Mutagenetix > Incidental Mutation

Incidental Mutation 'R6527:Abca16'

521975

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 #

R6527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120477772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 686 (I686N)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056042
AA Change: I686N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: I686N

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

possibly damaging
Transcript: ENSMUST00000120490
AA Change: I687N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: I687N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153845

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,527	T826A	probably damaging	Het
Abcb6	T	C	1: 75,177,488		probably null	Het
Adgrl3	A	C	5: 81,787,517	E1299A	probably damaging	Het
Als2cr12	T	C	1: 58,692,413	M1V	probably null	Het
Amd2	A	C	10: 35,710,806	Y252D	probably damaging	Het
Cfap74	A	G	4: 155,422,265		probably null	Het
Dhx29	G	T	13: 112,932,542	K135N	probably damaging	Het
Dlg5	T	A	14: 24,190,448	D245V	possibly damaging	Het
Dscaml1	C	T	9: 45,712,184	Q83*	probably null	Het
Dsp	T	A	13: 38,195,873	L1599Q	probably damaging	Het
Duox2	A	G	2: 122,294,614	V369A	probably benign	Het
Gbe1	T	A	16: 70,433,672		probably null	Het
Gm7298	A	G	6: 121,769,710	K600R	probably benign	Het
Heatr4	C	T	12: 83,979,763	G240E	probably damaging	Het
Jakmip2	A	G	18: 43,556,524	V651A	possibly damaging	Het
Jam3	C	T	9: 27,155,344	R8Q	unknown	Het
Letm2	A	G	8: 25,592,506		probably benign	Het
Lmod3	T	C	6: 97,247,378	D494G	probably benign	Het
Mast2	T	C	4: 116,314,939	D604G	probably damaging	Het
Mif4gd	C	T	11: 115,609,275		probably null	Het
Msr1	T	C	8: 39,624,233	E112G	possibly damaging	Het
Mtus2	A	G	5: 148,277,598		probably null	Het
Muc4	A	G	16: 32,753,433	H1103R	probably benign	Het
Nudt14	T	A	12: 112,934,887	I198F	possibly damaging	Het
Olfr1341	T	A	4: 118,709,848	F147Y	possibly damaging	Het
Olfr353	T	C	2: 36,890,582	T89A	probably benign	Het
Olfr736	T	A	14: 50,393,428	L224*	probably null	Het
Osbpl8	T	C	10: 111,293,205	I884T	probably benign	Het
Podxl2	T	C	6: 88,842,930	N550S	probably damaging	Het
Ppp1r9a	A	G	6: 5,045,949	Y151C	probably damaging	Het
Prss42	T	C	9: 110,800,856	V226A	possibly damaging	Het
Psmd12	A	G	11: 107,488,968	I116V	probably damaging	Het
Psme4	A	C	11: 30,832,175	I872L	probably benign	Het
Rab11fip1	A	T	8: 27,174,392	V65E	probably damaging	Het
Ros1	T	C	10: 52,143,377	N700S	possibly damaging	Het
Slc15a4	G	A	5: 127,596,709	T547M	probably damaging	Het
Slfn3	T	A	11: 83,213,106	C268S	probably benign	Het
Smc5	T	C	19: 23,228,190	Q794R	probably benign	Het
Sqor	A	G	2: 122,809,286	Y434C	probably damaging	Het
Steap4	T	A	5: 7,978,502	L360H	probably damaging	Het
Sycp1	A	G	3: 102,898,887	V496A	probably benign	Het
Tmem161b	T	G	13: 84,272,264	M128R	probably benign	Het
Tmem59l	T	C	8: 70,486,125	E102G	probably damaging	Het
Tnks	A	T	8: 34,873,093	V457D	probably benign	Het
Tomt	A	G	7: 101,900,392	Y230H	probably damaging	Het
Trim37	A	G	11: 87,190,084	N561D	probably damaging	Het
V1ra8	T	A	6: 90,203,313	I166K	probably damaging	Het
Vmn1r56	A	G	7: 5,196,576	V14A	probably benign	Het
Vsig8	T	C	1: 172,560,358	V5A	possibly damaging	Het
Vwa8	A	T	14: 78,947,213	S384C	possibly damaging	Het
Wwc1	C	T	11: 35,853,437	E853K	probably benign	Het
Zfp984	T	C	4: 147,755,924	N157D	probably benign	Het
Zzef1	G	A	11: 72,874,990	D1448N	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
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
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'- CACAGCTGGTTTAAATGATGTTTGG -3'
(R):5'- AAATGGGTCAGCAACTTTGTG -3'

Sequencing Primer
(F):5'- CTGGTTTAAATGATGTTTGGGATTG -3'
(R):5'- GGGTCAGCAACTTTGTGTAAAATTGC -3'

Posted On

2018-06-06