Mutagenetix > Incidental Mutations

Incidental Mutation 'R0394:Abca8a'

31878

Institutional Source

Beutler Lab

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

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

Synonyms

MMRRC Submission

038600-MU

Accession Numbers

Genbank: NM_153145

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110025634-110095978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110026343 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1610 (V1610A)

Ref Sequence

ENSEMBL: ENSMUSP00000102275 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046223
AA Change: V1609A

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: V1609A

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: V1610A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: V1610A

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: V1610A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: V1610A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141279

Meta Mutation Damage Score

0.0960

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 138,067,304	S751R	probably damaging	Het
4933417A18Rik	T	C	13: 34,932,653		probably benign	Het
Actl10	A	T	2: 154,553,037	H202L	probably benign	Het
Alox12	A	T	11: 70,245,935	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,172,203	F5I	probably benign	Het
Atn1	T	C	6: 124,749,733		probably benign	Het
Atrnl1	T	A	19: 57,673,176	N529K	probably benign	Het
B3gntl1	C	T	11: 121,619,715	G336D	probably damaging	Het
Bmp1	G	A	14: 70,490,034	A703V	probably damaging	Het
Brat1	T	G	5: 140,718,386	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,625,497	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,958,731	D190E	probably benign	Het
Cenpe	T	C	3: 135,216,425		probably benign	Het
Clstn1	A	G	4: 149,644,178	D687G	probably benign	Het
Coro1a	A	G	7: 126,700,640	F337L	probably benign	Het
Ddx49	T	A	8: 70,296,925	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,522,812	D273V	possibly damaging	Het
Derl2	A	T	11: 71,014,561	F32I	probably benign	Het
Dmrta1	A	G	4: 89,692,039	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,333,750	N559S	probably damaging	Het
Dusp26	G	T	8: 31,091,959	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,885,218	I492T	probably benign	Het
Exoc7	G	T	11: 116,300,398	Q219K	probably damaging	Het
F2r	T	C	13: 95,604,476	T184A	probably damaging	Het
Fbf1	G	A	11: 116,152,462		probably benign	Het
Fbxo28	A	G	1: 182,317,015	M328T	probably benign	Het
Fsip2	T	A	2: 82,991,075	D5717E	possibly damaging	Het
Gnpat	C	A	8: 124,880,225	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,875,579		probably benign	Het
Greb1l	T	C	18: 10,523,374	V844A	probably damaging	Het
Hps1	G	T	19: 42,770,899		probably null	Het
Inppl1	G	T	7: 101,828,195		probably benign	Het
Isca1	C	T	13: 59,758,885		probably null	Het
Itgb2	T	A	10: 77,542,475	C46S	probably damaging	Het
Kifc5b	C	T	17: 26,923,082	T178M	probably benign	Het
Krt80	T	C	15: 101,352,299	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,668,741	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,806,424		probably benign	Het
Mettl18	A	G	1: 163,996,341	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,950,168	L336P	probably benign	Het
Mgat4b	A	G	11: 50,230,919		probably null	Het
Mtmr14	C	T	6: 113,280,688	R233*	probably null	Het
Nbea	T	C	3: 56,029,907	Y761C	probably damaging	Het
Neb	A	T	2: 52,177,559		probably null	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Olfr814	T	A	10: 129,873,942	I272L	probably benign	Het
Oxr1	T	A	15: 41,817,197	M177K	probably damaging	Het
Pgm2l1	A	G	7: 100,252,198	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,996,804		probably benign	Het
Pi4kb	G	A	3: 94,996,805		probably benign	Het
Pirb	T	A	7: 3,719,248	S199C	probably benign	Het
Prss23	A	C	7: 89,509,847	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,757,819		probably benign	Het
Rdh7	T	A	10: 127,884,670	T278S	probably benign	Het
Rnf219	T	C	14: 104,478,853	R695G	possibly damaging	Het
Rrp1b	A	G	17: 32,058,564	D606G	probably benign	Het
Rxfp1	T	A	3: 79,652,377	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 150,067,388	V514A	probably benign	Het
Scel	A	T	14: 103,562,518	E202V	probably benign	Het
Slc25a36	G	A	9: 97,080,204	A244V	probably benign	Het
Slc2a13	T	G	15: 91,516,392	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,352,530	N456S	probably benign	Het
Slc6a12	G	T	6: 121,346,998		probably null	Het
Spag6l	T	C	16: 16,780,629	I333V	probably benign	Het
Spen	G	A	4: 141,474,203	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,766,640	D366G	probably damaging	Het
Stk33	T	C	7: 109,341,489	S5G	probably benign	Het
Tle2	T	C	10: 81,577,648	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,226,652	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556		probably null	Het
Trmt13	A	G	3: 116,582,650	F364S	probably damaging	Het
Unkl	T	A	17: 25,230,777		probably null	Het
Uvrag	A	G	7: 99,004,719		probably benign	Het
Vmn2r8	T	A	5: 108,802,072	N303I	probably benign	Het
Vsig10l	A	G	7: 43,465,455	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,600,920	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,883,262	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,886,065	Y174*	probably null	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
IGL02934:Abca8a	APN	11	110040588	missense	probably damaging	1.00
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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTTAAACTCAGGAATGCACACACTT -3'
(R):5'- TGAATGAACTCTTCTTAGCCATCAGAGC -3'

Sequencing Primer
(F):5'- gctttttcccatgatcctaatcc -3'
(R):5'- CTTAGCCATCAGAGCATAAAATGTC -3'

Posted On

2013-04-24