Mutagenetix > Incidental Mutation

Incidental Mutation 'R9453:Abca6'

714410

Institutional Source

Beutler Lab

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A member 6

Synonyms

6330565N06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110067646-110142602 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 110138090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044003] [ENSMUST00000044003]

AlphaFold

Q8K441

Predicted Effect

probably null
Transcript: ENSMUST00000044003

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	416	1.4e-42	PFAM
low complexity region	484	495	N/A	INTRINSIC
AAA	506	691	1.13e-6	SMART
transmembrane domain	854	876	N/A	INTRINSIC
transmembrane domain	971	990	N/A	INTRINSIC
transmembrane domain	1005	1027	N/A	INTRINSIC
Blast:AAA	1041	1176	4e-21	BLAST
transmembrane domain	1191	1213	N/A	INTRINSIC
low complexity region	1243	1254	N/A	INTRINSIC
AAA	1312	1505	2.43e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000044003

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	416	1.4e-42	PFAM
low complexity region	484	495	N/A	INTRINSIC
AAA	506	691	1.13e-6	SMART
transmembrane domain	854	876	N/A	INTRINSIC
transmembrane domain	971	990	N/A	INTRINSIC
transmembrane domain	1005	1027	N/A	INTRINSIC
Blast:AAA	1041	1176	4e-21	BLAST
transmembrane domain	1191	1213	N/A	INTRINSIC
low complexity region	1243	1254	N/A	INTRINSIC
AAA	1312	1505	2.43e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated 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, and White). This encoded 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 gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,054 (GRCm39)	A179T	probably benign	Het
Agps	A	C	2: 75,662,585 (GRCm39)	D10A	probably damaging	Het
Atad2b	T	A	12: 5,081,578 (GRCm39)	D1162E	probably benign	Het
Atp13a4	T	C	16: 29,239,659 (GRCm39)	K851R	unknown	Het
Cdh15	A	G	8: 123,586,029 (GRCm39)	D136G	probably damaging	Het
Cdk5rap1	A	T	2: 154,190,585 (GRCm39)	Y459N	probably damaging	Het
Cep192	A	T	18: 67,989,354 (GRCm39)	K1834*	probably null	Het
Cfap221	C	T	1: 119,853,361 (GRCm39)	V778I	probably benign	Het
Chpf	G	A	1: 75,452,854 (GRCm39)	T362I	probably benign	Het
Cyp4x1	T	C	4: 114,991,069 (GRCm39)	R36G	probably damaging	Het
D16Ertd472e	T	A	16: 78,342,052 (GRCm39)	Q276L	probably damaging	Het
Dapk3	T	C	10: 81,025,825 (GRCm39)	Y39H	probably damaging	Het
Eefsec	T	C	6: 88,353,337 (GRCm39)	T111A	probably damaging	Het
Ehbp1l1	G	A	19: 5,758,371 (GRCm39)	R1714C	unknown	Het
Flcn	A	G	11: 59,694,609 (GRCm39)	V121A	probably damaging	Het
Gaa	G	T	11: 119,165,958 (GRCm39)	D423Y	probably damaging	Het
Gaa	A	C	11: 119,165,959 (GRCm39)	D423A	probably benign	Het
Garnl3	A	G	2: 32,893,881 (GRCm39)	I694T	probably damaging	Het
Gm5114	T	A	7: 39,058,242 (GRCm39)	Q459L	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hmmr	A	G	11: 40,612,655 (GRCm39)		probably null	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lmnb1	G	A	18: 56,873,114 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,288,832 (GRCm39)	Y3678C	probably damaging	Het
Map7	T	C	10: 20,153,981 (GRCm39)	V699A	unknown	Het
Mme	G	T	3: 63,272,306 (GRCm39)	G635V	possibly damaging	Het
Mroh8	A	T	2: 157,071,948 (GRCm39)	I519N	possibly damaging	Het
Mrps11	T	C	7: 78,442,390 (GRCm39)	S157P	probably damaging	Het
Muc16	T	C	9: 18,572,061 (GRCm39)	T153A	unknown	Het
Nlrp1b	A	G	11: 71,072,913 (GRCm39)	V310A	probably damaging	Het
Oas1f	T	C	5: 120,993,592 (GRCm39)	V268A	probably damaging	Het
Or56a3b	T	A	7: 104,770,817 (GRCm39)	I51N		Het
Or6y1	A	T	1: 174,276,233 (GRCm39)	T15S	probably benign	Het
Padi4	A	G	4: 140,479,950 (GRCm39)	L401P	probably benign	Het
Pdzd7	A	G	19: 45,016,056 (GRCm39)	*1022Q	probably null	Het
Plcl2	C	A	17: 50,915,391 (GRCm39)	T800K	probably damaging	Het
Polr1has	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 37,275,939 (GRCm39)		probably benign	Het
Ppp1r37	A	T	7: 19,295,796 (GRCm39)	F54I	probably damaging	Het
Prl7c1	T	A	13: 27,957,870 (GRCm39)	Y190F	probably benign	Het
Prpf8	A	G	11: 75,397,212 (GRCm39)	E2015G	possibly damaging	Het
Rpap3	A	G	15: 97,579,641 (GRCm39)	V457A		Het
Samd13	A	T	3: 146,368,510 (GRCm39)	D27E		Het
Sephs1	A	T	2: 4,889,174 (GRCm39)		probably benign	Het
Slc22a20	T	G	19: 6,023,024 (GRCm39)	Q373P	probably damaging	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Src	A	T	2: 157,307,852 (GRCm39)	T254S	probably damaging	Het
St6galnac2	A	T	11: 116,569,344 (GRCm39)	M301K	possibly damaging	Het
Tnfsf13	A	T	11: 69,576,010 (GRCm39)	W26R	probably damaging	Het
Trbv28	T	A	6: 41,248,687 (GRCm39)	D72E	probably benign	Het
Trim75	T	A	8: 65,436,561 (GRCm39)		probably benign	Het
Ttc39d	T	C	17: 80,524,754 (GRCm39)	F471S	probably damaging	Het
Vav1	C	T	17: 57,613,191 (GRCm39)	P621L	probably benign	Het
Vezt	A	T	10: 93,832,856 (GRCm39)	L185*	probably null	Het
Vmn2r42	T	C	7: 8,187,295 (GRCm39)	I826V	probably benign	Het
Vmn2r67	G	A	7: 84,800,697 (GRCm39)	T413M	probably benign	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr83os	G	C	8: 85,808,638 (GRCm39)	W106C	probably damaging	Het
Wdr95	T	C	5: 149,475,917 (GRCm39)	S72P	probably damaging	Het
Zfp423	T	A	8: 88,508,251 (GRCm39)	T698S	probably damaging	Het
Zfp521	G	A	18: 13,977,293 (GRCm39)	T1040I	probably damaging	Het
Zfp563	T	A	17: 33,308,565 (GRCm39)	V9E		Het
Zmym2	T	A	14: 57,180,770 (GRCm39)	V894E	probably damaging	Het

