Mutagenetix > Incidental Mutation

Incidental Mutation 'R4824:Abca16'

374218

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

042440-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120475479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 580 (N580K)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056042
AA Change: N580K

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: N580K

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

possibly damaging
Transcript: ENSMUST00000120490
AA Change: N581K

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: N581K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153845

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (123/126)

Allele List at MGI

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

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,676	T209A	probably benign	Het
1700086D15Rik	T	C	11: 65,152,615		probably benign	Het
4930452B06Rik	A	T	14: 8,665,997	M1K	probably null	Het
A130010J15Rik	G	A	1: 193,174,657	V106I	probably benign	Het
Actrt2	A	T	4: 154,666,887	F264Y	probably damaging	Het
Adh4	G	A	3: 138,429,046	S327N	possibly damaging	Het
Alkbh5	T	C	11: 60,553,871		probably null	Het
Anapc1	T	A	2: 128,628,690	T1507S	possibly damaging	Het
Anapc2	A	G	2: 25,277,752	R444G	probably damaging	Het
Apoh	G	T	11: 108,414,261	W335L	probably benign	Het
B4galt7	A	T	13: 55,604,349	H71L	possibly damaging	Het
Bicd2	A	G	13: 49,379,012	E358G	probably damaging	Het
Bmper	T	A	9: 23,223,660	V7D	possibly damaging	Het
Brca2	T	C	5: 150,539,735	F988S	probably damaging	Het
Brix1	A	G	15: 10,485,742	V49A	possibly damaging	Het
Brpf3	T	C	17: 28,806,486	S178P	probably benign	Het
Btaf1	A	G	19: 36,981,048	Y655C	possibly damaging	Het
C1rl	C	G	6: 124,509,081	Y470*	probably null	Het
Cacnb4	A	G	2: 52,675,810	V21A	probably benign	Het
Caskin1	C	A	17: 24,501,129	P437T	probably benign	Het
Casz1	C	A	4: 148,944,571	P1158T	probably damaging	Het
Ccdc141	T	A	2: 77,124,336	Q189L	probably damaging	Het
Ccr3	T	C	9: 124,028,772	V48A	probably damaging	Het
Cebpd	G	A	16: 15,888,114	G264S	probably benign	Het
Chd1	C	A	17: 15,733,124	S440R	probably damaging	Het
Clip1	T	A	5: 123,631,023	E504D	probably damaging	Het
Cmya5	T	C	13: 93,093,574	R1669G	probably benign	Het
Col11a2	T	A	17: 34,050,963	F456I	probably damaging	Het
Col4a3bp	C	T	13: 96,616,487	P350S	probably benign	Het
Ctnna2	A	T	6: 76,980,781	M130K	probably damaging	Het
Elmo2	A	T	2: 165,292,002		probably benign	Het
F11	T	C	8: 45,255,342	D27G	probably damaging	Het
Faap100	A	T	11: 120,375,586		probably null	Het
Fat1	A	G	8: 44,989,114	E1151G	probably damaging	Het
Fbll1	T	A	11: 35,797,825	I204F	probably damaging	Het
Gle1	T	A	2: 29,940,203	V257D	possibly damaging	Het
Hoxc9	T	A	15: 102,981,793	C47*	probably null	Het
Hsd17b6	A	G	10: 127,993,655	V226A	probably benign	Het
Hsd17b7	C	T	1: 169,961,195	R151Q	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ido2	A	G	8: 24,533,859	I321T	probably benign	Het
Irf2bp2	T	C	8: 126,591,433	T465A	probably benign	Het
Kdm2a	A	G	19: 4,362,787	M34T	probably damaging	Het
Klhl6	C	T	16: 19,957,028	R260H	probably damaging	Het
Kntc1	T	A	5: 123,790,133	L1231*	probably null	Het
Lca5l	A	C	16: 96,162,029	Y412*	probably null	Het
Lipt1	T	C	1: 37,875,432	S190P	possibly damaging	Het
Ly6f	T	A	15: 75,271,720	V92D	probably damaging	Het
