Mutagenetix > Incidental Mutation

Incidental Mutation 'R5330:Abca16'

423152

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 16

Synonyms

MMRRC Submission

042912-MU

Accession Numbers

NCBI RefSeq: NM_001278943.1, NM_001278944.1; MGI:2388711

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120503377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 833 (I833N)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056042] [ENSMUST00000120490]

AlphaFold

E9PWJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000056042
AA Change: I832N

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: I832N

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	26	455	2.7e-23	PFAM
AAA	537	720	2.01e-7	SMART
Pfam:ABC2_membrane_3	898	1287	4.6e-25	PFAM
low complexity region	1325	1336	N/A	INTRINSIC
low complexity region	1342	1353	N/A	INTRINSIC
AAA	1378	1563	4.23e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120490
AA Change: I833N

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: I833N

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	25	456	2.4e-22	PFAM
AAA	538	721	2.01e-7	SMART
Pfam:ABC2_membrane_3	899	1288	1.1e-27	PFAM
low complexity region	1326	1337	N/A	INTRINSIC
low complexity region	1343	1354	N/A	INTRINSIC
AAA	1379	1564	4.23e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208467

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (95/96)

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,091,858		probably benign	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
A2m	A	G	6: 121,638,416	D83G	probably benign	Het
Adam6b	C	A	12: 113,490,580	P339H	possibly damaging	Het
Adgrb2	A	T	4: 130,022,202	H1505L	possibly damaging	Het
Aktip	A	T	8: 91,126,724	F122I	probably damaging	Het
Ankrd27	T	A	7: 35,615,926	L500*	probably null	Het
Blm	T	C	7: 80,458,936	E55G	possibly damaging	Het
Carmil1	A	T	13: 24,025,946		probably null	Het
Cdca7	T	C	2: 72,484,698	C311R	probably damaging	Het
Cds1	T	C	5: 101,798,495	S187P	probably damaging	Het
Chuk	A	T	19: 44,078,955	V587E	probably damaging	Het
Commd10	T	C	18: 46,960,430	V19A	probably damaging	Het
Ctnnd2	C	T	15: 30,332,115	T48I	probably damaging	Het
Cyp2b10	T	A	7: 25,913,989	Y203*	probably null	Het
Dchs1	A	T	7: 105,754,602	V2911E	probably damaging	Het
Dnah12	G	A	14: 26,773,830	E1472K	probably damaging	Het
Dnah3	T	C	7: 119,943,648	T3514A	probably benign	Het
Dnah6	T	A	6: 73,074,590	I3074F	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Fam131c	A	T	4: 141,382,830	T180S	probably benign	Het
Fbxo41	T	C	6: 85,479,906	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,763,546		noncoding transcript	Het
Gm10313	T	A	8: 46,255,453		noncoding transcript	Het
Gm5414	C	A	15: 101,624,664	V443F	probably damaging	Het
Gm7334	T	C	17: 50,699,132	S149P	possibly damaging	Het
Grik2	G	A	10: 49,132,771	T740M	probably damaging	Het
Hdac5	T	C	11: 102,197,354	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377	T211A	probably benign	Het
Herc4	G	T	10: 63,307,799	E703*	probably null	Het
