Mutagenetix > Incidental Mutation

Incidental Mutation 'R7750:Abca16'

597153

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 #

R7750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120514705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 933 (N933I)

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: N932I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: N932I

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: N933I

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: N933I

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (56/56)

Allele List at MGI

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

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,200	D816V	possibly damaging	Het
Acly	A	T	11: 100,478,013		probably null	Het
Acox1	C	T	11: 116,183,580	G105D	possibly damaging	Het
Ankrd24	A	G	10: 81,646,794	E939G	possibly damaging	Het
Bard1	T	A	1: 71,066,942		probably null	Het
Brd4	G	T	17: 32,213,547	N579K	unknown	Het
C1qc	T	C	4: 136,890,281	Y168C	probably damaging	Het
Casp6	A	G	3: 129,912,209	D175G	probably damaging	Het
Ccdc83	A	T	7: 90,223,982	Y388*	probably null	Het
Clasrp	A	T	7: 19,584,591	*628R	probably null	Het
Cox4i1	A	G	8: 120,673,310	I111V	probably benign	Het
Cpvl	T	A	6: 53,926,901	D293V	probably damaging	Het
Epb41l4b	C	T	4: 57,076,913		probably null	Het
Frem2	C	A	3: 53,523,682	L2743F	possibly damaging	Het
Frmd4a	A	T	2: 4,601,349	H628L	probably benign	Het
Fyb	A	G	15: 6,660,703	D809G	probably damaging	Het
Gm19410	T	A	8: 35,807,498	M1491K	possibly damaging	Het
Gm3604	G	A	13: 62,369,996	H183Y	possibly damaging	Het
H1fnt	A	G	15: 98,256,684	S195P	unknown	Het
Lama2	T	C	10: 26,990,924	Y2858C	probably damaging	Het
Methig1	T	C	15: 100,353,531	F108L	probably benign	Het
Mfsd4b5	A	G	10: 39,970,255	V443A	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Myh9	C	T	15: 77,783,410	V608I	probably benign	Het
Myo1g	T	C	11: 6,514,849	D475G	probably damaging	Het
Neb	A	C	2: 52,280,716		probably null	Het
Nlrp1b	T	A	11: 71,168,839	I769F	probably benign	Het
Nol8	G	T	13: 49,662,266	V617F	possibly damaging	Het
Olfr715b	A	T	7: 107,106,533	C109*	probably null	Het
Pik3r2	A	G	8: 70,770,901	F346S	probably damaging	Het
Pou3f3	T	A	1: 42,698,148	F335I	probably damaging	Het
Ppp1r3e	T	C	14: 54,876,627	D196G	probably damaging	Het
Prpf40a	T	C	2: 53,151,745	T545A	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rprd1a	T	A	18: 24,508,254	K102*	probably null	Het
Sim1	A	G	10: 50,896,035	T47A	possibly damaging	Het
Slc45a1	C	T	4: 150,644,041	A102T	probably damaging	Het
Slc6a11	C	T	6: 114,230,137	P361S	possibly damaging	Het
Slc9b2	T	C	3: 135,326,237	F286S	probably damaging	Het
Slco4a1	T	C	2: 180,471,237	S421P	probably benign	Het
Snap91	A	C	9: 86,798,709		probably null	Het
Sppl2a	A	G	2: 126,919,705	L293P	probably damaging	Het
Sval3	T	A	6: 41,972,426	I66K	possibly damaging	Het
Synj2bp	T	C	12: 81,504,537	I85V	probably benign	Het
Thop1	G	T	10: 81,080,191	A403S	probably benign	Het
Timd4	T	A	11: 46,815,527	M52K	probably damaging	Het
Tmco5b	A	G	2: 113,288,264	N111D	probably damaging	Het
Trip10	G	A	17: 57,261,667	V419I	possibly damaging	Het
Trpv3	T	C	11: 73,286,021	Y409H	probably damaging	Het
Tulp4	A	G	17: 6,233,124	T1143A	probably damaging	Het
Ugt2b5	A	T	5: 87,140,249	S20T	probably benign	Het
Unc5b	A	G	10: 60,775,044	F406L	probably benign	Het
Usf3	A	G	16: 44,220,521	E1788G	probably benign	Het
Usp45	A	G	4: 21,780,430	D27G	probably damaging	Het
Vmn2r100	G	A	17: 19,522,464	V367I	probably benign	Het
Vmn2r49	T	A	7: 9,976,258	K849I	probably damaging	Het
Zfp119b	A	T	17: 55,938,682	H501Q	probably damaging	Het
Zfp462	C	A	4: 55,016,958	H893N	probably benign	Het
Zkscan4	A	G	13: 21,479,355	E88G	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
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
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'- TAGGTTCCACTTTACCGCCAG -3'
(R):5'- CTAAGATACTGGTAACTGGTGGGATG -3'

Sequencing Primer
(F):5'- ACCGCCAGCAATTCTATTCC -3'
(R):5'- CCATTGCAAGTGATAAGTAGGTC -3'

Posted On

2019-11-26