Mutagenetix > Incidental Mutation

Incidental Mutation 'R9800:Abca16'

735157

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9800 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120520060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1009 (I1009N)

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: I1008N

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: I1008N

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: I1009N

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: I1009N

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	A	15: 64,699,246	N1213Y	probably benign	Het
Ahctf1	T	C	1: 179,753,868	S1590G	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,272	N277K	probably damaging	Het
Ank2	A	T	3: 126,946,500	S1912T	unknown	Het
Ank3	T	A	10: 69,898,127	N740K	unknown	Het
Atp13a3	A	C	16: 30,340,233	I800S	probably benign	Het
AU041133	T	A	10: 82,150,845	C111S	probably damaging	Het
Azi2	T	A	9: 118,055,856	I211N	probably benign	Het
Btbd11	C	A	10: 85,388,215	A296E	unknown	Het
Camk2b	T	C	11: 5,972,408	N480S	probably damaging	Het
Card6	A	G	15: 5,099,220	V898A	probably benign	Het
Copb2	T	A	9: 98,579,028	M381K	probably damaging	Het
Crisp1	A	T	17: 40,305,180	M102K	probably damaging	Het
Dcxr	A	T	11: 120,727,258		probably benign	Het
Dennd5a	C	A	7: 109,901,167	R917L	probably benign	Het
Egflam	T	A	15: 7,250,044	T494S	probably benign	Het
Fkbpl	T	A	17: 34,645,717	M153K	probably benign	Het
Helz2	A	T	2: 181,240,823	I59N	probably damaging	Het
Ldlrap1	T	C	4: 134,749,992	T194A	probably benign	Het
Lman1l	T	C	9: 57,615,777	D133G	probably damaging	Het
Lrrc27	T	C	7: 139,227,997	M340T	probably benign	Het
Lum	T	A	10: 97,568,295	S17R	probably benign	Het
Malrd1	A	G	2: 15,842,594	K1182E	unknown	Het
Map3k2	A	T	18: 32,200,016	D81V	possibly damaging	Het
Muc5b	A	T	7: 141,861,743	T2809S	possibly damaging	Het
Nle1	C	A	11: 82,903,050	V387L	probably benign	Het
Nr1h4	T	C	10: 89,454,756	D474G	probably benign	Het
Nup205	T	C	6: 35,186,533	I144T	possibly damaging	Het
Olfr1122	G	T	2: 87,388,164	C153F	probably damaging	Het
Olfr1309	G	A	2: 111,983,849	S75L	possibly damaging	Het
Olfr23	C	A	11: 73,941,160	L305I	probably benign	Het
Olfr444	A	T	6: 42,956,157	I220F	probably damaging	Het
Olfr566	T	C	7: 102,856,886	Y132C	probably benign	Het
Olfr732	G	A	14: 50,282,244	T3I	probably benign	Het
Pkn3	C	T	2: 30,083,278	R371*	probably null	Het
Plin2	A	T	4: 86,668,505	S30T	possibly damaging	Het
Ppfibp1	T	C	6: 147,016,271	V475A	probably benign	Het
Ppp2ca	T	C	11: 52,118,083	Y137H	probably damaging	Het
Rasgrf2	T	A	13: 92,131,352	Q48L	probably damaging	Het
Rnf168	G	C	16: 32,298,568	V316L	probably benign	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Spata31d1d	T	C	13: 59,726,823	H966R	possibly damaging	Het
Speg	C	A	1: 75,422,714	D2268E	probably benign	Het
Srp54c	A	G	12: 55,250,026	I170V	probably benign	Het
Syde2	A	G	3: 145,998,609	R439G	probably benign	Het
Tcof1	T	C	18: 60,816,486	K1155R	unknown	Het
Tmem184c	T	C	8: 77,596,458	I592V	probably benign	Het
Trav6-7-dv9	A	G	14: 53,710,212	Y57C	probably damaging	Het
Trpc1	T	A	9: 95,743,250	I108F	probably damaging	Het
Virma	A	T	4: 11,546,007	H1615L	probably damaging	Het
Vmn2r10	A	T	5: 109,002,538	D213E	probably damaging	Het
Vmn2r116	T	A	17: 23,401,425	V711E	probably damaging	Het
Vps16	T	C	2: 130,440,485	F413L	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	probably damaging	Het
Wasf1	T	C	10: 40,936,697	I494T	unknown	Het
Wdr36	A	G	18: 32,852,647	D539G	possibly damaging	Het
Zfp81	A	T	17: 33,335,437	C134*	probably null	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
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
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'- TGGTAAGTGGAGAAATAAACCCCAC -3'
(R):5'- CCAAGGAAATGCTTGTTAAGACTC -3'

Sequencing Primer
(F):5'- CCCCACAGCTTTATAAGATACATTC -3'
(R):5'- GGAAATGCTTGTTAAGACTCAATTTC -3'

Posted On

2022-11-14