Mutagenetix > Incidental Mutation

Incidental Mutation 'R1694:Abca16'

192019

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

039727-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120520084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1017 (H1017R)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000056042
AA Change: H1016R

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: H1016R

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: H1017R

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

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: H1017R

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	C	10: 120,778,628		probably benign	Het
4930447C04Rik	C	T	12: 72,885,218		probably null	Het
Actl11	A	G	9: 107,930,008	Y510C	probably damaging	Het
Agbl2	A	G	2: 90,801,320	T341A	probably damaging	Het
Agbl5	A	G	5: 30,893,382	Y458C	probably damaging	Het
Akap5	C	T	12: 76,329,924	S710L	probably damaging	Het
Akr1c21	A	G	13: 4,575,178	E36G	probably damaging	Het
Arhgap44	A	G	11: 65,053,197	S163P	probably damaging	Het
Armc1	A	G	3: 19,134,886	V205A	possibly damaging	Het
Asph	A	G	4: 9,610,869	L102P	probably damaging	Het
Brca1	T	C	11: 101,532,099	E74G	probably damaging	Het
Brms1l	A	G	12: 55,841,600	R58G	probably damaging	Het
C1qbp	G	T	11: 70,978,247		probably null	Het
Calcrl	A	T	2: 84,339,287	L350H	probably damaging	Het
Casr	A	T	16: 36,495,591	F706I	probably damaging	Het
Ceacam10	T	A	7: 24,781,066	N87K	probably benign	Het
Cfap206	G	T	4: 34,719,058	T316K	probably damaging	Het
Col4a3	A	T	1: 82,690,663		probably null	Het
Comtd1	A	G	14: 21,847,330	V183A	probably damaging	Het
Crygs	A	T	16: 22,806,675		probably null	Het
Dact1	C	A	12: 71,312,777	T139K	probably damaging	Het
Dlx6	T	C	6: 6,867,173	W259R	probably damaging	Het
Dnah9	G	T	11: 65,954,824	S627*	probably null	Het
Dnajc11	T	A	4: 151,979,273	V442D	probably damaging	Het
Dnajc21	A	T	15: 10,451,563	S393T	probably benign	Het
Dpysl3	C	A	18: 43,328,374	C584F	possibly damaging	Het
Efcab14	A	G	4: 115,746,539	K138R	possibly damaging	Het
Ephb3	A	G	16: 21,221,745	E577G	probably damaging	Het
Exoc3	C	T	13: 74,190,065		probably null	Het
Fam171a1	A	G	2: 3,225,623	S473G	probably benign	Het
Fbxl2	A	T	9: 114,003,171	F58L	probably damaging	Het
Fmo6	T	C	1: 162,922,672	M272V	probably benign	Het
Gm1000	T	C	12: 104,476,600		probably benign	Het
Gm765	A	C	6: 98,238,139	S174R	probably damaging	Het
Grik1	T	A	16: 87,950,068	D442V	probably damaging	Het
Hectd1	A	G	12: 51,744,592	Y2588H	probably damaging	Het
Insrr	A	C	3: 87,804,062	T430P	probably benign	Het
Lats1	T	C	10: 7,701,945	S278P	probably benign	Het
Lrch4	A	G	5: 137,638,461	T463A	probably benign	Het
Ltbp1	A	G	17: 75,225,285	Q118R	possibly damaging	Het
Lyst	T	G	13: 13,661,161	F1809L	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,844	Y85H	possibly damaging	Het
Magoh	G	T	4: 107,883,165	R82L	probably benign	Het
Mlh1	A	G	9: 111,228,475	V756A	probably damaging	Het
Mlh3	T	C	12: 85,267,141	E757G	probably damaging	Het
Mycbp2	T	C	14: 103,227,511	T1339A	probably damaging	Het
