Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Abca15'

91986

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 15

Synonyms

4930500I12Rik

Accession Numbers

NCBI RefSeq: NM_177213.3; MGI:2388709

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120340644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 323 (V323D)

Ref Sequence

ENSEMBL: ENSMUSP00000112821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076272] [ENSMUST00000121265]

AlphaFold

E9PWH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076272
AA Change: V323D

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: V323D

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	24	464	5.7e-21	PFAM
AAA	550	732	9.14e-11	SMART
Pfam:ABC2_membrane_3	892	1293	7.9e-24	PFAM
AAA	1381	1565	1.16e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121265
AA Change: V323D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: V323D

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	24	464	2.1e-21	PFAM
AAA	550	732	9.14e-11	SMART
Pfam:ABC2_membrane_3	907	1293	1e-25	PFAM
AAA	1381	1565	1.16e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140459

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,199,566		probably benign	Het
2810474O19Rik	C	T	6: 149,328,951	T1165M	probably benign	Het
4921524J17Rik	T	C	8: 85,412,242	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,851,565		probably benign	Het
Acot10	T	C	15: 20,665,695	Y320C	probably damaging	Het
Acp6	T	A	3: 97,175,720	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,418,114	Q478K	probably damaging	Het
Akap13	A	T	7: 75,747,605	I2528F	probably damaging	Het
Akap13	A	G	7: 75,720,180	I1843V	possibly damaging	Het
Akap9	G	A	5: 4,032,839	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,413,547	V490M	probably damaging	Het
Aspm	C	T	1: 139,489,670	R1537*	probably null	Het
Bmf	G	A	2: 118,549,158	P46S	probably benign	Het
Brf1	T	A	12: 112,988,083	H92L	probably benign	Het
Chchd1	A	G	14: 20,703,177	N35S	probably benign	Het
Cntnap3	C	T	13: 64,757,301	G889S	probably damaging	Het
Col6a4	T	C	9: 106,047,707		probably benign	Het
Crispld1	A	G	1: 17,746,725		probably null	Het
Ddx27	T	C	2: 167,022,044		probably benign	Het
Dennd1b	A	G	1: 139,169,766		probably benign	Het
Dennd4a	T	C	9: 64,906,884	V1461A	probably damaging	Het
Drc7	C	T	8: 95,077,802	R843W	probably damaging	Het
Dync2li1	A	G	17: 84,628,314	E13G	probably damaging	Het
Egf	A	G	3: 129,706,260		probably benign	Het
Hpse2	T	C	19: 43,384,789	S134G	probably benign	Het
Hydin	A	G	8: 110,557,713	T3206A	probably benign	Het
Ier5l	T	A	2: 30,473,954	S20C	probably damaging	Het
Il1r1	A	G	1: 40,302,400	E324G	probably benign	Het
Kdm4b	C	T	17: 56,353,522		probably benign	Het
Lztfl1	T	A	9: 123,700,091	E298D	probably benign	Het
Myo1b	A	T	1: 51,776,246	M647K	probably damaging	Het
Olfr1106	G	T	2: 87,048,288		probably benign	Het
Olfr539	C	T	7: 140,667,671	A128V	probably damaging	Het
Olfr619	A	T	7: 103,604,067	T138S	probably benign	Het
Parvb	A	T	15: 84,303,465	K258M	probably damaging	Het
Pcdhb11	T	G	18: 37,423,359	S581A	probably benign	Het
Pcnx2	C	A	8: 125,839,633	A1024S	possibly damaging	Het
Pde4a	T	C	9: 21,211,350		probably benign	Het
Pgr	A	T	9: 8,903,691	H571L	possibly damaging	Het
Phf20	G	T	2: 156,302,889	E806*	probably null	Het
Pilra	T	A	5: 137,835,541	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,753,311	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,248,481	N708S	probably benign	Het
Rnase4	A	T	14: 51,104,921	Y34F	probably damaging	Het
Ropn1	A	T	16: 34,666,771	I26F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,466,299	T85S	probably benign	Het
Scaf8	C	T	17: 3,195,849	P738S	probably damaging	Het
Sec31a	A	T	5: 100,402,358		probably benign	Het
Sel1l	C	T	12: 91,817,290	V459I	probably damaging	Het
Senp7	A	T	16: 56,175,823	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,198,002	K151N	probably benign	Het
Slc8a3	A	G	12: 81,315,802	F81S	probably damaging	Het
Spire2	T	A	8: 123,356,763	L162Q	probably damaging	Het
Syt17	A	G	7: 118,433,993	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,704,044	V379D	probably damaging	Het
Tenm3	A	T	8: 48,254,477	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,319,575		noncoding transcript	Het
Ttc13	T	C	8: 124,676,344	D552G	probably damaging	Het
Tuba3a	G	T	6: 125,278,566	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 22,827,807	V103E	probably damaging	Het
Vmn1r80	A	G	7: 12,193,380	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,703,230	F141Y	probably damaging	Het
Zfp143	T	A	7: 110,074,126	Y143*	probably null	Het
Zfp207	T	A	11: 80,385,970	C26S	probably damaging	Het

