Mutagenetix > Incidental Mutations

Incidental Mutation 'R7827:Abca12'

602221

Institutional Source

Beutler Lab

Gene Symbol

Abca12

Ensembl Gene

ENSMUSG00000050296

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 12

Synonyms

4833417A11Rik, 4832428G11Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7827 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71242276-71414910 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 71414678 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087268]

Predicted Effect

probably benign
Transcript: ENSMUST00000087268

SMART Domains

Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296

Domain	Start	End	E-Value	Type
transmembrane domain	24	43	N/A	INTRINSIC
low complexity region	246	259	N/A	INTRINSIC
Pfam:ABC2_membrane_3	885	1267	2.9e-24	PFAM
AAA	1370	1554	4.2e-10	SMART
low complexity region	1717	1735	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1744	2206	9.6e-35	PFAM
AAA	2282	2467	4.61e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,837,747	S878P	probably damaging	Het
Adamts20	T	C	15: 94,325,933	R1305G	probably damaging	Het
Adcy2	A	T	13: 68,689,281	C650S	probably damaging	Het
Ahnak	A	T	19: 9,005,344	K1331*	probably null	Het
Alpk1	A	T	3: 127,680,051	S768T	probably benign	Het
Ap4b1	T	G	3: 103,815,082	L124R	probably damaging	Het
Arrdc2	A	T	8: 70,839,394	F3Y	probably damaging	Het
Atp9a	A	G	2: 168,705,194	V155A	probably benign	Het
Bptf	A	G	11: 107,047,187	S87P	probably benign	Het
Carmil1	A	T	13: 24,036,438	M697K	probably benign	Het
Ccdc42	G	A	11: 68,594,196	V32M	probably benign	Het
Ces1d	A	G	8: 93,197,666		probably null	Het
Col4a3bp	A	G	13: 96,617,055	H391R	probably damaging	Het
Dcpp2	T	G	17: 23,900,592	Y127D	probably damaging	Het
Def8	C	A	8: 123,447,321	T7K	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
En2	G	A	5: 28,166,596	G24S	probably benign	Het
Evi2a	T	C	11: 79,527,862		probably benign	Het
Fam117b	A	T	1: 59,913,678	H172L	possibly damaging	Het
Fam169b	A	G	7: 68,304,590	I67M	probably benign	Het
Fbxo40	T	A	16: 36,969,499	E416D	probably damaging	Het
Gja8	T	A	3: 96,920,319	N9I	possibly damaging	Het
Gm5538	A	G	3: 59,743,691	N78S	probably damaging	Het
Gsg1l2	T	A	11: 67,785,271	C154S	probably benign	Het
Hdhd3	C	A	4: 62,499,995		probably benign	Het
Hunk	C	T	16: 90,481,326	P341L	possibly damaging	Het
Ighv8-5	T	C	12: 115,067,638	T94A	possibly damaging	Het
Ints3	T	C	3: 90,424,012	N75D	probably benign	Het
Krt39	T	C	11: 99,519,075	E212G	probably damaging	Het
Ldlrad4	A	G	18: 68,254,424	H269R	probably damaging	Het
Lrrc2	T	A	9: 110,960,981	V102E	possibly damaging	Het
Ltbp2	T	A	12: 84,789,881	I1292L	probably benign	Het
Mad2l1bp	A	T	17: 46,148,067	V179E	possibly damaging	Het
Map3k1	A	G	13: 111,756,129	V864A	probably benign	Het
Mapk8ip2	T	G	15: 89,458,119	V511G	probably damaging	Het
Mknk2	A	C	10: 80,667,187	S434A	probably benign	Het
Mllt11	A	G	3: 95,220,237	F74S	probably damaging	Het
Muc16	G	T	9: 18,595,223	T6412K	possibly damaging	Het
Nek5	C	A	8: 22,083,387	A518S	possibly damaging	Het
Npy1r	T	C	8: 66,704,212	F95L	possibly damaging	Het
Nup98	G	A	7: 102,124,362	T1586I	probably benign	Het
Olfr128	T	A	17: 37,923,677	L37*	probably null	Het
Olfr1477	T	G	19: 13,503,223	N293K	probably damaging	Het
Olfr303	T	A	7: 86,394,557	K314*	probably null	Het
Olfr702	A	G	7: 106,823,725	M267T	probably benign	Het
Olig3	A	T	10: 19,356,770	M48L	probably benign	Het
Pcdhb16	A	G	18: 37,478,851	D288G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Phip	T	C	9: 82,908,833	I687V	probably benign	Het
Piezo1	G	A	8: 122,482,920	T2348M	probably damaging	Het
Plod3	A	G	5: 136,989,981	T291A	probably benign	Het
Pmpca	G	A	2: 26,390,132	V89I	possibly damaging	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Pou6f2	C	A	13: 18,378,507	A81S		Het
Ppl	T	A	16: 5,087,964	E1489V	probably damaging	Het
Ptpdc1	A	G	13: 48,579,788	F792S	probably damaging	Het
Pus1	A	G	5: 110,779,716	Y58H	probably damaging	Het
Rex2	C	A	4: 147,058,090	T345N	possibly damaging	Het
Rnf144a	T	C	12: 26,339,440	M1V	probably null	Het
Siglec15	A	T	18: 78,057,230	C13*	probably null	Het
Skint10	G	A	4: 112,774,806	Q6*	probably null	Het
Slc5a1	T	C	5: 33,146,713	W291R	probably damaging	Het
Snx27	A	G	3: 94,519,059	F378L	probably benign	Het
Strip2	A	T	6: 29,923,929	T81S	probably benign	Het
Tas2r143	A	G	6: 42,400,722	N162S	probably damaging	Het
Tatdn1	T	C	15: 58,904,758	D256G	probably benign	Het
Tbc1d5	A	G	17: 50,782,263	S630P	probably damaging	Het
Tlr11	A	G	14: 50,361,154	D199G	probably benign	Het
Tmed8	C	A	12: 87,200,217		probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Ttll3	TAA	TAAAGCAA	6: 113,399,162		probably null	Het
U2af2	T	C	7: 5,074,662		probably null	Het
Ywhag	C	T	5: 135,911,540	E67K	probably damaging	Het
Zfp105	A	G	9: 122,930,743	H493R	probably damaging	Het
Zfp426	A	T	9: 20,470,150	C514S	probably damaging	Het
Zfp536	T	A	7: 37,569,688	D101V	probably damaging	Het

