Mutagenetix > Incidental Mutation

Incidental Mutation 'R5388:Abca16'

425413

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

042960-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 120540746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably null
Transcript: ENSMUST00000056042

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900

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 null
Transcript: ENSMUST00000056042

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900

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 null
Transcript: ENSMUST00000120490

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900

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

probably null
Transcript: ENSMUST00000120490

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (57/58)

Allele List at MGI

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

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,283,727 (GRCm38)	Q4483R	probably damaging	Het
Acap2	C	A	16: 31,109,725 (GRCm38)	C475F	probably damaging	Het
Ace	C	A	11: 105,988,458 (GRCm38)	P603Q	possibly damaging	Het
Adamts20	C	G	15: 94,345,778 (GRCm38)	V657L	possibly damaging	Het
Antxr2	A	G	5: 97,977,599 (GRCm38)		probably null	Het
Atp6v1b2	G	A	8: 69,101,437 (GRCm38)	V89I	probably benign	Het
Cacna1e	G	A	1: 154,477,796 (GRCm38)	P676L	probably damaging	Het
Camsap3	A	T	8: 3,604,276 (GRCm38)	I649F	probably damaging	Het
Camta1	G	T	4: 151,075,238 (GRCm38)	S490R	probably damaging	Het
Celsr1	A	G	15: 85,925,518 (GRCm38)	I2221T	probably damaging	Het
Cfd	A	T	10: 79,892,125 (GRCm38)	D164V	probably damaging	Het
Cfdp1	T	C	8: 111,768,752 (GRCm38)	D278G	probably damaging	Het
Cntn6	A	T	6: 104,832,562 (GRCm38)	L519F	probably damaging	Het
Col4a4	C	T	1: 82,493,591 (GRCm38)	G681E	unknown	Het
Cybrd1	T	C	2: 71,137,645 (GRCm38)		probably null	Het
Cyp2e1	T	C	7: 140,763,993 (GRCm38)	L48P	probably damaging	Het
Ep400	G	A	5: 110,701,728 (GRCm38)	T1409I	unknown	Het
Epp13	T	C	7: 6,266,347 (GRCm38)		probably null	Het
Exosc7	A	T	9: 123,118,907 (GRCm38)	D47V	probably damaging	Het
Fgr	T	C	4: 132,995,031 (GRCm38)	F204L	probably damaging	Het
Gm10100	G	A	10: 77,726,726 (GRCm38)	V81M	probably benign	Het
Gm12367	T	C	4: 35,235,690 (GRCm38)		noncoding transcript	Het
Gm15922	T	C	7: 3,738,857 (GRCm38)	T175A	possibly damaging	Het
Grxcr1	C	A	5: 68,166,195 (GRCm38)	T272K	probably damaging	Het
Kcna5	C	T	6: 126,534,896 (GRCm38)	D90N	probably benign	Het
Kdm5b	T	A	1: 134,608,897 (GRCm38)	Y618*	probably null	Het
Lama5	T	A	2: 180,190,746 (GRCm38)	H1670L	possibly damaging	Het
Mtus2	C	T	5: 148,306,708 (GRCm38)	Q113*	probably null	Het
Ncam1	A	C	9: 49,544,754 (GRCm38)	D521E	probably benign	Het
Nkapl	T	C	13: 21,467,570 (GRCm38)	H291R	possibly damaging	Het
Nlrp1b	T	G	11: 71,172,141 (GRCm38)	N695H	probably damaging	Het
Npc1l1	T	A	11: 6,214,733 (GRCm38)	Q1105H	probably damaging	Het
Paxip1	C	G	5: 27,781,455 (GRCm38)		probably benign	Het
Pign	A	T	1: 105,655,970 (GRCm38)	W136R	probably damaging	Het
Pkn3	T	A	2: 30,081,074 (GRCm38)	S222T	probably damaging	Het
Polr3a	T	C	14: 24,454,941 (GRCm38)	I1084V	possibly damaging	Het
Ppfibp1	T	G	6: 147,016,330 (GRCm38)	S484A	probably damaging	Het
Ppfibp1	T	A	6: 146,996,840 (GRCm38)	I98N	probably damaging	Het
Ppp1r7	T	C	1: 93,352,590 (GRCm38)	F127L	probably damaging	Het
Pramel1	T	C	4: 143,397,384 (GRCm38)	Y210H	probably benign	Het
Rad21l	C	T	2: 151,653,483 (GRCm38)	V427I	probably benign	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850 (GRCm38)		probably benign	Het
Rnf225	A	G	7: 12,928,005 (GRCm38)	D37G	probably damaging	Het
Smpd2	A	G	10: 41,487,971 (GRCm38)		probably null	Het
Tmem38b	C	T	4: 53,859,945 (GRCm38)	R242W	probably benign	Het
Topaz1	A	T	9: 122,774,093 (GRCm38)	K1035I	possibly damaging	Het
Trhr	T	C	15: 44,197,477 (GRCm38)	I131T	possibly damaging	Het
Usp1	A	G	4: 98,931,057 (GRCm38)	D252G	probably benign	Het
Usp14	C	T	18: 10,018,023 (GRCm38)	E90K	probably damaging	Het
Yme1l1	T	G	2: 23,162,557 (GRCm38)	D74E	probably benign	Het
Ythdc2	T	A	18: 44,857,025 (GRCm38)	L732Q	possibly damaging	Het
Zbbx	G	T	3: 75,083,670 (GRCm38)	A289D	probably damaging	Het
Zfhx3	G	A	8: 108,946,814 (GRCm38)	V1499I	possibly damaging	Het
Zfp622	T	C	15: 25,996,199 (GRCm38)	V184A	possibly damaging	Het