Hivep2	A	G	10: 14,131,420	K1254R	probably damaging	Het
Hras	T	C	7: 141,192,940	M1V	probably null	Het
Ikbkap	T	C	4: 56,800,001	T42A	probably benign	Het
Il23r	T	G	6: 67,423,495	Q617P	probably damaging	Het
Kank1	A	G	19: 25,411,329	T789A	probably damaging	Het
Kcnj12	A	G	11: 61,070,186	K437E	probably benign	Het
Lct	A	T	1: 128,298,529	D1374E	probably benign	Het
Luc7l	C	A	17: 26,275,733	C104*	probably null	Het
Lurap1	G	A	4: 116,144,404	L31F	probably damaging	Het
Mark4	G	A	7: 19,436,983	P321S	probably damaging	Het
Med18	A	G	4: 132,463,066		probably benign	Het
Mia2	A	G	12: 59,095,812	S5G	probably benign	Het
Mrgprb3	T	C	7: 48,642,934	T290A	possibly damaging	Het
Negr1	A	T	3: 157,069,276	K210*	probably null	Het
Nktr	T	C	9: 121,752,768		probably benign	Het
Nob1	T	G	8: 107,416,249	T267P	probably damaging	Het
Nos3	A	G	5: 24,369,904	E307G	probably damaging	Het
Nrxn2	A	G	19: 6,490,081	T796A	probably damaging	Het
Nwd2	C	A	5: 63,806,516	L1148I	probably benign	Het
Pcdh17	T	A	14: 84,533,046	V988E	probably damaging	Het
Pcdha4	G	A	18: 36,954,702	R646H	probably benign	Het
Per3	G	T	4: 151,041,302	L187I	probably damaging	Het
Phlpp2	A	G	8: 109,934,035	D774G	probably damaging	Het
Pibf1	T	C	14: 99,140,646	Y403H	probably damaging	Het
Plcl2	G	A	17: 50,509,848	A81T	probably benign	Het
Polr2a	T	C	11: 69,747,275	N123D	probably benign	Het
Psma5	T	G	3: 108,268,070	V146G	possibly damaging	Het
Ptprk	A	T	10: 28,587,080	D189V	probably damaging	Het
Relb	C	T	7: 19,606,705	G509S	possibly damaging	Het
Rgs11	A	T	17: 26,202,973	M1L	probably benign	Het
Rhbg	T	A	3: 88,245,468	T313S	probably benign	Het
Ripply2	T	A	9: 87,015,638		probably benign	Het
Scap	T	C	9: 110,381,633	V1011A	probably benign	Het
Scarf1	G	A	11: 75,515,580	G230D	probably damaging	Het
Sel1l3	A	T	5: 53,186,009	Y314N	possibly damaging	Het
Slc17a8	A	G	10: 89,589,494		probably null	Het
Slc22a14	A	T	9: 119,230,596	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,879,455	I406T	probably benign	Het
Slc30a6	A	G	17: 74,423,195	D355G	probably benign	Het
Snta1	C	A	2: 154,378,020	E403*	probably null	Het
Socs7	A	G	11: 97,378,026	D382G	possibly damaging	Het
Spata31d1a	A	T	13: 59,700,403	C1304S	possibly damaging	Het
Srebf2	T	A	15: 82,196,208	I834N	possibly damaging	Het
Steap1	G	T	5: 5,740,422	H175Q	probably damaging	Het
Sult2a8	T	C	7: 14,413,754	E204G	possibly damaging	Het
Tacc2	T	C	7: 130,733,528	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,146,313	A263V	probably benign	Het
Tecta	A	C	9: 42,337,856	D1903E	probably damaging	Het
Tmem222	A	C	4: 133,277,624	M34R	possibly damaging	Het
Tnik	A	G	3: 28,542,018	T187A	probably damaging	Het
Trpv4	A	G	5: 114,635,543	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,660,332	R358C	probably benign	Het
Ttll13	T	C	7: 80,260,509	V800A	probably benign	Het
Ush2a	G	A	1: 188,728,381	G2613E	probably benign	Het
Vmn2r58	G	A	7: 41,863,960	Q420*	probably null	Het
Zranb3	G	A	1: 127,959,720	P990L	probably damaging	Het
Zswim9	T	A	7: 13,259,985	D748V	probably damaging	Het