Other mutations in Abca12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abca12	APN	1	71303541	missense	possibly damaging	0.64
IGL00556:Abca12	APN	1	71353757	missense	probably benign	0.00
IGL00813:Abca12	APN	1	71353762	critical splice acceptor site	probably null
IGL00835:Abca12	APN	1	71302733	missense	probably damaging	1.00
IGL00921:Abca12	APN	1	71285729	missense	probably damaging	1.00
IGL01011:Abca12	APN	1	71263632	missense	probably benign	0.02
IGL01066:Abca12	APN	1	71353730	missense	possibly damaging	0.95
IGL01082:Abca12	APN	1	71314114	missense	probably damaging	1.00
IGL01310:Abca12	APN	1	71284156	missense	probably benign	0.00
IGL01360:Abca12	APN	1	71286489	missense	possibly damaging	0.95
IGL01585:Abca12	APN	1	71319886	missense	probably benign	0.00
IGL01608:Abca12	APN	1	71259442	missense	probably damaging	1.00
IGL01687:Abca12	APN	1	71267610	splice site	probably benign
IGL01700:Abca12	APN	1	71280390	missense	probably benign
IGL01723:Abca12	APN	1	71314168	missense	probably benign	0.01
IGL01804:Abca12	APN	1	71276183	missense	probably benign	0.01
IGL01982:Abca12	APN	1	71346698	missense	probably benign	0.34
IGL02136:Abca12	APN	1	71247142	missense	probably damaging	1.00
IGL02172:Abca12	APN	1	71302658	missense	probably benign	0.09
IGL02222:Abca12	APN	1	71282886	missense	probably benign	0.40
IGL02266:Abca12	APN	1	71268201	nonsense	probably null
IGL02449:Abca12	APN	1	71401749	splice site	probably null
IGL02471:Abca12	APN	1	71258198	missense	probably benign	0.00
IGL02496:Abca12	APN	1	71288553	missense	possibly damaging	0.55
IGL02552:Abca12	APN	1	71294747	missense	probably damaging	0.96
IGL02795:Abca12	APN	1	71288748	missense	probably damaging	1.00
IGL03000:Abca12	APN	1	71321800	missense	probably benign	0.01
IGL03031:Abca12	APN	1	71314024	missense	probably benign	0.00
IGL03131:Abca12	APN	1	71346702	missense	probably benign
IGL03260:Abca12	APN	1	71284099	missense	probably damaging	1.00
IGL03324:Abca12	APN	1	71314008	missense	probably benign
IGL03408:Abca12	APN	1	71264795	missense	probably damaging	1.00
R0016:Abca12	UTSW	1	71294800	missense	probably benign	0.35
R0016:Abca12	UTSW	1	71294800	missense	probably benign	0.35
R0121:Abca12	UTSW	1	71259786	splice site	probably null
R0172:Abca12	UTSW	1	71279402	missense	probably damaging	0.99
R0196:Abca12	UTSW	1	71259813	missense	possibly damaging	0.81
R0400:Abca12	UTSW	1	71259776	splice site	probably benign
R0466:Abca12	UTSW	1	71302663	missense	probably damaging	1.00
R0616:Abca12	UTSW	1	71302671	missense	probably damaging	1.00
R0668:Abca12	UTSW	1	71263614	missense	probably damaging	1.00
R0928:Abca12	UTSW	1	71349174	missense	probably benign	0.06
R1036:Abca12	UTSW	1	71263410	critical splice donor site	probably null
R1086:Abca12	UTSW	1	71295061	splice site	probably benign
