Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Abca15'

16991

Institutional Source

Beutler Lab

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

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

Synonyms

4930500I12Rik

MMRRC Submission

038363-MU

Accession Numbers

NCBI RefSeq: NM_177213.3; MGI:2388709

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 120373685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112821 (fasta)

Gene Model

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

AlphaFold

E9PWH4

Predicted Effect

probably benign
Transcript: ENSMUST00000076272

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746

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 benign
Transcript: ENSMUST00000121265

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746

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

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	A	G	9: 104,324,218		probably benign	Het
Ada	T	A	2: 163,727,603		probably benign	Het
Ankrd17	T	A	5: 90,244,406	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274		probably benign	Het
Cd19	T	C	7: 126,410,862	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840		probably benign	Het
Cerkl	A	T	2: 79,343,289	S259T	possibly damaging	Het
Cog8	T	C	8: 107,054,133	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497		probably null	Het
Dcc	G	A	18: 71,321,046	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486		probably benign	Het
Dus1l	A	T	11: 120,792,808		probably benign	Het
Dvl2	G	A	11: 70,008,100	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655		probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705		probably benign	Het
Ifitm6	T	A	7: 141,016,007	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059		probably benign	Het
Maats1	G	A	16: 38,302,684	Q661*	probably null	Het
Mark1-ps1	T	A	17: 53,947,877		noncoding transcript	Het
Mndal	G	T	1: 173,874,447	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442		probably benign	Het
Mthfsd	C	A	8: 121,098,739	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414		probably benign	Het
Polr2b	T	A	5: 77,326,561	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039		probably benign	Het
Rad54b	G	A	4: 11,609,480		probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937		probably benign	Het
Slco2b1	A	T	7: 99,685,501	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217		probably null	Het
Vmn2r84	A	G	10: 130,394,193	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694		probably benign	Het
Zfp532	T	A	18: 65,685,627	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209	E5K	probably benign	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
IGL01610:Abca15	APN	7	120340644	missense	probably damaging	0.98
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
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

Protein Function and Prediction

Abca15 encodes ABCA15, a member of the ATP-binding cassette (ABC) transporter superfamily. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca15 has been cloned rat and mouse; no human orthologue has been described. The ABCA15 has two nucleotide-binding folds and two transmembrane domains. Abca15 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis.

Posted On

2013-01-20