Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:Abca12'

53391

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

71242276-71414910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71263632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2143 (I2143V)

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

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

AlphaFold

E9Q876

Predicted Effect

probably benign
Transcript: ENSMUST00000087268
AA Change: I2143V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: I2143V

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,258,246 (GRCm38)	C282S	probably damaging	Het
Adgrg6	A	C	10: 14,409,798 (GRCm38)	I1148S	probably damaging	Het
Aox4	C	T	1: 58,240,775 (GRCm38)	R517*	probably null	Het
Arnt2	T	A	7: 84,285,829 (GRCm38)	D289V	probably benign	Het
Atad2b	A	G	12: 4,965,984 (GRCm38)	N570S	probably benign	Het
Aven	G	A	2: 112,629,785 (GRCm38)	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,505,179 (GRCm38)	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,124,333 (GRCm38)	S144P	probably benign	Het
Chd8	C	A	14: 52,231,532 (GRCm38)	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,524,438 (GRCm38)	N410S	probably benign	Het
Clip4	A	G	17: 71,849,939 (GRCm38)	I590V	probably benign	Het
Cnbp	C	T	6: 87,845,700 (GRCm38)	R27H	probably benign	Het
Col4a3	T	C	1: 82,682,301 (GRCm38)	V889A	unknown	Het
Cxcl5	T	C	5: 90,760,523 (GRCm38)		probably benign	Het
Dennd6a	G	T	14: 26,603,054 (GRCm38)	V171F	probably damaging	Het
Dhx38	T	C	8: 109,562,691 (GRCm38)	I26V	probably benign	Het
Dscaml1	A	G	9: 45,683,672 (GRCm38)	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,612,061 (GRCm38)		probably benign	Het
Fbn2	G	A	18: 58,095,240 (GRCm38)		probably benign	Het
Foxp2	T	A	6: 15,438,019 (GRCm38)	*715R	probably null	Het
Ftl1	A	T	7: 45,458,646 (GRCm38)	D65E	probably benign	Het
Galm	A	G	17: 80,183,280 (GRCm38)	T289A	probably benign	Het
Gm20721	A	G	2: 174,345,738 (GRCm38)	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,299,118 (GRCm38)	V47A	probably benign	Het
Gm5414	T	C	15: 101,628,134 (GRCm38)	S19G	probably benign	Het
H1f6	C	T	13: 23,696,049 (GRCm38)	L62F	probably damaging	Het
Hdac7	T	A	15: 97,793,935 (GRCm38)	E835D	possibly damaging	Het
Hspg2	C	T	4: 137,559,335 (GRCm38)	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,464,219 (GRCm38)	D114E	probably benign	Het
Kif5a	A	T	10: 127,239,196 (GRCm38)	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,244,235 (GRCm38)		probably null	Het
Miga1	G	T	3: 152,276,690 (GRCm38)	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,529,200 (GRCm38)	P182S	probably damaging	Het
Myo15a	A	G	11: 60,476,992 (GRCm38)	I193V	probably benign	Het
Myo1e	T	C	9: 70,316,589 (GRCm38)		probably benign	Het
Or13a26	A	T	7: 140,704,437 (GRCm38)	Y62F	probably damaging	Het
Or1e1c	A	T	11: 73,375,007 (GRCm38)	Q86L	probably benign	Het
Or5h22	T	A	16: 59,074,430 (GRCm38)	T217S	probably benign	Het
Pias1	T	C	9: 62,912,855 (GRCm38)	T277A	probably benign	Het
Skic3	G	A	13: 76,122,665 (GRCm38)	C127Y	probably damaging	Het
Slamf6	T	A	1: 171,938,099 (GRCm38)	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,220,764 (GRCm38)	D202G	probably damaging	Het
Snx13	T	A	12: 35,098,280 (GRCm38)	D269E	probably damaging	Het
Tiam2	A	T	17: 3,415,028 (GRCm38)	D344V	probably benign	Het
Tmem62	G	T	2: 120,979,219 (GRCm38)	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,560,035 (GRCm38)	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,047,584 (GRCm38)	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,489 (GRCm38)	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,804,540 (GRCm38)	G551D	probably damaging	Het
Ttn	A	G	2: 76,814,290 (GRCm38)	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328 (GRCm38)		probably benign	Het
Ubap2l	G	A	3: 90,009,256 (GRCm38)	Q915*	probably null	Het
Ubfd1	A	G	7: 122,078,472 (GRCm38)	E340G	probably benign	Het
Vil1	T	C	1: 74,434,887 (GRCm38)		probably null	Het
Vmn1r6	T	G	6: 57,002,544 (GRCm38)	L42V	probably benign	Het
Vps13c	A	G	9: 67,926,955 (GRCm38)	T1635A	probably damaging	Het
Zfhx3	T	A	8: 108,793,594 (GRCm38)	H449Q	probably benign	Het
Zfp750	A	T	11: 121,513,096 (GRCm38)	S318T	probably benign	Het