Other mutations in Abca16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Abca16	APN	7	120,423,759 (GRCm38)	missense	probably benign	0.08
IGL00590:Abca16	APN	7	120,423,815 (GRCm38)	missense	probably damaging	1.00
IGL01320:Abca16	APN	7	120,439,199 (GRCm38)	missense	probably damaging	1.00
IGL01322:Abca16	APN	7	120,439,199 (GRCm38)	missense	probably damaging	1.00
IGL01613:Abca16	APN	7	120,541,277 (GRCm38)	missense	probably benign	0.03
IGL01774:Abca16	APN	7	120,421,801 (GRCm38)	splice site	probably benign
IGL01774:Abca16	APN	7	120,477,835 (GRCm38)	missense	probably damaging	1.00
IGL01797:Abca16	APN	7	120,514,537 (GRCm38)	missense	probably benign	0.15
IGL02406:Abca16	APN	7	120,540,602 (GRCm38)	missense	probably damaging	1.00
IGL02437:Abca16	APN	7	120,533,729 (GRCm38)	missense	probably benign	0.00
IGL02541:Abca16	APN	7	120,514,658 (GRCm38)	missense	possibly damaging	0.91
IGL02576:Abca16	APN	7	120,433,455 (GRCm38)	missense	probably benign	0.05
IGL02578:Abca16	APN	7	120,423,956 (GRCm38)	critical splice donor site	probably null
IGL03156:Abca16	APN	7	120,423,851 (GRCm38)	missense	possibly damaging	0.69
IGL03381:Abca16	APN	7	120,527,818 (GRCm38)	missense	probably benign	0.12
PIT4802001:Abca16	UTSW	7	120,540,128 (GRCm38)	missense	probably benign	0.31
R0024:Abca16	UTSW	7	120,433,385 (GRCm38)	missense	probably damaging	1.00
R0026:Abca16	UTSW	7	120,477,923 (GRCm38)	splice site	probably benign
R0026:Abca16	UTSW	7	120,477,923 (GRCm38)	splice site	probably benign
R0123:Abca16	UTSW	7	120,540,155 (GRCm38)	missense	probably damaging	1.00
R0134:Abca16	UTSW	7	120,540,155 (GRCm38)	missense	probably damaging	1.00
R0225:Abca16	UTSW	7	120,540,155 (GRCm38)	missense	probably damaging	1.00
R0346:Abca16	UTSW	7	120,435,932 (GRCm38)	missense	probably damaging	1.00
R0355:Abca16	UTSW	7	120,423,798 (GRCm38)	missense	possibly damaging	0.68
R0358:Abca16	UTSW	7	120,544,716 (GRCm38)	missense	probably benign	0.01
R0525:Abca16	UTSW	7	120,465,810 (GRCm38)	nonsense	probably null
R0617:Abca16	UTSW	7	120,433,611 (GRCm38)	splice site	probably benign
R0625:Abca16	UTSW	7	120,435,893 (GRCm38)	missense	probably damaging	1.00
R0835:Abca16	UTSW	7	120,465,784 (GRCm38)	missense	probably benign	0.42
R1445:Abca16	UTSW	7	120,520,033 (GRCm38)	missense	probably benign	0.41
R1535:Abca16	UTSW	7	120,540,705 (GRCm38)	missense	probably benign	0.30
R1567:Abca16	UTSW	7	120,431,129 (GRCm38)	missense	probably benign	0.08
R1694:Abca16	UTSW	7	120,520,084 (GRCm38)	missense	probably damaging	1.00
R1860:Abca16	UTSW	7	120,534,763 (GRCm38)	missense	probably benign	0.02
R1876:Abca16	UTSW	7	120,433,385 (GRCm38)	missense	probably damaging	1.00