Other mutations in Abca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca6	APN	11	110,075,535 (GRCm39)	missense	probably damaging	1.00
IGL00569:Abca6	APN	11	110,077,875 (GRCm39)	missense	possibly damaging	0.88
IGL00737:Abca6	APN	11	110,087,823 (GRCm39)	splice site	probably benign
IGL01024:Abca6	APN	11	110,087,968 (GRCm39)	missense	probably benign
IGL01087:Abca6	APN	11	110,082,476 (GRCm39)	missense	probably benign	0.00
IGL01511:Abca6	APN	11	110,135,136 (GRCm39)	missense	probably benign	0.00
IGL01516:Abca6	APN	11	110,109,043 (GRCm39)	missense	possibly damaging	0.70
IGL01621:Abca6	APN	11	110,075,534 (GRCm39)	missense	probably damaging	1.00
IGL01749:Abca6	APN	11	110,135,050 (GRCm39)	missense	probably damaging	1.00
IGL01934:Abca6	APN	11	110,079,481 (GRCm39)	missense	probably benign	0.00
IGL02010:Abca6	APN	11	110,110,442 (GRCm39)	missense	probably benign	0.12
IGL02121:Abca6	APN	11	110,073,750 (GRCm39)	missense	probably benign	0.38
IGL02423:Abca6	APN	11	110,109,832 (GRCm39)	splice site	probably benign
IGL02428:Abca6	APN	11	110,069,618 (GRCm39)	missense	possibly damaging	0.81
IGL02491:Abca6	APN	11	110,067,794 (GRCm39)	utr 3 prime	probably benign
IGL02541:Abca6	APN	11	110,103,093 (GRCm39)	missense	probably damaging	1.00
IGL02792:Abca6	APN	11	110,079,507 (GRCm39)	missense	probably damaging	0.99
IGL02836:Abca6	APN	11	110,139,374 (GRCm39)	missense	probably damaging	1.00
IGL02965:Abca6	APN	11	110,071,439 (GRCm39)	missense	probably benign
IGL03094:Abca6	APN	11	110,074,938 (GRCm39)	missense	probably benign	0.03
IGL03109:Abca6	APN	11	110,071,173 (GRCm39)	missense	probably damaging	0.96
R0068:Abca6	UTSW	11	110,073,708 (GRCm39)	missense	probably damaging	1.00
R0142:Abca6	UTSW	11	110,079,467 (GRCm39)	missense	probably damaging	1.00
R0165:Abca6	UTSW	11	110,110,430 (GRCm39)	missense	possibly damaging	0.90
R0254:Abca6	UTSW	11	110,127,615 (GRCm39)	missense	probably benign	0.16
R0598:Abca6	UTSW	11	110,087,980 (GRCm39)	missense	probably damaging	1.00
R0992:Abca6	UTSW	11	110,102,510 (GRCm39)	missense	probably damaging	1.00
R1386:Abca6	UTSW	11	110,135,081 (GRCm39)	missense	probably benign	0.02
R1642:Abca6	UTSW	11	110,109,107 (GRCm39)	missense	possibly damaging	0.73
R1673:Abca6	UTSW	11	110,103,165 (GRCm39)	missense	probably benign	0.01
R1792:Abca6	UTSW	11	110,074,870 (GRCm39)	missense	probably benign	0.00
R1813:Abca6	UTSW	11	110,124,671 (GRCm39)	splice site	probably benign
R1817:Abca6	UTSW	11	110,110,144 (GRCm39)	missense	probably benign	0.00
R1842:Abca6	UTSW	11	110,087,865 (GRCm39)	missense	probably benign	0.00
R1898:Abca6	UTSW	11	110,099,625 (GRCm39)	missense	probably damaging	0.99
R1914:Abca6	UTSW	11	110,103,036 (GRCm39)	missense	probably benign	0.06
R1915:Abca6	UTSW	11	110,103,036 (GRCm39)	missense	probably benign	0.06
