Mutagenetix > Incidental Mutation

Incidental Mutation 'R9305:Abca16'

705164

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 #

R9305 (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 120527766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1227 (I1227V)

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: I1226V

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: I1226V

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: I1227V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: I1227V

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: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	A	T	2: 85,500,305	C219*	probably null	Het
4932438A13Rik	A	G	3: 37,044,820	I1277V		Het
Abhd8	A	G	8: 71,458,504	V261A	possibly damaging	Het
Adam34	A	T	8: 43,651,379	C410S	probably damaging	Het
Adamts17	T	C	7: 66,839,897	L21P	probably damaging	Het
Adgre1	A	G	17: 57,441,275	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811	V450M	probably damaging	Het
Apob	A	G	12: 8,008,053	I2178M	probably benign	Het
Atp9a	A	T	2: 168,675,243	I390N	probably benign	Het
Cacng2	T	G	15: 78,013,342	Y89S	possibly damaging	Het
Capn10	T	C	1: 92,943,943		probably null	Het
Casq2	A	G	3: 102,145,384	D404G	unknown	Het
Cdh9	T	A	15: 16,832,052	Y342N	probably damaging	Het
Cenpf	T	C	1: 189,660,074		probably null	Het
Cep295nl	G	A	11: 118,333,940	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,389,914	S214A	probably benign	Het
Clstn2	T	A	9: 97,461,484	I637F	probably damaging	Het
Csmd1	G	T	8: 15,961,532	T2507K	probably benign	Het
Ddx55	C	T	5: 124,566,949	S427F	probably damaging	Het
Dpysl5	T	C	5: 30,791,615	W405R	probably damaging	Het
Esyt1	A	G	10: 128,519,519	V451A	possibly damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Foxa3	A	G	7: 19,015,036	L55P	possibly damaging	Het
Gng2	G	T	14: 19,875,893	H44N	probably damaging	Het
Hps5	G	A	7: 46,789,195	T38I	possibly damaging	Het
Igf2	G	A	7: 142,654,416	R64C	probably damaging	Het
Klb	T	A	5: 65,348,645	Y78*	probably null	Het
Krt32	T	C	11: 100,081,203	T440A	probably benign	Het
Kynu	T	A	2: 43,679,756	F350Y	probably damaging	Het
Lrp1b	A	T	2: 41,728,562	S281T		Het
Lrrc43	C	T	5: 123,508,156	A657V	unknown	Het
Mief2	C	A	11: 60,731,216	P204Q	possibly damaging	Het
Morc3	G	T	16: 93,870,414	R560L	probably benign	Het
Olfr131	A	T	17: 38,082,738	V80D	probably damaging	Het
Olfr898	A	C	9: 38,349,085	M1L	probably benign	Het
Orc3	G	A	4: 34,607,181	R50*	probably null	Het
Osbpl6	T	A	2: 76,548,372	D124E	probably damaging	Het
Parp4	TG	T	14: 56,595,333		probably null	Het
Parp4	T	C	14: 56,614,767		probably null	Het
Pcdhb18	A	C	18: 37,491,951	H778P	probably benign	Het
Polg	A	T	7: 79,456,112	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,645,960	R370L	possibly damaging	Het
Prune2	A	G	19: 17,120,261	D1043G	probably benign	Het
Rpl6	T	C	5: 121,208,453	S206P	possibly damaging	Het
Serpina3i	T	C	12: 104,268,622	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,599,039		probably null	Het
Stx11	A	T	10: 12,941,820	D53E	probably benign	Het
Thoc3	C	T	13: 54,460,185	W315*	probably null	Het
Tmem26	G	A	10: 68,723,986	W29*	probably null	Het
Togaram2	A	G	17: 71,689,413	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,232,786	L524S	probably damaging	Het
Usp43	T	C	11: 67,876,519	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,048,177	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,385,999	R253Q	probably damaging	Het
Zfc3h1	A	G	10: 115,419,866	D1474G	probably benign	Het
Zfp873	T	C	10: 82,060,680	F415S	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
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'- ACCAGTGGTGCTTTCTCAAGG -3'
(R):5'- TCTACTCAAATGGAAGAAAACCAGG -3'

Sequencing Primer
(F):5'- TTGTCTGAGAATCGCTTAACCAC -3'
(R):5'- GGAAGAAAACCAGGTTTTTCTTGC -3'

Posted On

2022-03-25