Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Abca16'

447468

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

043395-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120435932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 314 (C314S)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000056042
AA Change: C314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: C314S

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 damaging
Transcript: ENSMUST00000120490
AA Change: C314S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: C314S

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

noncoding transcript
Transcript: ENSMUST00000144122

SMART Domains

Protein: ENSMUSP00000114975
Gene: ENSMUSG00000051900

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	2	133	1e-16	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

Allele List at MGI

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

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631 (GRCm38)	F866L	probably benign	Het
Actl11	C	T	9: 107,929,221 (GRCm38)	P248S	probably benign	Het
Actr3	A	G	1: 125,416,379 (GRCm38)		probably benign	Het
Baz1a	G	A	12: 54,927,715 (GRCm38)		probably benign	Het
Birc6	A	C	17: 74,670,374 (GRCm38)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,163,718 (GRCm38)		probably null	Het
Car13	A	C	3: 14,641,768 (GRCm38)		probably null	Het
Ceacam18	A	T	7: 43,636,958 (GRCm38)	H85L	probably benign	Het
Cnnm3	A	G	1: 36,525,199 (GRCm38)	E704G	probably benign	Het
Cyp4f14	T	A	17: 32,906,098 (GRCm38)	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,602,707 (GRCm38)	T710N	probably damaging	Het
Ddx60	C	T	8: 62,012,388 (GRCm38)	Q1360*	probably null	Het
Dlg5	A	G	14: 24,146,254 (GRCm38)	V1625A	probably damaging	Het
Dst	G	A	1: 34,183,040 (GRCm38)		probably benign	Het
Dyrk2	G	T	10: 118,860,340 (GRCm38)	H338N	probably benign	Het
Epb41l1	A	T	2: 156,499,655 (GRCm38)	I187F	probably damaging	Het
Esd	A	G	14: 74,745,611 (GRCm38)	D221G	probably damaging	Het
Fam53b	T	A	7: 132,760,164 (GRCm38)	N45I	probably damaging	Het
Fchsd1	C	T	18: 37,959,873 (GRCm38)		probably benign	Het
Fryl	A	T	5: 73,090,755 (GRCm38)	D1006E	probably benign	Het
Gli3	T	C	13: 15,644,309 (GRCm38)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,213,216 (GRCm38)		probably benign	Het
Gpatch1	G	A	7: 35,295,371 (GRCm38)	A490V	probably benign	Het
Hoxa7	T	C	6: 52,216,024 (GRCm38)	D128G	probably benign	Het
Igdcc4	A	G	9: 65,128,695 (GRCm38)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,319,071 (GRCm38)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,733,252 (GRCm38)		probably null	Het
Il17re	C	T	6: 113,469,596 (GRCm38)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,874,236 (GRCm38)		probably benign	Het
Larp7-ps	A	T	4: 92,191,583 (GRCm38)		probably null	Het
Lgals12	T	C	19: 7,606,720 (GRCm38)	D4G	probably benign	Het
Liph	A	T	16: 21,968,110 (GRCm38)	L252Q	probably damaging	Het
Mtg1	T	A	7: 140,145,985 (GRCm38)		probably null	Het
Myo18b	A	G	5: 112,834,450 (GRCm38)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,950,168 (GRCm38)	R812G	probably benign	Het
Npm3	A	G	19: 45,748,205 (GRCm38)	I165T	possibly damaging	Het
Or1e22	G	T	11: 73,486,095 (GRCm38)	S243*	probably null	Het
Osbpl9	A	G	4: 109,086,374 (GRCm38)	V231A	probably benign	Het
Pgam2	T	C	11: 5,803,417 (GRCm38)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,200,673 (GRCm38)	W3219R	probably benign	Het
Procr	A	G	2: 155,751,407 (GRCm38)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,595,318 (GRCm38)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,623,858 (GRCm38)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,075,873 (GRCm38)	C500S	probably damaging	Het
Snrpd2	G	T	7: 19,152,522 (GRCm38)	V77F	probably benign	Het
Sp100	G	A	1: 85,665,285 (GRCm38)	G145D	probably benign	Het
Spg7	G	A	8: 123,094,569 (GRCm38)	E678K	possibly damaging	Het
Ssh1	T	C	5: 113,946,566 (GRCm38)	K538E	probably benign	Het
Sspo	C	T	6: 48,483,898 (GRCm38)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,049,078 (GRCm38)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,142,368 (GRCm38)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,434,424 (GRCm38)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm38)		probably benign	Het
Triobp	T	C	15: 78,968,267 (GRCm38)	C874R	probably benign	Het
Tymp	T	A	15: 89,374,331 (GRCm38)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,244,427 (GRCm38)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,677,542 (GRCm38)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,117,394 (GRCm38)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,666,324 (GRCm38)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,266 (GRCm38)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,357,409 (GRCm38)	Y54*	probably null	Het
Zswim9	A	T	7: 13,260,735 (GRCm38)	V498D	probably 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
R5388:Abca16	UTSW	7	120,540,746 (GRCm38)	critical splice donor site	probably null
R5590:Abca16	UTSW	7	120,544,772 (GRCm38)	missense	probably damaging	0.98
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'- GCAGAATTTTGATAGACCTCTAAGCC -3'
(R):5'- CATGTCAGAATTGGGATGTACAGTAAC -3'

Sequencing Primer
(F):5'- GATAGACCTCTAAGCCTTGATTTTTC -3'
(R):5'- TTGGGATGTACAGTAACACAAAACAC -3'

Posted On

2016-12-15