Other mutations in Abca12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abca12	APN	1	71,303,541 (GRCm38)	missense	possibly damaging	0.64
IGL00556:Abca12	APN	1	71,353,757 (GRCm38)	missense	probably benign	0.00
IGL00813:Abca12	APN	1	71,353,762 (GRCm38)	critical splice acceptor site	probably null
IGL00835:Abca12	APN	1	71,302,733 (GRCm38)	missense	probably damaging	1.00
IGL00921:Abca12	APN	1	71,285,729 (GRCm38)	missense	probably damaging	1.00
IGL01066:Abca12	APN	1	71,353,730 (GRCm38)	missense	possibly damaging	0.95
IGL01082:Abca12	APN	1	71,314,114 (GRCm38)	missense	probably damaging	1.00
IGL01310:Abca12	APN	1	71,284,156 (GRCm38)	missense	probably benign	0.00
IGL01360:Abca12	APN	1	71,286,489 (GRCm38)	missense	possibly damaging	0.95
IGL01585:Abca12	APN	1	71,319,886 (GRCm38)	missense	probably benign	0.00
IGL01608:Abca12	APN	1	71,259,442 (GRCm38)	missense	probably damaging	1.00
IGL01687:Abca12	APN	1	71,267,610 (GRCm38)	splice site	probably benign
IGL01700:Abca12	APN	1	71,280,390 (GRCm38)	missense	probably benign
IGL01723:Abca12	APN	1	71,314,168 (GRCm38)	missense	probably benign	0.01
IGL01804:Abca12	APN	1	71,276,183 (GRCm38)	missense	probably benign	0.01
IGL01982:Abca12	APN	1	71,346,698 (GRCm38)	missense	probably benign	0.34
IGL02136:Abca12	APN	1	71,247,142 (GRCm38)	missense	probably damaging	1.00
IGL02172:Abca12	APN	1	71,302,658 (GRCm38)	missense	probably benign	0.09
IGL02222:Abca12	APN	1	71,282,886 (GRCm38)	missense	probably benign	0.40
IGL02266:Abca12	APN	1	71,268,201 (GRCm38)	nonsense	probably null
IGL02449:Abca12	APN	1	71,401,749 (GRCm38)	splice site	probably null
IGL02471:Abca12	APN	1	71,258,198 (GRCm38)	missense	probably benign	0.00
IGL02496:Abca12	APN	1	71,288,553 (GRCm38)	missense	possibly damaging	0.55
IGL02552:Abca12	APN	1	71,294,747 (GRCm38)	missense	probably damaging	0.96
IGL02795:Abca12	APN	1	71,288,748 (GRCm38)	missense	probably damaging	1.00
IGL03000:Abca12	APN	1	71,321,800 (GRCm38)	missense	probably benign	0.01
IGL03031:Abca12	APN	1	71,314,024 (GRCm38)	missense	probably benign	0.00
IGL03131:Abca12	APN	1	71,346,702 (GRCm38)	missense	probably benign
IGL03260:Abca12	APN	1	71,284,099 (GRCm38)	missense	probably damaging	1.00
IGL03324:Abca12	APN	1	71,314,008 (GRCm38)	missense	probably benign
IGL03408:Abca12	APN	1	71,264,795 (GRCm38)	missense	probably damaging	1.00
R0016:Abca12	UTSW	1	71,294,800 (GRCm38)	missense	probably benign	0.35
R0016:Abca12	UTSW	1	71,294,800 (GRCm38)	missense	probably benign	0.35
R0121:Abca12	UTSW	1	71,259,786 (GRCm38)	splice site	probably null
R0172:Abca12	UTSW	1	71,279,402 (GRCm38)	missense	probably damaging	0.99
R0196:Abca12	UTSW	1	71,259,813 (GRCm38)	missense	possibly damaging	0.81
R0400:Abca12	UTSW	1	71,259,776 (GRCm38)	splice site	probably benign
R0466:Abca12	UTSW	1	71,302,663 (GRCm38)	missense	probably damaging	1.00
R0616:Abca12	UTSW	1	71,302,671 (GRCm38)	missense	probably damaging	1.00
R0668:Abca12	UTSW	1	71,263,614 (GRCm38)	missense	probably damaging	1.00
