Mutagenetix > Incidental Mutation

Incidental Mutation 'R3905:Abca12'

309125

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71242276-71414910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71279457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1796 (F1796L)

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

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

AlphaFold

E9Q876

Predicted Effect

probably benign
Transcript: ENSMUST00000087268
AA Change: F1796L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: F1796L

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,296,283	M821L	probably benign	Het
Adamts3	C	A	5: 89,861,355	G150C	probably damaging	Het
Ap4b1	A	T	3: 103,818,893	I262F	possibly damaging	Het
Atp1a1	T	A	3: 101,590,612	E286D	probably benign	Het
Bard1	T	C	1: 71,067,180	I429M	possibly damaging	Het
Bcl7c	T	C	7: 127,666,983	R198G	possibly damaging	Het
Cacna1s	T	A	1: 136,084,269	M483K	probably damaging	Het
Ccdc159	T	A	9: 21,934,519		probably null	Het
Cct7	A	T	6: 85,466,708	I353F	possibly damaging	Het
Cfap57	A	G	4: 118,595,839	Y556H	probably damaging	Het
Fat1	G	C	8: 45,023,035	R1706T	probably benign	Het
Fn1	C	T	1: 71,607,913	G1482R	probably damaging	Het
Gcat	T	C	15: 79,043,331	L324P	possibly damaging	Het
Hspa1a	C	T	17: 34,971,727	V67M	probably damaging	Het
Il22	C	T	10: 118,205,624	R81*	probably null	Het
Impa1	T	C	3: 10,316,034	T263A	probably benign	Het
Kif13a	T	C	13: 46,802,690	Y609C	probably damaging	Het
Kmt2e	A	G	5: 23,501,626	N1396D	probably benign	Het
Lrfn1	G	A	7: 28,466,869	G563R	possibly damaging	Het
Mark1	A	C	1: 184,908,435		probably null	Het
Mum1	T	C	10: 80,238,316	V401A	probably damaging	Het
Mxd1	G	T	6: 86,650,960	Q199K	probably benign	Het
Myo3a	T	A	2: 22,558,215	Y1N	probably damaging	Het
Nek3	T	C	8: 22,133,091	E309G	probably benign	Het
Olfr63	T	C	17: 33,268,775	F17S	probably damaging	Het
Otoa	A	T	7: 121,125,565	Q489L	probably damaging	Het
Oxsr1	T	C	9: 119,247,112	E376G	probably benign	Het
Piezo1	C	T	8: 122,482,143	E2494K	probably damaging	Het
Pkd1l3	A	G	8: 109,646,879	H1349R	probably benign	Het
Psmd2	A	G	16: 20,655,642	D316G	probably benign	Het
Robo4	T	A	9: 37,403,505	C218*	probably null	Het
Rxfp2	A	T	5: 150,055,985		probably null	Het
Slc10a1	A	G	12: 80,967,667	I93T	probably damaging	Het
Tarbp1	C	T	8: 126,428,152	R1411Q	probably damaging	Het
Tbl3	C	T	17: 24,702,032	D563N	probably damaging	Het
Tec	A	G	5: 72,760,362	S505P	probably damaging	Het
Toporsl	A	T	4: 52,611,750	R548*	probably null	Het
Vmn1r39	G	A	6: 66,804,495	Q243*	probably null	Het
Vmn2r9	C	A	5: 108,847,919	A288S	probably benign	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
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
R7808:Abca12	UTSW	1	71274634	splice site	probably null
R7816:Abca12	UTSW	1	71292429	missense	probably benign	0.01
R7821:Abca12	UTSW	1	71259791	missense	probably benign	0.12
R7827:Abca12	UTSW	1	71414678	start gained	probably benign
R7829:Abca12	UTSW	1	71292421	missense	probably benign	0.37
R7863:Abca12	UTSW	1	71293497	missense	probably damaging	0.96
R8053:Abca12	UTSW	1	71349169	nonsense	probably null
R8093:Abca12	UTSW	1	71280393	missense	probably benign	0.00
R8120:Abca12	UTSW	1	71259381	missense	possibly damaging	0.92
R8136:Abca12	UTSW	1	71248397	missense	probably benign	0.15
R8155:Abca12	UTSW	1	71291338	missense	probably damaging	1.00
R8189:Abca12	UTSW	1	71285726	missense	probably damaging	1.00
R8233:Abca12	UTSW	1	71351757	missense	probably benign	0.00
R8249:Abca12	UTSW	1	71321812	missense	probably benign	0.00
R8255:Abca12	UTSW	1	71319899	missense	probably benign	0.13
R8300:Abca12	UTSW	1	71313964	missense	possibly damaging	0.77
R8339:Abca12	UTSW	1	71285672	missense	probably damaging	1.00
R8490:Abca12	UTSW	1	71284097	missense	probably damaging	1.00
R8494:Abca12	UTSW	1	71288662	missense	probably benign	0.02
R8527:Abca12	UTSW	1	71309888	critical splice acceptor site	probably null
R8542:Abca12	UTSW	1	71309888	critical splice acceptor site	probably null
R8692:Abca12	UTSW	1	71288715	missense	probably damaging	0.96
R8723:Abca12	UTSW	1	71321738	missense	probably benign	0.04
R8796:Abca12	UTSW	1	71258089	critical splice donor site	probably benign
R8911:Abca12	UTSW	1	71341531	missense	probably benign	0.07
R8913:Abca12	UTSW	1	71264813	missense	probably damaging	1.00
R8957:Abca12	UTSW	1	71321625	missense	possibly damaging	0.90
R9000:Abca12	UTSW	1	71314036	missense	probably damaging	1.00
R9137:Abca12	UTSW	1	71259366	missense	possibly damaging	0.80
R9228:Abca12	UTSW	1	71293440	missense	probably damaging	1.00
R9237:Abca12	UTSW	1	71279398	missense	probably damaging	0.97
R9299:Abca12	UTSW	1	71319883	missense	possibly damaging	0.48
R9419:Abca12	UTSW	1	71303490	missense	possibly damaging	0.81
R9492:Abca12	UTSW	1	71258221	missense	possibly damaging	0.81
R9538:Abca12	UTSW	1	71341513	missense	probably benign	0.04
R9585:Abca12	UTSW	1	71303586	missense	probably damaging	1.00
R9658:Abca12	UTSW	1	71286475	missense	probably damaging	0.97
R9763:Abca12	UTSW	1	71263558	missense	possibly damaging	0.84
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	probably damaging	1.00
Z1177:Abca12	UTSW	1	71276082	missense	possibly damaging	0.94
Z1177:Abca12	UTSW	1	71282811	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71292531	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCGTTATTATGGCATAGTACTGTC -3'
(R):5'- TGTAGGCCTGGAGTTGACATC -3'

Sequencing Primer
(F):5'- TTATGGCATAGTACTGTCAAAGGAAG -3'
(R):5'- CCTGGAGTTGACATCCCAAG -3'

Posted On

2015-04-17