Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Abca8a'

77939

Institutional Source

Beutler Lab

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

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

Synonyms

MMRRC Submission

039015-MU

Accession Numbers

Genbank: NM_153145

Essential gene?

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

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110025634-110095978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110040564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1253 (D1253E)

Ref Sequence

ENSEMBL: ENSMUSP00000045808 (fasta)

Gene Model

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

AlphaFold

Q8K442

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046223
AA Change: D1253E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: D1253E

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

possibly damaging
Transcript: ENSMUST00000100287
AA Change: D1254E

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: D1254E

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

possibly damaging
Transcript: ENSMUST00000106664
AA Change: D1254E

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: D1254E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,364,120	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,350,255	G7D	probably benign	Het
Alg14	A	G	3: 121,298,610	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379		probably benign	Het
Asphd2	A	T	5: 112,391,769	L66H	probably damaging	Het
Astl	T	C	2: 127,342,419	F21L	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,776		probably benign	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Ces1f	A	T	8: 93,270,024	S214T	probably damaging	Het
Cfap43	C	A	19: 47,815,846	V304L	probably benign	Het
Col26a1	A	G	5: 136,765,300		probably null	Het
Cpa5	T	C	6: 30,623,211	S124P	probably damaging	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
D17H6S53E	A	T	17: 35,127,409		probably null	Het
D17Wsu92e	A	T	17: 27,786,138	S148R	probably damaging	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dnah11	G	A	12: 118,196,662	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519		probably benign	Het
Epn2	T	C	11: 61,519,491	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944		probably benign	Het
Fam217b	T	C	2: 178,420,989	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,999	H278R	probably benign	Het
Fhod3	T	A	18: 25,066,218	Y649N	probably damaging	Het
Gm5155	C	A	7: 17,904,981	A301E	possibly damaging	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Grap	T	A	11: 61,660,239	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,754,296	S670P	probably damaging	Het
Itga2	A	G	13: 114,856,679	V800A	probably damaging	Het
Itgae	A	T	11: 73,129,206	M845L	probably benign	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itpka	T	A	2: 119,750,831	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Kcnd2	T	C	6: 21,726,239		probably benign	Het
Kcnd2	T	A	6: 21,727,329	V627E	probably damaging	Het
Ktn1	A	G	14: 47,701,062		probably null	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Macf1	A	G	4: 123,494,882		probably null	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Nfkbia	C	A	12: 55,490,776	A211S	probably damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Otog	C	T	7: 46,269,362	T954I	possibly damaging	Het
Phlpp2	A	G	8: 109,937,106	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907		probably benign	Het
Plekha5	T	A	6: 140,589,634		probably benign	Het
Pmch	A	G	10: 88,091,224	I30V	probably benign	Het
Ppat	A	C	5: 76,922,501	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553	F85I	probably damaging	Het
Rbp3	T	G	14: 33,956,638	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,247,933	S85T	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Shc1	A	G	3: 89,422,969	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc30a7	T	A	3: 115,990,140		probably null	Het
Slc34a2	A	G	5: 53,067,707	T397A	probably benign	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Sorcs3	G	A	19: 48,487,394	V231I	probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Stard9	T	G	2: 120,696,999	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,687,430	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,741,940		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm3	C	T	2: 130,026,682		probably benign	Het
Thbs4	T	G	13: 92,758,038	D659A	probably damaging	Het
Tmed11	A	T	5: 108,795,309	M1K	probably null	Het
Tmpo	A	T	10: 91,161,953	C657*	probably null	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Urb1	T	C	16: 90,795,448	D308G	possibly damaging	Het
Vav3	A	G	3: 109,647,679	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,427,956	H231L	possibly damaging	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	probably damaging	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
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
R8884:Abca8a	UTSW	11	110074115	missense	possibly damaging	0.60
R8885:Abca8a	UTSW	11	110069479	missense	probably damaging	1.00
R8962:Abca8a	UTSW	11	110078808	missense	probably damaging	1.00
R8966:Abca8a	UTSW	11	110071419	critical splice donor site	probably null
R9272:Abca8a	UTSW	11	110063082	missense	probably damaging	0.99
R9331:Abca8a	UTSW	11	110026328	missense	probably damaging	1.00
R9397:Abca8a	UTSW	11	110030347	missense	probably damaging	1.00
R9498:Abca8a	UTSW	11	110086548	missense	probably damaging	0.99
R9529:Abca8a	UTSW	11	110056341	nonsense	probably null
R9564:Abca8a	UTSW	11	110074184	missense	probably benign	0.04
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'- CTTTTCAAGCAAGACCGAGTGCG -3'
(R):5'- GCCACGAAGCAATGACTGCTTTAC -3'

Sequencing Primer
(F):5'- CCATATTCTCAGGAAAGATGCTCG -3'
(R):5'- CAATGACTGCTTTACTTGGTGAC -3'

Posted On

2013-10-16