Mutagenetix > Incidental Mutation

Incidental Mutation 'R2122:Abca16'

229581

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

040126-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120519961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 975 (G975V)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000056042
AA Change: G975V

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: G975V

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 damaging
Transcript: ENSMUST00000120490
AA Change: G976V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: G976V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Actl10	G	A	2: 154,552,233	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Arhgef7	A	T	8: 11,728,256	N2I	possibly damaging	Het
Blvra	T	G	2: 127,086,897	S102A	probably damaging	Het
Btn1a1	A	G	13: 23,461,521	L226P	probably damaging	Het
C2cd4d	G	T	3: 94,363,618	E64*	probably null	Het
Ccna2	A	G	3: 36,568,726	V209A	probably damaging	Het
Cd55	T	A	1: 130,459,617	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,774,543	P46L	probably benign	Het
Cldn11	A	G	3: 31,163,151	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 104,293,023	R12G	possibly damaging	Het
Cog2	T	C	8: 124,528,985	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,654,957	F184V	unknown	Het
Col4a4	T	A	1: 82,456,871	D1406V	unknown	Het
Col6a1	T	C	10: 76,721,498	T207A	probably benign	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dcdc2a	T	G	13: 25,119,285	S266R	possibly damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,455,793	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,897,792	Y44*	probably null	Het
Ep400	A	T	5: 110,708,850		probably benign	Het
Exoc6b	A	G	6: 84,621,482	M779T	probably benign	Het
F13a1	T	A	13: 37,025,679	Y104F	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,389	D186G	probably benign	Het
Gm5773	G	A	3: 93,773,317	G99R	possibly damaging	Het
Grk1	A	T	8: 13,405,221	Y35F	probably benign	Het
Heatr1	T	C	13: 12,403,264	V359A	probably benign	Het
Hfm1	A	G	5: 106,896,255	S567P	probably damaging	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Kctd5	T	C	17: 24,055,966	T212A	probably benign	Het
Krtap5-5	A	T	7: 142,229,503	C137S	unknown	Het
Lrp2	T	C	2: 69,483,707	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Map1a	T	A	2: 121,299,446	Y248N	probably damaging	Het
Mdc1	C	T	17: 35,847,943	A405V	probably benign	Het
Mfsd4b1	T	C	10: 40,002,651	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Myh11	T	C	16: 14,218,004	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,412,405	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791	K254R	probably damaging	Het
Obsl1	C	T	1: 75,493,883	R1043H	probably benign	Het
Olfr17	A	T	7: 107,098,109	I215F	probably damaging	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Phldb2	T	A	16: 45,762,941	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,875	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Pum1	C	A	4: 130,669,270	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reg3a	T	C	6: 78,381,136	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,713,718	S800G	probably damaging	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
Rnf31	A	G	14: 55,596,197	D554G	probably damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sacs	A	T	14: 61,212,316	Q3937L	probably damaging	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,199,819	I34S	possibly damaging	Het
Slc25a30	A	G	14: 75,770,218	S116P	possibly damaging	Het
Speer4c	T	A	5: 15,714,117	D29V	possibly damaging	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Susd3	A	G	13: 49,231,150	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,895,949	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tfpt	C	T	7: 3,628,931	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Tnfsf9	A	T	17: 57,107,316		probably null	Het
Ube3c	T	C	5: 29,619,606	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,201,013	S126Y	possibly damaging	Het
Vmn1r180	T	A	7: 23,953,141	L243Q	probably damaging	Het
Vmn2r15	A	C	5: 109,286,456	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,815,394	D560G	possibly damaging	Het
Wdr11	G	A	7: 129,631,766	C1028Y	probably damaging	Het
Zfp318	A	G	17: 46,413,371	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,519,483	Y789*	probably null	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
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
R5330:Abca16	UTSW	7	120503377	missense	probably benign	0.15
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'- CATGGCTGAAACAGGACCTC -3'
(R):5'- CATCAGGGCCAGAAAGTGTC -3'

Sequencing Primer
(F):5'- ATTCCAGCACTTGGGGAATC -3'
(R):5'- TCAGGGCCAGAAAGTGTCATAAAAAG -3'

Posted On

2014-09-17