Mutagenetix > Incidental Mutations

Incidental Mutation 'R0109:Abca14'

17523

Institutional Source

Beutler Lab

Gene Symbol

Abca14

Ensembl Gene

ENSMUSG00000062017

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 14

Synonyms

1700110B15Rik, 4930539G24Rik

MMRRC Submission

038395-MU

Accession Numbers

Genbank: NM_026458; MGI: 2388708

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120203961-120325352 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 120318762 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1496 (K1496*)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084640]

Predicted Effect

probably null
Transcript: ENSMUST00000084640
AA Change: K1496*

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: K1496*

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	24	463	5.7e-23	PFAM
AAA	548	729	1.59e-10	SMART
Pfam:ABC2_membrane_3	902	1296	1.2e-36	PFAM
AAA	1384	1568	1.33e-3	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,659,303	H710Q	probably benign	Het
Anapc1	C	A	2: 128,634,693	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,578,294	S203T	probably benign	Het
Astn1	C	T	1: 158,664,104	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,755,517	Y1184N	possibly damaging	Het
Avil	A	G	10: 127,013,644	N603S	probably benign	Het
Brca1	T	C	11: 101,531,090	D149G	possibly damaging	Het
Car14	C	A	3: 95,899,451	A234S	probably benign	Het
Cep164	A	C	9: 45,771,587	L935R	probably damaging	Het
Cps1	T	C	1: 67,229,418	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,544,743	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,518,157	I459N	probably damaging	Het
Cyth1	T	C	11: 118,182,306	E242G	probably damaging	Het
Dclk3	T	G	9: 111,467,670	L94R	possibly damaging	Het
Disp2	T	C	2: 118,791,816	S1010P	probably damaging	Het
Dlec1	G	A	9: 119,105,824	R145H	probably damaging	Het
Dsg3	T	C	18: 20,540,134	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487	D309V	probably damaging	Het
Fam13b	A	G	18: 34,451,308	I601T	probably benign	Het
Fgd5	T	A	6: 91,988,235	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340	E688D	probably benign	Het
Gabrb1	C	T	5: 72,121,946		probably benign	Het
Gm10130	A	T	2: 150,323,841		probably benign	Het
Gm6590	A	T	6: 130,484,906		noncoding transcript	Het
Gse1	T	A	8: 120,567,785	S284T	probably damaging	Het
Ipo13	C	T	4: 117,905,016	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,259,151	E264G	probably benign	Het
Krt73	A	T	15: 101,796,395	L352*	probably null	Het
Mapk15	A	T	15: 75,996,077	K153*	probably null	Het
Mcemp1	C	A	8: 3,667,055	Y65*	probably null	Het
Mcoln2	C	G	3: 146,175,718	R210G	probably damaging	Het
Miox	G	A	15: 89,335,581	V91I	probably benign	Het
Myh7b	A	G	2: 155,611,674	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,693,748		probably null	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Olfr1241	A	G	2: 89,482,803	F111L	probably benign	Het
Olfr1442	C	A	19: 12,674,860	F218L	probably benign	Het
Olfr646	T	C	7: 104,106,605	S109P	probably damaging	Het
Osbp2	A	C	11: 3,711,791	S754A	probably benign	Het
Pard3	C	T	8: 127,398,666	R712C	probably damaging	Het
Parp9	T	C	16: 35,948,341	I64T	probably damaging	Het
Pcm1	T	A	8: 41,257,937	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,389,196	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,998,889	V43A	probably benign	Het
Pgap1	A	T	1: 54,494,825	V643E	probably damaging	Het
Pip5k1a	T	C	3: 95,065,442	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,379,047	M176L	probably benign	Het
Polg2	T	C	11: 106,777,132		probably benign	Het
Pomp	T	A	5: 147,875,513	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,324,217		probably null	Het
Prdx2	G	A	8: 84,970,251	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,105	G70D	probably benign	Het
Rdh10	T	A	1: 16,106,265	I83N	probably damaging	Het
Rin3	A	G	12: 102,313,081	I50V	possibly damaging	Het
Rnf122	T	C	8: 31,124,849		probably benign	Het
Sik2	A	G	9: 50,899,475	M447T	possibly damaging	Het
Sla2	A	G	2: 156,883,587		probably null	Het
Slc51a	T	A	16: 32,477,607	I192L	probably benign	Het
Sorcs1	T	C	19: 50,378,891		probably benign	Het
Spata16	T	A	3: 26,913,267	F389I	probably damaging	Het
Srebf1	G	A	11: 60,201,804	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,158,434	V736A	probably benign	Het
Tbx15	C	A	3: 99,351,866	T351N	possibly damaging	Het
Tep1	A	G	14: 50,851,916		probably null	Het
Tmed11	T	A	5: 108,777,412	D178V	probably damaging	Het
Traf7	A	G	17: 24,513,926	F110L	probably benign	Het
Ubqlnl	C	T	7: 104,150,192	V33M	probably damaging	Het
Vcan	A	T	13: 89,678,073		probably null	Het
Vmn1r194	A	G	13: 22,245,047	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,977,062	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,119	T961A	probably benign	Het
Wdr48	G	A	9: 119,918,568		probably benign	Het
Wwp1	G	A	4: 19,641,725		probably benign	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp839	G	A	12: 110,860,874	E400K	possibly damaging	Het