Matn4	T	A	2: 164,393,231	M433L	probably benign	Het
Mbtd1	C	A	11: 93,925,702	P370T	probably benign	Het
Mcph1	T	A	8: 18,632,687		probably null	Het
Muc5b	T	A	7: 141,864,185	C3623S	probably damaging	Het
Myt1l	C	A	12: 29,849,400	H134N	probably benign	Het
Nav2	A	T	7: 49,409,001		probably benign	Het
Ndufaf8	T	C	11: 120,099,166	C35R	probably damaging	Het
Neb	G	A	2: 52,204,879	T5130I	possibly damaging	Het
Nlrp9c	T	C	7: 26,380,564	N624S	possibly damaging	Het
Nr0b2	C	A	4: 133,556,023	H190Q	probably damaging	Het
Nrg4	A	G	9: 55,249,121		probably benign	Het
Nup88	A	T	11: 70,961,624	V215E	probably benign	Het
Oas2	T	G	5: 120,738,346	T511P	probably benign	Het
Olfr1151	T	C	2: 87,857,277	V34A	probably benign	Het
Olfr1162	A	C	2: 88,050,088	F179V	probably damaging	Het
Olfr1500	A	C	19: 13,828,354	L14R	probably damaging	Het
Olfr384	A	G	11: 73,602,600	T7A	possibly damaging	Het
Olfr720	A	G	14: 14,175,885	S66P	probably damaging	Het
Olfr943	A	G	9: 39,184,205	N9S	probably benign	Het
Pcdhgb2	T	A	18: 37,690,449	N164K	probably damaging	Het
Pde4d	C	G	13: 109,116,866	P76A	probably benign	Het
Phlda1	T	C	10: 111,507,655		probably benign	Het
Plekhh1	A	G	12: 79,054,803	T216A	probably benign	Het
Plppr3	T	A	10: 79,865,673	E445V	possibly damaging	Het
Prom1	A	G	5: 44,034,390	V337A	probably damaging	Het
Prr14l	T	C	5: 32,844,399		probably benign	Het
Psmd1	A	G	1: 86,137,098	I951V	probably benign	Het
Rab35	T	G	5: 115,643,395	I85M	possibly damaging	Het
Rad9a	A	T	19: 4,200,537	S93T	probably benign	Het
Ric1	G	A	19: 29,585,842	C555Y	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Ror2	T	A	13: 53,110,683	Q791L	probably benign	Het
Rps8	G	C	4: 117,155,155		probably benign	Het
Sdr16c5	C	T	4: 4,016,216	W70*	probably null	Het
Senp3	A	G	11: 69,677,995	V408A	probably benign	Het
Sh2d4b	C	A	14: 40,840,344	W288L	probably benign	Het
Slc38a9	A	T	13: 112,723,298	D422V	probably damaging	Het
Slc4a2	T	C	5: 24,440,143	F1104L	probably damaging	Het
Slc4a3	A	G	1: 75,550,623	K113E	possibly damaging	Het
Spata3	G	A	1: 86,024,326		probably null	Het
Spata31d1d	A	T	13: 59,729,241	V160E	possibly damaging	Het
Sprr2f	A	G	3: 92,365,896	M1V	probably null	Het
Sptbn1	A	G	11: 30,118,295	V1733A	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tardbp	A	G	4: 148,617,593	I295T	probably benign	Het
Tmem212	A	G	3: 27,885,008	S110P	probably damaging	Het
Tnc	G	A	4: 64,017,620	Q360*	probably null	Het
Tnrc6c	C	A	11: 117,722,905	Q630K	probably damaging	Het
Ttc19	G	A	11: 62,309,096	R235H	probably benign	Het
Ube3b	T	A	5: 114,415,726		probably null	Het
Vmn2r31	C	T	7: 7,387,063		probably null	Het
Vmn2r92	T	A	17: 18,151,921		probably benign	Het
Washc5	A	T	15: 59,333,636	Y685*	probably null	Het
Wdr93	T	A	7: 79,750,069	Y135*	probably null	Het
Wdr95	T	A	5: 149,595,332	I546K	probably damaging	Het
Zbtb38	T	A	9: 96,688,201	T277S	probably benign	Het
Zfp13	T	C	17: 23,576,823	D258G	possibly damaging	Het
Zfp397	T	A	18: 23,960,192	S245T	probably benign	Het
Zfp646	T	C	7: 127,883,735	Y1695H	probably benign	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
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'- ATTTCTCTGTAGACAGCAGTACC -3'
(R):5'- TCAAGTACTGCAGAACAAAATGGTG -3'

Sequencing Primer
(F):5'- TCTGTAGACAGCAGTACCAGTTC -3'
(R):5'- TCCCATTGATGGCCAACTAGG -3'

Posted On

2016-03-01