Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Abca14'

155851

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

038491-MU

Accession Numbers

Genbank: NM_026458; MGI: 2388708

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0265 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120203961-120325352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120223627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 321 (I321V)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably benign
Transcript: ENSMUST00000084640
AA Change: I321V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: I321V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143257

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952		probably null	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Skor2	A	T	18: 76,876,598	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204		probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	probably 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
R0109:Abca14	UTSW	7	120318762	nonsense	probably null
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
R8818:Abca14	UTSW	7	120216301	missense	probably benign	0.00
R8834:Abca14	UTSW	7	120278149	missense	probably benign	0.02
R8845:Abca14	UTSW	7	120247205	missense	probably benign	0.00
R8889:Abca14	UTSW	7	120216383	missense	probably damaging	1.00
R8892:Abca14	UTSW	7	120216383	missense	probably damaging	1.00
R8894:Abca14	UTSW	7	120248145	missense	probably damaging	1.00
R8903:Abca14	UTSW	7	120216303	missense	probably damaging	0.98
R8950:Abca14	UTSW	7	120224372	missense	possibly damaging	0.92
R8950:Abca14	UTSW	7	120224421	nonsense	probably null
R9018:Abca14	UTSW	7	120289540	missense	probably benign	0.01
R9018:Abca14	UTSW	7	120319309	missense	probably damaging	0.98
R9110:Abca14	UTSW	7	120232392	intron	probably benign
R9254:Abca14	UTSW	7	120207979	nonsense	probably null
R9376:Abca14	UTSW	7	120294215	missense	probably damaging	1.00
R9378:Abca14	UTSW	7	120207968	missense	possibly damaging	0.64
R9379:Abca14	UTSW	7	120207979	nonsense	probably null
R9388:Abca14	UTSW	7	120283038	missense	probably benign	0.01
R9445:Abca14	UTSW	7	120278468	missense	probably benign	0.05
R9522:Abca14	UTSW	7	120248145	missense	probably null	0.98
R9577:Abca14	UTSW	7	120211545	missense	probably benign	0.27
R9627:Abca14	UTSW	7	120255307	missense	probably benign	0.00
R9639:Abca14	UTSW	7	120294122	missense	probably benign	0.01
R9660:Abca14	UTSW	7	120252255	missense	probably benign	0.00
R9696:Abca14	UTSW	7	120289511	missense	possibly damaging	0.59
R9709:Abca14	UTSW	7	120289516	nonsense	probably null
R9780:Abca14	UTSW	7	120312224	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- AGTGTGCTTTTCATGACCCTTGGC -3'
(R):5'- TGCTTCCTGAACGAGAGTTTCTTCC -3'

Sequencing Primer
(F):5'- ACCCTTGGCTTGTGTTGATTC -3'
(R):5'- TACGAAGGGCCATTCATCTG -3'

Posted On

2014-02-10