R1300:Abca12	UTSW	1	71244808	missense	probably damaging	1.00
R1337:Abca12	UTSW	1	71294819	missense	probably benign	0.03
R1356:Abca12	UTSW	1	71302953	splice site	probably benign
R1372:Abca12	UTSW	1	71294857	missense	probably damaging	1.00
R1434:Abca12	UTSW	1	71309800	missense	probably benign	0.00
R1580:Abca12	UTSW	1	71265965	missense	possibly damaging	0.65
R1675:Abca12	UTSW	1	71263411	critical splice donor site	probably null
R1773:Abca12	UTSW	1	71288596	missense	probably damaging	1.00
R1829:Abca12	UTSW	1	71295029	missense	probably benign	0.26
R1922:Abca12	UTSW	1	71319924	missense	probably benign	0.10
R1927:Abca12	UTSW	1	71244840	missense	probably damaging	1.00
R2115:Abca12	UTSW	1	71244771	missense	probably benign	0.01
R2146:Abca12	UTSW	1	71263488	missense	probably benign	0.02
R2148:Abca12	UTSW	1	71263488	missense	probably benign	0.02
R2149:Abca12	UTSW	1	71263488	missense	probably benign	0.02
R2150:Abca12	UTSW	1	71263488	missense	probably benign	0.02
R2299:Abca12	UTSW	1	71258222	missense	probably damaging	1.00
R2392:Abca12	UTSW	1	71258105	missense	probably damaging	1.00
R2571:Abca12	UTSW	1	71249885	missense	probably benign	0.00
R3077:Abca12	UTSW	1	71267605	missense	probably benign	0.02
R3078:Abca12	UTSW	1	71267605	missense	probably benign	0.02
R3705:Abca12	UTSW	1	71285705	missense	probably damaging	1.00
R3800:Abca12	UTSW	1	71265887	missense	probably damaging	1.00
R3905:Abca12	UTSW	1	71268230	missense	possibly damaging	0.79
R3905:Abca12	UTSW	1	71279457	missense	probably benign	0.02
R3962:Abca12	UTSW	1	71274515	splice site	probably null
R4082:Abca12	UTSW	1	71267463	missense	possibly damaging	0.64
R4131:Abca12	UTSW	1	71319871	critical splice donor site	probably null
R4214:Abca12	UTSW	1	71288697	missense	probably damaging	0.99
R4403:Abca12	UTSW	1	71267436	missense	probably damaging	1.00
R4524:Abca12	UTSW	1	71302917	missense	probably benign	0.19
R4615:Abca12	UTSW	1	71330334	missense	probably benign
R4617:Abca12	UTSW	1	71330334	missense	probably benign
R4714:Abca12	UTSW	1	71321450	missense	probably benign	0.00
R4809:Abca12	UTSW	1	71278856	missense	probably benign	0.10
R4810:Abca12	UTSW	1	71303612	missense	probably benign	0.00
R4825:Abca12	UTSW	1	71302685	missense	possibly damaging	0.70
R4990:Abca12	UTSW	1	71294939	missense	possibly damaging	0.61
R5013:Abca12	UTSW	1	71264767	missense	probably damaging	0.99
R5026:Abca12	UTSW	1	71317224	missense	probably benign	0.04
R5064:Abca12	UTSW	1	71300960	missense	probably damaging	1.00
R5188:Abca12	UTSW	1	71291492	missense	probably benign	0.23
R5234:Abca12	UTSW	1	71263664	missense	probably damaging	0.99
R5267:Abca12	UTSW	1	71335774	splice site	probably benign
R5302:Abca12	UTSW	1	71283952	missense	possibly damaging	0.91
R5441:Abca12	UTSW	1	71295056	missense	probably damaging	1.00
