Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Abca16'

510522

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

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

Synonyms

MMRRC Submission

044470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120527121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1167 (F1167L)

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: F1167L

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: F1167L

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: F1168L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: F1168L

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

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

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	C	T	9: 51,290,181 (GRCm38)	D192N	probably damaging	Het
4932415D10Rik	T	C	10: 82,293,636 (GRCm38)	N1180S	probably benign	Het
Abraxas2	G	A	7: 132,874,965 (GRCm38)	A145T	probably damaging	Het
Acaca	C	T	11: 84,292,929 (GRCm38)	T32I	probably benign	Het
Adam6a	A	T	12: 113,545,050 (GRCm38)	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,508,061 (GRCm38)	A227T	possibly damaging	Het
Arhgef38	T	C	3: 133,234,708 (GRCm38)	D39G	possibly damaging	Het
Arid5b	T	C	10: 68,097,582 (GRCm38)	D587G	possibly damaging	Het
Brwd1	A	G	16: 96,007,941 (GRCm38)	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,205 (GRCm38)	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,774,522 (GRCm38)	Q53R	probably benign	Het
Celsr2	G	A	3: 108,401,214 (GRCm38)	S1799L	probably damaging	Het
Cenpe	A	G	3: 135,230,175 (GRCm38)	E457G	probably benign	Het
Cmtm1	A	T	8: 104,305,163 (GRCm38)	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,368,171 (GRCm38)		noncoding transcript	Het
Decr1	T	A	4: 15,924,261 (GRCm38)	M220L	probably benign	Het
Dgkg	T	G	16: 22,519,561 (GRCm38)	D592A	probably damaging	Het
Dkkl1	T	C	7: 45,211,438 (GRCm38)	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,659,514 (GRCm38)	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,481,371 (GRCm38)	E146D	probably benign	Het
Efhc1	T	C	1: 20,979,428 (GRCm38)	V504A	possibly damaging	Het
Ermard	T	G	17: 15,053,205 (GRCm38)		probably null	Het
Espl1	T	C	15: 102,315,812 (GRCm38)	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,403,397 (GRCm38)	V40G	probably damaging	Het
Gm3460	A	T	14: 6,619,410 (GRCm38)	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,620,097 (GRCm38)	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,157,532 (GRCm38)		probably null	Het
Hc	T	C	2: 34,989,839 (GRCm38)		probably null	Het
Iars	T	C	13: 49,708,445 (GRCm38)	S491P	probably damaging	Het
Knl1	T	A	2: 119,069,318 (GRCm38)	L500H	probably damaging	Het
Lamb1	A	T	12: 31,269,147 (GRCm38)	T102S	probably damaging	Het
Lrrc7	A	G	3: 158,160,736 (GRCm38)	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,871,727 (GRCm38)		probably null	Het
Mmp11	A	G	10: 75,923,984 (GRCm38)	*4R	probably null	Het
Myom1	A	T	17: 71,082,488 (GRCm38)	D911V	probably benign	Het
Nid1	A	G	13: 13,463,782 (GRCm38)	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,353,172 (GRCm38)	V839L	probably benign	Het
Notch3	A	T	17: 32,151,154 (GRCm38)		probably null	Het
Olfr1082	T	C	2: 86,594,067 (GRCm38)	T254A	possibly damaging	Het
Pcdh8	T	C	14: 79,767,651 (GRCm38)	H978R	probably benign	Het
Pde8b	A	T	13: 95,042,000 (GRCm38)	C537*	probably null	Het
Polr1b	T	C	2: 129,125,446 (GRCm38)	F920L	probably damaging	Het
Polr2f	A	G	15: 79,151,373 (GRCm38)	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421 (GRCm38)	H133L	probably damaging	Het
Ptk2b	T	A	14: 66,178,831 (GRCm38)	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,244,133 (GRCm38)	M343K	probably benign	Het
Rlf	G	A	4: 121,148,610 (GRCm38)	R1058W	probably damaging	Het
S100z	T	A	13: 95,478,574 (GRCm38)	K28*	probably null	Het
Scarf1	T	A	11: 75,520,315 (GRCm38)	N273K	probably benign	Het
Setd2	A	G	9: 110,556,366 (GRCm38)	I136M	unknown	Het
Sfrp2	A	G	3: 83,766,984 (GRCm38)	D148G	probably benign	Het
Slc24a4	A	G	12: 102,254,510 (GRCm38)	E400G	probably benign	Het
Slc2a9	T	G	5: 38,453,121 (GRCm38)	I112L	probably benign	Het
Smc5	A	T	19: 23,208,948 (GRCm38)	Y972*	probably null	Het
Sntg1	T	C	1: 8,445,024 (GRCm38)		probably null	Het
Stag1	A	G	9: 100,757,733 (GRCm38)	D114G	probably damaging	Het
Suclg1	T	C	6: 73,256,209 (GRCm38)	S46P	probably damaging	Het
Synj1	C	T	16: 90,946,815 (GRCm38)	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,755,447 (GRCm38)	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,744,356 (GRCm38)		probably null	Het
Tchh	C	A	3: 93,447,851 (GRCm38)	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,962,170 (GRCm38)	T887A	probably benign	Het
Ttn	T	C	2: 76,706,593 (GRCm38)	I34963V	probably benign	Het
Unc79	G	A	12: 103,112,619 (GRCm38)	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355 (GRCm38)	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,382,605 (GRCm38)	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,990,491 (GRCm38)	N337K	probably benign	Het
Zfp260	T	A	7: 30,104,842 (GRCm38)	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,292,682 (GRCm38)	E610K	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
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'- CACAGCATGTCCTTCATCTGG -3'
(R):5'- CGCAGAATTGAAGAGTAGCTTTTG -3'

Sequencing Primer
(F):5'- ACAGCATGTCCTTCATCTGGATTTC -3'
(R):5'- GATACTGAACATAGTTGAGAAG -3'

Posted On

2018-04-02