Mutagenetix > Incidental Mutation

Incidental Mutation 'R1567:Abca16'

175348

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

039606-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120431129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 155 (V155I)

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: V155I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: V155I

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: V155I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: V155I

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: ENSMUST00000144122

SMART Domains

Protein: ENSMUSP00000114975
Gene: ENSMUSG00000051900

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	2	133	1e-16	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,914	Q255R	possibly damaging	Het
Adar	A	T	3: 89,735,781	H323L	probably benign	Het
Adgrg5	T	A	8: 94,937,698	V312E	probably damaging	Het
Anapc1	T	C	2: 128,617,716	T1808A	probably damaging	Het
Aox3	C	A	1: 58,194,693	A1285E	probably damaging	Het
Arhgap40	T	A	2: 158,546,799	L551Q	probably damaging	Het
Blk	A	G	14: 63,380,729	S243P	probably damaging	Het
Cfap206	G	T	4: 34,716,490	A325E	probably benign	Het
Cnn3	A	T	3: 121,449,958	K23*	probably null	Het
Cog8	G	A	8: 107,054,108	R173*	probably null	Het
Col11a1	G	A	3: 114,138,612	R880H	unknown	Het
Cyp2c40	T	C	19: 39,803,771	Q243R	probably null	Het
D11Wsu47e	T	A	11: 113,687,902	V41D	probably damaging	Het
Dcbld1	A	G	10: 52,319,656	E391G	probably damaging	Het
Dchs1	C	A	7: 105,771,861	A451S	probably benign	Het
Ddx43	A	G	9: 78,416,709	K441E	probably damaging	Het
Depdc1a	A	T	3: 159,522,540	I310F	possibly damaging	Het
Dnah17	C	T	11: 118,125,985	V247M	probably damaging	Het
Dtd1	G	T	2: 144,747,025	G201V	probably damaging	Het
Enoph1	G	A	5: 100,061,025	G80S	probably benign	Het
Fam76a	A	T	4: 132,917,728	Y48*	probably null	Het
Fut9	T	G	4: 25,620,344	T157P	probably damaging	Het
Gm2016	A	T	12: 87,876,984	I134F	unknown	Het
Gtpbp1	T	C	15: 79,712,190	I310T	probably damaging	Het
Hk3	T	A	13: 55,006,605	I753F	probably damaging	Het
Hnrnpl	G	T	7: 28,820,183	A419S	possibly damaging	Het
Ighv5-6	T	C	12: 113,625,908		probably benign	Het
Itpkb	A	G	1: 180,421,858	T933A	probably benign	Het
Kcnn2	T	G	18: 45,670,334		probably null	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Lmcd1	C	T	6: 112,310,565	R71C	probably damaging	Het
Mrgprb1	A	T	7: 48,447,453	V237E	probably damaging	Het
Mybl1	T	A	1: 9,685,751	E191V	probably damaging	Het
Nbas	T	A	12: 13,285,278	F158I	possibly damaging	Het
Nbr1	C	G	11: 101,575,211	L748V	probably damaging	Het
Nlrp10	G	A	7: 108,927,050	T27M	probably benign	Het
Notch3	G	A	17: 32,158,580	T174I	possibly damaging	Het
Nup85	T	A	11: 115,568,398	I109K	possibly damaging	Het
Odf3b	C	A	15: 89,377,778	R137L	probably benign	Het
Olfr1255	T	C	2: 89,817,184	L280P	probably damaging	Het
Olfr1298	G	T	2: 111,645,926	Q24K	possibly damaging	Het
Olfr1367	A	T	13: 21,347,425	I166L	probably benign	Het
Olfr138	A	G	17: 38,275,568	I266V	possibly damaging	Het
Olfr1458	T	C	19: 13,102,642	T221A	probably benign	Het
Olfr63	A	G	17: 33,269,476	I251V	probably benign	Het
Phf2	T	C	13: 48,832,113	K64E	unknown	Het
Polr2a	T	C	11: 69,746,031	T365A	probably benign	Het
Prkcd	A	G	14: 30,607,448	C12R	probably benign	Het
Ptprq	T	C	10: 107,565,887	I1915V	probably benign	Het
Rcbtb2	G	A	14: 73,162,462	V112I	probably benign	Het
Rxfp3	A	G	15: 11,036,101	V395A	probably benign	Het
Ryr2	C	A	13: 11,759,677	G1198C	possibly damaging	Het
Scn1a	T	A	2: 66,273,331	I1851F	probably damaging	Het
Selenop	A	G	15: 3,279,698	*377W	probably null	Het
Sema4a	A	T	3: 88,452,046	C113S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Speg	T	C	1: 75,428,047	S2575P	probably benign	Het
Stk24	T	A	14: 121,308,056	I97L	probably benign	Het
Tap2	A	G	17: 34,214,091	K449R	probably benign	Het
Tecpr2	T	A	12: 110,941,596		probably null	Het
Ttn	T	A	2: 76,897,611		probably benign	Het
Uggt2	A	G	14: 119,009,093	F1204L	possibly damaging	Het
Ugt2b36	T	C	5: 87,092,399	I42M	probably damaging	Het
Zdhhc8	A	G	16: 18,227,120	L274P	probably benign	Het
Zfp974	C	A	7: 27,910,723	D526Y	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
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'- TGCTCACTGTGCATTCTAGGCATTC -3'
(R):5'- AATAAAGACTCTCCTGTGCTTGCCC -3'

Sequencing Primer
(F):5'- AGGCATTCAGAATTTATCAGATTGG -3'
(R):5'- GTCTCGAAATCCGGGCATAAC -3'

Posted On

2014-04-24