R1934:Abca6	UTSW	11	110,100,909 (GRCm39)	critical splice donor site	probably null
R1964:Abca6	UTSW	11	110,075,502 (GRCm39)	missense	probably damaging	0.98
R1967:Abca6	UTSW	11	110,077,974 (GRCm39)	missense	probably benign	0.09
R2127:Abca6	UTSW	11	110,110,475 (GRCm39)	missense	probably benign	0.00
R2128:Abca6	UTSW	11	110,110,475 (GRCm39)	missense	probably benign	0.00
R2164:Abca6	UTSW	11	110,101,019 (GRCm39)	frame shift	probably null
R2895:Abca6	UTSW	11	110,093,252 (GRCm39)	missense	probably benign	0.00
R3110:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R3111:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R3112:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R4094:Abca6	UTSW	11	110,071,192 (GRCm39)	missense	probably damaging	1.00
R4432:Abca6	UTSW	11	110,132,414 (GRCm39)	missense	probably benign	0.11
R4474:Abca6	UTSW	11	110,124,598 (GRCm39)	missense	possibly damaging	0.46
R4572:Abca6	UTSW	11	110,107,374 (GRCm39)	missense	probably benign	0.31
R4629:Abca6	UTSW	11	110,121,375 (GRCm39)	critical splice acceptor site	probably null
R4793:Abca6	UTSW	11	110,082,544 (GRCm39)	missense	probably benign
R4852:Abca6	UTSW	11	110,135,029 (GRCm39)	missense	probably benign	0.09
R4867:Abca6	UTSW	11	110,093,205 (GRCm39)	missense	probably benign	0.01
R4879:Abca6	UTSW	11	110,110,526 (GRCm39)	missense	probably damaging	0.98
R4918:Abca6	UTSW	11	110,071,377 (GRCm39)	missense	probably damaging	1.00
R5060:Abca6	UTSW	11	110,110,430 (GRCm39)	missense	possibly damaging	0.90
R5062:Abca6	UTSW	11	110,067,892 (GRCm39)	missense	probably benign	0.12
R5083:Abca6	UTSW	11	110,109,793 (GRCm39)	missense	probably damaging	1.00
R5173:Abca6	UTSW	11	110,082,546 (GRCm39)	missense	probably benign
R5393:Abca6	UTSW	11	110,135,121 (GRCm39)	missense	probably benign	0.00
R5484:Abca6	UTSW	11	110,074,899 (GRCm39)	missense	probably damaging	1.00
R5498:Abca6	UTSW	11	110,099,670 (GRCm39)	missense	possibly damaging	0.95
R5503:Abca6	UTSW	11	110,109,083 (GRCm39)	missense	probably damaging	1.00
R5645:Abca6	UTSW	11	110,141,234 (GRCm39)	missense	probably damaging	0.99
R5680:Abca6	UTSW	11	110,127,471 (GRCm39)	missense	possibly damaging	0.88
R5761:Abca6	UTSW	11	110,100,927 (GRCm39)	missense	probably damaging	1.00
R5779:Abca6	UTSW	11	110,075,496 (GRCm39)	missense	probably benign	0.37
R5818:Abca6	UTSW	11	110,110,469 (GRCm39)	missense	probably damaging	1.00
R6282:Abca6	UTSW	11	110,099,650 (GRCm39)	missense	probably damaging	0.98
R6455:Abca6	UTSW	11	110,132,407 (GRCm39)	missense	probably damaging	1.00
R6826:Abca6	UTSW	11	110,107,431 (GRCm39)	missense	probably benign	0.15
R6857:Abca6	UTSW	11	110,110,514 (GRCm39)	missense	possibly damaging	0.63
R6914:Abca6	UTSW	11	110,081,064 (GRCm39)	missense	probably benign