Other mutations in Abca16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Abca16	APN	7	120423759	missense	probably benign	0.08
IGL00590:Abca16	APN	7	120423815	missense	probably damaging	1.00
IGL01320:Abca16	APN	7	120439199	missense	probably damaging	1.00
IGL01322:Abca16	APN	7	120439199	missense	probably damaging	1.00
IGL01613:Abca16	APN	7	120541277	missense	probably benign	0.03
IGL01774:Abca16	APN	7	120477835	missense	probably damaging	1.00
IGL01774:Abca16	APN	7	120421801	splice site	probably benign
IGL01797:Abca16	APN	7	120514537	missense	probably benign	0.15
IGL02406:Abca16	APN	7	120540602	missense	probably damaging	1.00
IGL02437:Abca16	APN	7	120533729	missense	probably benign	0.00
IGL02541:Abca16	APN	7	120514658	missense	possibly damaging	0.91
IGL02576:Abca16	APN	7	120433455	missense	probably benign	0.05
IGL02578:Abca16	APN	7	120423956	critical splice donor site	probably null
IGL03156:Abca16	APN	7	120423851	missense	possibly damaging	0.69
IGL03381:Abca16	APN	7	120527818	missense	probably benign	0.12
PIT4802001:Abca16	UTSW	7	120540128	missense	probably benign	0.31
R0024:Abca16	UTSW	7	120433385	missense	probably damaging	1.00
R0026:Abca16	UTSW	7	120477923	splice site	probably benign
R0026:Abca16	UTSW	7	120477923	splice site	probably benign
R0123:Abca16	UTSW	7	120540155	missense	probably damaging	1.00
R0134:Abca16	UTSW	7	120540155	missense	probably damaging	1.00
R0225:Abca16	UTSW	7	120540155	missense	probably damaging	1.00
R0346:Abca16	UTSW	7	120435932	missense	probably damaging	1.00
R0355:Abca16	UTSW	7	120423798	missense	possibly damaging	0.68
R0358:Abca16	UTSW	7	120544716	missense	probably benign	0.01
R0525:Abca16	UTSW	7	120465810	nonsense	probably null
R0617:Abca16	UTSW	7	120433611	splice site	probably benign
R0625:Abca16	UTSW	7	120435893	missense	probably damaging	1.00
R0835:Abca16	UTSW	7	120465784	missense	probably benign	0.42
R1445:Abca16	UTSW	7	120520033	missense	probably benign	0.41
R1535:Abca16	UTSW	7	120540705	missense	probably benign	0.30
R1567:Abca16	UTSW	7	120431129	missense	probably benign	0.08
R1694:Abca16	UTSW	7	120520084	missense	probably damaging	1.00
R1860:Abca16	UTSW	7	120534763	missense	probably benign	0.02
R1876:Abca16	UTSW	7	120433385	missense	probably damaging	1.00
R1913:Abca16	UTSW	7	120541240	missense	probably benign	0.04
R1940:Abca16	UTSW	7	120433609	splice site	probably benign
R2042:Abca16	UTSW	7	120544718	missense	probably benign
R2115:Abca16	UTSW	7	120540645	missense	probably damaging	1.00
R2122:Abca16	UTSW	7	120519961	missense	probably damaging	1.00
R2265:Abca16	UTSW	7	120431160	missense	probably benign	0.03
R2267:Abca16	UTSW	7	120431160	missense	probably benign	0.03
R2269:Abca16	UTSW	7	120431160	missense	probably benign	0.03
R2993:Abca16	UTSW	7	120535161	missense	probably damaging	1.00
R3055:Abca16	UTSW	7	120435851	missense	probably benign	0.05
R3956:Abca16	UTSW	7	120527752	missense	probably damaging	0.96
R4114:Abca16	UTSW	7	120527067	missense	probably benign	0.06
R4441:Abca16	UTSW	7	120527801	missense	probably benign	0.04
R4601:Abca16	UTSW	7	120436697	missense	probably damaging	0.98
R4706:Abca16	UTSW	7	120465765	missense	probably damaging	1.00
R4807:Abca16	UTSW	7	120540609	missense	probably damaging	1.00
R4824:Abca16	UTSW	7	120475479	missense	possibly damaging	0.86
R4937:Abca16	UTSW	7	120527086	missense	probably damaging	0.98
R5152:Abca16	UTSW	7	120540623	missense	probably benign	0.02
