Mutagenetix > Incidental Mutation

Incidental Mutation 'R1086:Abca12'

85008

Institutional Source

Beutler Lab

Gene Symbol

Abca12

Ensembl Gene

ENSMUSG00000050296

Gene Name

ATP-binding cassette, sub-family A member 12

Synonyms

4833417A11Rik, 4832428G11Rik

MMRRC Submission

039172-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71282249-71454069 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 71334220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

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

AlphaFold

E9Q876

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188752

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.4%

Validation Efficiency

100% (53/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	G	C	4: 110,335,791 (GRCm39)		probably benign	Het
Ano6	T	C	15: 95,847,843 (GRCm39)		probably null	Het
B3gnt8	C	G	7: 25,327,736 (GRCm39)	N55K	probably damaging	Het
Brox	A	G	1: 183,064,052 (GRCm39)	Y252H	probably damaging	Het
Cfap100	T	A	6: 90,380,890 (GRCm39)	K605*	probably null	Het
Chd7	A	G	4: 8,866,458 (GRCm39)	T877A	probably benign	Het
Csmd3	T	A	15: 47,559,151 (GRCm39)	I2371F	probably damaging	Het
Cwc22	T	A	2: 77,754,824 (GRCm39)		probably benign	Het
Cyp2s1	A	T	7: 25,505,422 (GRCm39)	D347E	probably damaging	Het
Dab1	C	A	4: 104,185,769 (GRCm39)		probably benign	Het
Dis3l2	G	A	1: 86,917,871 (GRCm39)	D493N	probably benign	Het
Got1l1	A	G	8: 27,688,007 (GRCm39)	W341R	probably damaging	Het
Gps2	A	G	11: 69,806,050 (GRCm39)		probably benign	Het
Haus1	A	C	18: 77,854,553 (GRCm39)		probably benign	Het
Itgam	T	C	7: 127,679,436 (GRCm39)	S193P	probably damaging	Het
Itpr2	C	A	6: 146,251,543 (GRCm39)	A1034S	probably damaging	Het
Lrp5	T	C	19: 3,699,476 (GRCm39)	R270G	probably benign	Het
Ltbr	G	A	6: 125,289,703 (GRCm39)		probably benign	Het
Mdga2	T	C	12: 66,552,876 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Nwd2	C	T	5: 63,963,917 (GRCm39)	S1167L	probably damaging	Het
Or5h19	T	A	16: 58,856,626 (GRCm39)	H158L	probably damaging	Het
Pfkm	T	C	15: 98,029,546 (GRCm39)	V719A	probably benign	Het
Ppfia3	C	G	7: 45,011,182 (GRCm39)	G16A	probably damaging	Het
Ppp2r3d	G	A	9: 101,031,021 (GRCm39)	T245I	possibly damaging	Het
Ptprd	T	C	4: 76,051,495 (GRCm39)	T256A	probably damaging	Het
Ptprg	C	T	14: 11,952,706 (GRCm38)		probably benign	Het
Rabgap1	T	C	2: 37,359,458 (GRCm39)	V7A	probably damaging	Het
Rnh1	T	G	7: 140,743,282 (GRCm39)	Q231P	probably benign	Het
Rwdd2b	C	T	16: 87,233,446 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,338,883 (GRCm39)		probably benign	Het
Sap130	G	A	18: 31,783,673 (GRCm39)		probably benign	Het
Serpina1d	T	G	12: 103,730,046 (GRCm39)	M379L	probably benign	Het
Skor2	A	C	18: 76,946,994 (GRCm39)	S239R	unknown	Het
Slc16a13	A	G	11: 70,109,850 (GRCm39)	L217P	probably damaging	Het
Slc18b1	T	C	10: 23,679,693 (GRCm39)	M74T	probably benign	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Tacc2	A	T	7: 130,228,227 (GRCm39)	E1637D	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	C	15: 66,555,911 (GRCm39)	I868L	probably benign	Het
Ttll5	G	A	12: 85,937,853 (GRCm39)	V395I	possibly damaging	Het
Uba6	C	A	5: 86,275,578 (GRCm39)	C739F	probably benign	Het
Unc5d	A	C	8: 29,365,658 (GRCm39)	V109G	possibly damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp462	G	T	4: 55,013,000 (GRCm39)	K507N	probably damaging	Het

