Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01322:Abca16'

278280

Institutional Source

Australian Phenomics Network (link to record)

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01322

Quality Score

Status

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120439199 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 368 (L368Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056042
AA Change: L368Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: L368Q

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 damaging
Transcript: ENSMUST00000120490
AA Change: L368Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: L368Q

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,446,782		probably null	Het
Ano7	T	A	1: 93,395,508	V497D	probably benign	Het
B4gat1	T	C	19: 5,040,009	Y345H	probably damaging	Het
Bckdha	T	A	7: 25,658,707	R12W	possibly damaging	Het
Bcl7c	T	A	7: 127,707,436	N93Y	probably damaging	Het
Cc2d2a	C	A	5: 43,689,003	T368K	probably benign	Het
Chek1	G	A	9: 36,718,421	Q210*	probably null	Het
Chrdl2	A	G	7: 100,017,041	Y56C	probably damaging	Het
Cspg4	T	A	9: 56,898,588	F2228I	probably damaging	Het
Dnah7a	T	C	1: 53,434,046	M3474V	probably benign	Het
Dph7	T	C	2: 24,965,617	S143P	possibly damaging	Het
Ehbp1	T	A	11: 22,089,636	K821N	probably damaging	Het
Eomes	T	C	9: 118,484,830	S648P	probably benign	Het
Fam20a	A	G	11: 109,682,912	V215A	probably damaging	Het
Fer1l4	T	A	2: 156,020,339		probably null	Het
Frem2	A	G	3: 53,541,038	V2319A	probably benign	Het
Gtf3c4	T	C	2: 28,833,572	D575G	probably benign	Het
Ifit1bl2	A	G	19: 34,619,004	V404A	probably benign	Het
Kcnf1	T	C	12: 17,175,348	M291V	probably benign	Het
Klra1	T	A	6: 130,364,261	I250F	probably benign	Het
Klra4	T	A	6: 130,062,022	T136S	probably benign	Het
Mcrs1	A	T	15: 99,243,385	I399N	probably damaging	Het
Neo1	T	C	9: 58,907,085	E866G	possibly damaging	Het
Notch3	T	C	17: 32,144,471	D1206G	probably damaging	Het
Olfr1427	A	C	19: 12,099,405	V78G	probably benign	Het
Olfr1443	A	C	19: 12,680,749	I214L	probably benign	Het
Olfr290	T	A	7: 84,916,382	V201E	probably damaging	Het
Olfr299	T	A	7: 86,466,272	I287N	probably damaging	Het
Olfr479	A	G	7: 108,054,981		probably benign	Het
Olfr800	A	G	10: 129,660,126	T107A	probably benign	Het
Pnkd	A	G	1: 74,351,557	N336D	probably damaging	Het
Prag1	T	C	8: 36,103,934	V557A	probably benign	Het
Ptgfr	A	C	3: 151,835,686	S62A	probably benign	Het
Smc2	A	G	4: 52,450,842	Y220C	probably damaging	Het
Sufu	G	A	19: 46,450,943	E246K	probably damaging	Het
Sult2a1	T	A	7: 13,832,679	R124*	probably null	Het
Sult4a1	T	A	15: 84,086,616	Y196F	possibly damaging	Het
Trim15	G	A	17: 36,865,083	R191W	probably damaging	Het
Ttn	A	G	2: 76,942,975	V2361A	possibly damaging	Het
Usp16	T	C	16: 87,466,276	V122A	possibly damaging	Het
Vmn1r122	T	A	7: 21,134,111	K6N	probably benign	Het
Vmn1r34	G	A	6: 66,636,915	Q280*	probably null	Het
Vmn2r45	T	A	7: 8,481,333	H491L	possibly damaging	Het
Wdpcp	T	C	11: 21,711,949	L407P	probably damaging	Het
Zfp157	T	C	5: 138,447,578	I65T	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
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
RF020:Abca16	UTSW	7	120533657	missense	possibly damaging	0.90
X0066:Abca16	UTSW	7	120503386	missense	probably benign	0.00

Posted On

2015-04-16