Mutagenetix > Incidental Mutation

Incidental Mutation 'R5257:Abca16'

399775

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

042855-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5257 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 120436769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably null
Transcript: ENSMUST00000056042

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900

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 null
Transcript: ENSMUST00000120490

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900

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: 96.9%
20x: 94.5%

Validation Efficiency

97% (63/65)

Allele List at MGI

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

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,249,684	T128S	possibly damaging	Het
Acpp	T	C	9: 104,309,475	I266V	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Asf1b	C	T	8: 83,969,267	T179I	probably benign	Het
Astn1	A	G	1: 158,612,532	K890R	probably damaging	Het
Card11	G	A	5: 140,876,425	P1039L	possibly damaging	Het
Chsy3	A	G	18: 59,409,794	E668G	possibly damaging	Het
Cnot8	T	A	11: 58,117,522	N271K	possibly damaging	Het
Dcaf5	G	T	12: 80,397,719	P200H	probably damaging	Het
Dkk4	C	A	8: 22,627,015	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,674,037	T584I	probably benign	Het
Dock3	T	C	9: 106,996,925	Y449C	probably damaging	Het
Dsg1a	A	G	18: 20,320,931	D31G	probably damaging	Het
Fgfr1op	T	C	17: 8,172,943	S152P	probably benign	Het
Foxi2	C	T	7: 135,410,527	T48M	probably benign	Het
Gdf3	T	C	6: 122,606,386	M341V	probably damaging	Het
Gm21738	A	G	14: 19,415,942	L199S	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Igkv4-80	T	A	6: 69,016,827	T27S	probably benign	Het
Ipo9	A	T	1: 135,385,435	C1019S	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Ktn1	T	A	14: 47,667,363	H199Q	probably benign	Het
Kyat3	A	G	3: 142,734,576	M354V	probably benign	Het
Lbhd1	A	G	19: 8,884,089		probably benign	Het
Llgl1	G	C	11: 60,711,563		probably null	Het
Lyzl6	T	A	11: 103,635,073	I74F	probably damaging	Het
Mfsd4b2	T	A	10: 39,922,021	M113L	probably benign	Het
Mslnl	T	C	17: 25,746,165	Y502H	probably benign	Het
Nckap5	A	G	1: 126,024,508	S1372P	probably damaging	Het
Nle1	T	C	11: 82,904,946	D225G	probably damaging	Het
Olfr221	T	C	14: 52,035,884	T76A	possibly damaging	Het
P2rx7	A	G	5: 122,681,003	E496G	probably damaging	Het
Padi4	C	T	4: 140,746,204	V641M	probably benign	Het
Phf11d	T	C	14: 59,352,711	I221V	possibly damaging	Het
Pla2g2c	G	A	4: 138,731,545		probably benign	Het
Prdm16	A	T	4: 154,367,214	D179E	possibly damaging	Het
Psca	A	T	15: 74,716,391	I56F	probably damaging	Het
Ptrhd1	A	G	12: 4,236,481	Y124C	probably damaging	Het
Sardh	T	C	2: 27,244,259	T82A	probably damaging	Het
Sesn1	C	T	10: 41,894,988	P172S	probably benign	Het
Setd4	T	C	16: 93,596,333	T57A	probably damaging	Het
Skint5	T	C	4: 113,577,662	T1037A	unknown	Het
Slc18a3	T	C	14: 32,463,820	D202G	probably damaging	Het
Slc44a5	G	A	3: 154,243,123	C176Y	probably damaging	Het
Slc6a5	G	A	7: 49,929,992	V373M	probably damaging	Het
Sorbs3	T	C	14: 70,185,034	I523V	probably benign	Het
Sspo	T	C	6: 48,476,494	V2872A	probably damaging	Het
Stard9	T	A	2: 120,699,343	L2027H	probably damaging	Het
Tex2	T	A	11: 106,567,759		probably benign	Het
Tfdp1	C	T	8: 13,369,529	T86M	possibly damaging	Het
Ttc6	A	T	12: 57,702,275	D1331V	possibly damaging	Het
Vps13b	A	G	15: 35,794,421	T2326A	possibly damaging	Het
Wnk1	A	G	6: 120,037,188	S149P	probably benign	Het
Zfp521	G	A	18: 13,846,978	S126F	probably damaging	Het
Zfp958	A	T	8: 4,628,456	E160D	probably benign	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
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'- AGGAACCATGCCTTTGTCTCTTAC -3'
(R):5'- GTTGAGTAACTGGAAAGCTCAG -3'

Sequencing Primer
(F):5'- ACCTTGTGTTTATGTGACATTCC -3'
(R):5'- AAAGAATTTACTGGTCTAGAAACGAG -3'

Posted On

2016-07-06