Mutagenetix > Incidental Mutation

Incidental Mutation 'R9272:Abca16'

703018

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 #

R9272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120477770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 686 (D686E)

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: D685E

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: D685E

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: D686E

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: D686E

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

0.0780

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

Allele List at MGI

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

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	G	6: 146,953,001 (GRCm38)	V181A	probably damaging	Het
9330182L06Rik	T	C	5: 9,410,699 (GRCm38)	Y207H	probably damaging	Het
Abca8a	C	A	11: 110,063,082 (GRCm38)	C844F	probably damaging	Het
Acd	G	A	8: 105,698,320 (GRCm38)	P396L	probably damaging	Het
Adamtsl3	A	G	7: 82,540,545 (GRCm38)	Y659C	probably damaging	Het
Ankfn1	C	T	11: 89,523,049 (GRCm38)	V167M	probably benign	Het
Ankrd13c	T	A	3: 157,994,721 (GRCm38)	L393Q	possibly damaging	Het
Arid1b	G	A	17: 5,336,604 (GRCm38)	G1391D	possibly damaging	Het
Arid5b	T	A	10: 68,102,052 (GRCm38)	D415V	probably damaging	Het
Arl13b	G	T	16: 62,827,411 (GRCm38)	H45N	probably benign	Het
Atp13a4	A	T	16: 29,449,979 (GRCm38)	I519N		Het
Atrnl1	T	C	19: 57,654,988 (GRCm38)	I436T	probably benign	Het
Bbx	A	G	16: 50,202,572 (GRCm38)	I675T	probably damaging	Het
Bcas1	A	T	2: 170,348,120 (GRCm38)	V619E	probably damaging	Het
Cad	T	C	5: 31,061,232 (GRCm38)	V501A	possibly damaging	Het
Car8	T	A	4: 8,169,686 (GRCm38)	N274I	probably damaging	Het
Ccdc3	A	G	2: 5,141,332 (GRCm38)	Q159R	probably damaging	Het
Ccdc7b	A	T	8: 129,166,978 (GRCm38)	E95D	possibly damaging	Het
Cdh12	G	T	15: 21,492,715 (GRCm38)		probably benign	Het
Col11a1	G	T	3: 114,108,299 (GRCm38)	G548*	probably null	Het
Cpb2	A	G	14: 75,283,363 (GRCm38)	E406G	probably damaging	Het
Crocc	T	C	4: 141,019,821 (GRCm38)	S1723G	probably benign	Het
Ctu2	T	C	8: 122,479,306 (GRCm38)	V262A	probably benign	Het
Dmxl2	A	T	9: 54,404,120 (GRCm38)	N1772K	possibly damaging	Het
Dock3	A	T	9: 106,897,370 (GRCm38)	M62K	probably benign	Het
Dok7	G	A	5: 35,056,895 (GRCm38)		probably benign	Het
E2f3	A	G	13: 29,918,646 (GRCm38)	Y211H	probably damaging	Het
Fam129c	A	C	8: 71,602,876 (GRCm38)	D310A	probably damaging	Het
Fam53c	T	A	18: 34,762,721 (GRCm38)	S25R	probably damaging	Het
Fhod3	T	G	18: 24,897,624 (GRCm38)		probably benign	Het
Foxp4	A	G	17: 47,869,108 (GRCm38)	Y623H	unknown	Het
Ggt1	A	T	10: 75,585,915 (GRCm38)	H532L	probably benign	Het
Gm10775	A	C	13: 65,259,956 (GRCm38)	T24P	unknown	Het
Hinfp	A	G	9: 44,302,575 (GRCm38)	S2P	probably benign	Het
Hs3st4	A	G	7: 123,983,526 (GRCm38)	T116A	probably benign	Het
Ighv5-9-1	A	T	12: 113,736,198 (GRCm38)	I98N	probably damaging	Het
Ipo11	A	T	13: 106,910,205 (GRCm38)	Y171N	probably benign	Het
Jph1	C	A	1: 17,091,614 (GRCm38)	A275S	probably damaging	Het
Kcnh6	C	G	11: 106,034,034 (GRCm38)	H941Q	possibly damaging	Het
Kcnh7	A	T	2: 62,787,753 (GRCm38)	I464K	probably damaging	Het
Lrp8	C	A	4: 107,859,961 (GRCm38)	P603T	probably benign	Het
Man1c1	C	A	4: 134,563,807 (GRCm38)	D593Y	probably damaging	Het
Mdm4	A	T	1: 133,001,431 (GRCm38)	I176K	possibly damaging	Het
Mpo	T	C	11: 87,795,867 (GRCm38)	V139A	probably benign	Het
Nicn1	C	T	9: 108,294,509 (GRCm38)	R163C	possibly damaging	Het
Nup98	C	A	7: 102,138,830 (GRCm38)	R1011L	probably benign	Het
Olfr1015	A	T	2: 85,785,744 (GRCm38)	I78L	probably benign	Het
Olfr1301	G	A	2: 111,754,620 (GRCm38)	V124M	probably damaging	Het
Olfr1366	A	G	13: 21,537,694 (GRCm38)	S89P	possibly damaging	Het
Park2	T	A	17: 11,237,640 (GRCm38)	V117E	probably damaging	Het
Pcdh7	A	G	5: 57,721,437 (GRCm38)	D778G	possibly damaging	Het
Pcdhb12	T	C	18: 37,437,622 (GRCm38)	F607S	probably damaging	Het
Pcolce	A	G	5: 137,608,071 (GRCm38)	F157L	probably benign	Het
Pogk	T	C	1: 166,399,211 (GRCm38)	Y457C	probably damaging	Het
Ppp1r21	G	A	17: 88,558,658 (GRCm38)	E323K	possibly damaging	Het
Prr12	A	C	7: 45,043,387 (GRCm38)	F1574V	probably damaging	Het
Rasl2-9	A	T	7: 5,125,449 (GRCm38)	F161I	probably damaging	Het
Rb1	A	G	14: 73,280,162 (GRCm38)	I268T	possibly damaging	Het
Rin3	A	T	12: 102,369,432 (GRCm38)	D534V	probably damaging	Het
Scn5a	C	T	9: 119,486,651 (GRCm38)	G1664S	probably damaging	Het
Sin3b	T	C	8: 72,744,540 (GRCm38)	S372P	probably benign	Het
Snx32	T	A	19: 5,498,457 (GRCm38)	H65L	probably damaging	Het
Spidr	T	A	16: 16,037,680 (GRCm38)	I324F	probably damaging	Het
Stab1	A	T	14: 31,145,341 (GRCm38)	F1687L	probably benign	Het
Taar6	T	C	10: 23,985,005 (GRCm38)	I214M	probably benign	Het
Vmn2r105	T	A	17: 20,227,423 (GRCm38)	N380Y	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
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
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'- CACAGCTGGTTTAAATGATGTTTGG -3'
(R):5'- AAAATGGGTCAGCAACTTTGTG -3'

Sequencing Primer
(F):5'- CTGGTTTAAATGATGTTTGGGATTG -3'
(R):5'- GGGTCAGCAACTTTGTGTAAAATTGC -3'

Posted On

2022-03-25