R0928:Abca12	UTSW	1	71,349,174 (GRCm38)	missense	probably benign	0.06
R1036:Abca12	UTSW	1	71,263,410 (GRCm38)	critical splice donor site	probably null
R1086:Abca12	UTSW	1	71,295,061 (GRCm38)	splice site	probably benign
R1300:Abca12	UTSW	1	71,244,808 (GRCm38)	missense	probably damaging	1.00
R1337:Abca12	UTSW	1	71,294,819 (GRCm38)	missense	probably benign	0.03
R1356:Abca12	UTSW	1	71,302,953 (GRCm38)	splice site	probably benign
R1372:Abca12	UTSW	1	71,294,857 (GRCm38)	missense	probably damaging	1.00
R1434:Abca12	UTSW	1	71,309,800 (GRCm38)	missense	probably benign	0.00
R1580:Abca12	UTSW	1	71,265,965 (GRCm38)	missense	possibly damaging	0.65
R1675:Abca12	UTSW	1	71,263,411 (GRCm38)	critical splice donor site	probably null
R1773:Abca12	UTSW	1	71,288,596 (GRCm38)	missense	probably damaging	1.00
R1829:Abca12	UTSW	1	71,295,029 (GRCm38)	missense	probably benign	0.26
R1922:Abca12	UTSW	1	71,319,924 (GRCm38)	missense	probably benign	0.10
R1927:Abca12	UTSW	1	71,244,840 (GRCm38)	missense	probably damaging	1.00
R2115:Abca12	UTSW	1	71,244,771 (GRCm38)	missense	probably benign	0.01
R2146:Abca12	UTSW	1	71,263,488 (GRCm38)	missense	probably benign	0.02
R2148:Abca12	UTSW	1	71,263,488 (GRCm38)	missense	probably benign	0.02
R2149:Abca12	UTSW	1	71,263,488 (GRCm38)	missense	probably benign	0.02
R2150:Abca12	UTSW	1	71,263,488 (GRCm38)	missense	probably benign	0.02
R2299:Abca12	UTSW	1	71,258,222 (GRCm38)	missense	probably damaging	1.00
R2392:Abca12	UTSW	1	71,258,105 (GRCm38)	missense	probably damaging	1.00
R2571:Abca12	UTSW	1	71,249,885 (GRCm38)	missense	probably benign	0.00
R3077:Abca12	UTSW	1	71,267,605 (GRCm38)	missense	probably benign	0.02
R3078:Abca12	UTSW	1	71,267,605 (GRCm38)	missense	probably benign	0.02
R3705:Abca12	UTSW	1	71,285,705 (GRCm38)	missense	probably damaging	1.00
R3800:Abca12	UTSW	1	71,265,887 (GRCm38)	missense	probably damaging	1.00
R3905:Abca12	UTSW	1	71,279,457 (GRCm38)	missense	probably benign	0.02
R3905:Abca12	UTSW	1	71,268,230 (GRCm38)	missense	possibly damaging	0.79
R3962:Abca12	UTSW	1	71,274,515 (GRCm38)	splice site	probably null
R4082:Abca12	UTSW	1	71,267,463 (GRCm38)	missense	possibly damaging	0.64
R4131:Abca12	UTSW	1	71,319,871 (GRCm38)	critical splice donor site	probably null
R4214:Abca12	UTSW	1	71,288,697 (GRCm38)	missense	probably damaging	0.99
R4403:Abca12	UTSW	1	71,267,436 (GRCm38)	missense	probably damaging	1.00
R4524:Abca12	UTSW	1	71,302,917 (GRCm38)	missense	probably benign	0.19
R4615:Abca12	UTSW	1	71,330,334 (GRCm38)	missense	probably benign
R4617:Abca12	UTSW	1	71,330,334 (GRCm38)	missense	probably benign
R4714:Abca12	UTSW	1	71,321,450 (GRCm38)	missense	probably benign	0.00
R4809:Abca12	UTSW	1	71,278,856 (GRCm38)	missense	probably benign	0.10
R4810:Abca12	UTSW	1	71,303,612 (GRCm38)	missense	probably benign	0.00
R4825:Abca12	UTSW	1	71,302,685 (GRCm38)	missense	possibly damaging	0.70
R4990:Abca12	UTSW	1	71,294,939 (GRCm38)	missense	possibly damaging	0.61
R5013:Abca12	UTSW	1	71,264,767 (GRCm38)	missense	probably damaging	0.99