Other mutations in Abca14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Abca14	APN	7	120246853	missense	probably damaging	1.00
IGL00800:Abca14	APN	7	120255390	missense	probably benign	0.01
IGL00845:Abca14	APN	7	120223951	splice site	probably benign
IGL00897:Abca14	APN	7	120216125	splice site	probably benign
IGL01524:Abca14	APN	7	120253421	missense	possibly damaging	0.57
IGL01747:Abca14	APN	7	120278087	missense	probably benign	0.00
IGL02214:Abca14	APN	7	120294175	missense	probably benign	0.09
IGL02215:Abca14	APN	7	120253389	missense	probably benign	0.00
IGL02253:Abca14	APN	7	120207959	missense	probably benign	0.29
IGL02302:Abca14	APN	7	120318745	splice site	probably benign
IGL03391:Abca14	APN	7	120246884	missense	probably damaging	1.00
F6893:Abca14	UTSW	7	120325038	missense	probably damaging	0.98
R0109:Abca14	UTSW	7	120318762	nonsense	probably null
R0265:Abca14	UTSW	7	120223627	missense	probably benign	0.03
R0326:Abca14	UTSW	7	120224419	missense	probably damaging	1.00
R0380:Abca14	UTSW	7	120278480	missense	probably benign	0.03
R0418:Abca14	UTSW	7	120207434	missense	probably damaging	1.00
R0539:Abca14	UTSW	7	120207797	missense	probably damaging	1.00
R0574:Abca14	UTSW	7	120224497	missense	probably damaging	0.96
R0611:Abca14	UTSW	7	120252256	missense	possibly damaging	0.63
R0783:Abca14	UTSW	7	120294157	missense	probably damaging	1.00
R0785:Abca14	UTSW	7	120294157	missense	probably damaging	1.00
R0863:Abca14	UTSW	7	120216230	missense	probably benign	0.03
R1034:Abca14	UTSW	7	120216147	missense	probably damaging	1.00
R1056:Abca14	UTSW	7	120325072	missense	probably damaging	1.00
R1072:Abca14	UTSW	7	120212769	missense	probably benign
R1244:Abca14	UTSW	7	120216338	missense	probably benign	0.06
R1255:Abca14	UTSW	7	120207793	missense	probably damaging	0.97
R1271:Abca14	UTSW	7	120325117	missense	probably damaging	1.00
R1325:Abca14	UTSW	7	120247322	missense	probably benign	0.32
R1457:Abca14	UTSW	7	120289460	missense	probably benign	0.00
R1467:Abca14	UTSW	7	120216182	missense	possibly damaging	0.80
R1467:Abca14	UTSW	7	120216182	missense	possibly damaging	0.80
R1494:Abca14	UTSW	7	120216301	missense	probably benign	0.00
R1551:Abca14	UTSW	7	120318878	missense	probably benign	0.10
R1607:Abca14	UTSW	7	120251291	missense	probably damaging	1.00
R1739:Abca14	UTSW	7	120278306	missense	probably benign	0.04
R1856:Abca14	UTSW	7	120278181	missense	probably damaging	1.00
R1875:Abca14	UTSW	7	120247967	missense	possibly damaging	0.78
R1892:Abca14	UTSW	7	120216338	missense	probably benign	0.06
R1898:Abca14	UTSW	7	120251169	missense	probably damaging	1.00
R1958:Abca14	UTSW	7	120325159	missense	probably damaging	0.98
R2018:Abca14	UTSW	7	120216185	missense	probably benign	0.00
R2039:Abca14	UTSW	7	120312264	missense	probably damaging	0.98
R2060:Abca14	UTSW	7	120227518	nonsense	probably null
R2202:Abca14	UTSW	7	120289541	missense	probably benign	0.17
R2205:Abca14	UTSW	7	120247280	missense	probably damaging	0.98
R2360:Abca14	UTSW	7	120251208	missense	probably benign	0.00
R2401:Abca14	UTSW	7	120283089	missense	probably damaging	1.00
R2426:Abca14	UTSW	7	120283223	missense	probably benign	0.04
R3433:Abca14	UTSW	7	120294232	missense	probably damaging	0.97
R4598:Abca14	UTSW	7	120255403	missense	probably benign	0.11
R4599:Abca14	UTSW	7	120255403	missense	probably benign	0.11
