Mutagenetix > Incidental Mutation

Incidental Mutation 'R5013:Abca12'

390601

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

042604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71282249-71454069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71303926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2117 (L2117P)

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

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

AlphaFold

E9Q876

Predicted Effect

probably damaging
Transcript: ENSMUST00000087268
AA Change: L2117P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: L2117P

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

Meta Mutation Damage Score

0.6832

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (86/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	T	4: 126,262,391 (GRCm39)	S386R	probably benign	Het
Agxt	T	C	1: 93,069,779 (GRCm39)		probably benign	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Anxa1	A	G	19: 20,360,287 (GRCm39)	V108A	probably benign	Het
Aqp3	A	G	4: 41,093,819 (GRCm39)	F225L	probably damaging	Het
Atp11b	T	G	3: 35,888,532 (GRCm39)	I934R	possibly damaging	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Bcr	A	G	10: 74,960,898 (GRCm39)	D443G	probably benign	Het
Cbfa2t3	G	T	8: 123,365,598 (GRCm39)	D211E	possibly damaging	Het
Ccdc146	A	T	5: 21,538,036 (GRCm39)	L96Q	probably damaging	Het
Cdh16	A	G	8: 105,343,660 (GRCm39)	I612T	probably damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajc2	G	A	5: 21,962,771 (GRCm39)	R521*	probably null	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Eif1ad19	T	A	12: 87,740,512 (GRCm39)	K16*	probably null	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fbxw17	C	T	13: 50,586,506 (GRCm39)	R403C	probably benign	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Gatd1	G	T	7: 140,988,861 (GRCm39)		probably benign	Het
Gm10330	A	T	12: 23,829,961 (GRCm39)	Y73*	probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Hdc	C	T	2: 126,446,220 (GRCm39)	E180K	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lamtor3	A	T	3: 137,630,909 (GRCm39)	R27S	probably damaging	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Morc1	A	G	16: 48,322,699 (GRCm39)	D332G	probably benign	Het
Myo15a	T	C	11: 60,382,493 (GRCm39)	I1523T	probably damaging	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nfix	A	G	8: 85,498,713 (GRCm39)	F87L	possibly damaging	Het
Nup155	C	A	15: 8,153,722 (GRCm39)	T421K	probably benign	Het
Or5ac25	A	T	16: 59,182,067 (GRCm39)	N171K	probably damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pds5a	A	C	5: 65,792,680 (GRCm39)	V751G	probably benign	Het
Podnl1	G	T	8: 84,852,965 (GRCm39)	C45F	probably damaging	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ptprk	T	A	10: 28,427,713 (GRCm39)	I764N	probably damaging	Het
Rbm33	A	T	5: 28,547,409 (GRCm39)	Q193L	probably benign	Het
Rnasel	C	A	1: 153,629,677 (GRCm39)	H64Q	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Scamp3	A	G	3: 89,088,216 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,439,497 (GRCm39)		probably null	Het
Six4	A	C	12: 73,150,400 (GRCm39)	I715R	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spdya	A	T	17: 71,869,499 (GRCm39)	Y98F	possibly damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Tex22	G	A	12: 113,052,104 (GRCm39)	C54Y	probably damaging	Het
Tmem198b	C	T	10: 128,637,942 (GRCm39)	R207H	probably damaging	Het
Trbv13-1	C	T	6: 41,093,189 (GRCm39)	Q42*	probably null	Het
Trcg1	T	C	9: 57,149,562 (GRCm39)	L378P	probably damaging	Het
Trpv5	T	G	6: 41,636,647 (GRCm39)	D433A	probably damaging	Het
Ube3b	A	G	5: 114,545,702 (GRCm39)	N654D	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vwa7	A	T	17: 35,241,709 (GRCm39)	Y448F	probably damaging	Het
Zan	A	C	5: 137,382,099 (GRCm39)	D5149E	unknown	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zhx1	G	A	15: 57,917,538 (GRCm39)	T236I	possibly 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
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
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'- TCTACCACTTTACTCAAGACCTAGC -3'
(R):5'- CATGTTTACTGTTCCCTGGGAAAC -3'

Sequencing Primer
(F):5'- TTTACTCAAGACCTAGCAAAAATCAG -3'
(R):5'- ACCCATCCAAGCTTGATTTTATTG -3'

Posted On

2016-06-06