Other mutations in Abca12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abca12	APN	1	71,342,700 (GRCm39)	missense	possibly damaging	0.64
IGL00556:Abca12	APN	1	71,392,916 (GRCm39)	missense	probably benign	0.00
IGL00813:Abca12	APN	1	71,392,921 (GRCm39)	critical splice acceptor site	probably null
IGL00835:Abca12	APN	1	71,341,892 (GRCm39)	missense	probably damaging	1.00
IGL00921:Abca12	APN	1	71,324,888 (GRCm39)	missense	probably damaging	1.00
IGL01011:Abca12	APN	1	71,302,791 (GRCm39)	missense	probably benign	0.02
IGL01066:Abca12	APN	1	71,392,889 (GRCm39)	missense	possibly damaging	0.95
IGL01082:Abca12	APN	1	71,353,273 (GRCm39)	missense	probably damaging	1.00
IGL01310:Abca12	APN	1	71,323,315 (GRCm39)	missense	probably benign	0.00
IGL01360:Abca12	APN	1	71,325,648 (GRCm39)	missense	possibly damaging	0.95
IGL01585:Abca12	APN	1	71,359,045 (GRCm39)	missense	probably benign	0.00
IGL01608:Abca12	APN	1	71,298,601 (GRCm39)	missense	probably damaging	1.00
IGL01687:Abca12	APN	1	71,306,769 (GRCm39)	splice site	probably benign
IGL01700:Abca12	APN	1	71,319,549 (GRCm39)	missense	probably benign
IGL01723:Abca12	APN	1	71,353,327 (GRCm39)	missense	probably benign	0.01
IGL01804:Abca12	APN	1	71,315,342 (GRCm39)	missense	probably benign	0.01
IGL01982:Abca12	APN	1	71,385,857 (GRCm39)	missense	probably benign	0.34
IGL02136:Abca12	APN	1	71,286,301 (GRCm39)	missense	probably damaging	1.00
IGL02172:Abca12	APN	1	71,341,817 (GRCm39)	missense	probably benign	0.09
IGL02222:Abca12	APN	1	71,322,045 (GRCm39)	missense	probably benign	0.40
IGL02266:Abca12	APN	1	71,307,360 (GRCm39)	nonsense	probably null
IGL02449:Abca12	APN	1	71,440,908 (GRCm39)	splice site	probably null
IGL02471:Abca12	APN	1	71,297,357 (GRCm39)	missense	probably benign	0.00
IGL02496:Abca12	APN	1	71,327,712 (GRCm39)	missense	possibly damaging	0.55
IGL02552:Abca12	APN	1	71,333,906 (GRCm39)	missense	probably damaging	0.96
IGL02795:Abca12	APN	1	71,327,907 (GRCm39)	missense	probably damaging	1.00
IGL03000:Abca12	APN	1	71,360,959 (GRCm39)	missense	probably benign	0.01
IGL03031:Abca12	APN	1	71,353,183 (GRCm39)	missense	probably benign	0.00
IGL03131:Abca12	APN	1	71,385,861 (GRCm39)	missense	probably benign
IGL03260:Abca12	APN	1	71,323,258 (GRCm39)	missense	probably damaging	1.00
IGL03324:Abca12	APN	1	71,353,167 (GRCm39)	missense	probably benign
IGL03408:Abca12	APN	1	71,303,954 (GRCm39)	missense	probably damaging	1.00
R0016:Abca12	UTSW	1	71,333,959 (GRCm39)	missense	probably benign	0.35
R0016:Abca12	UTSW	1	71,333,959 (GRCm39)	missense	probably benign	0.35
R0121:Abca12	UTSW	1	71,298,945 (GRCm39)	splice site	probably null
R0172:Abca12	UTSW	1	71,318,561 (GRCm39)	missense	probably damaging	0.99
R0196:Abca12	UTSW	1	71,298,972 (GRCm39)	missense	possibly damaging	0.81
R0400:Abca12	UTSW	1	71,298,935 (GRCm39)	splice site	probably benign
R0466:Abca12	UTSW	1	71,341,822 (GRCm39)	missense	probably damaging	1.00
R0616:Abca12	UTSW	1	71,341,830 (GRCm39)	missense	probably damaging	1.00
R0668:Abca12	UTSW	1	71,302,773 (GRCm39)	missense	probably damaging	1.00
