Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Abca16'

166897

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

039574-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120540705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1530 (I1530N)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000056042
AA Change: I1530N

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: I1530N

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: I1531N

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: I1531N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

Allele List at MGI

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

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	T	9: 50,764,007	R40Q	probably damaging	Het
3110009E18Rik	T	C	1: 120,171,473	S99P	possibly damaging	Het
4932431P20Rik	C	T	7: 29,529,579		noncoding transcript	Het
Abcc9	T	G	6: 142,664,635	Q601P	probably damaging	Het
Acap3	A	G	4: 155,896,174		probably benign	Het
Adamts16	A	T	13: 70,791,794		probably null	Het
Alpk2	G	C	18: 65,350,204	S244R	probably benign	Het
Atp8b1	C	T	18: 64,545,264	V854M	probably damaging	Het
Bend5	C	A	4: 111,459,763	D374E	probably benign	Het
Catsperg2	T	C	7: 29,698,246	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,757,397	G189*	probably null	Het
Ces2h	A	G	8: 105,014,486	T37A	probably benign	Het
Cmah	T	C	13: 24,439,220	F213L	probably damaging	Het
Cntn2	T	C	1: 132,525,384	E390G	probably benign	Het
Coq7	C	T	7: 118,529,674	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,266,287	D136V	probably benign	Het
Cxcr2	T	C	1: 74,159,058	L237P	probably damaging	Het
Daam1	T	C	12: 71,951,918	L549P	unknown	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dis3	G	T	14: 99,079,426	Q825K	probably damaging	Het
Dnah11	C	T	12: 118,018,730	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,816,322	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,546,064	E2041K	probably damaging	Het
Doxl2	T	C	6: 48,975,464	F108L	probably damaging	Het
Eci1	A	G	17: 24,439,090	E282G	probably benign	Het
Egf	T	A	3: 129,690,778	T464S	probably benign	Het
Eif4g3	C	T	4: 138,097,302	P97S	probably damaging	Het
Emsy	A	G	7: 98,593,737	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,708,166		probably benign	Het
Fam13a	A	C	6: 58,939,347	I607S	probably damaging	Het
Fam241b	A	G	10: 62,108,949	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,523,527	M1L	probably benign	Het
Fnip2	C	A	3: 79,481,765	C553F	probably damaging	Het
Frmd3	G	T	4: 74,013,758		probably benign	Het
Gm597	T	C	1: 28,777,424	E509G	probably damaging	Het
Gm9745	A	T	13: 8,940,644		probably benign	Het
Grm4	G	A	17: 27,434,801	S470L	probably benign	Het
Gucy2e	T	A	11: 69,226,244	I784F	probably damaging	Het
H1fx	T	C	6: 87,981,148	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,420,407	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,168,538	G161R	probably damaging	Het
Idi1	T	C	13: 8,886,909		probably benign	Het
Kcnq2	C	T	2: 181,134,825	G90S	probably damaging	Het
Klhl29	A	G	12: 5,084,486	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,794,570		probably benign	Het
Macf1	A	T	4: 123,440,693	F4420I	probably benign	Het
Me1	A	G	9: 86,587,043	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,870,605	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,702,779	L273P	probably damaging	Het
Mical1	A	G	10: 41,485,211	K757R	possibly damaging	Het
Myh9	A	T	15: 77,777,813	V782D	probably damaging	Het
Nab2	C	G	10: 127,665,047	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,761,724	N244K	probably damaging	Het
Nupr1l	A	G	5: 129,908,831	I80M	probably damaging	Het
Olfr1229	T	C	2: 89,283,057	I46M	probably benign	Het
Olfr583	A	G	7: 103,051,369	T24A	probably benign	Het
Olfr76	A	G	19: 12,120,332	C115R	probably damaging	Het
Pkn3	A	G	2: 30,087,053	T602A	probably benign	Het
Prrc2b	T	A	2: 32,204,289	V561D	probably benign	Het
Psd2	T	A	18: 36,005,790	V489E	probably benign	Het
Rasal2	T	C	1: 157,230,059	T181A	probably benign	Het
Serpinb13	T	C	1: 106,982,156	M1T	probably null	Het
Sgsm1	A	T	5: 113,263,269	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,673,941	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Son	A	G	16: 91,659,734	K1790E	probably damaging	Het
Syde2	A	G	3: 146,002,421		probably benign	Het
Tmem126a	T	C	7: 90,452,818	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,802,174	Y269C	probably damaging	Het
Yeats2	T	A	16: 20,189,365	S416T	probably damaging	Het
Zfp40	A	T	17: 23,175,869	H513Q	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
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
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'- ACCCATTGCTGACCAGTTTATCCAC -3'
(R):5'- TAGCAGGTTCACCCACAGTTGCTTC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CTCTGTAGCTCCTATGTTTAGGAAAG -3'

Posted On

2014-04-13