Mutagenetix > Incidental Mutation

Incidental Mutation 'R9320:Abca16'

706096

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120540097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1451 (Y1451H)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000056042
AA Change: Y1450H

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: Y1450H

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: Y1451H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: Y1451H

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: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,997,637 (GRCm38)	M8K	possibly damaging	Het
Ablim3	C	A	18: 61,839,734 (GRCm38)	R238L	probably damaging	Het
Adar	T	A	3: 89,751,061 (GRCm38)	Y1141*	probably null	Het
Arid2	T	C	15: 96,371,186 (GRCm38)	I1060T	probably damaging	Het
Armc2	A	T	10: 41,963,778 (GRCm38)	V397D	possibly damaging	Het
Astn2	A	G	4: 66,404,149 (GRCm38)	V71A	unknown	Het
Bcat2	A	G	7: 45,585,118 (GRCm38)	D141G	probably damaging	Het
Bicdl1	C	A	5: 115,724,710 (GRCm38)	R162L	probably damaging	Het
Btbd17	A	G	11: 114,794,084 (GRCm38)	I43T	possibly damaging	Het
C2cd5	A	T	6: 143,031,293 (GRCm38)	C698*	probably null	Het
Calr	T	A	8: 84,846,000 (GRCm38)	K87*	probably null	Het
Cap2	C	T	13: 46,615,342 (GRCm38)	T208I	probably benign	Het
Col14a1	A	T	15: 55,501,384 (GRCm38)	M1630L	probably benign	Het
Copg1	T	G	6: 87,910,090 (GRCm38)	S816A	possibly damaging	Het
Csf2ra	C	A	19: 61,226,842 (GRCm38)	A112S	possibly damaging	Het
Cwc27	T	A	13: 104,797,291 (GRCm38)	H241L	probably benign	Het
Dgki	T	A	6: 36,915,487 (GRCm38)	E852V	probably damaging	Het
Dpp6	T	C	5: 27,663,523 (GRCm38)		probably null	Het
Dynlrb1	T	C	2: 155,247,940 (GRCm38)		probably null	Het
Ehhadh	C	T	16: 21,773,531 (GRCm38)	V141I	probably benign	Het
Esyt3	A	G	9: 99,311,991 (GRCm38)	L865P	probably damaging	Het
Fam83h	T	A	15: 76,002,075 (GRCm38)	T1138S	possibly damaging	Het
Fzd4	T	C	7: 89,407,704 (GRCm38)	W320R	probably damaging	Het
Gimap7	A	T	6: 48,724,326 (GRCm38)	K282M	probably benign	Het
Gm13212	C	G	4: 145,622,586 (GRCm38)	Q198E	possibly damaging	Het
Gnai2	G	A	9: 107,615,714 (GRCm38)	T330I		Het
Gpr107	T	C	2: 31,188,716 (GRCm38)	S388P	possibly damaging	Het
Il1a	T	G	2: 129,300,734 (GRCm38)	M264L	probably benign	Het
Ints10	A	T	8: 68,827,299 (GRCm38)	I693F	probably damaging	Het
Jak3	A	T	8: 71,681,621 (GRCm38)	N456Y	probably benign	Het
Krcc1	A	G	6: 71,284,473 (GRCm38)	E163G	probably benign	Het
Lctl	A	G	9: 64,133,173 (GRCm38)	Y466C	probably damaging	Het
Lrp12	A	T	15: 39,877,961 (GRCm38)	S472T	probably damaging	Het
Lrp1b	A	G	2: 41,445,099 (GRCm38)		probably null	Het
Lrriq1	T	A	10: 103,221,283 (GRCm38)	M219L	probably benign	Het
Mbl2	T	A	19: 30,239,341 (GRCm38)	D184E	probably damaging	Het
Mrgpra9	G	A	7: 47,235,644 (GRCm38)	R92C	probably benign	Het
Mroh4	G	A	15: 74,611,556 (GRCm38)	T644I	probably damaging	Het
Muc5ac	C	T	7: 141,815,518 (GRCm38)	A3114V	probably benign	Het
Myh11	T	A	16: 14,211,288 (GRCm38)	M1197L		Het
Naga	C	T	15: 82,336,883 (GRCm38)	G71S	probably damaging	Het
Nicn1	C	T	9: 108,294,509 (GRCm38)	R163C	possibly damaging	Het
Nos1	G	C	5: 117,879,337 (GRCm38)	R255P	probably benign	Het
Nsd3	A	G	8: 25,709,061 (GRCm38)		probably null	Het
Nsun6	T	C	2: 15,042,237 (GRCm38)	T101A	probably benign	Het
Olfr545	T	A	7: 102,494,877 (GRCm38)		probably benign	Het
Pabpc4l	T	A	3: 46,446,891 (GRCm38)	D106V	probably damaging	Het
Pdlim5	G	A	3: 142,247,348 (GRCm38)	P529L	probably damaging	Het
Ralgapa1	A	G	12: 55,709,058 (GRCm38)	L1111P	possibly damaging	Het
Rangap1	T	C	15: 81,722,020 (GRCm38)	D40G	probably benign	Het
Ripor2	T	C	13: 24,731,680 (GRCm38)	F1078L	probably damaging	Het
Ryr3	T	C	2: 112,779,991 (GRCm38)	D2312G	probably damaging	Het
Siglecg	T	A	7: 43,409,429 (GRCm38)	I202N	probably benign	Het
Slco4c1	G	T	1: 96,867,919 (GRCm38)	S138*	probably null	Het
Snx27	T	C	3: 94,524,286 (GRCm38)	Y267C	probably damaging	Het
Sphk2	C	T	7: 45,711,755 (GRCm38)	R275H	probably damaging	Het
Stk36	T	A	1: 74,616,634 (GRCm38)	V432E	possibly damaging	Het
Tecrl	C	T	5: 83,280,575 (GRCm38)	S283N	possibly damaging	Het
Tenm2	T	A	11: 36,023,647 (GRCm38)	E2354D	probably damaging	Het
Tmem59l	A	G	8: 70,485,172 (GRCm38)	V186A	possibly damaging	Het
Try4	T	C	6: 41,305,074 (GRCm38)		probably null	Het
Ubr1	C	A	2: 120,896,519 (GRCm38)	G1248V	probably benign	Het
Umod	C	T	7: 119,466,132 (GRCm38)	G558E	probably damaging	Het
Unc13b	T	C	4: 43,171,044 (GRCm38)	F624S	unknown	Het
Uvssa	T	G	5: 33,390,021 (GRCm38)	D310E	probably benign	Het
Vmn1r222	A	T	13: 23,232,248 (GRCm38)	M265K	probably benign	Het
Vmn1r3	A	G	4: 3,185,284 (GRCm38)	F8L	probably benign	Het
Zfp386	T	A	12: 116,059,897 (GRCm38)	C412S	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
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'- GTGGGAATTGTAGGGTATCAAACATTC -3'
(R):5'- GGCTTTGTGGGCATTCACTC -3'

Sequencing Primer
(F):5'- GTATGAGTTAAACAGCCTCACATGC -3'
(R):5'- GGCTTTGTGGGCATTCACTCTAAAC -3'

Posted On

2022-03-25