R5026:Abca12	UTSW	1	71,317,224 (GRCm38)	missense	probably benign	0.04
R5064:Abca12	UTSW	1	71,300,960 (GRCm38)	missense	probably damaging	1.00
R5188:Abca12	UTSW	1	71,291,492 (GRCm38)	missense	probably benign	0.23
R5234:Abca12	UTSW	1	71,263,664 (GRCm38)	missense	probably damaging	0.99
R5267:Abca12	UTSW	1	71,335,774 (GRCm38)	splice site	probably benign
R5302:Abca12	UTSW	1	71,283,952 (GRCm38)	missense	possibly damaging	0.91
R5441:Abca12	UTSW	1	71,295,056 (GRCm38)	missense	probably damaging	1.00
R5451:Abca12	UTSW	1	71,294,917 (GRCm38)	missense	possibly damaging	0.94
R5526:Abca12	UTSW	1	71,292,446 (GRCm38)	missense	probably benign	0.29
R5529:Abca12	UTSW	1	71,264,881 (GRCm38)	missense	probably damaging	1.00
R5615:Abca12	UTSW	1	71,307,059 (GRCm38)	missense	probably damaging	1.00
R5649:Abca12	UTSW	1	71,291,342 (GRCm38)	missense	probably damaging	1.00
R5800:Abca12	UTSW	1	71,321,432 (GRCm38)	missense	possibly damaging	0.78
R5807:Abca12	UTSW	1	71,303,492 (GRCm38)	missense	probably damaging	1.00
R5878:Abca12	UTSW	1	71,346,633 (GRCm38)	missense	possibly damaging	0.79
R5987:Abca12	UTSW	1	71,258,098 (GRCm38)	missense	probably damaging	1.00
R6280:Abca12	UTSW	1	71,272,460 (GRCm38)	missense	probably benign	0.04
R6316:Abca12	UTSW	1	71,313,959 (GRCm38)	missense	probably benign	0.01
R6337:Abca12	UTSW	1	71,295,013 (GRCm38)	missense	probably damaging	1.00
R6383:Abca12	UTSW	1	71,247,184 (GRCm38)	missense	probably benign	0.03
R6564:Abca12	UTSW	1	71,309,850 (GRCm38)	missense	possibly damaging	0.57
R6582:Abca12	UTSW	1	71,258,225 (GRCm38)	missense	probably benign	0.00
R6756:Abca12	UTSW	1	71,259,353 (GRCm38)	splice site	probably null
R6876:Abca12	UTSW	1	71,263,508 (GRCm38)	missense	probably damaging	0.98
R6999:Abca12	UTSW	1	71,317,162 (GRCm38)	nonsense	probably null
R7145:Abca12	UTSW	1	71,307,053 (GRCm38)	missense	possibly damaging	0.92
R7272:Abca12	UTSW	1	71,248,432 (GRCm38)	missense	probably damaging	0.99
R7285:Abca12	UTSW	1	71,349,155 (GRCm38)	nonsense	probably null
R7421:Abca12	UTSW	1	71,247,136 (GRCm38)	nonsense	probably null
R7531:Abca12	UTSW	1	71,247,173 (GRCm38)	missense	probably damaging	0.99
R7592:Abca12	UTSW	1	71,288,677 (GRCm38)	missense	probably benign	0.01
R7687:Abca12	UTSW	1	71,258,182 (GRCm38)	missense	probably benign	0.00
R7690:Abca12	UTSW	1	71,314,154 (GRCm38)	missense	probably benign	0.00
R7709:Abca12	UTSW	1	71,335,728 (GRCm38)	missense	probably benign	0.00
R7736:Abca12	UTSW	1	71,319,964 (GRCm38)	missense	probably benign	0.01
R7754:Abca12	UTSW	1	71,302,887 (GRCm38)	missense	probably benign
R7761:Abca12	UTSW	1	71,330,288 (GRCm38)	missense	probably damaging	1.00
R7808:Abca12	UTSW	1	71,274,634 (GRCm38)	splice site	probably null
R7816:Abca12	UTSW	1	71,292,429 (GRCm38)	missense	probably benign	0.01
R7821:Abca12	UTSW	1	71,259,791 (GRCm38)	missense	probably benign	0.12
R7827:Abca12	UTSW	1	71,414,678 (GRCm38)	start gained	probably benign
R7829:Abca12	UTSW	1	71,292,421 (GRCm38)	missense	probably benign	0.37
