Mutagenetix > Incidental Mutation

Incidental Mutation 'R1034:Abca14'

95412

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

039133-MU

Accession Numbers

Genbank: NM_026458; MGI: 2388708

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1034 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

120203961-120325352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120216147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 206 (F206S)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084640
AA Change: F206S

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

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: F206S

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: ENSMUST00000130646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143257

Coding Region Coverage

1x: 98.7%
3x: 97.3%
10x: 92.9%
20x: 82.2%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 76,876,283	T174M	probably damaging	Het
Arid2	T	C	15: 96,369,505	V622A	probably benign	Het
Asic1	T	A	15: 99,698,058	L437Q	probably damaging	Het
Atp1b1	C	T	1: 164,453,488		probably null	Het
B3gnt5	A	G	16: 19,769,484	Y151C	probably damaging	Het
Cbx4	A	G	11: 119,081,707	S281P	probably damaging	Het
Dnah5	G	A	15: 28,302,471	V1625I	probably damaging	Het
Eftud2	A	C	11: 102,849,184	D461E	probably benign	Het
Epgn	A	G	5: 91,032,221	Y74C	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fgf14	C	T	14: 124,132,534	V113I	probably damaging	Het
Ggcx	G	A	6: 72,414,831	R68H	probably damaging	Het
Gm1110	A	G	9: 26,921,350	S16P	probably damaging	Het
Gm6729	T	C	10: 86,540,026		noncoding transcript	Het
Gpr108	A	G	17: 57,235,995	F522S	probably damaging	Het
Gpr156	T	C	16: 38,004,726	V435A	probably benign	Het
Khdrbs2	T	C	1: 32,467,791	L172P	probably damaging	Het
Kmo	C	T	1: 175,651,618	P240L	possibly damaging	Het
Ltn1	A	T	16: 87,397,137		probably null	Het
Nbeal1	T	A	1: 60,290,006	Y2194*	probably null	Het
Olfr767	T	A	10: 129,079,961	M1L	probably benign	Het
Olfr867	A	T	9: 20,055,365	S33T	probably benign	Het
Rab6b	T	C	9: 103,167,124	S172P	probably benign	Het
Ror1	T	A	4: 100,333,620	L58*	probably null	Het
Sec23b	A	G	2: 144,590,338	D756G	possibly damaging	Het
Slc24a2	T	A	4: 87,032,275	K428N	probably damaging	Het
Spen	C	A	4: 141,475,752	V1855L	probably benign	Het
Srgap1	G	A	10: 121,785,445	P1071S	possibly damaging	Het
Tns1	A	G	1: 73,941,969	C1079R	probably damaging	Het
Traf3ip1	G	T	1: 91,518,319		probably null	Het
Trmt2a	T	C	16: 18,249,709	F82S	probably damaging	Het
Xrn1	A	G	9: 96,039,737	D1401G	probably damaging	Het
Zfp352	T	A	4: 90,224,156	S178T	possibly damaging	Het
Zfp758	G	T	17: 22,375,759	E409*	probably null	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
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
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'- AGTTGTTACTGTCATCTCCCTGGCTGTA -3'
(R):5'- TCAGAAAATTGATCGTTGGCCCTGT -3'

Sequencing Primer
(F):5'- TGGCTGTATGTTACTATCCTGAAC -3'
(R):5'- CCCACAGGATGTCTATTTAGCAGAG -3'

Posted On

2014-01-05