Mutagenetix > Incidental Mutation

Incidental Mutation 'R7840:Abca16'

606214

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 #

R7840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120475466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 577 (N577S)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000056042
AA Change: N576S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: N576S

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: N577S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: N577S

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: 99.7%
20x: 99.0%

Validation Efficiency

99% (73/74)

Allele List at MGI

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

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	A	G	2: 132,750,590	T186A	probably damaging	Het
Ang4	A	G	14: 51,764,072	S140P	probably damaging	Het
Ankdd1b	T	C	13: 96,419,798		probably null	Het
Anln	G	T	9: 22,362,723	A606D	probably benign	Het
Ano5	T	G	7: 51,587,732	V768G	possibly damaging	Het
Ccdc180	A	T	4: 45,900,461	Y275F	possibly damaging	Het
Chpf	T	C	1: 75,476,627	Y334C	probably damaging	Het
Chrdl2	T	C	7: 100,033,656	L381S	probably damaging	Het
Cox20	A	T	1: 178,322,561	Y100F	probably benign	Het
Dbn1	T	C	13: 55,475,509	D433G	possibly damaging	Het
Dclre1a	A	T	19: 56,531,252	I983N	probably damaging	Het
Dok6	A	T	18: 89,560,058	H78Q	probably benign	Het
Fam35a	A	G	14: 34,237,566	Y820H	probably damaging	Het
Fam92b	T	C	8: 120,166,633	D273G	probably benign	Het
Fpr1	A	T	17: 17,877,372	F118L	probably benign	Het
Fscn3	A	G	6: 28,430,176	Y115C	probably damaging	Het
Gabra4	A	C	5: 71,640,913		probably null	Het
Gm11639	G	A	11: 104,733,713	D878N	probably benign	Het
Gm45861	T	C	8: 27,582,723	V1290A	unknown	Het
Hivep1	T	C	13: 42,155,352	V356A	probably benign	Het
Ikbip	T	C	10: 91,101,755	Y97H	possibly damaging	Het
Il10	A	G	1: 131,020,068	T53A	probably benign	Het
Inpp5f	T	C	7: 128,694,802	V959A	probably benign	Het
Insr	T	C	8: 3,258,415	E207G	probably benign	Het
Kndc1	T	A	7: 139,923,816	S1012T	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 142,296,596		probably benign	Het
Ksr2	T	C	5: 117,555,264	V259A	probably benign	Het
Lox	A	T	18: 52,525,122	Y326*	probably null	Het
Lpin2	C	A	17: 71,230,274	T272N	probably benign	Het
Lrp2	C	T	2: 69,464,784	E3397K	probably damaging	Het
Megf11	G	A	9: 64,695,427	C850Y	possibly damaging	Het
Morc1	T	C	16: 48,498,784	F284L	probably benign	Het
Moxd2	T	A	6: 40,885,444	D147V	possibly damaging	Het
Mrpl21	T	C	19: 3,287,752	L153P	probably damaging	Het
Naip2	T	C	13: 100,144,409	T1432A	probably benign	Het
Naip6	T	A	13: 100,315,471	D211V	probably damaging	Het
Ncoa5	T	C	2: 165,012,896	H102R	possibly damaging	Het
Ndel1	A	T	11: 68,829,980	C293*	probably null	Het
Ninl	A	T	2: 150,966,096	M82K	probably benign	Het
Nrcam	G	A	12: 44,541,075		probably null	Het
Nup210l	A	T	3: 90,122,729	I250L	probably benign	Het
Obscn	T	C	11: 59,077,950	E2532G	possibly damaging	Het
Olfr1062	A	G	2: 86,423,239	F146L	probably benign	Het
Olfr110	G	T	17: 37,498,977	G109C	probably damaging	Het
Olfr20	C	A	11: 73,353,759	A2E	probably benign	Het
Osgin1	G	A	8: 119,445,034	S189N	possibly damaging	Het
Otud7b	A	G	3: 96,155,373	E643G	probably damaging	Het
Phldb2	T	A	16: 45,751,364	T1222S	probably damaging	Het
Pwp1	C	T	10: 85,888,050	R472W	probably damaging	Het
Rad21	T	C	15: 51,973,142	Y211C	probably damaging	Het
Rexo1	A	G	10: 80,550,738	V162A	probably benign	Het
Rtl1	C	T	12: 109,594,155	V417I	probably benign	Het
Setbp1	G	A	18: 78,783,424	P1325S	probably benign	Het
Skint7	G	T	4: 111,982,226	C239F	probably benign	Het
Slc25a1	A	G	16: 17,926,274	L221P	probably benign	Het
Snrnp70	T	A	7: 45,376,790	D385V	unknown	Het
Sp7	A	C	15: 102,359,098	V109G	probably benign	Het
Syne1	A	T	10: 5,132,078	Y849N	probably damaging	Het
Tas2r108	T	C	6: 40,493,856	F89L	possibly damaging	Het
Tcf3	C	T	10: 80,410,467	A581T	possibly damaging	Het
Tcrg-C1	A	T	13: 19,216,521	Y140F		Het
Tcta	A	G	9: 108,305,787	L53P	probably damaging	Het
Traf3ip2	C	G	10: 39,626,455	Q200E	probably damaging	Het
Tyk2	A	T	9: 21,124,967	C75S	probably damaging	Het
Ugt3a1	G	A	15: 9,311,817	G382R	probably damaging	Het
Upp2	G	T	2: 58,774,115		probably null	Het
Vmn1r212	A	T	13: 22,883,153	F337I	unknown	Het
Vmn1r58	T	C	7: 5,411,243		probably benign	Het
Vps13d	A	T	4: 145,103,676	V2856D		Het
Wdr37	A	C	13: 8,836,875	L292R	probably damaging	Het
Yipf3	T	C	17: 46,250,864	I199T	probably benign	Het
Zdhhc23	A	G	16: 43,971,544	S289P	possibly damaging	Het
Zfp229	A	T	17: 21,746,150	K454*	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
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'- CTAAAGGCAATTTCTGGGTGC -3'
(R):5'- TCAAGTACTGCAGAACAAAATGGTG -3'

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

Posted On

2019-12-20