Mutagenetix > Incidental Mutation

Incidental Mutation 'R4233:Abca15'

320962

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

041642-MU

Accession Numbers

NCBI RefSeq: NM_177213.3; MGI:2388709

Is this an essential gene?

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

Stock #

R4233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 120402979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1572 (Q1572*)

Ref Sequence

ENSEMBL: ENSMUSP00000112821 (fasta)

Gene Model

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

AlphaFold

E9PWH4

Predicted Effect

probably null
Transcript: ENSMUST00000076272
AA Change: Q1572*

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: Q1572*

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 null
Transcript: ENSMUST00000121265
AA Change: Q1572*

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: Q1572*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	T	5: 138,564,192	Y96N	probably damaging	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Ankfy1	G	A	11: 72,714,484		probably null	Het
Aph1c	A	G	9: 66,833,321	F41S	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Arhgef40	T	C	14: 51,990,171	V458A	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Ccar2	T	C	14: 70,151,091	T169A	possibly damaging	Het
Cfap58	G	A	19: 47,975,555	V541M	possibly damaging	Het
Coro2b	T	C	9: 62,426,185	E376G	possibly damaging	Het
Dnah11	T	C	12: 117,916,791	T3865A	probably damaging	Het
Dync2h1	T	C	9: 7,134,360	E1549G	probably benign	Het
Ercc6l2	T	C	13: 63,872,168		probably benign	Het
Fam160b2	A	C	14: 70,586,878	V473G	probably damaging	Het
Fbxo32	G	T	15: 58,192,333	T135K	possibly damaging	Het
Fras1	A	T	5: 96,714,376	I2205F	possibly damaging	Het
Gm12034	A	G	11: 20,446,785		noncoding transcript	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Gm5108	C	A	5: 67,975,153	T55K	unknown	Het
Gpa33	A	T	1: 166,146,771	D59V	probably damaging	Het
Gpn2	T	A	4: 133,584,705	Y83N	probably damaging	Het
Gzf1	C	T	2: 148,686,533	P460S	possibly damaging	Het
Ifi203	A	T	1: 173,936,533	S124R	possibly damaging	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ldlrap1	T	A	4: 134,757,338		probably null	Het
Madd	T	C	2: 91,178,236	E107G	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr658	A	G	7: 104,644,988	V126A	probably benign	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	T	1: 97,864,394	V434D	possibly damaging	Het
Plxnd1	T	C	6: 115,965,953	N1257D	probably benign	Het
Prkdc	C	T	16: 15,835,919	A3870V	probably benign	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryr2	T	C	13: 11,750,725	D1375G	probably benign	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slc13a2	A	G	11: 78,403,535		probably benign	Het
Slc7a13	T	C	4: 19,819,070	F90S	probably damaging	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Stard13	A	G	5: 151,062,699	S331P	probably benign	Het
Sult2a8	T	A	7: 14,413,683	I228L	probably benign	Het
Tas2r140	A	T	6: 133,054,952	V281D	probably damaging	Het
Tmem38b	T	C	4: 53,840,710	C66R	probably damaging	Het
Tshz1	C	A	18: 84,016,195	E29D	probably benign	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATTGGAAGATGCAACTTGTGG -3'
(R):5'- CTGGGTATCAGTAACACAGGGATAC -3'

Sequencing Primer
(F):5'- TGGTTGATAACAAGATCCTGGC -3'
(R):5'- CCTTGTGGGTAGTGAGAAC -3'

Posted On

2015-06-12