R1913:Abca16	UTSW	7	120,541,240 (GRCm38)	missense	probably benign	0.04
R1940:Abca16	UTSW	7	120,433,609 (GRCm38)	splice site	probably benign
R2042:Abca16	UTSW	7	120,544,718 (GRCm38)	missense	probably benign
R2115:Abca16	UTSW	7	120,540,645 (GRCm38)	missense	probably damaging	1.00
R2122:Abca16	UTSW	7	120,519,961 (GRCm38)	missense	probably damaging	1.00
R2265:Abca16	UTSW	7	120,431,160 (GRCm38)	missense	probably benign	0.03
R2267:Abca16	UTSW	7	120,431,160 (GRCm38)	missense	probably benign	0.03
R2269:Abca16	UTSW	7	120,431,160 (GRCm38)	missense	probably benign	0.03
R2993:Abca16	UTSW	7	120,535,161 (GRCm38)	missense	probably damaging	1.00
R3055:Abca16	UTSW	7	120,435,851 (GRCm38)	missense	probably benign	0.05
R3956:Abca16	UTSW	7	120,527,752 (GRCm38)	missense	probably damaging	0.96
R4114:Abca16	UTSW	7	120,527,067 (GRCm38)	missense	probably benign	0.06
R4441:Abca16	UTSW	7	120,527,801 (GRCm38)	missense	probably benign	0.04
R4601:Abca16	UTSW	7	120,436,697 (GRCm38)	missense	probably damaging	0.98
R4706:Abca16	UTSW	7	120,465,765 (GRCm38)	missense	probably damaging	1.00
R4807:Abca16	UTSW	7	120,540,609 (GRCm38)	missense	probably damaging	1.00
R4824:Abca16	UTSW	7	120,475,479 (GRCm38)	missense	possibly damaging	0.86
R4937:Abca16	UTSW	7	120,527,086 (GRCm38)	missense	probably damaging	0.98
R5152:Abca16	UTSW	7	120,540,623 (GRCm38)	missense	probably benign	0.02
R5257:Abca16	UTSW	7	120,436,769 (GRCm38)	critical splice donor site	probably null
R5258:Abca16	UTSW	7	120,436,769 (GRCm38)	critical splice donor site	probably null
R5330:Abca16	UTSW	7	120,503,377 (GRCm38)	missense	probably benign	0.15
R5590:Abca16	UTSW	7	120,544,772 (GRCm38)	missense	probably damaging	0.98
R5810:Abca16	UTSW	7	120,435,932 (GRCm38)	missense	probably damaging	1.00
R6030:Abca16	UTSW	7	120,533,798 (GRCm38)	missense	probably benign
R6030:Abca16	UTSW	7	120,533,798 (GRCm38)	missense	probably benign
R6161:Abca16	UTSW	7	120,540,711 (GRCm38)	missense	probably damaging	1.00
R6313:Abca16	UTSW	7	120,527,121 (GRCm38)	missense	probably damaging	1.00
R6485:Abca16	UTSW	7	120,427,167 (GRCm38)	nonsense	probably null
R6527:Abca16	UTSW	7	120,477,772 (GRCm38)	missense	possibly damaging	0.95
R6772:Abca16	UTSW	7	120,527,053 (GRCm38)	missense	probably damaging	1.00
R6885:Abca16	UTSW	7	120,520,109 (GRCm38)	missense	probably benign	0.07
R6899:Abca16	UTSW	7	120,527,041 (GRCm38)	missense	probably damaging	1.00
R6941:Abca16	UTSW	7	120,541,147 (GRCm38)	missense	probably damaging	1.00
R6990:Abca16	UTSW	7	120,527,727 (GRCm38)	missense	probably benign	0.00
R7059:Abca16	UTSW	7	120,421,748 (GRCm38)	missense	probably benign	0.00
