Mutagenetix > Incidental Mutation

Incidental Mutation 'R7571:Abca16'

585832

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 #

R7571 (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 T at 120519988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 985 (N985I)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000056042
AA Change: N984I

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: N984I

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: N985I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: N985I

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: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	T	5: 30,482,158	E143V	possibly damaging	Het
Abi3bp	T	A	16: 56,630,982		probably null	Het
Acad12	A	T	5: 121,607,194	Y309*	probably null	Het
Acadsb	G	T	7: 131,443,554	R405L	probably damaging	Het
Acan	G	A	7: 79,086,267	V154M	probably damaging	Het
Adam22	G	A	5: 8,082,160	R894*	probably null	Het
Ahnak	A	T	19: 9,000,786	K90*	probably null	Het
Ak4	T	C	4: 101,460,542	I103T	probably benign	Het
Ap4e1	C	T	2: 127,019,336	L132F	probably damaging	Het
Apol7b	C	T	15: 77,423,477	V273I	probably benign	Het
Arhgef37	T	A	18: 61,504,332	I420F	probably damaging	Het
Atg13	C	T	2: 91,680,342		probably null	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Cabin1	A	T	10: 75,646,666	S2148T	probably damaging	Het
Cacna1i	T	C	15: 80,375,336	V1269A	probably damaging	Het
Cdipt	T	C	7: 126,979,622	I195T	probably benign	Het
Ces2b	A	T	8: 104,835,009	H245L	probably damaging	Het
Clstn1	T	G	4: 149,646,287	M825R	probably benign	Het
Cntn3	G	A	6: 102,278,403	T178I	probably damaging	Het
Col7a1	A	G	9: 108,982,707	M2789V	probably null	Het
Col9a2	A	T	4: 121,039,784	I24F	unknown	Het
Cpne2	T	C	8: 94,551,780	M134T	probably benign	Het
Cpt1b	A	G	15: 89,421,343		probably null	Het
Crocc	T	C	4: 141,046,049		probably null	Het
Cts8	T	C	13: 61,248,167	Y330C	probably damaging	Het
Cwc22	T	C	2: 77,917,067	D434G	probably benign	Het
Cyp3a13	T	C	5: 137,898,863	I396M	possibly damaging	Het
D430042O09Rik	C	T	7: 125,708,021		probably benign	Het
D5Ertd577e	A	T	5: 95,482,960	N232I	probably damaging	Het
Ddr2	A	T	1: 170,001,851	I278N	probably benign	Het
Dnaaf5	A	G	5: 139,170,208	E548G	possibly damaging	Het
Dync2h1	A	G	9: 7,002,623	L3808P	probably damaging	Het
Faf2	T	A	13: 54,650,214	W209R	probably damaging	Het
Fam129a	T	C	1: 151,718,297	V911A	probably benign	Het
Fam208b	T	C	13: 3,575,292	T1553A	probably benign	Het
Fbln2	A	T	6: 91,268,575	E992D	probably damaging	Het
Fdxacb1	T	A	9: 50,771,793	V352D	probably damaging	Het
Flg2	G	T	3: 93,219,996	G2072*	probably null	Het
Flii	A	T	11: 60,721,136	L347Q	probably damaging	Het
Fndc3a	A	T	14: 72,589,896	H116Q	probably damaging	Het
Fnta	A	T	8: 26,015,465	M39K	probably benign	Het
Gabra4	A	G	5: 71,571,992	S482P	probably benign	Het
Gapdhs	G	A	7: 30,737,958	P61S	unknown	Het
Gm10153	A	T	7: 142,189,664	C242*	probably null	Het
Gp1ba	A	G	11: 70,640,094	I229V	unknown	Het
Grap2	T	A	15: 80,643,704	L117Q	probably damaging	Het
Grik5	A	G	7: 25,013,885	I766T	possibly damaging	Het
Hrh3	A	T	2: 180,101,286	I183N	probably damaging	Het
Htr5a	C	A	5: 27,842,895	Y149*	probably null	Het
Ibtk	T	C	9: 85,722,300	I527V	probably benign	Het
Il33	T	A	19: 29,956,941	S184R	probably damaging	Het
Kansl3	T	A	1: 36,365,587	Q94L	possibly damaging	Het
