Mutagenetix > Incidental Mutation

Incidental Mutation 'R1445:Abca16'

158789

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

039500-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1445 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120520033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 999 (V999A)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000056042
AA Change: V999A

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: V999A

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: V1000A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: V1000A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 84.0%

Validation Efficiency

96% (101/105)

Allele List at MGI

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

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	G	T	3: 117,067,736		noncoding transcript	Het
2300003K06Rik	G	T	11: 99,837,967	Q17K	probably benign	Het
Actn3	C	T	19: 4,865,455		probably benign	Het
Agap2	T	A	10: 127,091,112		probably benign	Het
Ago3	C	A	4: 126,371,787	R278L	probably benign	Het
Aldh1a2	T	C	9: 71,285,210	V449A	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Aplnr	A	G	2: 85,137,009	Y126C	probably damaging	Het
Apob	T	C	12: 8,016,084	I4351T	possibly damaging	Het
Ash1l	T	C	3: 89,007,352	L1763P	probably benign	Het
Aspn	T	C	13: 49,557,373	S165P	possibly damaging	Het
Atg13	A	T	2: 91,679,990	V349E	probably damaging	Het
Atp1b2	T	A	11: 69,602,483		probably null	Het
B3glct	A	T	5: 149,754,139	D411V	probably damaging	Het
Bcar3	A	T	3: 122,523,191	I255F	probably damaging	Het
Cacna1b	G	A	2: 24,718,136		probably benign	Het
Cep164	T	G	9: 45,778,900	E675A	possibly damaging	Het
Chd1l	C	T	3: 97,582,731	E503K	probably benign	Het
Chst8	C	A	7: 34,748,168	M8I	possibly damaging	Het
Clec4n	A	G	6: 123,235,516	E67G	probably benign	Het
Cobll1	A	T	2: 65,099,136	D653E	probably damaging	Het
Col9a1	T	C	1: 24,237,498		probably null	Het
Crip2	T	C	12: 113,143,504	L30P	probably damaging	Het
Ctbp1	C	T	5: 33,261,063	V22I	probably benign	Het
Cwc22	T	C	2: 77,917,177		probably benign	Het
Cyp4a32	C	A	4: 115,602,950	Y119*	probably null	Het
Dido1	G	T	2: 180,671,470	A463E	possibly damaging	Het
Dnah7a	G	A	1: 53,528,797	P1880L	probably benign	Het
Dock2	T	A	11: 34,239,705	T1489S	probably benign	Het
Dsp	A	G	13: 38,191,931	T1231A	probably damaging	Het
Eif2ak1	G	T	5: 143,873,899		probably benign	Het
Epc1	A	T	18: 6,452,360	M233K	probably damaging	Het
Fam189a2	G	A	19: 24,021,634	T140M	probably damaging	Het
Gigyf2	A	G	1: 87,443,638		probably benign	Het
Greb1	T	G	12: 16,707,851	H58P	probably damaging	Het
Gtpbp1	T	C	15: 79,713,448	I348T	possibly damaging	Het
Hck	A	T	2: 153,128,272	N64Y	probably benign	Het
Herc2	T	C	7: 56,168,996	S2812P	probably damaging	Het
Inpp4b	T	A	8: 81,952,834		probably null	Het
Kcnq5	A	C	1: 21,405,024	S473A	probably benign	Het
Lrat	T	G	3: 82,903,369	D115A	probably damaging	Het
Lyst	A	G	13: 13,640,054	I1131M	possibly damaging	Het