R0928:Abca12	UTSW	1	71,388,333 (GRCm39)	missense	probably benign	0.06
R1036:Abca12	UTSW	1	71,302,569 (GRCm39)	critical splice donor site	probably null
R1300:Abca12	UTSW	1	71,283,967 (GRCm39)	missense	probably damaging	1.00
R1337:Abca12	UTSW	1	71,333,978 (GRCm39)	missense	probably benign	0.03
R1356:Abca12	UTSW	1	71,342,112 (GRCm39)	splice site	probably benign
R1372:Abca12	UTSW	1	71,334,016 (GRCm39)	missense	probably damaging	1.00
R1434:Abca12	UTSW	1	71,348,959 (GRCm39)	missense	probably benign	0.00
R1580:Abca12	UTSW	1	71,305,124 (GRCm39)	missense	possibly damaging	0.65
R1675:Abca12	UTSW	1	71,302,570 (GRCm39)	critical splice donor site	probably null
R1773:Abca12	UTSW	1	71,327,755 (GRCm39)	missense	probably damaging	1.00
R1829:Abca12	UTSW	1	71,334,188 (GRCm39)	missense	probably benign	0.26
R1922:Abca12	UTSW	1	71,359,083 (GRCm39)	missense	probably benign	0.10
R1927:Abca12	UTSW	1	71,283,999 (GRCm39)	missense	probably damaging	1.00
R2115:Abca12	UTSW	1	71,283,930 (GRCm39)	missense	probably benign	0.01
R2146:Abca12	UTSW	1	71,302,647 (GRCm39)	missense	probably benign	0.02
R2148:Abca12	UTSW	1	71,302,647 (GRCm39)	missense	probably benign	0.02
R2149:Abca12	UTSW	1	71,302,647 (GRCm39)	missense	probably benign	0.02
R2150:Abca12	UTSW	1	71,302,647 (GRCm39)	missense	probably benign	0.02
R2299:Abca12	UTSW	1	71,297,381 (GRCm39)	missense	probably damaging	1.00
R2392:Abca12	UTSW	1	71,297,264 (GRCm39)	missense	probably damaging	1.00
R2571:Abca12	UTSW	1	71,289,044 (GRCm39)	missense	probably benign	0.00
R3077:Abca12	UTSW	1	71,306,764 (GRCm39)	missense	probably benign	0.02
R3078:Abca12	UTSW	1	71,306,764 (GRCm39)	missense	probably benign	0.02
R3705:Abca12	UTSW	1	71,324,864 (GRCm39)	missense	probably damaging	1.00
R3800:Abca12	UTSW	1	71,305,046 (GRCm39)	missense	probably damaging	1.00
R3905:Abca12	UTSW	1	71,318,616 (GRCm39)	missense	probably benign	0.02
R3905:Abca12	UTSW	1	71,307,389 (GRCm39)	missense	possibly damaging	0.79
R3962:Abca12	UTSW	1	71,313,674 (GRCm39)	splice site	probably null
R4082:Abca12	UTSW	1	71,306,622 (GRCm39)	missense	possibly damaging	0.64
R4131:Abca12	UTSW	1	71,359,030 (GRCm39)	critical splice donor site	probably null
R4214:Abca12	UTSW	1	71,327,856 (GRCm39)	missense	probably damaging	0.99
R4403:Abca12	UTSW	1	71,306,595 (GRCm39)	missense	probably damaging	1.00
R4524:Abca12	UTSW	1	71,342,076 (GRCm39)	missense	probably benign	0.19
R4615:Abca12	UTSW	1	71,369,493 (GRCm39)	missense	probably benign
R4617:Abca12	UTSW	1	71,369,493 (GRCm39)	missense	probably benign
R4714:Abca12	UTSW	1	71,360,609 (GRCm39)	missense	probably benign	0.00
R4809:Abca12	UTSW	1	71,318,015 (GRCm39)	missense	probably benign	0.10
R4810:Abca12	UTSW	1	71,342,771 (GRCm39)	missense	probably benign	0.00
R4825:Abca12	UTSW	1	71,341,844 (GRCm39)	missense	possibly damaging	0.70
R4990:Abca12	UTSW	1	71,334,098 (GRCm39)	missense	possibly damaging	0.61
R5013:Abca12	UTSW	1	71,303,926 (GRCm39)	missense	probably damaging	0.99
R5026:Abca12	UTSW	1	71,356,383 (GRCm39)	missense	probably benign	0.04