R7144:Abca16	UTSW	7	120,433,573 (GRCm38)	missense	possibly damaging	0.89
R7146:Abca16	UTSW	7	120,527,751 (GRCm38)	missense	possibly damaging	0.46
R7193:Abca16	UTSW	7	120,427,186 (GRCm38)	missense	probably damaging	1.00
R7308:Abca16	UTSW	7	120,423,770 (GRCm38)	missense	probably benign	0.01
R7449:Abca16	UTSW	7	120,435,908 (GRCm38)	missense	possibly damaging	0.95
R7571:Abca16	UTSW	7	120,519,988 (GRCm38)	missense	probably benign	0.11
R7617:Abca16	UTSW	7	120,503,471 (GRCm38)	nonsense	probably null
R7646:Abca16	UTSW	7	120,514,714 (GRCm38)	missense	probably benign	0.04
R7750:Abca16	UTSW	7	120,514,705 (GRCm38)	missense	probably benign	0.09
R7763:Abca16	UTSW	7	120,514,602 (GRCm38)	missense	probably damaging	1.00
R7840:Abca16	UTSW	7	120,475,466 (GRCm38)	missense	probably benign	0.00
R7946:Abca16	UTSW	7	120,527,175 (GRCm38)	missense	probably benign	0.01
R8018:Abca16	UTSW	7	120,533,643 (GRCm38)	missense	probably benign	0.04
R8170:Abca16	UTSW	7	120,465,782 (GRCm38)	missense	probably damaging	1.00
R8413:Abca16	UTSW	7	120,423,900 (GRCm38)	missense	probably benign	0.06
R8461:Abca16	UTSW	7	120,436,695 (GRCm38)	missense	possibly damaging	0.95
R8858:Abca16	UTSW	7	120,453,104 (GRCm38)	missense	probably benign
R8881:Abca16	UTSW	7	120,475,571 (GRCm38)	missense	probably benign	0.18
R9272:Abca16	UTSW	7	120,477,770 (GRCm38)	missense	probably benign	0.13
R9303:Abca16	UTSW	7	120,527,766 (GRCm38)	missense	probably benign	0.25
R9305:Abca16	UTSW	7	120,527,766 (GRCm38)	missense	probably benign	0.25
R9320:Abca16	UTSW	7	120,540,097 (GRCm38)	missense	probably damaging	0.98
R9413:Abca16	UTSW	7	120,527,199 (GRCm38)	missense	probably benign	0.01
R9512:Abca16	UTSW	7	120,423,740 (GRCm38)	missense	probably benign	0.01
R9559:Abca16	UTSW	7	120,421,796 (GRCm38)	critical splice donor site	probably null
R9615:Abca16	UTSW	7	120,527,181 (GRCm38)	missense	probably benign	0.01
R9641:Abca16	UTSW	7	120,527,085 (GRCm38)	missense	possibly damaging	0.52
R9643:Abca16	UTSW	7	120,465,800 (GRCm38)	missense	possibly damaging	0.96
R9674:Abca16	UTSW	7	120,475,445 (GRCm38)	critical splice acceptor site	probably null
R9714:Abca16	UTSW	7	120,431,160 (GRCm38)	missense	probably benign	0.01
R9799:Abca16	UTSW	7	120,533,775 (GRCm38)	missense	probably benign	0.00
R9800:Abca16	UTSW	7	120,520,060 (GRCm38)	missense	possibly damaging	0.68
RF020:Abca16	UTSW	7	120,533,657 (GRCm38)	missense	possibly damaging	0.90
X0066:Abca16	UTSW	7	120,503,386 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACATTATGAAGTGCTGGAAGC -3'
(R):5'- GGCATTACAGAGAGTCACCAC -3'

Sequencing Primer
(F):5'- GCAAACGTAGGCTAAGCACTGC -3'
(R):5'- ATCCTCACTGAATTAGCTAGCTAG -3'

Posted On

2016-08-04