Mutagenetix > Incidental Mutation

Incidental Mutation 'R9561:Abca7'

721020

Institutional Source

Beutler Lab

Gene Symbol

Abca7

Ensembl Gene

ENSMUSG00000035722

Gene Name

ATP-binding cassette, sub-family A member 7

Synonyms

Abc51

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79832328-79851406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79837535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 473 (T473I)

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: T473I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: T473I

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: T473I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: T473I

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: T473I

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

SMART Domains

Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: T473I

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: 99.9%
10x: 99.7%
20x: 99.0%

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
4930562C15Rik	A	G	16: 4,680,980 (GRCm39)	I106V	possibly damaging	Het
Aars1	C	A	8: 111,763,615 (GRCm39)	F18L	probably damaging	Het
Ap1m2	A	T	9: 21,209,524 (GRCm39)	I384N	probably damaging	Het
Atg16l2	G	A	7: 100,948,248 (GRCm39)	Q99*	probably null	Het
Bptf	A	T	11: 106,964,954 (GRCm39)	Y1413*	probably null	Het
Cat	T	C	2: 103,307,250 (GRCm39)	T28A	probably damaging	Het
Ccdc65	T	A	15: 98,620,759 (GRCm39)	V418D	probably benign	Het
Cd226	A	C	18: 89,265,444 (GRCm39)	I241L	probably benign	Het
Crybg1	A	G	10: 43,873,428 (GRCm39)	S1227P	probably benign	Het
Csn2	C	T	5: 87,842,794 (GRCm39)	A78T	probably benign	Het
Cyp21a1	T	A	17: 35,021,652 (GRCm39)	H305L	possibly damaging	Het
Ddx55	A	G	5: 124,706,707 (GRCm39)	E572G	possibly damaging	Het
Dguok	A	G	6: 83,467,548 (GRCm39)	Y100H	probably damaging	Het
Dync1h1	T	A	12: 110,615,533 (GRCm39)	S2955R	probably damaging	Het
Etfbkmt	A	T	6: 149,045,640 (GRCm39)		probably benign	Het
Fam222a	T	A	5: 114,749,347 (GRCm39)	I181N	probably damaging	Het
Fam24b	T	C	7: 130,927,877 (GRCm39)	D104G	probably benign	Het
Fbn2	A	T	18: 58,181,611 (GRCm39)	C1883*	probably null	Het
Fchsd2	T	G	7: 100,920,778 (GRCm39)	L461R	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Hectd4	G	A	5: 121,472,532 (GRCm39)	R2756Q	possibly damaging	Het
Ints14	A	G	9: 64,882,932 (GRCm39)	D261G	probably damaging	Het
Mapkapk5	C	T	5: 121,672,490 (GRCm39)	A163T	probably benign	Het
Micu3	A	T	8: 40,835,156 (GRCm39)	K504*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh7	C	A	14: 55,216,146 (GRCm39)	R1289L	probably damaging	Het
Neb	G	T	2: 52,132,068 (GRCm39)	H280Q		Het
Nrbp1	T	A	5: 31,404,771 (GRCm39)		probably null	Het
Oacyl	T	A	18: 65,831,414 (GRCm39)	V17D	possibly damaging	Het
Obsl1	C	A	1: 75,480,157 (GRCm39)	R463L	possibly damaging	Het
Or1f19	T	A	16: 3,410,725 (GRCm39)	L155Q	probably damaging	Het
Or8b40	G	A	9: 38,028,010 (GRCm39)	S311N	probably benign	Het
Pcnt	A	T	10: 76,217,128 (GRCm39)	C2184*	probably null	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phrf1	T	G	7: 140,834,815 (GRCm39)	S198A	unknown	Het
Plekhg2	C	G	7: 28,064,249 (GRCm39)	A431P	probably damaging	Het
Ppp1r13b	C	T	12: 111,810,077 (GRCm39)	D244N	probably damaging	Het
Raph1	T	C	1: 60,564,887 (GRCm39)	E200G	possibly damaging	Het
Rnf6	A	G	5: 146,147,936 (GRCm39)	S361P	probably benign	Het
Scgb2b19	G	A	7: 32,978,039 (GRCm39)	A86V	probably benign	Het
Sec23b	T	A	2: 144,408,728 (GRCm39)	C138S	possibly damaging	Het
Slco1c1	T	C	6: 141,505,606 (GRCm39)	S511P	possibly damaging	Het
Tas2r130	A	G	6: 131,607,175 (GRCm39)	S207P	probably damaging	Het
Tdpoz1	A	T	3: 93,578,540 (GRCm39)	H81Q	probably benign	Het
Usp8	A	G	2: 126,578,414 (GRCm39)	K289E	probably damaging	Het
Vmn1r18	A	C	6: 57,367,202 (GRCm39)	N117K	probably benign	Het
Vps13c	G	T	9: 67,872,794 (GRCm39)	G3270V	probably damaging	Het
Wdr20	A	G	12: 110,760,187 (GRCm39)	T358A	probably benign	Het
Wwc1	A	C	11: 35,870,796 (GRCm39)		probably null	Het
Yars2	G	T	16: 16,127,242 (GRCm39)	V436L	possibly damaging	Het
Zfp609	G	A	9: 65,604,512 (GRCm39)	Q1324*	probably null	Het
Zfp81	T	C	17: 33,553,774 (GRCm39)	T347A	probably benign	Het
Zgpat	T	C	2: 181,021,366 (GRCm39)	V292A	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
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
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'- CAGAGGAAGCTCTTGTGTCC -3'
(R):5'- GAATGGACTTAGCTAGCTCCC -3'

Sequencing Primer
(F):5'- GAAGCTCTTGTGTCCCGTGC -3'
(R):5'- GGAAAGTCCCTCTCTTTGTACTAGG -3'

Posted On

2022-08-09