Mutagenetix > Incidental Mutation

Incidental Mutation 'R9674:Abca16'

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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 #

R9674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 120475445 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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	C	T	10: 82,284,196	V4327I	possibly damaging	Het
Aadacl2	A	T	3: 60,007,051	D25V	possibly damaging	Het
Adam9	T	A	8: 24,950,998	T820S	possibly damaging	Het
Adamts6	G	A	13: 104,426,940	V647I	probably benign	Het
Afap1l2	T	A	19: 56,933,763	R14S	probably damaging	Het
Aff3	C	T	1: 38,209,783	V748I	probably damaging	Het
Aldh5a1	T	C	13: 24,926,055	I166V	probably benign	Het
Alx4	G	T	2: 93,677,513	L384F	probably damaging	Het
Ank3	T	A	10: 69,988,719	S1073T		Het
Ankrd50	A	G	3: 38,452,425	C275R	unknown	Het
Apol11a	G	A	15: 77,517,147	S278N	possibly damaging	Het
Astn2	T	A	4: 65,542,726	D1057V	probably damaging	Het
Atp11a	T	C	8: 12,827,525	V317A	probably benign	Het
Cacna1i	A	G	15: 80,380,428	T1486A	probably damaging	Het
Cadps	A	G	14: 12,454,291	F1076L	probably damaging	Het
Cct6b	T	C	11: 82,755,012	T154A	probably damaging	Het
Cfap69	A	G	5: 5,647,021	F92L	possibly damaging	Het
Cyp19a1	A	T	9: 54,166,857	I471K	possibly damaging	Het
Cyp26a1	T	A	19: 37,701,278	M474K	probably damaging	Het
Cyp4a12a	T	C	4: 115,328,959	S439P	probably benign	Het
Cyp4f37	T	A	17: 32,627,867		probably null	Het
Dgki	A	G	6: 37,050,222	Y395H	probably damaging	Het
Dlg1	T	C	16: 31,791,762	V287A	probably damaging	Het
Dlx2	C	T	2: 71,546,152	G81S	possibly damaging	Het
Dnah8	G	T	17: 30,779,138	K3448N	possibly damaging	Het
Dnhd1	C	T	7: 105,714,222	P3997L	probably damaging	Het
Drosha	C	G	15: 12,890,084	D910E	probably damaging	Het
Dscam	A	G	16: 96,640,836	V1597A	probably benign	Het
Eif1b	A	G	9: 120,494,199	K42E	possibly damaging	Het
Enpp2	C	A	15: 54,952,739	G10W	unknown	Het
Exd2	A	G	12: 80,489,598	N334S	probably benign	Het
Glt6d1	T	A	2: 25,794,370	N208I	probably benign	Het
Gm13023	T	A	4: 143,793,592	H135Q	probably benign	Het
Grin2a	T	A	16: 9,653,401	K668*	probably null	Het
Grm1	A	G	10: 10,733,284	V535A	possibly damaging	Het
Hey2	A	T	10: 30,834,417	D113E	probably benign	Het
Hist1h2ad	A	G	13: 23,574,688	D73G	possibly damaging	Het
Ighm	T	A	12: 113,421,519	I274F		Het
Ighv1-58	G	T	12: 115,312,227	T97K	probably damaging	Het
Igkv6-20	T	C	6: 70,335,868	H107R	possibly damaging	Het
Il15	C	T	8: 82,343,309	G42D	probably damaging	Het
Jakmip2	T	A	18: 43,571,896	M347L	probably benign	Het
Kcnh7	T	C	2: 62,764,716	Y670C	probably damaging	Het
Ktn1	G	C	14: 47,684,756	C458S	possibly damaging	Het
Lama5	C	T	2: 180,198,474		probably null	Het
Lce1i	T	C	3: 92,777,806	Q21R	unknown	Het
Lmo7	A	T	14: 101,840,904	E81D	probably damaging	Het
Lrrc4b	A	T	7: 44,462,428	I575F	probably damaging	Het
Mmrn1	C	T	6: 60,971,088	Q272*	probably null	Het
Nbea	A	T	3: 56,058,762	D426E	probably damaging	Het
Neto1	G	A	18: 86,473,702	V243M	probably damaging	Het
Notch1	G	A	2: 26,471,296	R1061C	probably damaging	Het
Olfr1002	T	G	2: 85,648,249	Q24P	possibly damaging	Het
Olfr492	A	T	7: 108,323,064	I204N	probably benign	Het
Osgin1	A	G	8: 119,445,760	D431G	possibly damaging	Het
Ppp4r1	A	G	17: 65,833,132	D675G	probably damaging	Het
Prkdc	T	A	16: 15,715,955	H1552Q	probably damaging	Het
Rbfox1	T	C	16: 7,353,021	F282L	probably benign	Het
Ret	T	C	6: 118,153,869	D1111G	probably damaging	Het
Rnf224	A	T	2: 25,236,318	Y8N	probably benign	Het
Rtl1	G	T	12: 109,592,590	H938Q	possibly damaging	Het
Sec23ip	T	G	7: 128,778,463	D867E	probably damaging	Het
Sema3f	A	T	9: 107,689,748	L194Q	possibly damaging	Het
Sfmbt1	C	T	14: 30,773,894	R45C	probably damaging	Het
Slc7a4	T	C	16: 17,574,344	I409V	probably benign	Het
Slco6c1	T	A	1: 97,119,840	D246V	probably damaging	Het
Smap2	C	T	4: 120,969,548	M426I	probably benign	Het
Tmem184b	T	A	15: 79,365,324	T315S	probably benign	Het
Trpm4	A	T	7: 45,333,387	D30E	possibly damaging	Het
Ttc7b	T	A	12: 100,466,294	K154N	probably benign	Het
Vps13b	T	A	15: 35,607,234	H1104Q	probably damaging	Het
Wnk4	T	A	11: 101,276,048	L1010Q	unknown	Het
Xpo6	T	A	7: 126,124,528	H537L	probably benign	Het
Xrn1	A	T	9: 95,973,592	Y314F	probably damaging	Het
Xrn1	A	T	9: 95,973,594	I315F	possibly damaging	Het
Zap70	T	C	1: 36,771,069	Y87H	probably benign	Het
Zbtb4	T	C	11: 69,779,147	Y899H	probably damaging	Het
Zcchc7	T	A	4: 44,931,418	H202Q	possibly damaging	Het
Zeb2	A	G	2: 45,001,713	Y276H	probably damaging	Het
Zfp867	T	G	11: 59,465,024	Q68P	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
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
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'- ATCACCCTAAAGGCAATTTCTGGG -3'
(R):5'- TCAAGTACTGCAGAACAAAATGGTG -3'

Sequencing Primer
(F):5'- CTAAAGGCAATTTCTGGGTGCTTTTC -3'
(R):5'- TCCCATTGATGGCCAACTAGG -3'

Posted On

2022-10-06