Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02934:Abca8a'

364216

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 8a

Synonyms

Accession Numbers

Genbank: NM_153145

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

110025634-110095978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110040588 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1246 (N1246K)

Ref Sequence

ENSEMBL: ENSMUSP00000102275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046223] [ENSMUST00000100287] [ENSMUST00000106664]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046223
AA Change: N1245K

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: N1245K

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	27	416	8e-26	PFAM
AAA	505	689	6.27e-9	SMART
Pfam:ABC2_membrane_3	860	1174	6.8e-15	PFAM
transmembrane domain	1196	1218	N/A	INTRINSIC
low complexity region	1246	1255	N/A	INTRINSIC
low complexity region	1288	1301	N/A	INTRINSIC
AAA	1313	1493	4.3e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100287
AA Change: N1246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: N1246K

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	27	416	3.9e-26	PFAM
AAA	506	690	6.27e-9	SMART
Pfam:ABC2_membrane_3	861	1175	3.3e-15	PFAM
transmembrane domain	1197	1219	N/A	INTRINSIC
low complexity region	1247	1256	N/A	INTRINSIC
low complexity region	1289	1302	N/A	INTRINSIC
AAA	1314	1494	4.3e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106664
AA Change: N1246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: N1246K

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	416	1.7e-23	PFAM
AAA	506	690	6.27e-9	SMART
Pfam:ABC2_membrane_3	861	1214	1.3e-12	PFAM
low complexity region	1247	1256	N/A	INTRINSIC
low complexity region	1289	1302	N/A	INTRINSIC
AAA	1314	1494	4.3e-7	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,162,359	R716*	probably null	Het
Acadl	A	G	1: 66,836,975	Y396H	probably benign	Het
Apol7c	A	T	15: 77,526,118	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,576,992	C990*	probably null	Het
Cachd1	C	T	4: 100,968,098	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,758	T48A	probably benign	Het
Ccdc138	G	T	10: 58,573,580		probably benign	Het
Cenpe	A	G	3: 135,264,351	E2231G	probably damaging	Het
Cog3	T	C	14: 75,741,689	I206V	probably damaging	Het
Cr2	A	G	1: 195,154,325		probably benign	Het
Ctdspl2	T	C	2: 121,979,009	V147A	probably damaging	Het
Cyp4f13	A	G	17: 32,929,871	V300A	probably damaging	Het
Dkk3	A	T	7: 112,150,747	M72K	probably damaging	Het
Dock3	A	T	9: 107,023,745	F340L	probably benign	Het
Fut1	A	G	7: 45,618,703	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 69,016,856	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,954,396	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,497,884	S1021P	probably damaging	Het
Krt13	A	C	11: 100,119,084	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,417,544	T372A	probably benign	Het
Manba	T	C	3: 135,544,749	V379A	probably benign	Het
Map1b	C	T	13: 99,435,131	V361I	probably benign	Het
Map4k1	A	G	7: 28,994,106	S399G	probably benign	Het
Mff	G	A	1: 82,747,094	R229H	probably damaging	Het
Naga	T	C	15: 82,330,200	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,025,557	M2045K	probably benign	Het
Nipal1	T	C	5: 72,647,907	L7P	probably damaging	Het
Olfr9	T	A	10: 128,990,089	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,640,727	M187K	probably benign	Het
Perp	A	T	10: 18,855,772	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,625,864	D169N	probably damaging	Het
Sel1l	G	A	12: 91,809,936	Q711*	probably null	Het
Sept5	T	C	16: 18,629,831	Y7C	probably damaging	Het
Spdya	A	T	17: 71,556,400	N48I	probably benign	Het
Stard6	T	A	18: 70,496,104		probably benign	Het
Sytl2	T	C	7: 90,375,992	V396A	probably benign	Het
Tcaf3	T	G	6: 42,593,898	M307L	probably benign	Het
Tdrd6	T	C	17: 43,627,887	N757D	probably benign	Het
Tgm1	T	A	14: 55,709,989	D305V	probably damaging	Het
Themis2	T	A	4: 132,789,551	M213L	probably damaging	Het
Tmem184c	A	G	8: 77,597,820	V347A	probably damaging	Het
Tmem214	A	G	5: 30,871,544	E159G	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Tshz1	A	T	18: 84,013,090	S1064R	probably damaging	Het
Ubr2	C	T	17: 46,957,340	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,929	I288N	probably benign	Het
Vmn2r97	T	C	17: 18,929,685	V445A	probably benign	Het
Whrn	G	A	4: 63,416,105	T813M	probably damaging	Het
Xirp2	C	T	2: 67,515,676	H2754Y	probably benign	Het

