Mutagenetix > Incidental Mutation

Incidental Mutation 'R9512:Abca16'

718235

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9512 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120423740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 33 (A33V)

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: A33V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: A33V

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: A33V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: A33V

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113 (GRCm38)	T22A	possibly damaging	Het
Alkbh8	G	T	9: 3,367,959 (GRCm38)	R325M	probably damaging	Het
Ap1g1	T	C	8: 109,803,055 (GRCm38)	S36P	probably damaging	Het
Arid1b	A	G	17: 5,341,589 (GRCm38)	D1745G	probably benign	Het
Bnipl	A	G	3: 95,243,058 (GRCm38)	V292A	probably benign	Het
Brca2	C	T	5: 150,531,081 (GRCm38)	A103V	probably benign	Het
Capn3	G	A	2: 120,496,054 (GRCm38)	E576K	probably damaging	Het
Eif2ak4	G	A	2: 118,462,715 (GRCm38)	G1372S	probably damaging	Het
Ephb6	G	A	6: 41,616,096 (GRCm38)	E423K	possibly damaging	Het
Esrp1	A	G	4: 11,365,449 (GRCm38)	V213A	probably benign	Het
Fndc3a	T	C	14: 72,589,984 (GRCm38)	E87G	probably damaging	Het
Foxn1	G	T	11: 78,371,209 (GRCm38)	S111R		Het
Fyb2	G	A	4: 104,995,903 (GRCm38)	R564Q	probably benign	Het
Gm4969	T	A	7: 19,104,935 (GRCm38)	T156S	unknown	Het
Henmt1	A	G	3: 108,960,129 (GRCm38)	I327V	probably benign	Het
Hsdl2	A	T	4: 59,594,464 (GRCm38)	R117*	probably null	Het
Kif18a	A	G	2: 109,341,172 (GRCm38)	T865A	probably benign	Het
Lrrcc1	T	C	3: 14,548,241 (GRCm38)	L463P	possibly damaging	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Mroh4	C	A	15: 74,613,246 (GRCm38)	R539L	probably benign	Het
Nln	A	T	13: 104,061,766 (GRCm38)	H179Q	possibly damaging	Het
Nrg2	A	G	18: 36,045,957 (GRCm38)	F309L	probably benign	Het
Ntng2	T	C	2: 29,227,957 (GRCm38)	T160A	possibly damaging	Het
Or1j10	T	C	2: 36,377,313 (GRCm38)	L179P	possibly damaging	Het
Or2n1d	A	T	17: 38,335,429 (GRCm38)	T91S	possibly damaging	Het
Or4x12-ps1	A	G	2: 90,086,377 (GRCm38)	L28P	possibly damaging	Het
Or9s14	T	C	1: 92,608,268 (GRCm38)	C144R	probably benign	Het
Orc6	T	A	8: 85,302,893 (GRCm38)	I98N		Het
Pcdha8	A	C	18: 36,993,571 (GRCm38)	I369L	possibly damaging	Het
Plk2	C	T	13: 110,400,139 (GRCm38)	T655M	probably damaging	Het
Pou1f1	A	G	16: 65,523,616 (GRCm38)	T66A	probably benign	Het
Ppp1r9a	A	T	6: 5,113,681 (GRCm38)	E728D	probably benign	Het
Ppp1r9a	T	C	6: 5,115,364 (GRCm38)	V829A	probably damaging	Het
Psd	T	C	19: 46,317,715 (GRCm38)	K46R	possibly damaging	Het
Slc25a51	T	C	4: 45,399,360 (GRCm38)	I277V	probably benign	Het
Slc9a2	T	G	1: 40,682,098 (GRCm38)	D75E	probably damaging	Het
Slitrk5	A	G	14: 111,679,820 (GRCm38)	Y292C	probably damaging	Het
Snap91	T	G	9: 86,783,339 (GRCm38)	T667P	unknown	Het
Spata16	G	C	3: 26,667,944 (GRCm38)	E205Q	possibly damaging	Het
Stard6	G	A	18: 70,500,530 (GRCm38)	V203I	probably benign	Het
Stra8	G	A	6: 34,933,053 (GRCm38)	A137T	probably benign	Het
Toporsl	A	G	4: 52,610,382 (GRCm38)	T92A	probably benign	Het
Ush2a	A	G	1: 188,910,963 (GRCm38)	N4174S	probably damaging	Het
Vmn1r232	A	C	17: 20,914,154 (GRCm38)	S61R	probably damaging	Het
Zfp263	T	C	16: 3,746,442 (GRCm38)	S199P	probably damaging	Het
Zfp616	G	A	11: 74,085,110 (GRCm38)	C735Y	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
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
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'- GTATACCATACTTGTCATGGCTGAC -3'
(R):5'- CAATGTCTACCTTTGATAGTGGTG -3'

Sequencing Primer
(F):5'- CATGGCTGACAGGTCTTACG -3'
(R):5'- GGTGTTGAGATTCCTCTTTACATC -3'

Posted On

2022-07-18