Mutagenetix > Incidental Mutation

Incidental Mutation 'R2115:Abca16'

233028

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

040119-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120540645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 1510 (E1510A)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000056042
AA Change: E1510A

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: E1510A

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: E1511A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: E1511A

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

Allele List at MGI

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

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,472	D48G	possibly damaging	Het
Aatk	T	C	11: 120,009,736	T1195A	probably benign	Het
Abca12	A	T	1: 71,244,771	N2547K	probably benign	Het
Adam5	A	G	8: 24,744,145		probably benign	Het
Akna	G	A	4: 63,395,160	P242L	probably benign	Het
Akr1b7	G	A	6: 34,418,994	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,634,308	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,784	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660	S111F	probably damaging	Het
Atxn1l	C	T	8: 109,732,608	A341T	probably benign	Het
Birc7	C	A	2: 180,930,849	Q138K	possibly damaging	Het
Blvra	G	T	2: 127,086,069	E80*	probably null	Het
Ccdc148	T	C	2: 59,002,116	E188G	probably damaging	Het
Chad	C	T	11: 94,568,226	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534		probably null	Het
Dirc2	T	C	16: 35,697,939	D468G	probably benign	Het
Dnah17	C	T	11: 118,119,802	C230Y	probably benign	Het
Dnmt3l	C	A	10: 78,063,296	L110I	probably damaging	Het
Dusp11	T	C	6: 85,958,669	D74G	probably damaging	Het
Eif3m	T	C	2: 105,006,796	T61A	probably damaging	Het
Esyt1	T	A	10: 128,522,104	D212V	probably damaging	Het
Exoc4	T	A	6: 33,347,825	N351K	possibly damaging	Het
F13a1	A	T	13: 36,988,857	I183N	probably damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,661,503	N68K	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm1527	T	C	3: 28,917,949	L405P	probably benign	Het
Gm4981	T	C	10: 58,236,251	D47G	possibly damaging	Het
Heatr6	T	A	11: 83,757,455		probably benign	Het
Herc2	T	C	7: 56,185,828		probably benign	Het
Ints14	T	G	9: 64,979,795	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,303,294	R60Q	probably benign	Het
Katnal2	T	C	18: 76,980,091	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,552,963	L755F	probably damaging	Het
Kif4	A	G	X: 100,665,717	S315G	probably benign	Het
Kifc3	A	G	8: 95,108,713	Y178H	probably damaging	Het
Krit1	A	T	5: 3,822,108	R378*	probably null	Het
L3mbtl1	T	A	2: 162,960,070		probably null	Het
Lama3	C	A	18: 12,402,849	T204N	possibly damaging	Het
Lama5	A	G	2: 180,186,885	C2090R	probably damaging	Het
Mb	G	T	15: 77,022,559	Q9K	probably benign	Het
Mipep	T	C	14: 60,787,380	V90A	probably damaging	Het
Myo3a	A	T	2: 22,245,531	I70F	probably damaging	Het
Napa	A	G	7: 16,114,209	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,717,564	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,171,839	V13E	probably damaging	Het
Nmi	T	C	2: 51,948,707	T272A	probably benign	Het
Nptx2	G	C	5: 144,555,406	G331A	probably damaging	Het
Olfr1228	T	C	2: 89,249,530	I55V	probably damaging	Het
Olfr183	T	C	16: 59,000,420	L245P	possibly damaging	Het
Olfr450	A	G	6: 42,817,497	T9A	possibly damaging	Het
Olfr854	T	C	9: 19,567,322	T18A	probably benign	Het
Parp14	T	C	16: 35,858,534	T355A	probably benign	Het
Pcdh12	T	C	18: 38,283,986	T29A	probably damaging	Het
Pced1b	T	A	15: 97,384,624	C181*	probably null	Het
Phka1	C	T	X: 102,610,201	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581		probably benign	Het
Pitrm1	A	T	13: 6,557,773	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,718,987		probably benign	Het
Ppfia2	A	T	10: 106,762,111	K178N	probably damaging	Het
Prkag1	T	C	15: 98,814,552	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735	R372L	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,447,156	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349		probably null	Het
Rassf9	A	G	10: 102,544,945	T63A	probably benign	Het
Rdh11	G	T	12: 79,176,222	Q292K	probably benign	Het
Rere	C	A	4: 150,612,561		probably benign	Het
Rgs18	G	T	1: 144,753,891	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,428,013	N1099S	probably benign	Het
Ros1	T	C	10: 52,128,555	I969V	probably benign	Het
Rrh	T	C	3: 129,810,687	I288M	probably damaging	Het
Rrp12	C	T	19: 41,891,094	V174I	probably benign	Het
Rtf1	T	A	2: 119,705,518	H184Q	probably benign	Het
Sbk3	A	G	7: 4,967,416	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,484,052	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649	T9S	probably benign	Het
Sec23ip	G	A	7: 128,762,461	V488I	probably benign	Het
Serpine3	T	C	14: 62,673,010	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,198,824	T512A	possibly damaging	Het
Smpd4	T	C	16: 17,626,865	Y118H	probably benign	Het
Tcof1	T	C	18: 60,832,785	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,212,053	V120I	probably benign	Het
Usp20	T	A	2: 31,016,305	C562S	probably damaging	Het
Utp20	T	C	10: 88,786,003	D1136G	probably benign	Het
Vgll1	A	C	X: 57,092,430	K53T	probably damaging	Het
Yars	T	G	4: 129,207,923		probably null	Het
Zfp472	A	G	17: 32,978,014	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,826,997	V37A	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
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
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'- CCATTTGCAACTTGGATGGGG -3'
(R):5'- TACTGACTCAGTCCTGGCAG -3'

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

Posted On

2014-09-18