Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4802001:Abca16'

556733

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4802001 (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 120540128 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1461 (D1461G)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056042
AA Change: D1460G

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: D1460G

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: D1461G

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: D1461G

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: 93.6%
3x: 91.0%
10x: 85.4%
20x: 73.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 120,011,346	D741E	probably benign	Het
Adam6a	G	T	12: 113,545,458	D484Y	probably damaging	Het
Akap5	T	C	12: 76,329,932	Y713H	probably damaging	Het
AW554918	A	G	18: 25,340,075	E312G	possibly damaging	Het
Car4	G	A	11: 84,964,405	A157T	probably damaging	Het
Chst9	A	T	18: 15,452,792	M238K	probably benign	Het
Ctbp2	G	A	7: 132,988,245	H397Y	possibly damaging	Het
Cyp3a59	A	G	5: 146,102,801	M295V	probably benign	Het
Daglb	T	C	5: 143,503,048	Y586H	probably benign	Het
Ehbp1l1	G	T	19: 5,719,575	P567T	possibly damaging	Het
Emilin2	A	G	17: 71,273,469	I754T	probably damaging	Het
Esyt2	G	A	12: 116,365,837	A672T	probably benign	Het
Evx1	G	T	6: 52,314,190	E116*	probably null	Het
Exph5	T	C	9: 53,374,978	S1120P	probably damaging	Het
Fam184a	A	T	10: 53,684,354	L515*	probably null	Het
Flt4	T	A	11: 49,633,169	D525E	probably benign	Het
Galt	T	C	4: 41,756,764	W135R	probably damaging	Het
Ifitm6	A	T	7: 141,016,735	C42S	probably damaging	Het
Ift172	A	G	5: 31,285,266	S186P	probably benign	Het
Kcnk3	A	G	5: 30,622,368	E254G	probably damaging	Het
Kmt2b	A	G	7: 30,579,571	S1509P	probably damaging	Het
Ky	T	A	9: 102,537,773	S295T	probably benign	Het
Lrba	T	A	3: 86,664,494	Y2368*	probably null	Het
Mtmr4	T	A	11: 87,611,127	V669E	probably benign	Het
Myh10	C	T	11: 68,765,092	R471C	probably damaging	Het
Nav1	G	A	1: 135,452,933	T1416I	unknown	Het
Nrip1	A	C	16: 76,293,269	S467A	probably damaging	Het
Ntrk1	T	A	3: 87,788,634	N190Y	probably damaging	Het
Olfr193	A	C	16: 59,110,601	M3R	probably benign	Het
Olfr294	A	T	7: 86,616,555	L30Q	probably null	Het
Pdxp	A	G	15: 78,918,411	S282G	probably damaging	Het
Phtf2	A	T	5: 20,801,906	S220T	probably damaging	Het
Piezo2	A	T	18: 63,024,469	V2390E	probably damaging	Het
Pop1	T	G	15: 34,529,083	L783R	probably benign	Het
Prf1	G	A	10: 61,300,193	A83T	probably benign	Het
Rab4b	A	G	7: 27,175,842	V50A	probably benign	Het
Rtn1	T	A	12: 72,304,326	T370S	probably benign	Het
Sdr16c5	T	A	4: 4,012,423	I123F	probably damaging	Het
Smg6	T	A	11: 75,156,165	V1228D	probably damaging	Het
Smim19	A	G	8: 22,473,523	V23A	probably benign	Het
Sox13	A	T	1: 133,386,258	I346N	probably damaging	Het
Tap1	T	A	17: 34,193,191	Y457N	probably damaging	Het
Tbck	C	T	3: 132,752,666	P686S	probably damaging	Het
Tcof1	A	G	18: 60,831,938	S570P	unknown	Het
Tmc5	A	T	7: 118,672,226	M921L	probably benign	Het
Ttc6	A	G	12: 57,725,676	Y1594C	possibly damaging	Het
Virma	T	A	4: 11,546,008	H1615Q	probably damaging	Het
Vmn1r19	T	A	6: 57,405,052	Y197N	probably damaging	Het
Vps13c	T	C	9: 67,937,786	F2051L	probably damaging	Het
Wdr6	C	T	9: 108,574,566	C706Y	probably damaging	Het
Zfand4	A	G	6: 116,284,775	N100D	probably damaging	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
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
R7923:Abca16	UTSW	7	120475466	missense	probably benign	0.00
R8018:Abca16	UTSW	7	120533643	missense	probably benign	0.04
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'- CATGCTGTACCACATCCCTATGAG -3'
(R):5'- CTGATGTCTGAGCTTGGCAG -3'

Sequencing Primer
(F):5'- GATTTATATTCTGTGGAAGAGCTGAC -3'
(R):5'- ACTGCCTCCATGTGCCAGAG -3'

Posted On

2019-06-07