Mutagenetix > Incidental Mutation

Incidental Mutation 'RF020:Abca16'

603812

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120533657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1270 (K1270E)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056042
AA Change: K1269E

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: K1269E

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: K1270E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: K1270E

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	C	4: 130,010,084	S668P	probably damaging	Het
Ahdc1	T	G	4: 133,064,277	L943R	possibly damaging	Het
Ank2	T	C	3: 126,945,476	K2253R	unknown	Het
Arhgap23	T	C	11: 97,463,561	S767P	probably damaging	Het
Arhgef12	A	G	9: 42,989,989	I839T	possibly damaging	Het
Begain	CGCCGC	CGCCGCGGCCGC	12: 109,033,424		probably benign	Het
Btbd19	A	T	4: 117,122,275	C116S	probably damaging	Het
Cbr1	C	T	16: 93,610,179	A261V	probably benign	Het
Ccdc137	A	G	11: 120,458,196	R18G	probably benign	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,554,979		probably benign	Het
Celsr3	C	T	9: 108,849,057	R3162C	probably benign	Het
Cep350	A	T	1: 155,915,478	V1300E	probably benign	Het
Cluh	G	GCCAGAT	11: 74,669,538		probably benign	Het
Cmya5	G	T	13: 93,069,291	Q3357K	possibly damaging	Het
Col6a2	T	G	10: 76,606,209		probably null	Het
Cyp2j9	T	A	4: 96,577,652	T315S	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,894,263		probably null	Het
Dnah6	T	A	6: 73,118,057	Y2181F	probably benign	Het
Dnah7b	A	G	1: 46,373,261	D4010G	possibly damaging	Het
E4f1	CCG	CCGACG	17: 24,455,195		probably benign	Het
Ep300	A	T	15: 81,586,571		probably benign	Het
Fam234a	A	G	17: 26,218,751	V90A	probably benign	Het
Fam71e1	GGA	GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA	7: 44,500,535		probably null	Het
Gab3	TCT	TCTGCT	X: 75,000,017		probably benign	Het
Gal3st1	A	G	11: 3,998,153	Y120C	possibly damaging	Het
Gm5475	GTGGAAGGAAAGGT	G	15: 100,427,149		probably null	Het
Gm6665	T	TC	18: 31,820,377		probably null	Het
Hdlbp	T	C	1: 93,440,734	T8A	probably benign	Het
Hnrnpa2b1	T	A	6: 51,466,694	K92N	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640		probably benign	Het
Klhl10	C	G	11: 100,442,070	Q14E	probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,221,838		probably null	Het
Kmt2b	CC	CCTCCTGC	7: 30,586,382		probably benign	Het
Krt2	A	G	15: 101,817,968	I45T	unknown	Het
Ksr2	T	C	5: 117,555,218	S244P	probably benign	Het
Lama5	A	T	2: 180,196,178	M915K	probably benign	Het
Lrp1b	A	C	2: 41,770,846	H197Q		Het
Lrrc1	T	C	9: 77,452,631	E293G	probably damaging	Het
Med12l	AACA	AACAACA	3: 59,275,958		probably benign	Het
Mgam	T	A	6: 40,685,309	Y1179N	probably damaging	Het
Mgat4c	A	G	10: 102,389,067	I381V	probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511		probably benign	Het
Myc	A	T	15: 61,985,823		probably benign	Het
Nipbl	A	G	15: 8,358,934	S401P	probably damaging	Het
Nlrp9c	A	T	7: 26,385,224	I310N	probably benign	Het
Nwd2	C	A	5: 63,805,723	Y883*	probably null	Het
Oas1e	T	A	5: 120,794,318	T87S	possibly damaging	Het
Olfr586	A	T	7: 103,121,891	C294S	probably benign	Het
Olfr653	A	G	7: 104,580,290	M215V	probably benign	Het
Olfr885	G	A	9: 38,061,324	M1I	probably null	Het
Olfr964-ps1	GA	GATACA	9: 39,686,753		probably null	Het
Pappa	T	G	4: 65,205,045	S872R	possibly damaging	Het
Parp4	T	C	14: 56,647,349	L1295P	unknown	Het
Pcdh15	A	T	10: 74,185,410	Y152F	probably damaging	Het
Pdk1	A	T	2: 71,883,896	I217L	possibly damaging	Het
Phldb1	A	C	9: 44,697,946	C450W	probably damaging	Het
Pnmal1	C	CCATGATGCACCTGCTTCAACATCA	7: 16,961,451		probably benign	Het
Prl2c5	G	A	13: 13,185,912	G55S	probably benign	Het
Psme2b	A	T	11: 48,945,570	H183Q	probably damaging	Het
Ptms	CCTCCTC	CCTCCTCCTC	6: 124,914,449		probably benign	Het
Rln3	T	C	8: 84,043,302	T73A	probably benign	Het
Rprd1a	T	A	18: 24,530,005	Q21L	probably damaging	Het
Sept3	A	T	15: 82,284,461	D155V	probably damaging	Het
Sh3rf3	T	A	10: 58,813,768	V65E	probably damaging	Het
Shank3	A	G	15: 89,500,390	N155S	probably benign	Het
Shox2	G	T	3: 66,973,813	P278Q	probably damaging	Het
Slc1a1	T	C	19: 28,879,155		probably null	Het
Slc39a10	A	T	1: 46,810,015	F814I	probably damaging	Het
Slc5a1	T	C	5: 33,133,429	I119T	probably damaging	Het
Slc6a13	T	C	6: 121,324,351		probably null	Het
Spta1	A	G	1: 174,213,444	D1270G	probably benign	Het
Spta1	T	A	1: 174,217,903	F1542L	probably damaging	Het
Tacc3	T	A	5: 33,661,224	M1K	probably null	Het
Tax1bp1	T	C	6: 52,721,354	V17A	probably damaging	Het
Thegl	CAGCGATCCTCCCCAGTCCCGCAAGGC	CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC	5: 77,016,400		probably benign	Het
Tmem156	T	A	5: 65,091,547	E3D	probably benign	Het
Tmem209	T	A	6: 30,487,418	M530L	probably benign	Het
Trpc2	A	G	7: 102,096,226	D883G	unknown	Het
Tsen34	GGAGCCAAAAT	G	7: 3,695,796		probably null	Het
Uhrf2	T	C	19: 30,086,391	Y585H	probably damaging	Het
Vmn1r26	T	A	6: 58,008,720	K161N	probably benign	Het
Vmn1r29	A	G	6: 58,307,543	S83G	probably benign	Het
Vps13b	G	T	15: 35,925,406	W3829L	probably null	Het
Vwce	G	A	19: 10,653,085	G503R	probably damaging	Het
Zc3h11a	T	C	1: 133,626,997	E415G	possibly damaging	Het
Zc3h14	T	A	12: 98,780,282		probably null	Het
Zfp119b	A	T	17: 55,939,499	M229K	probably benign	Het
Zfp384	CCAAGCTCAAGC	CCAAGC	6: 125,036,455		probably benign	Het
Zfp384	GGCCCAGGC	GGCCCAGGCCCACGCCCAGGC	6: 125,036,488		probably benign	Het
Zyx	T	A	6: 42,357,396	L518Q	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
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
X0066:Abca16	UTSW	7	120503386	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCCTCAACTGAGATGTCTC -3'
(R):5'- TGACCAAACGGTTTGCTTTC -3'

Sequencing Primer
(F):5'- ATTCATTTTACATCCCATTCCCAATC -3'
(R):5'- TCGAAAGACAAAGCTCTTC -3'

Posted On

2019-12-04