Man2a2	T	C	7: 80,368,562	D160G	probably benign	Het
Marf1	C	T	16: 14,115,824	D1567N	probably benign	Het
Mars	T	C	10: 127,297,988	D680G	possibly damaging	Het
Mat1a	T	C	14: 41,121,840	S339P	probably damaging	Het
Megf8	T	C	7: 25,342,656	S1300P	probably damaging	Het
Mga	T	C	2: 119,902,698	L9S	probably damaging	Het
Mllt6	T	C	11: 97,672,451		probably benign	Het
Mrpl37	A	G	4: 107,064,495	L179P	probably benign	Het
Mtnr1a	G	T	8: 45,087,745	V248L	probably benign	Het
Mylk	T	C	16: 34,815,465	S19P	possibly damaging	Het
Olfr738	A	G	14: 50,414,401	T286A	probably damaging	Het
Parp8	A	T	13: 117,025,350		probably null	Het
Pcnx2	T	C	8: 125,752,284	D2075G	probably damaging	Het
Pigo	A	T	4: 43,021,460	I494K	probably benign	Het
Pkd1l1	A	T	11: 8,870,313	D1217E	probably benign	Het
Pkhd1l1	T	C	15: 44,505,644	V895A	probably benign	Het
Plcb4	A	T	2: 136,000,189	H1031L	possibly damaging	Het
Plxnb1	A	G	9: 109,108,921	K1245R	probably null	Het
Pold1	C	T	7: 44,542,757		probably benign	Het
Ptprq	T	C	10: 107,662,562	I885V	probably damaging	Het
Ptprz1	A	G	6: 23,050,474	D1398G	probably damaging	Het
Pygm	G	A	19: 6,389,887	A364T	probably benign	Het
Rbl1	T	C	2: 157,193,098	N354S	probably benign	Het
Scgb2b19	C	T	7: 33,279,612		probably null	Het
Slc26a8	C	T	17: 28,648,213	V545M	possibly damaging	Het
Slc27a1	T	A	8: 71,584,113		probably null	Het
Smpd1	A	G	7: 105,556,674	D416G	possibly damaging	Het
Sorbs3	A	G	14: 70,193,646	V284A	probably benign	Het
Stfa2l1	T	C	16: 36,161,784	V75A	probably damaging	Het
Syndig1	A	G	2: 149,930,921	D166G	probably damaging	Het
Tcp10a	G	A	17: 7,326,007		probably null	Het
Themis2	T	A	4: 132,782,901	I663F	possibly damaging	Het
Thrap3	T	C	4: 126,176,336	Q586R	probably damaging	Het
Tinag	C	A	9: 77,045,516	C62F	probably damaging	Het
Tmem206	A	G	1: 191,348,362		probably benign	Het
Tmod1	T	C	4: 46,090,884	Y146H	probably damaging	Het
Tmprss4	T	A	9: 45,184,385	I54F	possibly damaging	Het
Tnks	A	C	8: 34,834,603		probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Trpc6	A	G	9: 8,680,537	E844G	probably benign	Het
Ubtd2	C	T	11: 32,516,125	R115W	probably damaging	Het
Ubxn6	T	C	17: 56,069,042	D373G	probably benign	Het
Upf1	T	A	8: 70,341,524	Q244L	probably benign	Het
Usp33	A	G	3: 152,368,634	I372M	probably damaging	Het
Usp34	A	G	11: 23,351,629	E351G	probably damaging	Het
Utrn	A	G	10: 12,678,574		probably benign	Het
Vmn1r78	A	G	7: 12,152,581	K40E	possibly damaging	Het
Vmn2r7	T	A	3: 64,724,802	M80L	probably benign	Het
Vps13a	G	T	19: 16,701,238	Y1126*	probably null	Het
Wfdc11	T	C	2: 164,664,446	N60S	probably benign	Het
Wnk2	C	T	13: 49,071,110	D992N	probably damaging	Het
Zpbp2	C	A	11: 98,553,844	T66K	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
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
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'- AAGTGGAGAAATAAACCCCACAGCTTT -3'
(R):5'- TCAGAAACTGGATGTGCTTGGCTTG -3'

Sequencing Primer
(F):5'- CCCCACAGCTTTATAAGATACATTC -3'
(R):5'- GTCTGGATACTAAAGGACCCGAC -3'

Posted On

2014-03-14