Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Abca16'

345630

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 #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120436697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 334 (F334L)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (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

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
4930435E12Rik	A	G	16: 38,828,018	V243A	probably benign	Het
Aars2	T	A	17: 45,516,921	D555E	probably damaging	Het
Abcc4	T	A	14: 118,632,163	M186L	probably benign	Het
Agap3	T	C	5: 24,476,408	L120P	probably damaging	Het
Ak7	G	A	12: 105,713,575	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,715,979	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,570,102	D59G	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Cacna1e	A	G	1: 154,471,613	V936A	probably benign	Het
Camkv	T	C	9: 107,946,096	V107A	probably damaging	Het
Camp	T	C	9: 109,848,662	E80G	probably damaging	Het
Ccdc66	T	C	14: 27,500,420	N122S	probably damaging	Het
Cd101	G	A	3: 100,993,888	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,116,919	V323A	possibly damaging	Het
Celf2	G	T	2: 6,586,020	N279K	possibly damaging	Het
Cemip	T	C	7: 83,951,618	I932V	probably damaging	Het
Cep250	C	A	2: 155,962,053	Q28K	probably benign	Het
Ces2f	T	C	8: 104,949,964	C97R	probably damaging	Het
Cfap126	G	T	1: 171,114,058	G41C	possibly damaging	Het
Chat	T	C	14: 32,424,155	M354V	probably benign	Het
Clca4b	A	T	3: 144,927,184	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,393,576	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,567,160	W1126R	probably damaging	Het
Dgkb	T	C	12: 38,602,820	S735P	probably damaging	Het
Dlec1	T	C	9: 119,147,134		probably null	Het
Dnajc6	T	C	4: 101,611,264	F166L	probably damaging	Het
Dph5	A	G	3: 115,899,777	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,245,571	A202T	probably benign	Het
Erich3	A	T	3: 154,764,738	D136V	unknown	Het
Exoc2	T	C	13: 30,882,268	N475S	probably benign	Het
Fam160a1	T	C	3: 85,741,180	M26V	probably damaging	Het
Fam217a	T	C	13: 34,911,302	D310G	probably damaging	Het
Fam53a	C	T	5: 33,600,663	S372N	probably benign	Het
Fbn2	C	G	18: 58,053,733	G1699R	probably damaging	Het
Fbxo46	T	C	7: 19,135,564	V36A	probably benign	Het
G6pc	A	G	11: 101,372,741	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810	F161L	probably damaging	Het
Gif	A	C	19: 11,752,190	D171A	probably damaging	Het
Gja1	T	C	10: 56,388,229	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178	V86A	probably benign	Het
Hmcn1	A	T	1: 150,738,645	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,441,300	S30T	possibly damaging	Het
Itgb4	A	G	11: 116,005,722	T1436A	probably damaging	Het
Itk	T	A	11: 46,336,515	Q427L	probably benign	Het
Klhdc4	T	C	8: 121,799,527	E291G	probably damaging	Het
Map4	T	A	9: 110,052,819	S250R	possibly damaging	Het
Mnt	T	A	11: 74,836,459	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Musk	A	T	4: 58,301,625	I128F	probably damaging	Het
Myh4	G	A	11: 67,250,310	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,136,388	F220I	probably damaging	Het
Npas3	A	G	12: 54,044,578	H305R	probably damaging	Het
Nrcam	A	T	12: 44,591,056	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,432,918	D189E	probably benign	Het
Nuf2	A	G	1: 169,506,114	L331P	probably damaging	Het
Nup214	C	T	2: 31,997,965	T646I	probably benign	Het
Olfr112	T	C	17: 37,564,185	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,744,725	E1096G	probably damaging	Het
Pgm1	T	A	5: 64,107,727	F364I	probably benign	Het
Pikfyve	A	G	1: 65,234,262	N612S	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Ppp3cb	T	C	14: 20,520,646	N339S	possibly damaging	Het
Prkd2	G	T	7: 16,843,648		probably benign	Het
Rnf133	T	C	6: 23,649,042	E296G	possibly damaging	Het
Sav1	A	T	12: 69,984,321	D142E	probably benign	Het
Scn3b	C	A	9: 40,288,423	P212T	probably damaging	Het
Sel1l	A	T	12: 91,833,053		probably null	Het
Sept9	A	G	11: 117,360,484	K543E	probably damaging	Het
Serpinb12	T	A	1: 106,949,153	D66E	probably benign	Het
Slc35e2	T	C	4: 155,617,649	F290S	probably benign	Het
Snrpa	A	G	7: 27,195,533	M1T	probably null	Het
Soga1	T	C	2: 157,039,924	K736R	probably benign	Het
Sptlc3	G	A	2: 139,636,680	V520I	probably benign	Het
Srpk3	A	G	X: 73,774,941	H79R	possibly damaging	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Stradb	G	A	1: 58,993,572	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,782,087	K10R	probably benign	Het
Susd4	A	G	1: 182,858,460	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,325,975	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,797,032	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,284,374	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946	D671G	probably benign	Het
Traj37	T	C	14: 54,181,539		probably benign	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,346,399	L420Q	probably benign	Het
Wdr24	T	A	17: 25,828,207		probably null	Het
Wdr81	T	A	11: 75,445,658	Q516L	probably damaging	Het
Zfp516	A	G	18: 82,956,039	T121A	probably benign	Het
Zmat1	A	T	X: 134,972,945	S566T	probably damaging	Homo

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
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
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'- AAGACTTTAACTTCCTGTCTTTGGG -3'
(R):5'- AGAATTTACTGGTCTAGAAACGAGC -3'

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

Posted On

2015-09-25