Other mutations in Abca15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca15	APN	7	120397054	missense	probably damaging	1.00
IGL00505:Abca15	APN	7	120369236	critical splice donor site	probably null
IGL00851:Abca15	APN	7	120340007	missense	probably damaging	1.00
IGL00985:Abca15	APN	7	120397018	missense	probably damaging	1.00
IGL01114:Abca15	APN	7	120361420	missense	probably damaging	0.99
IGL01287:Abca15	APN	7	120332858	utr 3 prime	probably benign
IGL01333:Abca15	APN	7	120382308	missense	probably damaging	1.00
IGL01482:Abca15	APN	7	120382746	missense	probably benign	0.00
IGL02238:Abca15	APN	7	120396606	missense	probably benign	0.02
IGL02377:Abca15	APN	7	120365910	splice site	probably benign
IGL02666:Abca15	APN	7	120335208	missense	probably damaging	1.00
IGL02836:Abca15	APN	7	120388216	missense	probably benign
IGL03337:Abca15	APN	7	120396707	missense	probably benign	0.24
IGL03354:Abca15	APN	7	120394488	nonsense	probably null
H8562:Abca15	UTSW	7	120374854	splice site	probably benign
IGL03098:Abca15	UTSW	7	120388276	splice site	probably null
R0029:Abca15	UTSW	7	120346002	missense	probably benign	0.01
R0029:Abca15	UTSW	7	120346002	missense	probably benign	0.01
R0076:Abca15	UTSW	7	120373685	splice site	probably benign
R0165:Abca15	UTSW	7	120350903	splice site	probably benign
R0311:Abca15	UTSW	7	120402904	missense	probably damaging	0.98
R0387:Abca15	UTSW	7	120332852	critical splice donor site	probably null
R0610:Abca15	UTSW	7	120365786	missense	possibly damaging	0.75
R0612:Abca15	UTSW	7	120337255	missense	probably damaging	1.00
R0704:Abca15	UTSW	7	120354523	missense	probably damaging	0.98
R0890:Abca15	UTSW	7	120373713	missense	probably benign	0.01
R0961:Abca15	UTSW	7	120360985	nonsense	probably null
R1144:Abca15	UTSW	7	120360860	splice site	probably benign
R1412:Abca15	UTSW	7	120345323	missense	possibly damaging	0.93
R1419:Abca15	UTSW	7	120374902	missense	probably benign	0.10
R1467:Abca15	UTSW	7	120340538	splice site	probably null
R1467:Abca15	UTSW	7	120340538	splice site	probably null
R1469:Abca15	UTSW	7	120382497	missense	probably benign	0.00
R1469:Abca15	UTSW	7	120382497	missense	probably benign	0.00
R1493:Abca15	UTSW	7	120382290	missense	probably benign	0.00
R1513:Abca15	UTSW	7	120340099	missense	probably damaging	0.96
R1702:Abca15	UTSW	7	120382702	missense	probably benign	0.10
R1857:Abca15	UTSW	7	120361369	missense	probably damaging	1.00
R1893:Abca15	UTSW	7	120340553	missense	possibly damaging	0.85
R1901:Abca15	UTSW	7	120346099	missense	probably damaging	1.00
R1951:Abca15	UTSW	7	120361432	missense	probably damaging	1.00
R1953:Abca15	UTSW	7	120361432	missense	probably damaging	1.00
R1962:Abca15	UTSW	7	120341245	missense	probably damaging	1.00
R2063:Abca15	UTSW	7	120360904	missense	possibly damaging	0.61
R2141:Abca15	UTSW	7	120407474	missense	probably damaging	1.00
R2145:Abca15	UTSW	7	120354478	missense	probably benign	0.08
R2182:Abca15	UTSW	7	120340227	nonsense	probably null
R2425:Abca15	UTSW	7	120359810	missense	probably damaging	1.00
R2444:Abca15	UTSW	7	120365897	missense	probably damaging	1.00
R3023:Abca15	UTSW	7	120382779	missense	probably benign	0.40
R3079:Abca15	UTSW	7	120385169	missense	probably damaging	1.00
R3106:Abca15	UTSW	7	120396633	missense	possibly damaging	0.63
R3622:Abca15	UTSW	7	120350813	nonsense	probably null
R4085:Abca15	UTSW	7	120382726	missense	probably damaging	1.00
R4233:Abca15	UTSW	7	120402979	nonsense	probably null