R5257:Abca16	UTSW	7	120436769	critical splice donor site	probably null
R5258:Abca16	UTSW	7	120436769	critical splice donor site	probably null
R5388:Abca16	UTSW	7	120540746	critical splice donor site	probably null
R5590:Abca16	UTSW	7	120544772	missense	probably damaging	0.98
R5810:Abca16	UTSW	7	120435932	missense	probably damaging	1.00
R6030:Abca16	UTSW	7	120533798	missense	probably benign
R6030:Abca16	UTSW	7	120533798	missense	probably benign
R6161:Abca16	UTSW	7	120540711	missense	probably damaging	1.00
R6313:Abca16	UTSW	7	120527121	missense	probably damaging	1.00
R6485:Abca16	UTSW	7	120427167	nonsense	probably null
R6527:Abca16	UTSW	7	120477772	missense	possibly damaging	0.95
R6772:Abca16	UTSW	7	120527053	missense	probably damaging	1.00
R6885:Abca16	UTSW	7	120520109	missense	probably benign	0.07
R6899:Abca16	UTSW	7	120527041	missense	probably damaging	1.00
R6941:Abca16	UTSW	7	120541147	missense	probably damaging	1.00
R6990:Abca16	UTSW	7	120527727	missense	probably benign	0.00
R7059:Abca16	UTSW	7	120421748	missense	probably benign	0.00
R7144:Abca16	UTSW	7	120433573	missense	possibly damaging	0.89
R7146:Abca16	UTSW	7	120527751	missense	possibly damaging	0.46
R7193:Abca16	UTSW	7	120427186	missense	probably damaging	1.00
R7308:Abca16	UTSW	7	120423770	missense	probably benign	0.01
R7449:Abca16	UTSW	7	120435908	missense	possibly damaging	0.95
R7571:Abca16	UTSW	7	120519988	missense	probably benign	0.11
R7617:Abca16	UTSW	7	120503471	nonsense	probably null
R7646:Abca16	UTSW	7	120514714	missense	probably benign	0.04
R7750:Abca16	UTSW	7	120514705	missense	probably benign	0.09
R7763:Abca16	UTSW	7	120514602	missense	probably damaging	1.00
R7840:Abca16	UTSW	7	120475466	missense	probably benign	0.00
R7946:Abca16	UTSW	7	120527175	missense	probably benign	0.01
R8018:Abca16	UTSW	7	120533643	missense	probably benign	0.04
R8170:Abca16	UTSW	7	120465782	missense	probably damaging	1.00
R8413:Abca16	UTSW	7	120423900	missense	probably benign	0.06
R8461:Abca16	UTSW	7	120436695	missense	possibly damaging	0.95
R8858:Abca16	UTSW	7	120453104	missense	probably benign
R8881:Abca16	UTSW	7	120475571	missense	probably benign	0.18
R9272:Abca16	UTSW	7	120477770	missense	probably benign	0.13
R9303:Abca16	UTSW	7	120527766	missense	probably benign	0.25
R9305:Abca16	UTSW	7	120527766	missense	probably benign	0.25
R9320:Abca16	UTSW	7	120540097	missense	probably damaging	0.98
R9413:Abca16	UTSW	7	120527199	missense	probably benign	0.01
R9512:Abca16	UTSW	7	120423740	missense	probably benign	0.01
R9559:Abca16	UTSW	7	120421796	critical splice donor site	probably null
R9615:Abca16	UTSW	7	120527181	missense	probably benign	0.01
R9641:Abca16	UTSW	7	120527085	missense	possibly damaging	0.52
R9643:Abca16	UTSW	7	120465800	missense	possibly damaging	0.96
R9674:Abca16	UTSW	7	120475445	critical splice acceptor site	probably null
R9714:Abca16	UTSW	7	120431160	missense	probably benign	0.01
R9799:Abca16	UTSW	7	120533775	missense	probably benign	0.00
R9800:Abca16	UTSW	7	120520060	missense	possibly damaging	0.68
RF020:Abca16	UTSW	7	120533657	missense	possibly damaging	0.90
X0066:Abca16	UTSW	7	120503386	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAAGCAAAGTAATTTCAGACCATG -3'
(R):5'- TCAATTTGACAGTAGGATGGGAC -3'

Sequencing Primer
(F):5'- GCAAAGTAATTTCAGACCATGATCAG -3'
(R):5'- GAGAACTTGTGAGGGGCTAG -3'

Posted On

2016-08-04