Other mutations in Abca8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abca8a	APN	11	110050939	missense	possibly damaging	0.52
IGL01099:Abca8a	APN	11	110074205	splice site	probably benign
IGL01100:Abca8a	APN	11	110058423	critical splice donor site	probably null
IGL01310:Abca8a	APN	11	110059975	missense	probably benign	0.02
IGL01357:Abca8a	APN	11	110031572	missense	probably benign	0.05
IGL01554:Abca8a	APN	11	110042166	missense	probably benign	0.24
IGL01937:Abca8a	APN	11	110083304	splice site	probably benign
IGL01945:Abca8a	APN	11	110083304	splice site	probably benign
IGL01987:Abca8a	APN	11	110074155	missense	possibly damaging	0.63
IGL02023:Abca8a	APN	11	110063116	missense	probably benign	0.04
IGL02208:Abca8a	APN	11	110059946	missense	probably damaging	1.00
IGL02378:Abca8a	APN	11	110078815	unclassified	probably benign
IGL02380:Abca8a	APN	11	110078815	unclassified	probably benign
IGL02387:Abca8a	APN	11	110078815	unclassified	probably benign
IGL02388:Abca8a	APN	11	110078815	unclassified	probably benign
IGL02524:Abca8a	APN	11	110078815	unclassified	probably benign
IGL02551:Abca8a	APN	11	110084242	missense	probably benign	0.05
IGL02831:Abca8a	APN	11	110053081	missense	probably damaging	1.00
IGL02836:Abca8a	APN	11	110070351	missense	possibly damaging	0.89
IGL02946:Abca8a	APN	11	110028215	splice site	probably benign
IGL02967:Abca8a	APN	11	110050936	missense	probably damaging	1.00
IGL02997:Abca8a	APN	11	110075533	splice site	probably benign
IGL03265:Abca8a	APN	11	110053103	missense	probably benign	0.01
G5030:Abca8a	UTSW	11	110070339	missense	probably damaging	1.00
H8562:Abca8a	UTSW	11	110043009	missense	probably benign
PIT4445001:Abca8a	UTSW	11	110075551	missense	probably damaging	0.99
R0060:Abca8a	UTSW	11	110070480	missense	probably damaging	1.00
R0060:Abca8a	UTSW	11	110070480	missense	probably damaging	1.00
R0084:Abca8a	UTSW	11	110036597	splice site	probably benign
R0394:Abca8a	UTSW	11	110026343	missense	probably damaging	0.99
R0477:Abca8a	UTSW	11	110065225	missense	probably benign
R0593:Abca8a	UTSW	11	110068099	missense	probably damaging	1.00
R0744:Abca8a	UTSW	11	110040564	missense	possibly damaging	0.91
R0764:Abca8a	UTSW	11	110059946	missense	probably damaging	1.00
R0787:Abca8a	UTSW	11	110042988	missense	possibly damaging	0.60
R0836:Abca8a	UTSW	11	110040564	missense	possibly damaging	0.91
R0848:Abca8a	UTSW	11	110028190	missense	probably damaging	1.00
R0894:Abca8a	UTSW	11	110050966	missense	probably benign	0.00
R1163:Abca8a	UTSW	11	110071530	missense	probably benign	0.01
R1224:Abca8a	UTSW	11	110040582	missense	probably damaging	1.00
R1474:Abca8a	UTSW	11	110069809	missense	probably damaging	1.00
R1596:Abca8a	UTSW	11	110068060	missense	possibly damaging	0.89
R1708:Abca8a	UTSW	11	110053102	missense	probably damaging	1.00
R1715:Abca8a	UTSW	11	110091580	missense	probably damaging	0.98
R1795:Abca8a	UTSW	11	110050966	missense	probably benign	0.00
R1832:Abca8a	UTSW	11	110071451	missense	probably damaging	0.99
R1852:Abca8a	UTSW	11	110069386	missense	probably damaging	1.00
R1887:Abca8a	UTSW	11	110089942	missense	probably damaging	1.00
R1891:Abca8a	UTSW	11	110091607	missense	probably benign	0.20
R1917:Abca8a	UTSW	11	110091515	splice site	probably benign
R1943:Abca8a	UTSW	11	110069863	missense	probably benign	0.00
R1962:Abca8a	UTSW	11	110026905	critical splice acceptor site	probably null
R2016:Abca8a	UTSW	11	110070387	missense	probably damaging	0.99
R2037:Abca8a	UTSW	11	110089984	splice site	probably null
R2098:Abca8a	UTSW	11	110036579	missense	probably damaging	1.00
R2102:Abca8a	UTSW	11	110068052	missense	probably damaging	1.00
R2134:Abca8a	UTSW	11	110030917	missense	probably null	1.00
