Mutagenetix > Incidental Mutation

Incidental Mutation 'R8461:Abca16'

655276

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 #

R8461 (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 C at 120436695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 334 (F334L)

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: F334L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: F334L

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: F334L

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: F334L

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
1700067P10Rik	G	T	17: 48,090,329	E45*	probably null	Het
4921539E11Rik	T	C	4: 103,255,515	D132G	probably benign	Het
Ache	T	C	5: 137,290,320	F96S	probably damaging	Het
Actg1	T	C	11: 120,348,184	T27A	unknown	Het
Ankrd27	T	C	7: 35,627,486	L752P	probably damaging	Het
Atp1a1	T	A	3: 101,589,089	T417S	probably benign	Het
Atp6v0a1	T	G	11: 101,044,574	L653R	possibly damaging	Het
Aurkb	T	C	11: 69,050,901	V293A	probably damaging	Het
C2cd5	A	T	6: 143,035,076	D654E	probably damaging	Het
Cacna1s	T	C	1: 136,073,702	V297A	possibly damaging	Het
Catsperg2	T	C	7: 29,705,319	D773G	possibly damaging	Het
Ccdc187	A	G	2: 26,293,802	L62P	probably damaging	Het
Cdh2	A	G	18: 16,650,465	V69A	probably benign	Het
D430041D05Rik	A	G	2: 104,167,935	V1156A	possibly damaging	Het
Defb37	G	A	8: 18,986,370	H45Y	unknown	Het
Dgke	T	C	11: 89,048,993	M367V	possibly damaging	Het
Dnah1	T	C	14: 31,305,958	K640R	probably benign	Het
Gm5478	A	T	15: 101,646,217	L148Q	probably damaging	Het
Hhla1	A	T	15: 65,923,874	S494R	probably benign	Het
Kcne4	G	A	1: 78,817,716	S27N	probably benign	Het
Klhdc7b	A	T	15: 89,387,621	H244L	probably damaging	Het
Lrrc40	T	C	3: 158,058,734	S429P	possibly damaging	Het
Map3k21	A	T	8: 125,944,622	D883V	probably benign	Het
Med4	T	C	14: 73,518,028	S259P	unknown	Het
Mrm3	T	C	11: 76,244,332	I123T	probably damaging	Het
Mrpl1	T	A	5: 96,213,787	V11D	probably damaging	Het
Myl1	G	A	1: 66,944,835	P24L	unknown	Het
Necap2	T	C	4: 141,070,220	K168R	probably damaging	Het
Nnt	A	G	13: 119,368,502	S559P	unknown	Het
Nox4	T	C	7: 87,317,271	F197L	probably damaging	Het
Nup93	T	C	8: 94,281,335		probably null	Het
Nxph2	T	C	2: 23,321,517	V10A	unknown	Het
Olfr1	T	A	11: 73,395,156	I289F	probably damaging	Het
Olfr1085	G	A	2: 86,657,546	T304I	probably benign	Het
Olfr251	T	A	9: 38,378,481	V194D	probably damaging	Het
P2ry2	G	T	7: 100,998,688	R137S	possibly damaging	Het
Plxnb3	T	C	X: 73,759,497	Y324H	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Ppme1	T	C	7: 100,371,805	S7G	probably benign	Het
Rabep1	T	A	11: 70,884,855	M85K	possibly damaging	Het
Ranbp2	T	C	10: 58,476,394	Y979H	probably damaging	Het
Rapgef5	T	C	12: 117,714,109	S360P	probably benign	Het
Rbm33	T	A	5: 28,387,972	H623Q	probably damaging	Het
Rev1	G	T	1: 38,083,787	T450K	possibly damaging	Het
Sec23ip	T	A	7: 128,772,202	L716Q	probably benign	Het
Sp2	T	C	11: 96,955,913	T535A	possibly damaging	Het
Syne1	A	G	10: 5,061,463	S61P	probably benign	Het
Tcf4	T	C	18: 69,465,430	V72A	probably benign	Het
Tmem131	G	A	1: 36,794,821	S1726F	probably damaging	Het
Trim13	T	C	14: 61,605,472	Y313H	probably benign	Het
Ttn	A	G	2: 76,781,093	V17365A	possibly damaging	Het
Uap1l1	G	A	2: 25,365,410	A69V	probably benign	Het
Upp2	A	G	2: 58,780,056	D258G	probably benign	Het
Vmn1r44	A	T	6: 89,893,719	H149L	possibly damaging	Het
Zbtb49	T	C	5: 38,201,109	D600G	probably benign	Het
Zfp869	G	T	8: 69,707,655	H89Q	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
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'- TCTCAGCAAGACTTTAACTTCCTG -3'
(R):5'- GAATTTACTGGTCTAGAAACGAGC -3'

Sequencing Primer
(F):5'- AAGACTTTAACTTCCTGTCTTTGGG -3'
(R):5'- TTACTGGTCTAGAAACGAGCAAAAAG -3'

Posted On

2020-10-20