Mutagenetix > Incidental Mutation

Incidental Mutation 'R1876:Abca16'

211227

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

039898-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120433385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 209 (D209A)

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: D209A

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: D209A

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: D209A

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

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: D209A

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

Allele List at MGI

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

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 76,877,549	C961F	probably damaging	Het
Adamts14	T	C	10: 61,200,372	I1047V	probably benign	Het
Ak1	A	G	2: 32,630,270	K27E	probably damaging	Het
Akap9	T	A	5: 3,961,809	D837E	probably benign	Het
Arfgef3	T	C	10: 18,597,356	Y1653C	probably damaging	Het
Atad2	T	G	15: 58,106,868	I446L	probably benign	Het
Atp8b3	T	G	10: 80,530,078	T313P	possibly damaging	Het
Btg4	T	C	9: 51,117,189	L72S	probably damaging	Het
Canx	A	G	11: 50,304,359	I294T	probably damaging	Het
Casp1	G	A	9: 5,303,663	E250K	probably benign	Het
Chchd10	T	A	10: 75,936,332	S46T	probably benign	Het
Col12a1	G	T	9: 79,678,281	Y1271*	probably null	Het
Col3a1	G	A	1: 45,342,235		probably null	Het
Ctc1	A	T	11: 69,031,564	T872S	probably benign	Het
Cx3cl1	T	C	8: 94,780,420	F351S	probably damaging	Het
Cyb5r4	T	A	9: 87,055,814	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,217,419	T285A	probably benign	Het
Dip2a	G	A	10: 76,318,091	T135M	probably damaging	Het
Fgf10	A	G	13: 118,789,159	E158G	probably damaging	Het
Ftcd	G	T	10: 76,581,569	A281S	probably benign	Het
Gm16368	T	G	12: 88,084,040	I115S	probably damaging	Het
Gpat4	A	T	8: 23,179,470	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,534,753	L541P	probably damaging	Het
Grk5	T	C	19: 61,083,225	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,246,345		probably null	Het
Hsd17b13	T	A	5: 103,968,767	N127I	probably damaging	Het
Hspa4	T	G	11: 53,284,156	D158A	probably benign	Het
Ice2	G	A	9: 69,415,575	A451T	possibly damaging	Het
Inpp5e	A	T	2: 26,408,157	I144K	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lrrc49	T	C	9: 60,587,777	I652V	possibly damaging	Het
Man1a	A	T	10: 53,919,172	W571R	probably damaging	Het
Mecom	A	G	3: 29,993,658	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,872,474	I162T	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,630	W265R	probably damaging	Het
Mup21	C	T	4: 62,149,426	V79I	probably benign	Het
Myh11	G	A	16: 14,269,103		probably benign	Het
Myom3	T	A	4: 135,779,400	F495I	probably benign	Het
Ncoa7	A	T	10: 30,698,126		probably benign	Het
Nisch	T	C	14: 31,173,637	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,890,439		probably benign	Het
Olfr356	A	T	2: 36,937,763	I215F	possibly damaging	Het
Olfr728	A	G	14: 50,140,172	S156P	probably damaging	Het
Pdcl	A	C	2: 37,355,696	H98Q	probably damaging	Het
Pink1	A	G	4: 138,315,702	V427A	probably damaging	Het
Plce1	T	C	19: 38,780,623	S2242P	probably damaging	Het
Plrg1	C	A	3: 83,069,068		probably benign	Het
Plxnc1	A	G	10: 94,866,941	F586S	possibly damaging	Het
Pnpla7	G	A	2: 25,040,973	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,352,207	D427V	possibly damaging	Het
Ppp6r3	A	T	19: 3,471,971		probably benign	Het
Pros1	A	T	16: 62,903,518	S210C	probably damaging	Het
Ptk2b	A	G	14: 66,158,392	S839P	probably benign	Het
Ptpre	T	C	7: 135,678,317	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,595,259	A142T	probably damaging	Het
Safb2	T	C	17: 56,576,909		probably null	Het
Scnn1a	A	G	6: 125,338,838	E384G	probably benign	Het
Sec23ip	A	G	7: 128,752,851	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,827,711	T42M	probably damaging	Het
Slc6a4	A	T	11: 77,015,164	T264S	probably benign	Het
Srgap3	A	G	6: 112,775,566	M319T	probably damaging	Het
Strn4	T	A	7: 16,838,282	I640N	probably damaging	Het
Tacc2	A	G	7: 130,623,745	D739G	probably benign	Het
Tigd4	T	A	3: 84,593,935	L53*	probably null	Het
Tlr6	T	A	5: 64,955,420	D48V	probably damaging	Het
Tmem125	T	C	4: 118,541,904	D110G	probably damaging	Het
Tmem198	A	G	1: 75,484,923	D341G	probably damaging	Het
Tnfaip3	A	G	10: 19,004,934	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Ush2a	T	A	1: 188,678,289	I2378N	possibly damaging	Het
Usp47	A	G	7: 112,054,920	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,286,638	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,946,297	V393D	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
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'- AGTAGAAAACTTAGCAAGCTTGCCAG -3'
(R):5'- AACACAATGGATCGCATGATG -3'

Sequencing Primer
(F):5'- CTGTGGTAGGTTCCATGTAT -3'
(R):5'- CACAATGGATCGCATGATGGAAAG -3'

Posted On

2014-06-30