Myh7b	A	T	2: 155,613,193	E46V	probably damaging	Het
Naalad2	T	A	9: 18,327,387	R677S	probably damaging	Het
Nadsyn1	G	A	7: 143,808,012	T324I	probably benign	Het
Neo1	A	T	9: 58,880,603	L1389Q	probably damaging	Het
Nlrp1b	A	G	11: 71,216,855		probably null	Het
Nup210	A	C	6: 91,062,803	I690S	probably benign	Het
Olfr235	T	A	19: 12,268,917	I229N	probably damaging	Het
Olfr543	A	T	7: 102,477,340	S177T	probably benign	Het
Olfr824	T	A	10: 130,126,254	I268F	possibly damaging	Het
Otud7a	C	A	7: 63,733,710	H316N	probably damaging	Het
Pcdh15	T	C	10: 74,594,163	S1241P	probably damaging	Het
Pclo	A	G	5: 14,520,963	K121E	probably damaging	Het
Pcmtd1	A	T	1: 7,147,648	I107L	probably benign	Het
Pde6c	A	G	19: 38,180,225	I755V	probably damaging	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,977,719		probably benign	Het
Pi4ka	A	T	16: 17,295,376	I1532N	probably damaging	Het
Pla2r1	A	G	2: 60,441,084		probably null	Het
Plb1	A	G	5: 32,317,277	N661S	probably null	Het
Plekhd1	A	G	12: 80,722,321	K452E	possibly damaging	Het
Prr12	C	A	7: 45,028,579	V2003F	unknown	Het
Ptger1	G	A	8: 83,668,478	G195R	probably benign	Het
Ptpn4	T	C	1: 119,783,510	Q67R	probably damaging	Het
Rgsl1	C	T	1: 153,804,676	R760H	probably damaging	Het
Rock1	A	G	18: 10,136,094		probably null	Het
Rtn1	T	C	12: 72,223,524	Y71C	probably damaging	Het
Rtp4	T	C	16: 23,613,120	*62Q	probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,229,857		probably benign	Het
Scimp	G	T	11: 70,793,792	P78H	probably damaging	Het
Scn8a	C	A	15: 100,955,528	S132*	probably null	Het
Set	A	G	2: 30,069,424	I124M	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Sgce	A	G	6: 4,689,709	S375P	probably damaging	Het
Slc4a1ap	G	C	5: 31,543,754	E600Q	probably damaging	Het
Slit1	A	G	19: 41,637,592	V577A	possibly damaging	Het
Sqstm1	A	G	11: 50,207,480	V153A	probably benign	Het
Src	A	G	2: 157,469,755	M468V	possibly damaging	Het
Srrm3	A	G	5: 135,873,225		probably benign	Het
Stk11ip	C	T	1: 75,527,386	R257W	probably damaging	Het
Tfrc	T	A	16: 32,614,625	D32E	probably damaging	Het
Tor1aip2	A	T	1: 156,065,285	I446L	probably benign	Het
Trmt11	T	C	10: 30,535,225	H424R	probably benign	Het
Urb1	A	G	16: 90,767,040	Y1612H	probably benign	Het
Vcan	A	T	13: 89,688,483	S2981T	probably damaging	Het
Vdac1	G	C	11: 52,374,363	G21A	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148	S315P	probably benign	Het
Xpo1	A	G	11: 23,281,399	T328A	probably benign	Het
Xrcc5	C	T	1: 72,319,096	L197F	possibly damaging	Het
Zfhx2	G	C	14: 55,073,944	S431C	possibly damaging	Het
Zfp410	C	T	12: 84,325,720	P54S	probably benign	Het
Zfp560	C	A	9: 20,347,986	G527*	probably null	Het
Zfp775	A	G	6: 48,619,455	T88A	possibly damaging	Het
Zfp780b	T	A	7: 27,964,383	H249L	possibly 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
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'- ACATGTTGGCTCACTGGCATTTTCT -3'
(R):5'- TCTGGATACTAAAGGACCCGACCAC -3'

Sequencing Primer
(F):5'- GCTCACTGGCATTTTCTTTTTTATTC -3'
(R):5'- GCTAAACACTGTACTATTTGCAATCC -3'

Posted On

2014-05-14