Mutagenetix > Incidental Mutation

Incidental Mutation 'R4706:Abca16'

355225

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

041954-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120465765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 548 (N548K)

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: N547K

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: N547K

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: N548K

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

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: N548K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144122

SMART Domains

Protein: ENSMUSP00000114975
Gene: ENSMUSG00000051900

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	2	133	1e-16	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,279	M353K	probably benign	Het
Abcd2	T	C	15: 91,159,182	D601G	probably benign	Het
Afap1l2	A	T	19: 56,937,240	I152N	possibly damaging	Het
Ankrd52	T	G	10: 128,378,161	M62R	probably benign	Het
Aox4	A	T	1: 58,266,787	T1317S	probably damaging	Het
Apol7c	T	A	15: 77,525,723	Q341L	probably benign	Het
Arhgef4	C	T	1: 34,732,217	R1202W	probably benign	Het
B4galnt2	C	T	11: 95,876,097		probably null	Het
BC049762	A	T	11: 51,253,841	F204L	possibly damaging	Het
Cecr2	A	T	6: 120,755,578	E477V	possibly damaging	Het
Chmp7	A	T	14: 69,718,561	D419E	probably benign	Het
Cmip	A	C	8: 117,377,154	K127T	probably damaging	Het
Csmd2	T	C	4: 128,544,751	V3041A	probably benign	Het
Cyp1b1	T	A	17: 79,713,342	I324F	possibly damaging	Het
Dapp1	T	C	3: 137,933,167	D225G	probably benign	Het
Ddx10	T	C	9: 53,233,931	T249A	probably damaging	Het
Dscaml1	T	C	9: 45,450,580	Y213H	probably damaging	Het
Eef1a2	T	C	2: 181,155,357	D17G	probably damaging	Het
Fbn1	T	C	2: 125,370,149	I848V	probably benign	Het
Fbxw18	A	G	9: 109,690,517	I307T	probably benign	Het
Fxr1	T	A	3: 34,064,129	D500E	probably damaging	Het
Gars	G	A	6: 55,069,378	G492D	probably damaging	Het
Gria2	A	T	3: 80,740,990	D146E	probably benign	Het
Gstz1	A	G	12: 87,159,120	N37S	probably benign	Het
Hnrnph3	C	A	10: 63,017,280	G194V	probably damaging	Het
Il2rb	T	C	15: 78,486,400	R172G	possibly damaging	Het
Itga11	T	A	9: 62,755,296	V517D	possibly damaging	Het
Kcnq4	A	G	4: 120,704,486	I462T	probably benign	Het
Klf6	T	A	13: 5,861,640	M1K	probably null	Het
Lrp8	G	A	4: 107,861,273	A817T	probably benign	Het
Map3k5	T	A	10: 20,058,938	Y509N	probably damaging	Het
Mdc1	C	T	17: 35,852,779	S1073F	probably damaging	Het
Mme	A	G	3: 63,348,712	D531G	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mroh7	A	T	4: 106,691,624	V1014E	possibly damaging	Het
Myo1d	C	T	11: 80,666,641	C491Y	probably damaging	Het
Ncoa3	C	A	2: 166,047,879	D61E	probably damaging	Het
Nmrk1	A	G	19: 18,645,127	E190G	probably benign	Het
Nr4a2	G	T	2: 57,112,213	P13H	probably damaging	Het
Nup205	T	C	6: 35,202,008	L671P	probably damaging	Het
Olfr1058	G	A	2: 86,386,388	T10I	probably benign	Het
Olfr1221	A	T	2: 89,112,232	F93L	probably damaging	Het
Olfr284	G	T	15: 98,340,778	H70Q	possibly damaging	Het
Olfr429	A	G	1: 174,089,702	I221V	probably damaging	Het
Olfr568	T	A	7: 102,877,433	H104Q	probably damaging	Het
Omt2a	T	C	9: 78,313,070	I16V	probably benign	Het
Osbpl9	A	T	4: 109,156,687	I70N	probably damaging	Het
Pclo	A	T	5: 14,714,207	L4231F	unknown	Het
Per1	C	T	11: 69,100,618		probably benign	Het
Perm1	G	T	4: 156,217,074	C25F	probably damaging	Het
Phf3	A	G	1: 30,805,606	V1424A	probably damaging	Het
Plxnb1	T	G	9: 109,112,028	L1625R	probably damaging	Het
Ppid	G	A	3: 79,599,052	V216I	probably benign	Het
Ppp4r3a	C	T	12: 101,041,916	G754D	probably damaging	Het
Prex2	G	T	1: 11,199,988	W1299L	probably damaging	Het
Ptprn2	C	A	12: 116,872,094	Q350K	probably benign	Het
Ralyl	G	A	3: 14,039,790		probably null	Het
Rbm8a	G	A	3: 96,630,052		probably benign	Het
Ros1	A	G	10: 52,101,894	S1419P	possibly damaging	Het
Rps6ka5	T	A	12: 100,581,319	I311F	probably damaging	Het
Rps6ka5	C	T	12: 100,597,885		probably null	Het
Rtel1	T	C	2: 181,323,746		probably null	Het
Sacs	A	G	14: 61,204,273	E1256G	probably damaging	Het
Sec23a	A	G	12: 58,982,586	V467A	probably damaging	Het
Sec24d	T	A	3: 123,355,778	N811K	possibly damaging	Het
Sf3b1	G	A	1: 54,990,507	T1112M	probably damaging	Het
Shisa5	T	A	9: 109,056,060	C133S	probably null	Het
Slc16a6	A	G	11: 109,463,367	S59P	probably benign	Het
Slc25a31	G	A	3: 40,716,545	A89T	probably damaging	Het
Slc6a1	G	T	6: 114,307,752	R257L	possibly damaging	Het
Sntb1	C	T	15: 55,749,274	V303M	probably benign	Het
Snx20	A	G	8: 88,627,811	V97A	probably damaging	Het
Vmn1r29	T	A	6: 58,308,151	N285K	probably benign	Het
Vmn2r98	T	G	17: 19,069,745	S514R	probably damaging	Het
Zfp28	A	T	7: 6,389,794	E156D	probably damaging	Het
Zfp39	A	G	11: 58,902,807	V35A	probably benign	Het
Zfp536	A	C	7: 37,569,466	I175S	probably damaging	Het
Zic5	A	T	14: 122,459,557	S549T	unknown	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
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'- CACTATTGCTAGCATGTGTTGG -3'
(R):5'- GAGTACTTTGGTTCAAATAGTACGG -3'

Sequencing Primer
(F):5'- GCATGTGTTGGATGATATAAGTACAG -3'
(R):5'- CCCATAGACTCATGTGTGAATGC -3'

Posted On

2015-10-21