R5064:Abca12	UTSW	1	71,340,119 (GRCm39)	missense	probably damaging	1.00
R5188:Abca12	UTSW	1	71,330,651 (GRCm39)	missense	probably benign	0.23
R5234:Abca12	UTSW	1	71,302,823 (GRCm39)	missense	probably damaging	0.99
R5267:Abca12	UTSW	1	71,374,933 (GRCm39)	splice site	probably benign
R5302:Abca12	UTSW	1	71,323,111 (GRCm39)	missense	possibly damaging	0.91
R5441:Abca12	UTSW	1	71,334,215 (GRCm39)	missense	probably damaging	1.00
R5451:Abca12	UTSW	1	71,334,076 (GRCm39)	missense	possibly damaging	0.94
R5526:Abca12	UTSW	1	71,331,605 (GRCm39)	missense	probably benign	0.29
R5529:Abca12	UTSW	1	71,304,040 (GRCm39)	missense	probably damaging	1.00
R5615:Abca12	UTSW	1	71,346,218 (GRCm39)	missense	probably damaging	1.00
R5649:Abca12	UTSW	1	71,330,501 (GRCm39)	missense	probably damaging	1.00
R5800:Abca12	UTSW	1	71,360,591 (GRCm39)	missense	possibly damaging	0.78
R5807:Abca12	UTSW	1	71,342,651 (GRCm39)	missense	probably damaging	1.00
R5878:Abca12	UTSW	1	71,385,792 (GRCm39)	missense	possibly damaging	0.79
R5987:Abca12	UTSW	1	71,297,257 (GRCm39)	missense	probably damaging	1.00
R6280:Abca12	UTSW	1	71,311,619 (GRCm39)	missense	probably benign	0.04
R6316:Abca12	UTSW	1	71,353,118 (GRCm39)	missense	probably benign	0.01
R6337:Abca12	UTSW	1	71,334,172 (GRCm39)	missense	probably damaging	1.00
R6383:Abca12	UTSW	1	71,286,343 (GRCm39)	missense	probably benign	0.03
R6564:Abca12	UTSW	1	71,349,009 (GRCm39)	missense	possibly damaging	0.57
R6582:Abca12	UTSW	1	71,297,384 (GRCm39)	missense	probably benign	0.00
R6756:Abca12	UTSW	1	71,298,512 (GRCm39)	splice site	probably null
R6876:Abca12	UTSW	1	71,302,667 (GRCm39)	missense	probably damaging	0.98
R6999:Abca12	UTSW	1	71,356,321 (GRCm39)	nonsense	probably null
R7145:Abca12	UTSW	1	71,346,212 (GRCm39)	missense	possibly damaging	0.92
R7272:Abca12	UTSW	1	71,287,591 (GRCm39)	missense	probably damaging	0.99
R7285:Abca12	UTSW	1	71,388,314 (GRCm39)	nonsense	probably null
R7421:Abca12	UTSW	1	71,286,295 (GRCm39)	nonsense	probably null
R7531:Abca12	UTSW	1	71,286,332 (GRCm39)	missense	probably damaging	0.99
R7592:Abca12	UTSW	1	71,327,836 (GRCm39)	missense	probably benign	0.01
R7687:Abca12	UTSW	1	71,297,341 (GRCm39)	missense	probably benign	0.00
R7690:Abca12	UTSW	1	71,353,313 (GRCm39)	missense	probably benign	0.00
R7709:Abca12	UTSW	1	71,374,887 (GRCm39)	missense	probably benign	0.00
R7736:Abca12	UTSW	1	71,359,123 (GRCm39)	missense	probably benign	0.01
R7754:Abca12	UTSW	1	71,342,046 (GRCm39)	missense	probably benign
R7761:Abca12	UTSW	1	71,369,447 (GRCm39)	missense	probably damaging	1.00
R7808:Abca12	UTSW	1	71,313,793 (GRCm39)	splice site	probably null
R7816:Abca12	UTSW	1	71,331,588 (GRCm39)	missense	probably benign	0.01
R7821:Abca12	UTSW	1	71,298,950 (GRCm39)	missense	probably benign	0.12
R7827:Abca12	UTSW	1	71,453,837 (GRCm39)	start gained	probably benign
R7829:Abca12	UTSW	1	71,331,580 (GRCm39)	missense	probably benign	0.37
R7863:Abca12	UTSW	1	71,332,656 (GRCm39)	missense	probably damaging	0.96
R8053:Abca12	UTSW	1	71,388,328 (GRCm39)	nonsense	probably null
