Mutagenetix > Incidental Mutation

Incidental Mutation 'R8170:Abca16'

634041

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

067596-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120465782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 554 (T554I)

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: T553I

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: T553I

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: T554I

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

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: T554I

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (76/76)

Allele List at MGI

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

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,263,594	V595A	probably benign	Het
A430033K04Rik	A	G	5: 138,647,053	E400G	possibly damaging	Het
Acadm	T	A	3: 153,944,398	R10W	possibly damaging	Het
Arhgap45	G	A	10: 80,027,872	A819T	probably damaging	Het
Arhgef25	A	G	10: 127,187,179	W120R	probably damaging	Het
Atg7	A	T	6: 114,701,190	Q347L	probably benign	Het
Atl2	T	C	17: 79,856,261	I316V	possibly damaging	Het
B4galnt3	A	T	6: 120,206,616		probably null	Het
Baiap2l1	A	T	5: 144,277,692	Y397*	probably null	Het
Cacna1b	A	G	2: 24,678,874		probably null	Het
Capn10	T	C	1: 92,934,964	S31P	probably damaging	Het
Casp8ap2	C	T	4: 32,615,490		probably benign	Het
Ccdc122	A	T	14: 77,091,878	I124L	probably benign	Het
Ccdc90b	A	G	7: 92,561,542	S3G	probably benign	Het
Cdc14b	A	T	13: 64,215,735		probably null	Het
Chd5	T	A	4: 152,376,583	M1210K	probably benign	Het
Clec18a	T	G	8: 111,080,919	K133T	probably damaging	Het
Cog4	T	A	8: 110,866,031	M413K	probably damaging	Het
Cpa5	A	T	6: 30,624,595	I145L	probably benign	Het
Ctdspl2	T	G	2: 122,006,942	S397A	probably benign	Het
Dnah8	T	A	17: 30,673,823	I794N	probably damaging	Het
Ednrb	T	A	14: 103,823,204	T218S	possibly damaging	Het
Eif3b	T	A	5: 140,426,775		probably null	Het
Fam208b	G	A	13: 3,574,881	Q1690*	probably null	Het
Fanci	A	C	7: 79,433,557		probably null	Het
Fat2	C	T	11: 55,270,455	V3150M	probably damaging	Het
Fat3	T	C	9: 15,947,496	Y3808C	probably damaging	Het
Gabrr1	T	A	4: 33,162,718	L428Q	probably damaging	Het
Garnl3	G	C	2: 33,015,223	P488R	possibly damaging	Het
Gli3	T	C	13: 15,720,208	S656P	probably benign	Het
Gm35339	C	A	15: 76,363,619	F1614L		Het
Gpr153	T	C	4: 152,280,177	I230T	probably damaging	Het
Hoxc6	A	G	15: 103,009,861	N86D	probably benign	Het
Iqch	T	G	9: 63,429,030	R985S	probably damaging	Het
Jun	T	A	4: 95,050,322	N317I	probably damaging	Het
Kif26a	T	G	12: 112,175,318		probably null	Het
Map4k3	T	C	17: 80,605,860	H627R	possibly damaging	Het
Misp	T	A	10: 79,826,466	I239N	probably benign	Het
Mpzl2	T	A	9: 45,043,721	V27E	probably damaging	Het
Mta3	T	C	17: 83,791,661	S385P	probably damaging	Het
Muc5b	G	A	7: 141,861,000	S2561N	unknown	Het
Myh8	A	G	11: 67,288,266	H495R	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nlrp5	A	T	7: 23,433,710	T927S	probably benign	Het
Nr5a2	T	A	1: 136,940,647	D310V	probably benign	Het
Nrbp1	A	G	5: 31,245,803	T207A	probably damaging	Het
Nxf1	G	T	19: 8,771,050	L14F	probably benign	Het
Olfr447	G	A	6: 42,912,191	A223T	possibly damaging	Het
Olfr777	T	A	10: 129,269,048	N92Y	possibly damaging	Het
Pcdhb15	A	G	18: 37,475,584	E623G	probably damaging	Het
Pid1	T	C	1: 84,285,000		probably null	Het
Plcb2	C	A	2: 118,711,453	R892L	possibly damaging	Het
Polr1a	C	G	6: 71,920,749	P243A	probably benign	Het
Pot1a	A	G	6: 25,758,803	*326Q	probably null	Het
Ppp5c	G	T	7: 17,007,146	F335L	probably damaging	Het
Prl8a2	T	C	13: 27,352,811	Y139H	probably benign	Het
Rogdi	G	T	16: 5,011,737	R93S	probably benign	Het
Rsph6a	C	A	7: 19,057,580	R225S	probably damaging	Het
Sept8	T	C	11: 53,537,857	S408P	possibly damaging	Het
Sf3a2	T	A	10: 80,803,297		probably null	Het
Shank3	T	C	15: 89,548,840	S1263P	possibly damaging	Het
Speer4f2	A	C	5: 17,374,461	D86A		Het
Stard9	T	C	2: 120,700,048	F2262S	possibly damaging	Het
Svep1	T	A	4: 58,069,378	I2803F	probably benign	Het
Taf1c	C	T	8: 119,602,826		probably null	Het
Tepp	A	T	8: 95,320,058	I120F	probably damaging	Het
Tfap2a	C	T	13: 40,719,268	V317I	probably benign	Het
Thnsl2	T	C	6: 71,129,333	T370A	probably benign	Het
Tmem201	C	T	4: 149,718,720	G564S	probably benign	Het
Ttc41	A	C	10: 86,776,166	E1101A	probably damaging	Het
Ugcg	T	A	4: 59,211,974	F113L	possibly damaging	Het
Unc80	G	T	1: 66,651,533	V2456L	probably benign	Het
Vav3	A	T	3: 109,424,007	N74I	probably damaging	Het
Vmn2r25	T	A	6: 123,853,017	R58S	probably benign	Het
Ylpm1	T	A	12: 85,034,027	M1499K	probably benign	Het
Zfp647	A	G	15: 76,911,371	V363A	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
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
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'- GCTAGCATGTGTTGGATGATATAAG -3'
(R):5'- GAGTACTTTGGTTCAAATAGTACGG -3'

Sequencing Primer
(F):5'- GCATGTGTTGGATGATATAAGTACAG -3'
(R):5'- CCCATAGACTCATGTGTGAATGC -3'

Posted On

2020-07-13