Mutagenetix > Incidental Mutation

Incidental Mutation 'R8255:Abca12'

640585

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

067681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71282249-71454069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71359058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 583 (I583F)

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

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

AlphaFold

E9Q876

Predicted Effect

probably benign
Transcript: ENSMUST00000087268
AA Change: I583F

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: I583F

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (46/46)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,415,850 (GRCm39)	T648S	possibly damaging	Het
Abca4	A	T	3: 121,948,926 (GRCm39)	M1732L	probably benign	Het
Ank2	A	G	3: 126,740,398 (GRCm39)	S1742P	unknown	Het
Birc6	G	A	17: 74,969,775 (GRCm39)	A4273T	probably damaging	Het
Chd5	A	G	4: 152,463,880 (GRCm39)	T1450A	probably damaging	Het
Dhx32	T	C	7: 133,339,120 (GRCm39)	N305S	probably benign	Het
Dnah7c	T	C	1: 46,698,589 (GRCm39)	S2174P	probably damaging	Het
Fat2	T	A	11: 55,161,101 (GRCm39)	I3210F	probably benign	Het
Gm12888	A	G	4: 121,181,994 (GRCm39)	S33P	probably damaging	Het
Gpaa1	T	C	15: 76,217,438 (GRCm39)	L292P	probably damaging	Het
Gzmg	T	A	14: 56,395,753 (GRCm39)	R69W	probably damaging	Het
Hat1	A	G	2: 71,239,347 (GRCm39)	D40G	probably damaging	Het
Hcrtr2	T	A	9: 76,140,203 (GRCm39)	I362F	probably damaging	Het
Hmmr	T	C	11: 40,598,262 (GRCm39)	E650G	probably damaging	Het
Ifi35	A	T	11: 101,348,608 (GRCm39)	M180L	probably benign	Het
Ifi44	A	T	3: 151,451,619 (GRCm39)	H162Q	probably benign	Het
Il1rl2	T	C	1: 40,404,471 (GRCm39)	F531L	probably damaging	Het
Ipcef1	T	G	10: 6,870,007 (GRCm39)	K182T	probably benign	Het
Med27	C	A	2: 29,414,376 (GRCm39)		probably null	Het
Med31	G	A	11: 72,106,294 (GRCm39)		probably benign	Het
Moxd1	A	G	10: 24,099,700 (GRCm39)	T67A	probably benign	Het
Myh3	A	G	11: 66,985,848 (GRCm39)	E1266G	probably damaging	Het
Nkx2-4	C	A	2: 146,925,924 (GRCm39)	E313*	probably null	Het
Nol6	G	T	4: 41,120,168 (GRCm39)	R487S	probably benign	Het
Or2v1	C	A	11: 49,025,307 (GRCm39)	A96D	probably benign	Het
Or2z8	T	A	8: 72,811,607 (GRCm39)	F28I	possibly damaging	Het
Or4k15c	C	T	14: 50,321,329 (GRCm39)	V270I	noncoding transcript	Het
Or5p51	A	G	7: 107,444,368 (GRCm39)	S191P	probably damaging	Het
Rnf135	A	G	11: 80,084,713 (GRCm39)	D162G	probably benign	Het
Sdr42e1	G	T	8: 118,390,502 (GRCm39)	N46K	probably benign	Het
Skor2	T	C	18: 76,946,664 (GRCm39)	S129P	unknown	Het
Slc7a11	A	T	3: 50,382,177 (GRCm39)	I190N	probably damaging	Het
Smc5	A	T	19: 23,186,290 (GRCm39)	F1056I		Het
Son	A	T	16: 91,461,824 (GRCm39)	Q2243L	unknown	Het
Sult1a1	T	A	7: 126,274,280 (GRCm39)	I101F	possibly damaging	Het
Sult3a2	T	C	10: 33,655,747 (GRCm39)	I77M	probably benign	Het
Tas1r1	A	T	4: 152,116,774 (GRCm39)	S287T	probably benign	Het
Thbs3	A	C	3: 89,132,565 (GRCm39)	T836P	probably benign	Het
Tlcd3b	G	A	7: 126,423,275 (GRCm39)	V6M	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnfrsf8	A	T	4: 145,041,653 (GRCm39)	M1K	probably null	Het
Vmn1r121	T	G	7: 20,831,679 (GRCm39)	N254H	probably benign	Het
Vmn1r179	C	T	7: 23,628,436 (GRCm39)	A209V	probably benign	Het
Wdr31	A	T	4: 62,381,634 (GRCm39)	S66T	probably benign	Het
Zbtb18	T	C	1: 177,275,003 (GRCm39)	V121A	probably damaging	Het
Zfp30	T	A	7: 29,488,826 (GRCm39)	M82K	probably benign	Het
Zzef1	A	G	11: 72,765,955 (GRCm39)	Q1494R	probably benign	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
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
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'- GGTACAGCTTAGTGGTAGGTCC -3'
(R):5'- CGAGGCATGCATGTTCAATAG -3'

Sequencing Primer
(F):5'- CACACGCATGCATGTGC -3'
(R):5'- GCATGTTCAATAGCTGTTAATCCAG -3'

Posted On

2020-07-28