R2220:Abca8a	UTSW	11	110026855	missense	probably damaging	1.00
R2269:Abca8a	UTSW	11	110026892	missense	probably damaging	1.00
R2395:Abca8a	UTSW	11	110068788	missense	probably damaging	1.00
R2847:Abca8a	UTSW	11	110042105	missense	probably damaging	1.00
R2849:Abca8a	UTSW	11	110042105	missense	probably damaging	1.00
R3508:Abca8a	UTSW	11	110063165	missense	probably benign
R3974:Abca8a	UTSW	11	110083502	missense	probably damaging	1.00
R4009:Abca8a	UTSW	11	110090107	missense	probably damaging	0.98
R4163:Abca8a	UTSW	11	110050982	missense	probably benign	0.00
R4274:Abca8a	UTSW	11	110090104	missense	probably damaging	0.96
R4507:Abca8a	UTSW	11	110063025	missense	probably benign	0.19
R4571:Abca8a	UTSW	11	110030058	missense	probably damaging	1.00
R4672:Abca8a	UTSW	11	110071876	missense	possibly damaging	0.94
R4700:Abca8a	UTSW	11	110070482	missense	probably damaging	1.00
R4770:Abca8a	UTSW	11	110071515	missense	possibly damaging	0.82
R4946:Abca8a	UTSW	11	110086474	missense	probably damaging	1.00
R4955:Abca8a	UTSW	11	110036512	missense	probably benign	0.00
R5186:Abca8a	UTSW	11	110091599	missense	probably null	0.31
R5190:Abca8a	UTSW	11	110089909	critical splice donor site	probably null
R5597:Abca8a	UTSW	11	110036537	missense	probably damaging	1.00
R5677:Abca8a	UTSW	11	110038399	missense	possibly damaging	0.51
R5757:Abca8a	UTSW	11	110042968	missense	probably benign	0.28
R5822:Abca8a	UTSW	11	110030879	missense	probably damaging	0.98
R5925:Abca8a	UTSW	11	110057223	missense	probably damaging	1.00
R6090:Abca8a	UTSW	11	110063222	critical splice acceptor site	probably null
R6122:Abca8a	UTSW	11	110070423	missense	probably benign	0.40
R6189:Abca8a	UTSW	11	110030884	missense	probably damaging	1.00
R6200:Abca8a	UTSW	11	110090050	missense	probably damaging	0.98
R6374:Abca8a	UTSW	11	110083390	nonsense	probably null
R7022:Abca8a	UTSW	11	110083500	missense	probably damaging	1.00
R7161:Abca8a	UTSW	11	110074142	missense	probably benign	0.09
R7198:Abca8a	UTSW	11	110078655	missense	probably damaging	1.00
R7220:Abca8a	UTSW	11	110089967	missense	probably benign	0.00
R7290:Abca8a	UTSW	11	110030888	missense	probably benign	0.03
R7381:Abca8a	UTSW	11	110030087	splice site	probably null
R7437:Abca8a	UTSW	11	110050964	missense	probably benign
R7733:Abca8a	UTSW	11	110054587	missense	probably benign	0.02
R7785:Abca8a	UTSW	11	110074206	splice site	probably null
R7917:Abca8a	UTSW	11	110068107	missense	probably damaging	1.00
R7948:Abca8a	UTSW	11	110050979	missense	probably benign
R7957:Abca8a	UTSW	11	110091613	start codon destroyed	probably null	1.00
R7958:Abca8a	UTSW	11	110031672	missense	probably damaging	1.00
R7981:Abca8a	UTSW	11	110089913	missense	probably benign	0.00
R8033:Abca8a	UTSW	11	110036522	missense	probably damaging	1.00
R8069:Abca8a	UTSW	11	110090050	missense	probably damaging	0.98
R8116:Abca8a	UTSW	11	110091594	missense	probably benign	0.27
R8289:Abca8a	UTSW	11	110036689	intron	probably benign
R8334:Abca8a	UTSW	11	110068824	missense	probably damaging	1.00
R8371:Abca8a	UTSW	11	110054647	missense	probably benign	0.31
R8406:Abca8a	UTSW	11	110086517	missense	probably damaging	1.00
R8438:Abca8a	UTSW	11	110075578	missense	probably damaging	1.00
R8670:Abca8a	UTSW	11	110075598	missense	probably damaging	1.00
R8807:Abca8a	UTSW	11	110083426	missense	probably benign	0.35
R8821:Abca8a	UTSW	11	110058536	missense	probably damaging	0.98
R8838:Abca8a	UTSW	11	110030055	missense	probably damaging	1.00
X0022:Abca8a	UTSW	11	110031097	missense	probably damaging	1.00
X0024:Abca8a	UTSW	11	110083335	missense	probably damaging	1.00
X0053:Abca8a	UTSW	11	110083484	missense	probably damaging	0.98

Posted On

2015-12-18