R8093:Abca12	UTSW	1	71,319,552 (GRCm39)	missense	probably benign	0.00
R8120:Abca12	UTSW	1	71,298,540 (GRCm39)	missense	possibly damaging	0.92
R8136:Abca12	UTSW	1	71,287,556 (GRCm39)	missense	probably benign	0.15
R8155:Abca12	UTSW	1	71,330,497 (GRCm39)	missense	probably damaging	1.00
R8189:Abca12	UTSW	1	71,324,885 (GRCm39)	missense	probably damaging	1.00
R8233:Abca12	UTSW	1	71,390,916 (GRCm39)	missense	probably benign	0.00
R8249:Abca12	UTSW	1	71,360,971 (GRCm39)	missense	probably benign	0.00
R8255:Abca12	UTSW	1	71,359,058 (GRCm39)	missense	probably benign	0.13
R8300:Abca12	UTSW	1	71,353,123 (GRCm39)	missense	possibly damaging	0.77
R8339:Abca12	UTSW	1	71,324,831 (GRCm39)	missense	probably damaging	1.00
R8490:Abca12	UTSW	1	71,323,256 (GRCm39)	missense	probably damaging	1.00
R8494:Abca12	UTSW	1	71,327,821 (GRCm39)	missense	probably benign	0.02
R8527:Abca12	UTSW	1	71,349,047 (GRCm39)	critical splice acceptor site	probably null
R8542:Abca12	UTSW	1	71,349,047 (GRCm39)	critical splice acceptor site	probably null
R8692:Abca12	UTSW	1	71,327,874 (GRCm39)	missense	probably damaging	0.96
R8723:Abca12	UTSW	1	71,360,897 (GRCm39)	missense	probably benign	0.04
R8796:Abca12	UTSW	1	71,297,248 (GRCm39)	critical splice donor site	probably benign
R8911:Abca12	UTSW	1	71,380,690 (GRCm39)	missense	probably benign	0.07
R8913:Abca12	UTSW	1	71,303,972 (GRCm39)	missense	probably damaging	1.00
R8957:Abca12	UTSW	1	71,360,784 (GRCm39)	missense	possibly damaging	0.90
R9000:Abca12	UTSW	1	71,353,195 (GRCm39)	missense	probably damaging	1.00
R9137:Abca12	UTSW	1	71,298,525 (GRCm39)	missense	possibly damaging	0.80
R9228:Abca12	UTSW	1	71,332,599 (GRCm39)	missense	probably damaging	1.00
R9237:Abca12	UTSW	1	71,318,557 (GRCm39)	missense	probably damaging	0.97
R9299:Abca12	UTSW	1	71,359,042 (GRCm39)	missense	possibly damaging	0.48
R9419:Abca12	UTSW	1	71,342,649 (GRCm39)	missense	possibly damaging	0.81
R9492:Abca12	UTSW	1	71,297,380 (GRCm39)	missense	possibly damaging	0.81
R9538:Abca12	UTSW	1	71,380,672 (GRCm39)	missense	probably benign	0.04
R9585:Abca12	UTSW	1	71,342,745 (GRCm39)	missense	probably damaging	1.00
R9658:Abca12	UTSW	1	71,325,634 (GRCm39)	missense	probably damaging	0.97
R9763:Abca12	UTSW	1	71,302,717 (GRCm39)	missense	possibly damaging	0.84
X0013:Abca12	UTSW	1	71,287,592 (GRCm39)	missense	probably damaging	0.99
X0018:Abca12	UTSW	1	71,353,669 (GRCm39)	missense	probably benign
X0063:Abca12	UTSW	1	71,388,223 (GRCm39)	missense	probably benign	0.15
X0065:Abca12	UTSW	1	71,380,620 (GRCm39)	critical splice donor site	probably null
Z1176:Abca12	UTSW	1	71,323,229 (GRCm39)	missense	probably damaging	1.00
Z1177:Abca12	UTSW	1	71,331,690 (GRCm39)	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71,321,970 (GRCm39)	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71,315,241 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCAATCACTGAGAAGCTGTAGTCTGAG -3'
(R):5'- CAAAATCATTGTCTGTGTTGGGATGCC -3'

Sequencing Primer
(F):5'- CTGTAGTCTGAGAAGTACAGGAAC -3'
(R):5'- GATGCCACTCTGAGTGCATAAAATC -3'

Posted On

2013-11-18