Mutagenetix > Incidental Mutations

Incidental Mutation 'R2134:Abca8a'

233652

Institutional Source

Beutler Lab

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

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

Synonyms

MMRRC Submission

040137-MU

Accession Numbers

Genbank: NM_153145

Is this an essential gene?

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

Stock #

R2134 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110025634-110095978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110030917 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1437 (V1437E)

Ref Sequence

ENSEMBL: ENSMUSP00000102275 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000046223
AA Change: V1436E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: V1436E

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 null
Transcript: ENSMUST00000100287
AA Change: V1437E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: V1437E

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 null
Transcript: ENSMUST00000106664
AA Change: V1437E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: V1437E

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	G	A	7: 134,012,288	R80*	probably null	Het
Adgrb3	G	T	1: 25,093,957	F479L	probably damaging	Het
Atf7ip	T	A	6: 136,605,487	V1165E	possibly damaging	Het
Atm	C	T	9: 53,467,964		probably null	Het
Atp11c	A	G	X: 60,276,783	Y593H	probably damaging	Het
Btnl1	A	G	17: 34,385,634	D463G	possibly damaging	Het
Cdc34b	T	G	11: 94,742,426	W151G	probably damaging	Het
Cdkal1	A	G	13: 29,354,677	S500P	possibly damaging	Het
Cenpf	T	C	1: 189,658,642	N998D	probably benign	Het
Ces2e	T	A	8: 104,932,539		probably null	Het
Chd7	A	G	4: 8,753,147	Q548R	probably damaging	Het
Chfr	T	A	5: 110,144,761		probably null	Het
Clu	A	G	14: 65,974,841		probably null	Het
Cntnap5c	A	G	17: 58,407,722	D1235G	probably damaging	Het
Col6a4	T	C	9: 106,066,661	S1205G	probably benign	Het
Ddx47	G	T	6: 135,015,350	E113*	probably null	Het
Dock4	A	G	12: 40,745,668	Y828C	probably benign	Het
Dync1h1	T	A	12: 110,656,631	N3553K	possibly damaging	Het
Egflam	C	T	15: 7,234,279	C730Y	probably damaging	Het
Fam83b	T	C	9: 76,491,016	Y935C	probably damaging	Het
Fam83g	A	G	11: 61,703,684	I681M	probably benign	Het
Fastk	T	C	5: 24,445,141	R3G	probably damaging	Het
Fxr1	A	T	3: 34,058,047	E367D	probably damaging	Het
Gatb	A	G	3: 85,611,370	D261G	probably damaging	Het
Gm5617	T	C	9: 48,495,817	S84P	possibly damaging	Het
Gm6614	T	C	6: 141,980,978	I541V	probably damaging	Het
Hecw1	C	T	13: 14,377,700	E104K	probably damaging	Het
Il31ra	T	C	13: 112,543,888	K265R	possibly damaging	Het
Khsrp	GTCATT	GT	17: 57,024,410		probably null	Het
Lrp2	T	A	2: 69,511,067	D923V	probably damaging	Het
Ltn1	A	G	16: 87,382,713	L1520P	probably damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Map1s	T	G	8: 70,913,882	V477G	probably benign	Het
Mical1	T	C	10: 41,482,712	L542P	probably damaging	Het
Mycbp2	T	C	14: 103,208,893	Y1800C	probably damaging	Het
Mylk	A	T	16: 34,986,476	D1697V	probably benign	Het
Nlrp1a	A	T	11: 71,124,188	F79I	probably benign	Het
Olfr653	T	C	7: 104,579,641		probably benign	Het
Pde9a	A	G	17: 31,386,310	Y6C	probably damaging	Het
Plxnd1	A	T	6: 115,957,548	I1808N	probably damaging	Het
Ppp1r13b	T	A	12: 111,833,733	T537S	probably benign	Het
Ppp2r2a	A	G	14: 67,016,475	F415L	possibly damaging	Het
Rabgap1	C	T	2: 37,563,487	R976*	probably null	Het
Rbfox3	T	C	11: 118,497,016	H195R	probably damaging	Het
Ripk4	A	T	16: 97,743,733	D571E	probably damaging	Het
Sdhaf4	T	A	1: 24,005,553	R16S	probably benign	Het
Slc17a1	G	T	13: 23,875,675	G130*	probably null	Het
Slc6a1	G	T	6: 114,302,016	A23S	probably benign	Het
Soga3	T	A	10: 29,196,399	Y562*	probably null	Het
Spock1	T	A	13: 57,436,139	Q321L	probably damaging	Het
Syne2	A	G	12: 75,952,786	I2318V	probably damaging	Het
Terf2ip	T	C	8: 112,011,639	V53A	possibly damaging	Het
Thrb	T	C	14: 18,033,487	F403L	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Uqcrfs1	T	C	13: 30,540,804	K251R	probably benign	Het
Vmn2r111	T	C	17: 22,573,104	E57G	possibly damaging	Het
Vmn2r114	T	A	17: 23,291,763	Y581F	probably damaging	Het
Vps13d	A	G	4: 145,148,339	V1866A	probably benign	Het
Washc5	A	T	15: 59,369,234	F84Y	probably damaging	Het
Yars	T	A	4: 129,197,199	Y28*	probably null	Het
Zfp638	A	G	6: 83,928,982	Y43C	probably damaging	Het
Zfp750	T	A	11: 121,513,932	H39L	probably damaging	Het
Zfr2	C	A	10: 81,242,901	S322R	probably damaging	Het
Zzef1	A	G	11: 72,880,624	D1644G	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
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
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	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'- CACCAGGAAACATAAGTACGTTTTC -3'
(R):5'- CTCTTCAGGTTGGCAGATGC -3'

Sequencing Primer
(F):5'- TGGATGGTGTTGACCACA -3'
(R):5'- TTGGCAGATGCGCTCAAG -3'

Posted On

2014-10-01