Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Abca16'

676916

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 #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120475571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 612 (C612Y)

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: C611Y

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: C611Y

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: C612Y

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: C612Y

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: 98.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

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

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,559,876	T371A	probably benign	Het
Akap9	T	C	5: 3,961,279	S661P		Het
Anxa11	C	T	14: 25,874,263	R233C	probably damaging	Het
Capza3	A	C	6: 140,041,795	D40A	probably damaging	Het
Caskin1	C	A	17: 24,499,299	N294K	probably damaging	Het
Cdh1	T	C	8: 106,666,272	V796A	probably benign	Het
Cped1	A	T	6: 22,119,579	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,115,678	V278D	probably damaging	Het
Ddx60	A	C	8: 62,021,309	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,680,725	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,113,912	N1282S	probably benign	Het
Dnah11	C	T	12: 118,126,815	V1104M	probably benign	Het
Dot1l	A	G	10: 80,785,595	E630G	probably damaging	Het
Dppa4	C	A	16: 48,287,936	T28K		Het
Dusp5	T	A	19: 53,541,314	S383T	probably benign	Het
Eef2k	C	T	7: 120,873,325	A87V	probably damaging	Het
Epha1	T	C	6: 42,361,027	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,343,838		probably null	Het
Fam151b	T	A	13: 92,468,122	M120L	probably benign	Het
Fez2	T	C	17: 78,381,622	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,295,774	H886N	probably benign	Het
Galnt17	T	C	5: 130,877,797	H511R	probably benign	Het
Gm17727	T	A	9: 35,778,088		probably benign	Het
Gm8773	A	C	5: 5,575,379	D25A	possibly damaging	Het
Grpel1	C	A	5: 36,469,472	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,694,985		probably null	Het
Hmcn1	C	A	1: 150,649,972	L3333F	probably damaging	Het
Il21r	A	T	7: 125,632,326	T309S	probably benign	Het
Itgal	G	A	7: 127,330,369	V1153M	probably benign	Het
Kdf1	G	A	4: 133,530,343	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,779,284	R151L	probably benign	Het
Lgi3	T	A	14: 70,532,842	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,853,040	H731R	probably benign	Het
Lrp5	A	T	19: 3,591,015	S1482T	probably damaging	Het
Meis2	T	C	2: 116,058,635	D212G	probably benign	Het
Mrgpra9	A	G	7: 47,235,494	C142R	possibly damaging	Het
Mrgprf	A	G	7: 145,308,262	H187R	probably benign	Het
Mvd	A	G	8: 122,437,825		probably null	Het
Neb	T	C	2: 52,206,987	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,151,350	M168K	probably benign	Het
Nr1h4	A	G	10: 89,483,489	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,504,890	I1133T	probably benign	Het
Numa1	T	C	7: 102,001,477	Y1472H	probably benign	Het
Olfr1329	A	G	4: 118,917,374	V31A	probably benign	Het
Olfr1380	G	A	11: 49,564,382	V154M	probably benign	Het
Olfr411	T	C	11: 74,346,645	D313G	probably benign	Het
Olfr530	A	G	7: 140,372,785	V275A	probably benign	Het
Olfr652	A	G	7: 104,564,412	M64V	possibly damaging	Het
Pcdha6	G	T	18: 36,968,431	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,531,489	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,371,269	R322H	probably damaging	Het
Sgtb	T	C	13: 104,121,538		probably null	Het
Skint6	T	C	4: 112,815,519	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,685,537	E646G	probably damaging	Het
Speg	G	T	1: 75,401,151	R851L	possibly damaging	Het
Spns3	T	G	11: 72,539,086	D172A	probably damaging	Het
Srgap3	A	G	6: 112,723,137	V984A	probably benign	Het
Syne1	A	T	10: 5,273,639	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,003,362	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,588	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,443,787	*582G	probably null	Het
Trip13	C	A	13: 73,929,676	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,819,963	V1055E	probably damaging	Het
Utrn	A	G	10: 12,547,993	I2T	possibly damaging	Het
V1rd19	T	A	7: 24,003,656	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,837,185	G762V	probably benign	Het
Wdr66	C	T	5: 123,324,375	P1249L	probably damaging	Het
Zfp874b	T	C	13: 67,474,022	K386E	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
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
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'- ATAGGAGCTTTCAAGTGCATTG -3'
(R):5'- CTGTCAGGAGATCTTGGATCAAG -3'

Sequencing Primer
(F):5'- TCGTTTTGCTGCTACCAG -3'
(R):5'- TCCCATTGATGGCCAACTAGG -3'

Posted On

2021-07-15