Kcnh6	A	G	11: 106,017,416	D286G	probably benign	Het
Kmt2e	T	A	5: 23,478,587	M281K	probably damaging	Het
Lrp2	T	A	2: 69,516,403	H833L	probably damaging	Het
Meis1	A	T	11: 18,941,702	V282E	probably damaging	Het
Mfsd8	T	G	3: 40,830,662	D240A	probably damaging	Het
Muc5b	A	G	7: 141,847,249	T534A	unknown	Het
Myo18b	G	A	5: 112,830,328	L1243F	probably damaging	Het
Nefl	A	G	14: 68,084,674	I238V	probably benign	Het
Nexn	T	A	3: 152,253,647	I62F	possibly damaging	Het
Notch4	T	C	17: 34,583,574	L1323P	probably damaging	Het
Olfr493	A	T	7: 108,346,482	F166L	probably benign	Het
Olfr555	T	C	7: 102,659,051	S77P	probably damaging	Het
Olfr906	T	C	9: 38,488,656	V209A	probably benign	Het
Patj	C	A	4: 98,568,980	H1244N	probably damaging	Het
Peg10	T	A	6: 4,756,082	D219E	unknown	Het
Pi4kb	G	T	3: 94,999,114		probably null	Het
Piezo1	A	G	8: 122,498,418	F614S		Het
Pisd	T	A	5: 32,737,337	N372Y	probably damaging	Het
Piwil4	T	C	9: 14,734,597	D178G	probably benign	Het
Plekho1	G	T	3: 95,989,254	P301Q	probably damaging	Het
Pop1	T	A	15: 34,528,947	W738R	probably null	Het
Ppp4r1	C	T	17: 65,810,616	P125L	possibly damaging	Het
Prdm9	T	A	17: 15,563,264	N13I	probably damaging	Het
Psd4	T	G	2: 24,407,011	V932G	probably damaging	Het
Ptger3	T	C	3: 157,641,775	S355P	probably benign	Het
Ptprb	T	C	10: 116,339,430	V823A	probably damaging	Het
Ptprj	C	T	2: 90,455,186	V841I	probably benign	Het
Ranbp3	T	C	17: 56,707,923	S281P	probably benign	Het
Rasal3	T	A	17: 32,395,861	M541L	possibly damaging	Het
Rassf1	A	G	9: 107,551,783	T63A	possibly damaging	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rgs4	G	A	1: 169,744,358	T124I	probably damaging	Het
Rspo2	T	A	15: 43,169,976		probably benign	Het
Scgn	T	C	13: 23,953,914	D258G	probably damaging	Het
Shkbp1	A	G	7: 27,347,131	S403P	possibly damaging	Het
Slc25a13	A	G	6: 6,052,785	L525P	probably damaging	Het
Snd1	G	T	6: 28,526,203	K193N	possibly damaging	Het
Sntg2	C	T	12: 30,175,202	A516T	probably damaging	Het
Stard13	A	G	5: 151,059,502	I699T	probably damaging	Het
Svil	T	A	18: 5,114,636	V1984D	probably damaging	Het
Swt1	A	G	1: 151,394,719	S582P	probably benign	Het
Sypl2	A	G	3: 108,214,538	*265Q	probably null	Het
Taar8a	T	A	10: 24,077,408	Y303*	probably null	Het
Tlr2	T	A	3: 83,836,542	I745F	probably damaging	Het
Tnrc6b	A	G	15: 80,929,393	T1784A	probably benign	Het
Tpo	C	A	12: 30,119,432	M101I	probably benign	Het
Trpm2	G	T	10: 77,937,950	R544S	probably benign	Het
Ttc14	A	G	3: 33,809,251	R603G	unknown	Het
Tubgcp6	A	C	15: 89,100,722	V1694G	probably damaging	Het
Uba6	C	A	5: 86,147,111	K356N	probably benign	Het
Usp16	T	C	16: 87,464,835	V113A	possibly damaging	Het
Vcam1	G	A	3: 116,114,383	Q677*	probably null	Het
Vmn1r238	T	A	18: 3,122,721	E231V	probably damaging	Het
Vmn1r70	T	C	7: 10,633,944	F120L	probably benign	Het
Vmn2r116	T	A	17: 23,384,856		probably null	Het
Vmn2r5	A	T	3: 64,504,404	C248S	probably damaging	Het
Vmn2r87	A	T	10: 130,479,071	D215E	probably damaging	Het
Xkr4	T	G	1: 3,670,688	I221L	probably benign	Het
Zfp366	T	C	13: 99,246,387	I686T	probably benign	Het
Zfp398	T	A	6: 47,866,732	C573S	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
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'- AGCATGGCTGAAACAGGACC -3'
(R):5'- GTAATGGAAGCATCAGGGCC -3'

Sequencing Primer
(F):5'- ATTCCAGCACTTGGGGAATC -3'
(R):5'- CATCAGGGCCAGAAAGTGTC -3'

Posted On

2019-10-17