Mutagenetix > Incidental Mutations

Incidental Mutation 'R6189:Abca8a'

502407

Institutional Source

Beutler Lab

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

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

Synonyms

MMRRC Submission

044329-MU

Accession Numbers

Genbank: NM_153145

Is this an essential gene?

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

Stock #

R6189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110025634-110095978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110030884 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1448 (D1448G)

Ref Sequence

ENSEMBL: ENSMUSP00000102275 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000046223
AA Change: D1447G

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

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: D1447G

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: D1448G

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

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: D1448G

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: D1448G

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

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: D1448G

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

0.8331

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,167,054		probably benign	Het
Actn2	C	T	13: 12,276,440	D693N	probably damaging	Het
Adam3	A	C	8: 24,711,336	I267R	probably benign	Het
Akap2	A	G	4: 57,855,928	E419G	probably benign	Het
Aldh1l2	A	G	10: 83,508,013		probably null	Het
C4bp	T	C	1: 130,636,819	Y376C	probably damaging	Het
Cacna1h	A	G	17: 25,397,844	W101R	probably damaging	Het
Ccdc84	G	A	9: 44,410,321	R328C	probably benign	Het
Ccdc97	T	A	7: 25,716,098	T47S	probably benign	Het
Cnot6l	G	A	5: 96,098,277	T171I	probably benign	Het
Cntnap2	T	A	6: 47,271,298	S1213T	probably damaging	Het
Cxcl10	A	T	5: 92,348,113	L55Q	probably benign	Het
Cyp1a1	T	C	9: 57,700,683	V198A	probably damaging	Het
Dclre1b	A	G	3: 103,803,533	V354A	probably damaging	Het
Dmxl1	C	T	18: 49,893,335	H1837Y	probably benign	Het
Dnajc13	G	C	9: 104,213,886	D665E	probably benign	Het
Dnmbp	T	C	19: 43,890,309	T108A	probably benign	Het
Dnmbp	T	A	19: 43,901,511	T606S	probably benign	Het
Dok5	T	A	2: 170,800,851	I23N	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Epha5	A	T	5: 84,237,540	F311I	probably damaging	Het
Erbb4	T	A	1: 68,043,916	M1059L	probably benign	Het
Fbxo40	A	G	16: 36,966,164	I681T	probably benign	Het
Flg2	T	A	3: 93,220,074	C2098S	unknown	Het
Gm10471	A	G	5: 26,085,693	I160T	probably benign	Het
Gm11397	A	T	13: 33,404,444	E337D	probably benign	Het
Gpr87	T	A	3: 59,179,229	D285V	probably damaging	Het
Hrh1	T	A	6: 114,479,998	V80D	probably damaging	Het
Hunk	G	A	16: 90,487,881	R351K	probably benign	Het
Ifna12	A	G	4: 88,603,011	W100R	probably damaging	Het
Ift57	G	A	16: 49,763,813	G310S	probably damaging	Het
Igf1r	T	A	7: 68,207,336	Y1015*	probably null	Het
Igkv14-130	T	C	6: 67,791,448	I96T	probably damaging	Het
Il34	C	T	8: 110,742,718	S155N	probably benign	Het
Itga7	T	C	10: 128,950,403	S938P	possibly damaging	Het
Itgam	A	G	7: 128,112,504	M764V	probably benign	Het
Lao1	T	A	4: 118,967,880	M299K	probably benign	Het
Lnpep	A	T	17: 17,566,739	S533T	possibly damaging	Het
Lrp4	T	C	2: 91,475,234	V283A	possibly damaging	Het
Magi3	G	T	3: 104,050,865	H635N	probably damaging	Het
Mecr	A	T	4: 131,865,254		probably null	Het
Mgrn1	T	C	16: 4,910,810		probably null	Het
Micalcl	A	C	7: 112,412,880	N646H	probably damaging	Het
Mymk	C	T	2: 27,067,365	V39I	possibly damaging	Het
Nav3	T	C	10: 109,720,019	S1684G	probably damaging	Het
Ntn5	A	T	7: 45,693,220	D330V	probably benign	Het
Nupl2	G	T	5: 24,175,454	G149V	probably damaging	Het
Nutm2	T	A	13: 50,469,738	V157D	possibly damaging	Het
Obscn	T	C	11: 59,069,934	I3460V	probably benign	Het
Olfr1037	A	T	2: 86,084,913	M288K	possibly damaging	Het
Pcdh15	C	T	10: 74,342,651	A580V	probably null	Het
Pcdhb10	T	A	18: 37,412,403	H177Q	probably damaging	Het
Pitx2	T	C	3: 129,218,469	Y130H	probably damaging	Het
Pmch	G	T	10: 88,091,386		probably null	Het
Pofut2	T	A	10: 77,268,586	I399N	probably damaging	Het
Prr36	C	A	8: 4,214,177		probably benign	Het
Ptprq	C	A	10: 107,517,887	C2256F	probably damaging	Het
Rassf5	G	A	1: 131,244,979	A51V	probably damaging	Het
Retnla	A	G	16: 48,842,895	I54V	probably benign	Het
Rimbp2	A	G	5: 128,803,897	L142P	probably benign	Het
Ripk1	A	G	13: 34,032,501	T564A	probably benign	Het
Robo4	G	A	9: 37,403,533	E228K	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Homo
Rusc1	A	T	3: 89,089,012	L132Q	probably damaging	Het
Setd1a	T	C	7: 127,778,283		probably null	Het
Slc38a6	A	T	12: 73,310,196	K122M	probably damaging	Het
Susd5	A	T	9: 114,095,658	D203V	probably damaging	Het
Trip4	G	A	9: 65,879,152	R110*	probably null	Het
Tuba4a	T	A	1: 75,216,874	I95F	probably benign	Het
Ube2q2	T	A	9: 55,162,983	S70T	probably benign	Het
Umodl1	A	G	17: 30,996,282	I1027V	possibly damaging	Het
Unc80	G	A	1: 66,677,471	V2917I	probably benign	Het
Vmn1r70	T	A	7: 10,633,671	C29S	probably benign	Het
Vmn2r94	A	T	17: 18,257,734	D138E	probably benign	Het
Wee2	C	T	6: 40,449,683	H129Y	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514		probably benign	Het
Zfp872	A	T	9: 22,197,131	D42V	probably benign	Het
Zic5	T	G	14: 122,464,974	D115A	unknown	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
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	intron	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
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	intron	probably null
R7437:Abca8a	UTSW	11	110050964	missense	probably benign
R7733:Abca8a	UTSW	11	110054587	missense	probably benign	0.02
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'- GAAGTTGATTGTAAACCACCAGG -3'
(R):5'- CTCTTCAGGTTGGCAGATGC -3'

Sequencing Primer
(F):5'- GGAAACATAAGTACGTTTTCTCCC -3'
(R):5'- CAGCTGAAGTCTCCTGTGAAGAC -3'

Posted On

2018-02-27