R4591:Abca15	UTSW	7	120382413	missense	probably damaging	1.00
R4612:Abca15	UTSW	7	120335161	missense	probably benign	0.03
R4721:Abca15	UTSW	7	120350775	missense	probably benign	0.01
R4838:Abca15	UTSW	7	120345300	missense	probably benign	0.00
R4940:Abca15	UTSW	7	120332694	missense	probably benign
R4963:Abca15	UTSW	7	120360919	missense	probably damaging	1.00
R4993:Abca15	UTSW	7	120401718	missense	probably damaging	0.99
R5022:Abca15	UTSW	7	120346096	missense	probably damaging	0.98
R5030:Abca15	UTSW	7	120340001	missense	probably damaging	1.00
R5072:Abca15	UTSW	7	120406975	missense	probably damaging	1.00
R5090:Abca15	UTSW	7	120385199	missense	probably damaging	1.00
R5309:Abca15	UTSW	7	120345369	missense	probably damaging	0.96
R5310:Abca15	UTSW	7	120332616	missense	possibly damaging	0.46
R5312:Abca15	UTSW	7	120345369	missense	probably damaging	0.96
R5482:Abca15	UTSW	7	120369147	missense	probably damaging	1.00
R5596:Abca15	UTSW	7	120401749	missense	possibly damaging	0.94
R5853:Abca15	UTSW	7	120340583	missense	probably benign	0.00
R5950:Abca15	UTSW	7	120382656	missense	probably damaging	1.00
R5953:Abca15	UTSW	7	120361018	missense	probably damaging	1.00
R6072:Abca15	UTSW	7	120388258	missense	probably damaging	0.98
R6131:Abca15	UTSW	7	120340205	missense	probably benign	0.03
R6132:Abca15	UTSW	7	120361420	missense	probably benign	0.14
R6136:Abca15	UTSW	7	120340049	missense	possibly damaging	0.81
R6207:Abca15	UTSW	7	120373794	missense	probably benign	0.01
R6315:Abca15	UTSW	7	120346092	missense	probably damaging	1.00
R6417:Abca15	UTSW	7	120397128	missense	possibly damaging	0.95
R6420:Abca15	UTSW	7	120397128	missense	possibly damaging	0.95
R6595:Abca15	UTSW	7	120394487	missense	probably benign	0.00
R6653:Abca15	UTSW	7	120346006	missense	probably benign	0.03
R6859:Abca15	UTSW	7	120402994	nonsense	probably null
R6983:Abca15	UTSW	7	120354463	missense	probably benign	0.26
R7127:Abca15	UTSW	7	120332602	missense	probably benign	0.06
R7205:Abca15	UTSW	7	120394364	missense	possibly damaging	0.89
R7336:Abca15	UTSW	7	120388233	missense	possibly damaging	0.66
R7426:Abca15	UTSW	7	120345998	missense	possibly damaging	0.88
R7745:Abca15	UTSW	7	120332217	missense	probably damaging	1.00
R7751:Abca15	UTSW	7	120365821	missense	possibly damaging	0.72
R7806:Abca15	UTSW	7	120332836	missense	probably damaging	0.96
R8042:Abca15	UTSW	7	120403010	missense	possibly damaging	0.95
R8098:Abca15	UTSW	7	120361396	missense	probably benign	0.09
R8153:Abca15	UTSW	7	120400589	missense	probably damaging	1.00
R8247:Abca15	UTSW	7	120337222	missense	possibly damaging	0.83
R8259:Abca15	UTSW	7	120340199	missense	probably benign	0.00
R8272:Abca15	UTSW	7	120407442	missense	probably damaging	1.00
R8295:Abca15	UTSW	7	120374965	missense	probably benign	0.00
R8757:Abca15	UTSW	7	120407408	missense	probably damaging	0.96
R8759:Abca15	UTSW	7	120407408	missense	probably damaging	0.96
R8905:Abca15	UTSW	7	120361548	missense	probably benign	0.28
R9145:Abca15	UTSW	7	120388165	missense	probably benign	0.13
R9217:Abca15	UTSW	7	120388216	missense	probably benign
R9264:Abca15	UTSW	7	120401833	missense	probably benign	0.14
R9517:Abca15	UTSW	7	120388201	missense	probably benign	0.07
RF018:Abca15	UTSW	7	120394460	missense	possibly damaging	0.50
Z1176:Abca15	UTSW	7	120346026	missense	probably benign	0.22
Z1176:Abca15	UTSW	7	120382505	missense	probably damaging	0.99

Posted On

2013-12-09