R6931:Abca6	UTSW	11	110,135,154 (GRCm39)	missense	probably benign	0.27
R7222:Abca6	UTSW	11	110,082,519 (GRCm39)	missense	probably benign	0.29
R7242:Abca6	UTSW	11	110,132,479 (GRCm39)	missense	possibly damaging	0.47
R7297:Abca6	UTSW	11	110,073,852 (GRCm39)	critical splice donor site	probably null
R7387:Abca6	UTSW	11	110,093,246 (GRCm39)	missense	probably benign
R7420:Abca6	UTSW	11	110,141,303 (GRCm39)	missense	probably benign	0.24
R7494:Abca6	UTSW	11	110,099,571 (GRCm39)	missense	possibly damaging	0.93
R7603:Abca6	UTSW	11	110,071,084 (GRCm39)	missense	possibly damaging	0.69
R7637:Abca6	UTSW	11	110,109,778 (GRCm39)	missense	probably benign	0.00
R7674:Abca6	UTSW	11	110,110,123 (GRCm39)	missense	probably damaging	1.00
R7753:Abca6	UTSW	11	110,074,933 (GRCm39)	missense	probably damaging	1.00
R7800:Abca6	UTSW	11	110,078,698 (GRCm39)	missense	probably benign	0.00
R7842:Abca6	UTSW	11	110,087,523 (GRCm39)	missense	possibly damaging	0.76
R7855:Abca6	UTSW	11	110,082,454 (GRCm39)	missense	probably benign	0.01
R8119:Abca6	UTSW	11	110,087,930 (GRCm39)	missense	probably benign	0.00
R8139:Abca6	UTSW	11	110,074,959 (GRCm39)	missense	probably damaging	1.00
R8176:Abca6	UTSW	11	110,135,020 (GRCm39)	missense	probably benign	0.01
R8179:Abca6	UTSW	11	110,136,100 (GRCm39)	missense	probably damaging	1.00
R8197:Abca6	UTSW	11	110,102,641 (GRCm39)	missense	probably damaging	0.99
R8241:Abca6	UTSW	11	110,079,456 (GRCm39)	missense	probably null	1.00
R8404:Abca6	UTSW	11	110,110,145 (GRCm39)	missense	probably damaging	0.99
R8429:Abca6	UTSW	11	110,093,208 (GRCm39)	missense	probably benign
R8502:Abca6	UTSW	11	110,110,145 (GRCm39)	missense	probably damaging	0.99
R8816:Abca6	UTSW	11	110,127,513 (GRCm39)	missense	probably benign	0.04
R8964:Abca6	UTSW	11	110,139,363 (GRCm39)	missense	probably benign	0.00
R9153:Abca6	UTSW	11	110,107,481 (GRCm39)	missense	possibly damaging	0.61
R9233:Abca6	UTSW	11	110,082,496 (GRCm39)	missense	probably benign	0.31
R9407:Abca6	UTSW	11	110,093,210 (GRCm39)	nonsense	probably null
R9412:Abca6	UTSW	11	110,103,059 (GRCm39)	missense	probably damaging	0.99
R9533:Abca6	UTSW	11	110,102,582 (GRCm39)	missense	probably benign	0.16
R9546:Abca6	UTSW	11	110,135,042 (GRCm39)	nonsense	probably null
R9650:Abca6	UTSW	11	110,071,446 (GRCm39)	missense	probably benign	0.32
R9702:Abca6	UTSW	11	110,107,378 (GRCm39)	missense	probably damaging	1.00
R9709:Abca6	UTSW	11	110,102,589 (GRCm39)	missense	probably benign	0.01
X0024:Abca6	UTSW	11	110,135,081 (GRCm39)	missense	probably benign	0.02
X0064:Abca6	UTSW	11	110,087,968 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGAGATCCAACCATCATTGCC -3'
(R):5'- GTGGGATGCTACCTAATCCAGC -3'

Sequencing Primer
(F):5'- GCCTTAATCCTGTGAGCTCAAAAG -3'
(R):5'- AATCCAGCACACCTGTTTTCATC -3'

Posted On

2022-06-15