,722,623 (GRCm39)	V153I	possibly damaging	Het
Chd1l	A	T	3: 97,497,220 (GRCm39)		probably null	Het
Ckb	A	G	12: 111,636,415 (GRCm39)	F271L	possibly damaging	Het
Col6a3	T	A	1: 90,735,373 (GRCm39)	I759L	probably damaging	Het
Ddr2	A	T	1: 169,822,278 (GRCm39)	M390K	probably benign	Het
Dhx8	C	T	11: 101,643,214 (GRCm39)	P762L	probably damaging	Het
Dnah3	A	T	7: 119,628,277 (GRCm39)	V1449E	probably damaging	Het
Dzip3	T	C	16: 48,768,848 (GRCm39)	I629M	probably benign	Het
Ep300	T	C	15: 81,533,019 (GRCm39)	I1692T	unknown	Het
Ercc6	T	A	14: 32,298,950 (GRCm39)	L1446Q	probably damaging	Het
Gm10092	T	C	16: 35,957,993 (GRCm39)		noncoding transcript	Het
Gm6900	A	T	7: 10,390,503 (GRCm39)		noncoding transcript	Het
Gpr149	T	C	3: 62,502,336 (GRCm39)	T507A	probably benign	Het
Hmcn1	T	A	1: 150,506,479 (GRCm39)	D3776V	probably damaging	Het
Irgm2	A	G	11: 58,110,948 (GRCm39)	E225G	probably benign	Het
Kif14	T	C	1: 136,424,305 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,594,459 (GRCm39)	V196A	probably damaging	Het
Lig4	T	C	8: 10,023,247 (GRCm39)	S178G	possibly damaging	Het
Lzts2	A	G	19: 45,014,809 (GRCm39)		probably benign	Het
Mcoln3	C	T	3: 145,843,056 (GRCm39)	S380L	probably damaging	Het
Med12l	A	T	3: 58,975,740 (GRCm39)	T223S	probably benign	Het
Mrpl54	A	G	10: 81,101,483 (GRCm39)		probably null	Het
Myo1c	A	T	11: 75,552,417 (GRCm39)	I397F	probably damaging	Het
Nbas	A	T	12: 13,367,693 (GRCm39)		probably benign	Het
Ncoa2	G	A	1: 13,223,041 (GRCm39)	H1195Y	probably damaging	Het
Nol3	A	G	8: 106,006,263 (GRCm39)	M171V	probably benign	Het
Or2l5	A	T	16: 19,333,853 (GRCm39)	C178S	probably damaging	Het
Or52s1	A	G	7: 102,861,681 (GRCm39)	T194A	probably damaging	Het
Pdpr	C	T	8: 111,830,630 (GRCm39)	L107F	probably damaging	Het
Ppfibp2	G	A	7: 107,338,525 (GRCm39)		probably benign	Het
Rusc2	T	C	4: 43,426,136 (GRCm39)		probably benign	Het
Sdk2	G	T	11: 113,725,639 (GRCm39)		probably benign	Het
Sema7a	T	C	9: 57,868,183 (GRCm39)	C539R	probably damaging	Het
Senp6	T	C	9: 80,029,208 (GRCm39)	C524R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc15a1	A	T	14: 121,718,073 (GRCm39)	Y269N	possibly damaging	Het
Synj2	T	A	17: 6,067,865 (GRCm39)	Y113N	probably damaging	Het
Tm6sf1	A	T	7: 81,525,551 (GRCm39)	Y172F	probably damaging	Het
Trpv4	T	C	5: 114,763,090 (GRCm39)	D773G	probably damaging	Het
Ttc39a	A	G	4: 109,283,491 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,676 (GRCm39)	R588W	probably damaging	Het
Unc79	A	T	12: 102,964,933 (GRCm39)	Y74F	probably damaging	Het
Usp53	A	T	3: 122,741,039 (GRCm39)	I737K	probably benign	Het
Vmn2r67	A	T	7: 84,800,787 (GRCm39)	M383K	probably damaging	Het
Zc3h4	A	G	7: 16,159,708 (GRCm39)	D426G	unknown	Het
Zfp622	A	G	15: 25,987,286 (GRCm39)	N308S	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
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
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

2015-04-16