R4700:Abca14	UTSW	7	120312705	critical splice donor site	probably null
R4751:Abca14	UTSW	7	120312177	missense	probably benign	0.01
R4826:Abca14	UTSW	7	120216247	missense	probably damaging	1.00
R4828:Abca14	UTSW	7	120216247	missense	probably damaging	1.00
R4837:Abca14	UTSW	7	120246980	missense	probably benign
R4881:Abca14	UTSW	7	120278249	missense	possibly damaging	0.49
R4895:Abca14	UTSW	7	120247349	critical splice donor site	probably null
R4928:Abca14	UTSW	7	120324580	missense	possibly damaging	0.90
R4990:Abca14	UTSW	7	120312165	missense	probably benign	0.00
R5027:Abca14	UTSW	7	120312282	missense	probably benign	0.05
R5091:Abca14	UTSW	7	120252274	missense	probably damaging	1.00
R5158:Abca14	UTSW	7	120253429	missense	probably benign
R5209:Abca14	UTSW	7	120232907	missense	probably benign	0.01
R5333:Abca14	UTSW	7	120289546	nonsense	probably null
R5424:Abca14	UTSW	7	120211554	missense	probably benign	0.01
R5488:Abca14	UTSW	7	120252250	missense	probably damaging	0.98
R5489:Abca14	UTSW	7	120252250	missense	probably damaging	0.98
R5716:Abca14	UTSW	7	120246994	critical splice donor site	probably null
R6450:Abca14	UTSW	7	120216226	missense	probably benign	0.17
R6477:Abca14	UTSW	7	120325102	missense	probably benign	0.44
R6652:Abca14	UTSW	7	120246941	missense	probably damaging	1.00
R6782:Abca14	UTSW	7	120248085	missense	probably damaging	1.00
R6874:Abca14	UTSW	7	120252205	missense	possibly damaging	0.71
R6965:Abca14	UTSW	7	120283229	nonsense	probably null
R7142:Abca14	UTSW	7	120251183	missense	possibly damaging	0.89
R7146:Abca14	UTSW	7	120255297	missense	probably benign	0.15
R7202:Abca14	UTSW	7	120318013	missense	probably damaging	1.00
R7220:Abca14	UTSW	7	120227444	missense	possibly damaging	0.45
R7241:Abca14	UTSW	7	120246961	missense	probably damaging	1.00
R7291:Abca14	UTSW	7	120289609	nonsense	probably null
R7296:Abca14	UTSW	7	120278311	missense	probably benign
R7298:Abca14	UTSW	7	120207883	missense	probably benign	0.00
R7315:Abca14	UTSW	7	120294118	missense	probably benign	0.00
R7776:Abca14	UTSW	7	120232991	critical splice donor site	probably null
R7820:Abca14	UTSW	7	120212721	missense	probably benign	0.42
R7873:Abca14	UTSW	7	120289569	missense	probably benign	0.17
R8215:Abca14	UTSW	7	120294202	missense	probably benign
R8332:Abca14	UTSW	7	120216213	missense	probably benign
R8419:Abca14	UTSW	7	120216266	missense	probably benign	0.08
R8444:Abca14	UTSW	7	120318910	missense	probably damaging	1.00
Z1088:Abca14	UTSW	7	120216135	missense	probably benign	0.14
Z1176:Abca14	UTSW	7	120246923	missense	probably damaging	1.00
Z1177:Abca14	UTSW	7	120317987	missense	probably damaging	1.00

Nature of Mutation

Multiple transcripts of the Abca14 gene are displayed on Ensembl.

Protein Function and Prediction

The Abca14 gene encodes a 1683 amino acid protein that belongs to the ATP-binding cassette (ABC) transporter superfamily. These transporters use the hydrolysis of ATP to export or import a wide variety of substrates ranging from small ions to macromolecules. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca14 has been cloned rat and mouse; no human orthologue has been described. The ABCA14 has two nucleotide-binding folds and two transmembrane domains. Abca14 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis.

Posted On

2013-01-31