Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01524:Abca14'

89514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca14

Ensembl Gene

ENSMUSG00000062017

Gene Name

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

Synonyms

1700110B15Rik, 4930539G24Rik

Accession Numbers

Genbank: NM_026458; MGI: 2388708

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

120203961-120325352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120253421 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 870 (Y870H)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084640
AA Change: Y870H

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: Y870H

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,382	D1081G	possibly damaging	Het
Aadat	A	T	8: 60,516,072	D117V	probably damaging	Het
Ankrd36	T	C	11: 5,635,092	I301T	probably benign	Het
Atp10b	T	A	11: 43,259,845	S1457T	probably benign	Het
Ccdc175	G	A	12: 72,131,142		probably benign	Het
Ccdc93	A	G	1: 121,461,899	K224E	probably benign	Het
Cep131	C	T	11: 120,065,960	A886T	probably damaging	Het
Clip1	A	C	5: 123,579,379	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 173,117,384	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,671,056	V112I	probably benign	Het
D3Ertd254e	T	C	3: 36,164,580	Y251H	possibly damaging	Het
Fhod3	T	C	18: 25,130,602	I1521T	probably damaging	Het
Gipc2	A	G	3: 152,137,577	I141T	probably damaging	Het
Glo1	T	C	17: 30,596,419	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,372,801	A140E	probably damaging	Het
Kynu	A	G	2: 43,671,382	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,579,883	I174N	probably damaging	Het
Nat10	T	A	2: 103,757,757	N8Y	probably damaging	Het
Nhlrc2	A	G	19: 56,576,155	I304V	probably benign	Het
Pdk4	T	C	6: 5,491,979	H31R	probably damaging	Het
Sema6d	T	C	2: 124,664,075	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,702,388	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,538,549	S12P	probably benign	Het
Spats2	C	T	15: 99,212,246	A508V	probably benign	Het
Tinag	A	G	9: 77,045,538	Y55H	probably damaging	Het
Topbp1	T	C	9: 103,311,645	I172T	possibly damaging	Het
Trim17	A	G	11: 58,970,597	T279A	probably damaging	Het
Vmn1r216	C	A	13: 23,099,349	N67K	probably benign	Het
Washc4	T	C	10: 83,576,132	L709P	probably benign	Het
Xdh	T	C	17: 73,923,137		probably null	Het
Zfhx4	C	T	3: 5,243,976	P754L	probably damaging	Het
Zfp623	C	A	15: 75,947,679	S161R	probably benign	Het
Zmat3	G	A	3: 32,341,678	R227C	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
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
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
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

Posted On

2013-12-03