R7863:Abca12	UTSW	1	71,293,497 (GRCm38)	missense	probably damaging	0.96
R8053:Abca12	UTSW	1	71,349,169 (GRCm38)	nonsense	probably null
R8093:Abca12	UTSW	1	71,280,393 (GRCm38)	missense	probably benign	0.00
R8120:Abca12	UTSW	1	71,259,381 (GRCm38)	missense	possibly damaging	0.92
R8136:Abca12	UTSW	1	71,248,397 (GRCm38)	missense	probably benign	0.15
R8155:Abca12	UTSW	1	71,291,338 (GRCm38)	missense	probably damaging	1.00
R8189:Abca12	UTSW	1	71,285,726 (GRCm38)	missense	probably damaging	1.00
R8233:Abca12	UTSW	1	71,351,757 (GRCm38)	missense	probably benign	0.00
R8249:Abca12	UTSW	1	71,321,812 (GRCm38)	missense	probably benign	0.00
R8255:Abca12	UTSW	1	71,319,899 (GRCm38)	missense	probably benign	0.13
R8300:Abca12	UTSW	1	71,313,964 (GRCm38)	missense	possibly damaging	0.77
R8339:Abca12	UTSW	1	71,285,672 (GRCm38)	missense	probably damaging	1.00
R8490:Abca12	UTSW	1	71,284,097 (GRCm38)	missense	probably damaging	1.00
R8494:Abca12	UTSW	1	71,288,662 (GRCm38)	missense	probably benign	0.02
R8527:Abca12	UTSW	1	71,309,888 (GRCm38)	critical splice acceptor site	probably null
R8542:Abca12	UTSW	1	71,309,888 (GRCm38)	critical splice acceptor site	probably null
R8692:Abca12	UTSW	1	71,288,715 (GRCm38)	missense	probably damaging	0.96
R8723:Abca12	UTSW	1	71,321,738 (GRCm38)	missense	probably benign	0.04
R8796:Abca12	UTSW	1	71,258,089 (GRCm38)	critical splice donor site	probably benign
R8911:Abca12	UTSW	1	71,341,531 (GRCm38)	missense	probably benign	0.07
R8913:Abca12	UTSW	1	71,264,813 (GRCm38)	missense	probably damaging	1.00
R8957:Abca12	UTSW	1	71,321,625 (GRCm38)	missense	possibly damaging	0.90
R9000:Abca12	UTSW	1	71,314,036 (GRCm38)	missense	probably damaging	1.00
R9137:Abca12	UTSW	1	71,259,366 (GRCm38)	missense	possibly damaging	0.80
R9228:Abca12	UTSW	1	71,293,440 (GRCm38)	missense	probably damaging	1.00
R9237:Abca12	UTSW	1	71,279,398 (GRCm38)	missense	probably damaging	0.97
R9299:Abca12	UTSW	1	71,319,883 (GRCm38)	missense	possibly damaging	0.48
R9419:Abca12	UTSW	1	71,303,490 (GRCm38)	missense	possibly damaging	0.81
R9492:Abca12	UTSW	1	71,258,221 (GRCm38)	missense	possibly damaging	0.81
R9538:Abca12	UTSW	1	71,341,513 (GRCm38)	missense	probably benign	0.04
R9585:Abca12	UTSW	1	71,303,586 (GRCm38)	missense	probably damaging	1.00
R9658:Abca12	UTSW	1	71,286,475 (GRCm38)	missense	probably damaging	0.97
R9763:Abca12	UTSW	1	71,263,558 (GRCm38)	missense	possibly damaging	0.84
X0013:Abca12	UTSW	1	71,248,433 (GRCm38)	missense	probably damaging	0.99
X0018:Abca12	UTSW	1	71,314,510 (GRCm38)	missense	probably benign
X0063:Abca12	UTSW	1	71,349,064 (GRCm38)	missense	probably benign	0.15
X0065:Abca12	UTSW	1	71,341,461 (GRCm38)	critical splice donor site	probably null
Z1176:Abca12	UTSW	1	71,284,070 (GRCm38)	missense	probably damaging	1.00
Z1177:Abca12	UTSW	1	71,292,531 (GRCm38)	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71,282,811 (GRCm38)	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71,276,082 (GRCm38)	missense	possibly damaging	0.94

Posted On

2013-06-28