R5451:Abca12	UTSW	1	71294917	missense	possibly damaging	0.94
R5526:Abca12	UTSW	1	71292446	missense	probably benign	0.29
R5529:Abca12	UTSW	1	71264881	missense	probably damaging	1.00
R5615:Abca12	UTSW	1	71307059	missense	probably damaging	1.00
R5649:Abca12	UTSW	1	71291342	missense	probably damaging	1.00
R5800:Abca12	UTSW	1	71321432	missense	possibly damaging	0.78
R5807:Abca12	UTSW	1	71303492	missense	probably damaging	1.00
R5878:Abca12	UTSW	1	71346633	missense	possibly damaging	0.79
R5987:Abca12	UTSW	1	71258098	missense	probably damaging	1.00
R6280:Abca12	UTSW	1	71272460	missense	probably benign	0.04
R6316:Abca12	UTSW	1	71313959	missense	probably benign	0.01
R6337:Abca12	UTSW	1	71295013	missense	probably damaging	1.00
R6383:Abca12	UTSW	1	71247184	missense	probably benign	0.03
R6564:Abca12	UTSW	1	71309850	missense	possibly damaging	0.57
R6582:Abca12	UTSW	1	71258225	missense	probably benign	0.00
R6756:Abca12	UTSW	1	71259353	splice site	probably null
R6876:Abca12	UTSW	1	71263508	missense	probably damaging	0.98
R6999:Abca12	UTSW	1	71317162	nonsense	probably null
R7145:Abca12	UTSW	1	71307053	missense	possibly damaging	0.92
R7272:Abca12	UTSW	1	71248432	missense	probably damaging	0.99
R7285:Abca12	UTSW	1	71349155	nonsense	probably null
R7421:Abca12	UTSW	1	71247136	nonsense	probably null
R7531:Abca12	UTSW	1	71247173	missense	probably damaging	0.99
R7592:Abca12	UTSW	1	71288677	missense	probably benign	0.01
R7687:Abca12	UTSW	1	71258182	missense	probably benign	0.00
R7690:Abca12	UTSW	1	71314154	missense	probably benign	0.00
R7709:Abca12	UTSW	1	71335728	missense	probably benign	0.00
R7736:Abca12	UTSW	1	71319964	missense	probably benign	0.01
R7754:Abca12	UTSW	1	71302887	missense	probably benign
R7761:Abca12	UTSW	1	71330288	missense	probably damaging	1.00
R7816:Abca12	UTSW	1	71292429	missense	probably benign	0.01
R7821:Abca12	UTSW	1	71259791	missense	probably benign	0.12
R7829:Abca12	UTSW	1	71292421	missense	probably benign	0.37
R7863:Abca12	UTSW	1	71293497	missense	probably damaging	0.96
R7946:Abca12	UTSW	1	71293497	missense	probably damaging	0.96
R8053:Abca12	UTSW	1	71349169	nonsense	probably null
X0013:Abca12	UTSW	1	71248433	missense	probably damaging	0.99
X0018:Abca12	UTSW	1	71314510	missense	probably benign
X0063:Abca12	UTSW	1	71349064	missense	probably benign	0.15
X0065:Abca12	UTSW	1	71341461	critical splice donor site	probably null
Z1176:Abca12	UTSW	1	71284070	missense	not run
Z1177:Abca12	UTSW	1	71276082	missense	not run
Z1177:Abca12	UTSW	1	71282811	missense	not run
Z1177:Abca12	UTSW	1	71292531	missense	not run

Predicted Primers

PCR Primer
(F):5'- AAGAAACTCCTCACCGGCTG -3'
(R):5'- GATACTCATTCTCTCTGGAGTGTGG -3'

Sequencing Primer
(F):5'- GGCTGCCTTTTGACACCTAG -3'
(R):5'- CGCACAAGAGGCAGTATTTTAC -3'

Posted On

2019-12-03