Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00835:Abca12'

12428

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca12

Ensembl Gene

ENSMUSG00000050296

Gene Name

ATP-binding cassette, sub-family A member 12

Synonyms

4833417A11Rik, 4832428G11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

71282249-71454069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71341892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1023 (D1023G)

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

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

AlphaFold

E9Q876

Predicted Effect

probably damaging
Transcript: ENSMUST00000087268
AA Change: D1023G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: D1023G

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	G	6: 34,776,667 (GRCm39)	D391G	probably damaging	Het
Aggf1	C	A	13: 95,498,985 (GRCm39)	V450F	probably damaging	Het
Alms1	A	G	6: 85,599,116 (GRCm39)	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,537,106 (GRCm39)	F192L	probably benign	Het
Arnt	A	G	3: 95,397,651 (GRCm39)	D541G	probably damaging	Het
AU040320	A	G	4: 126,650,864 (GRCm39)		probably null	Het
Cep290	A	T	10: 100,399,242 (GRCm39)	R2255*	probably null	Het
Creb3l4	T	A	3: 90,149,294 (GRCm39)	H138L	possibly damaging	Het
Crispld2	G	A	8: 120,737,387 (GRCm39)	R46H	probably damaging	Het
Crlf3	T	C	11: 79,938,501 (GRCm39)	T379A	probably benign	Het
Ctsb	T	A	14: 63,373,099 (GRCm39)	D85E	probably damaging	Het
Etv2	A	T	7: 30,333,092 (GRCm39)	D325E	probably benign	Het
Fggy	T	A	4: 95,725,865 (GRCm39)	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,883,726 (GRCm39)	G90S	probably damaging	Het
Glra3	A	G	8: 56,394,012 (GRCm39)		probably benign	Het
Gpatch8	C	A	11: 102,369,375 (GRCm39)	A1388S	probably damaging	Het
Grin2b	T	A	6: 135,710,568 (GRCm39)	S993C	probably damaging	Het
Gsg1	A	T	6: 135,221,090 (GRCm39)	M103K	possibly damaging	Het
Il12rb2	A	T	6: 67,337,551 (GRCm39)	V110D	probably damaging	Het
Kat8	A	G	7: 127,519,676 (GRCm39)	D174G	probably damaging	Het
Krt82	A	T	15: 101,451,813 (GRCm39)	I334N	probably damaging	Het
Lrrfip1	C	T	1: 91,043,140 (GRCm39)	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,347,292 (GRCm39)	L3F	probably benign	Het
Man1c1	T	A	4: 134,291,843 (GRCm39)	Q575L	probably damaging	Het
Panx1	A	G	9: 14,919,140 (GRCm39)	S240P	probably damaging	Het
Phldb2	G	A	16: 45,571,819 (GRCm39)	T1191I	probably damaging	Het
Plb1	G	A	5: 32,521,516 (GRCm39)	E1456K	unknown	Het
Prtn3	A	G	10: 79,716,886 (GRCm39)	T84A	probably benign	Het
R3hdm1	T	C	1: 128,163,369 (GRCm39)		probably benign	Het
Sirpa	G	A	2: 129,451,103 (GRCm39)	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,308,421 (GRCm39)	H475N	probably benign	Het
Smgc	A	T	15: 91,728,623 (GRCm39)	D121V	probably damaging	Het
Spata16	A	T	3: 26,978,411 (GRCm39)	E459V	probably damaging	Het
Sult2a4	T	A	7: 13,643,714 (GRCm39)	E284D	probably benign	Het
Tbc1d32	A	G	10: 55,965,942 (GRCm39)		probably benign	Het
Thsd7a	A	C	6: 12,554,933 (GRCm39)	V317G	probably damaging	Het
Trh	T	C	6: 92,219,770 (GRCm39)	E182G	probably benign	Het
Tsc1	A	G	2: 28,562,478 (GRCm39)	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,523,955 (GRCm39)	C205G	probably damaging	Het
Unc79	T	G	12: 103,108,149 (GRCm39)		probably benign	Het
Vps13d	A	T	4: 144,887,222 (GRCm39)	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,713,783 (GRCm39)		probably null	Het
Zfp507	G	T	7: 35,475,463 (GRCm39)	H917N	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
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
R1086:Abca12	UTSW	1	71,334,220 (GRCm39)	splice site	probably benign
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

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2012-12-06