Mutagenetix > Incidental Mutation

Incidental Mutation 'R5152:Abca16'

395445

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

042734-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5152 (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 120540623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1503 (S1503P)

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: S1503P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: S1503P

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: S1504P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: S1504P

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

99% (83/84)

Allele List at MGI

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

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	A	19: 4,863,544	V620F	probably damaging	Het
Adamtsl3	A	G	7: 82,574,544	K252E	probably benign	Het
Adgrg1	A	G	8: 95,009,745	Y509C	probably damaging	Het
Arhgef2	G	A	3: 88,629,568		probably null	Het
Bod1l	T	C	5: 41,816,543	E2476G	probably benign	Het
C130026I21Rik	G	A	1: 85,261,860	P19S	probably benign	Het
Capn3	T	C	2: 120,501,330		probably benign	Het
Catsperz	T	C	19: 6,923,337	T147A	probably benign	Het
Cc2d1b	C	A	4: 108,626,086	A289E	probably benign	Het
Ccdc170	A	C	10: 4,561,107	H722P	probably damaging	Het
Cdk13	C	A	13: 17,718,525	A1358S	probably benign	Het
Cntn6	T	A	6: 104,569,113		probably benign	Het
Coch	A	G	12: 51,595,442	N66D	probably benign	Het
Col12a1	A	G	9: 79,656,748	S1732P	probably damaging	Het
Copa	T	A	1: 172,118,061	V917E	probably benign	Het
Csmd2	C	A	4: 128,552,035	N3299K	probably benign	Het
Cyp2c67	A	T	19: 39,638,688	F233I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,434	H126L	probably damaging	Het
Ddx46	T	C	13: 55,659,030	L492P	probably damaging	Het
Dpysl3	C	T	18: 43,438,080	G43D	probably benign	Het
Enpp5	C	T	17: 44,081,133	P151L	probably damaging	Het
Exoc3l4	T	C	12: 111,430,893		probably benign	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Flg2	C	A	3: 93,214,977	P1485T	unknown	Het
Fmo5	A	G	3: 97,641,762	Y242C	probably benign	Het
Fsip2	C	A	2: 82,978,572	T1745N	probably benign	Het
Gata4	T	A	14: 63,241,121	N10Y	probably damaging	Het
Gm10722	A	C	9: 3,001,041	Y39S	probably benign	Het
Gm4787	A	C	12: 81,378,677	S236A	probably benign	Het
Gm9125	T	C	3: 94,050,144		probably benign	Het
Golga7	A	C	8: 23,245,949	S94A	probably benign	Het
Gpbp1	A	G	13: 111,453,281		probably benign	Het
Grm1	A	G	10: 11,079,875	Y222H	probably benign	Het
Gstcd	A	G	3: 133,084,956	Y17H	possibly damaging	Het
Hephl1	C	A	9: 15,080,185	D586Y	probably damaging	Het
Hpn	C	A	7: 31,099,836	V35L	probably damaging	Het
Il23r	T	A	6: 67,423,741	N535I	probably damaging	Het
Inpp4a	T	C	1: 37,358,535	I45T	possibly damaging	Het
Itgae	G	C	11: 73,130,995	G901R	probably damaging	Het
Kif28	T	C	1: 179,702,538	D686G	probably damaging	Het
Kit	A	G	5: 75,620,847	E312G	probably benign	Het
Lamb2	C	A	9: 108,487,738	S1230R	probably benign	Het
Lars	A	T	18: 42,228,777	D588E	possibly damaging	Het
Lgr4	T	A	2: 110,000,603	F292I	probably damaging	Het
Lmf1	C	T	17: 25,655,519	S458L	probably damaging	Het
Lpin2	T	A	17: 71,245,159	C787S	probably damaging	Het
Ms4a4a	A	C	19: 11,388,312	I138L	probably benign	Het
Mterf1a	A	T	5: 3,890,984	F295I	probably damaging	Het
Muc4	A	T	16: 32,757,058	K241*	probably null	Het
Muc5b	T	C	7: 141,865,531	F4017S	possibly damaging	Het
Nfkbil1	T	C	17: 35,221,408		probably benign	Het
Olfr1269	A	G	2: 90,119,121	L159P	probably damaging	Het
Olfr935	A	T	9: 38,995,177	V86E	possibly damaging	Het
Olfr976	T	C	9: 39,956,906	T22A	probably benign	Het
Osgep	T	C	14: 50,917,858	D81G	probably damaging	Het
Otos	A	G	1: 92,644,394	F70S	probably damaging	Het
Pcdhb2	T	A	18: 37,296,126	V384D	probably damaging	Het
Ppp1r10	C	T	17: 35,929,252	P514S	probably damaging	Het
Pramef17	G	A	4: 143,994,260	P37L	probably damaging	Het
Prdm16	A	G	4: 154,346,102	Y309H	probably damaging	Het
Rap1gds1	A	T	3: 138,956,201	D382E	probably damaging	Het
Reln	A	G	5: 21,948,629	F2226L	probably damaging	Het
Rmi2	C	T	16: 10,839,901	T125M	probably damaging	Het
Setd1a	C	T	7: 127,784,025	T231I	probably benign	Het
Sftpa1	G	A	14: 41,134,352	G218D	probably damaging	Het
Shcbp1	A	T	8: 4,736,138	F655I	probably damaging	Het
Slc5a7	T	C	17: 54,278,833	I319V	possibly damaging	Het
Spata31d1c	C	T	13: 65,035,595	T317I	probably damaging	Het
Speg	C	T	1: 75,428,098	P2845S	possibly damaging	Het
Synpo2	A	G	3: 123,235,901		probably null	Het
Tdrd7	T	A	4: 46,013,191	S644T	probably damaging	Het
Tmem182	T	A	1: 40,838,300	Y112N	probably damaging	Het
Usp45	T	A	4: 21,824,815	N522K	probably benign	Het
Vnn3	A	T	10: 23,864,339	Y180F	probably benign	Het
Wnk1	C	T	6: 120,002,280	R282Q	possibly damaging	Het
Xrn1	A	T	9: 95,964,065	D57V	probably benign	Het
Zfp831	T	C	2: 174,644,564	V344A	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
R4824:Abca16	UTSW	7	120475479	missense	possibly damaging	0.86
R4937:Abca16	UTSW	7	120527086	missense	probably damaging	0.98
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'- CCCATTTGCAACTTGGATGG -3'
(R):5'- TACTGACTCAGTCCTGGCAG -3'

Sequencing Primer
(F):5'- CAACTTGGATGGGGGTTAACC -3'
(R):5'- GTCCTGGCAGAAATTAATTTCATCC -3'

Posted On

2016-06-21