Mutagenetix > Incidental Mutation

Incidental Mutation 'R7420:Abca6'

575623

Institutional Source

Beutler Lab

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A member 6

Synonyms

6330565N06Rik

MMRRC Submission

045498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110067646-110142602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110141303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 6 (V6A)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably benign
Transcript: ENSMUST00000044003
AA Change: V6A

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: V6A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Ano1	G	A	7: 144,209,378 (GRCm39)	T274I	probably benign	Het
Atad5	A	T	11: 79,986,688 (GRCm39)	T592S	probably benign	Het
Bud13	C	T	9: 46,199,113 (GRCm39)	P158L	probably benign	Het
Card19	T	C	13: 49,361,613 (GRCm39)	Y6C	probably damaging	Het
Cd36	C	G	5: 17,993,272 (GRCm39)	V393L	probably benign	Het
Cd79a	A	T	7: 24,596,971 (GRCm39)	R9*	probably null	Het
Cep164	T	C	9: 45,679,840 (GRCm39)	H1131R	probably benign	Het
Chia1	T	A	3: 106,037,980 (GRCm39)	S321T	probably benign	Het
Chrnd	T	A	1: 87,122,543 (GRCm39)	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,592,462 (GRCm39)		probably null	Het
Csn1s2a	T	C	5: 87,927,865 (GRCm39)	S60P	possibly damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Dnah2	C	T	11: 69,369,623 (GRCm39)	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,008,233 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,100,687 (GRCm39)	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,051,567 (GRCm39)	S1443P	possibly damaging	Het
Fam13b	G	T	18: 34,627,664 (GRCm39)	P179Q	probably damaging	Het
Git2	T	C	5: 114,868,431 (GRCm39)	T647A	probably benign	Het
Gli2	T	C	1: 118,763,669 (GRCm39)	N1494S	probably benign	Het
Gm4952	G	A	19: 12,604,265 (GRCm39)	G226R	probably damaging	Het
Gm5460	T	A	14: 33,758,714 (GRCm39)	F156I	probably damaging	Het
Heatr5b	A	T	17: 79,115,909 (GRCm39)	V849D	probably damaging	Het
Hepacam	A	G	9: 37,292,005 (GRCm39)	D111G	probably benign	Het
Hk1	T	C	10: 62,105,761 (GRCm39)	D895G	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kdm5b	T	C	1: 134,532,235 (GRCm39)	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,326,317 (GRCm39)	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt82	T	C	15: 101,454,022 (GRCm39)	T229A	probably damaging	Het
Lrrc37	A	T	11: 103,504,451 (GRCm39)	S2506T	probably benign	Het
Lztr1	T	C	16: 17,341,993 (GRCm39)	L656P	probably damaging	Het
Mfrp	T	C	9: 44,013,773 (GRCm39)		probably benign	Het
Nfe2l1	A	G	11: 96,710,739 (GRCm39)	S497P	probably benign	Het
Or2ag1b	G	A	7: 106,288,227 (GRCm39)	A237V	possibly damaging	Het
Or8b44	G	T	9: 38,410,359 (GRCm39)	L131F	probably benign	Het
Otud4	C	A	8: 80,390,737 (GRCm39)	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,648,256 (GRCm39)	N462D	probably damaging	Het
Plch1	A	G	3: 63,630,278 (GRCm39)	S497P	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,507 (GRCm39)	F121L	probably null	Het
Prxl2c	C	T	13: 64,445,131 (GRCm39)	G164D	possibly damaging	Het
Sdad1	G	A	5: 92,453,596 (GRCm39)	A64V	possibly damaging	Het
Selenop	G	T	15: 3,309,052 (GRCm39)	A335S	probably damaging	Het
Shc3	T	C	13: 51,585,271 (GRCm39)	N448S	probably benign	Het
Shcbp1	G	A	8: 4,798,737 (GRCm39)	T394I	probably benign	Het
Slc39a11	G	T	11: 113,138,648 (GRCm39)	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Speg	T	A	1: 75,407,549 (GRCm39)	S3185R	probably damaging	Het
Tmem100	A	T	11: 89,926,579 (GRCm39)	*135Y	probably null	Het
Ube2o	A	T	11: 116,430,898 (GRCm39)	F1001I	probably damaging	Het
Usp7	T	C	16: 8,527,985 (GRCm39)	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,511,736 (GRCm39)	T648A	probably damaging	Het
Vmn2r67	A	G	7: 84,785,944 (GRCm39)	L687P	possibly damaging	Het
Zcchc14	ACCGCCGCCGCCGCCGCC	ACCGCCGCCGCCGCC	8: 122,378,530 (GRCm39)		probably benign	Het
Zfp800	A	G	6: 28,243,718 (GRCm39)	S416P	probably benign	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
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
R9453:Abca6	UTSW	11	110,138,090 (GRCm39)	critical splice donor site	probably null
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'- TCACAGACCGTTATGAGTTTCTC -3'
(R):5'- CCTCCACATAGCTTAAAGAGAATGC -3'

Sequencing Primer
(F):5'- GACCGTTATGAGTTTCTCAATCAAAC -3'
(R):5'- TAGCTTAAAGAGAATGCATTTGAGG -3'

Posted On

2019-10-07