Mutagenetix > Incidental Mutation

Incidental Mutation 'R0783:Abca14'

216190

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

038963-MU

Accession Numbers

Genbank: NM_026458; MGI: 2388708

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0783 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120203961-120325352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120294157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1277 (G1277R)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084640
AA Change: G1277R

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

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: G1277R

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,595,238		probably null	Het
Acsm2	G	A	7: 119,573,117	G61D	probably damaging	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Bbs9	T	C	9: 22,567,714	L151S	possibly damaging	Het
Camk2g	T	A	14: 20,744,636	T173S	possibly damaging	Het
Eif3b	T	C	5: 140,419,837		probably benign	Het
Eif3i	A	C	4: 129,592,076	F319V	possibly damaging	Het
Eprs	T	C	1: 185,398,458	L672P	probably damaging	Het
Fras1	C	T	5: 96,768,430	A3441V	probably damaging	Het
Gigyf2	T	A	1: 87,407,161	M79K	probably damaging	Het
Grrp1	G	A	4: 134,252,057	R37C	probably damaging	Het
Hdac1	T	C	4: 129,518,109	N331S	probably benign	Het
Hmcn1	C	T	1: 150,650,073	G3300S	probably damaging	Het
Iars2	T	C	1: 185,320,874	E400G	probably damaging	Het
Irx2	T	C	13: 72,632,650		probably null	Het
Itih4	G	A	14: 30,895,423	E567K	possibly damaging	Het
Klhl5	T	A	5: 65,156,253		probably benign	Het
Klk8	G	A	7: 43,802,197	G204E	probably damaging	Het
Loxhd1	T	C	18: 77,429,984	F1843L	possibly damaging	Het
Mllt6	T	C	11: 97,665,745	V87A	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nhlrc3	A	T	3: 53,462,449	S34T	probably benign	Het
Olfr1099	A	G	2: 86,958,562	C299R	probably benign	Het
Olfr1224-ps1	A	T	2: 89,156,891	C95S	probably benign	Het
Olfr1494	T	C	19: 13,749,676	L190P	probably damaging	Het
Olfr193	A	T	16: 59,110,169	L147*	probably null	Het
Olfr549	A	G	7: 102,554,439	I52V	probably benign	Het
Olfr593	T	C	7: 103,212,670	F259S	probably damaging	Het
Pcnx4	T	C	12: 72,575,478	W1074R	probably damaging	Het
Pcsk9	T	C	4: 106,450,117	T310A	probably benign	Het
Pfas	A	G	11: 69,000,521	L250P	probably damaging	Het
Plk5	T	A	10: 80,361,130	D352E	probably benign	Het
Ryr3	A	G	2: 112,756,327		probably benign	Het
Serinc3	A	G	2: 163,637,003	I68T	possibly damaging	Het
Sez6l2	A	G	7: 126,967,145	T810A	possibly damaging	Het
Tmprss7	G	A	16: 45,667,606	Q487*	probably null	Het
Tnf	A	G	17: 35,201,674	I56T	probably damaging	Het
Ttbk2	A	T	2: 120,739,977	S1163T	possibly damaging	Het
Ttn	G	A	2: 76,743,530	T23927I	probably damaging	Het
Urb1	G	A	16: 90,810,297	A15V	possibly damaging	Het
Zfp128	C	T	7: 12,890,272	P189L	probably damaging	Het
Zfr	T	C	15: 12,162,182	V806A	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
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
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

Posted On

2014-07-28