Mutagenetix > Incidental Mutation

Incidental Mutation 'R7646:Abca16'

590541

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 16

Synonyms

MMRRC Submission

045724-MU

Accession Numbers

NCBI RefSeq: NM_001278943.1, NM_001278944.1; MGI:2388711

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7646 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120514714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 936 (H936R)

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: H935R

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: H935R

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: H936R

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: H936R

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (64/64)

Allele List at MGI

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

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	C	A	8: 123,493,027	D431E	possibly damaging	Het
Agrn	T	C	4: 156,195,354	N120S	probably damaging	Het
Apob	A	G	12: 8,009,189	D2557G	probably damaging	Het
Atl2	A	G	17: 79,854,607	Y359H	probably damaging	Het
Banp	T	C	8: 122,024,036	S489P	possibly damaging	Het
Cage1	A	G	13: 38,022,847	C341R	probably damaging	Het
Cdh23	T	C	10: 60,305,152	N3139S	possibly damaging	Het
Chd2	G	T	7: 73,435,773	S1704R	possibly damaging	Het
Col4a2	T	A	8: 11,445,086	F1515I	probably benign	Het
Crocc	T	A	4: 141,021,655	Q1613L	probably null	Het
Cttnbp2	A	T	6: 18,375,940	S1533R	probably damaging	Het
Dlgap5	C	T	14: 47,399,519		probably null	Het
Dnah8	G	A	17: 30,649,677	D362N	probably benign	Het
Elf5	G	T	2: 103,439,243	K56N	probably benign	Het
Emsy	G	A	7: 98,619,353	P508S	probably damaging	Het
Fam135a	T	C	1: 24,028,623	H1055R	probably benign	Het
Fh1	C	T	1: 175,614,913	V124I	probably benign	Het
Gbf1	T	A	19: 46,283,672	D1610E	probably damaging	Het
Glp1r	A	G	17: 30,936,283	K415E	probably benign	Het
Glyr1	T	C	16: 5,018,497	D496G	probably damaging	Het
Herc2	A	G	7: 56,134,613	I1342V	probably benign	Het
Hoxa7	A	G	6: 52,215,719	*230Q	probably null	Het
Ice1	A	G	13: 70,589,797	V2177A	possibly damaging	Het
Ildr1	T	A	16: 36,721,919	M271K	possibly damaging	Het
Klk1b22	T	G	7: 44,116,118		probably null	Het
Lig3	T	A	11: 82,783,478	N43K	probably benign	Het
Mcmdc2	A	G	1: 9,912,135	T83A	possibly damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Mki67	A	T	7: 135,696,769	S2179T	possibly damaging	Het
Mrpl38	G	A	11: 116,132,767	S282L	probably damaging	Het
Ndst2	A	G	14: 20,724,459		probably null	Het
Nlrp4a	C	G	7: 26,449,562	A198G	probably damaging	Het
Nup98	A	C	7: 102,154,035	S653A	probably benign	Het
Olfr1084	C	A	2: 86,639,169	D180Y	probably damaging	Het
Olfr1120	A	G	2: 87,357,758	I105V	probably benign	Het
Olfr116	G	T	17: 37,624,404	T77K	probably damaging	Het
Olfr60	A	G	7: 140,345,951	F13L	probably damaging	Het
Olfr632	G	A	7: 103,938,297	A306T	probably damaging	Het
Pclo	A	T	5: 14,520,895	D98V	probably damaging	Het
Peg3	A	T	7: 6,709,222	D1000E	probably benign	Het
Polr3h	A	G	15: 81,917,370	Y131H	probably damaging	Het
Rapgef6	A	G	11: 54,625,954	I346V	probably benign	Het
Rufy1	T	A	11: 50,410,609	K332M	probably damaging	Het
Scn1a	T	C	2: 66,287,758	M404V	possibly damaging	Het
Sept8	T	A	11: 53,537,917		probably null	Het
Sesn3	A	G	9: 14,308,615	D100G	probably damaging	Het
Setx	A	G	2: 29,177,549	I2388V	possibly damaging	Het
Skint5	T	A	4: 113,763,542		probably null	Het
Slc25a23	C	T	17: 57,059,759		probably benign	Het
Slc4a7	G	A	14: 14,773,348	E773K	probably benign	Het
Slco3a1	G	A	7: 74,504,596	A76V	probably damaging	Het
Stradb	A	T	1: 58,994,408	D410V	probably benign	Het
Syne1	T	C	10: 5,172,949	D329G	probably damaging	Het
Syt4	A	C	18: 31,441,605	S320A	possibly damaging	Het
Tnfsf4	A	G	1: 161,417,162	T141A	possibly damaging	Het
Trim34b	G	A	7: 104,335,352	A279T	probably damaging	Het
Trpm6	A	T	19: 18,867,961	D1675V	probably benign	Het
Vmn2r24	T	A	6: 123,816,210	M832K	probably benign	Het
Wdr90	A	G	17: 25,860,130	V246A	probably benign	Het
Xkr6	G	T	14: 63,606,974	D149Y	probably damaging	Het
Zfp108	A	G	7: 24,261,415	Y477C	probably damaging	Het
Zfp37	T	G	4: 62,191,295	I552L	probably damaging	Het
Zfp426	A	T	9: 20,470,024	S556T	probably damaging	Het
Zfp954	G	A	7: 7,115,721	L275F	possibly 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
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'- AGGTTCCACTTTACCGCCAG -3'
(R):5'- TAAGATACTGGTAACTGGTGGGATG -3'

Sequencing Primer
(F):5'- ACCGCCAGCAATTCTATTCC -3'
(R):5'- CCATTGCAAGTGATAAGTAGGTC -3'

Posted On

2019-10-24