Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Abca15'

503199

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

044341-MU

Accession Numbers

NCBI RefSeq: NM_177213.3; MGI:2388709

Essential gene?

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

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120373794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 864 (R864G)

Ref Sequence

ENSEMBL: ENSMUSP00000112821 (fasta)

Gene Model

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

AlphaFold

E9PWH4

Predicted Effect

probably benign
Transcript: ENSMUST00000076272
AA Change: R864G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: R864G

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
AA Change: R864G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: R864G

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,830,893	P69S	probably damaging	Het
Acbd5	T	C	2: 23,069,478	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,777,390		probably null	Het
Ak3	T	A	19: 29,022,940	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,206,614		probably null	Het
Calcrl	T	C	2: 84,333,530	H439R	probably benign	Het
Casp7	T	A	19: 56,441,020	D279E	possibly damaging	Het
Cckar	A	G	5: 53,699,844	V337A	probably benign	Het
Cep85l	T	C	10: 53,281,555	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Homo
Commd7	T	C	2: 153,632,610	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,294,773	I365F	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dot1l	C	T	10: 80,786,443	A831V	probably benign	Het
Epcam	C	A	17: 87,640,436	N111K	probably damaging	Het
Etnk1	A	G	6: 143,180,798	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,281,950	E221V	probably damaging	Het
Fam189a2	T	C	19: 23,973,438	E593G	probably damaging	Het
Fbl	T	C	7: 28,174,853	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,896,530	Y82*	probably null	Het
Fer1l5	A	G	1: 36,385,160	K285R	probably damaging	Het
Foxn3	G	T	12: 99,196,310	T444K	probably damaging	Het
Gak	C	T	5: 108,625,029		probably null	Het
Gprc6a	T	C	10: 51,626,835	I311V	probably benign	Het
Hrg	T	C	16: 22,954,538		probably null	Het
Htatip2	G	A	7: 49,770,819	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,487,522		probably benign	Het
Kcnq2	T	C	2: 181,113,233	M174V	possibly damaging	Het
Krt39	G	T	11: 99,521,215	P15Q	probably damaging	Het
L1td1	G	A	4: 98,737,418	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,829,382	K88*	probably null	Het
Lims1	A	T	10: 58,394,564	K49M	possibly damaging	Het
Man2a1	T	C	17: 64,713,605	V792A	probably benign	Het
Mcm2	G	T	6: 88,885,862	D749E	probably benign	Het
Mdga1	G	A	17: 29,838,517	T775M	probably damaging	Het
Myb	A	G	10: 21,145,322	S403P	probably benign	Het
Nek6	T	C	2: 38,557,834	S37P	possibly damaging	Het
Olfr149	T	C	9: 39,702,310	H153R	probably benign	Het
Olfr310	A	C	7: 86,269,760	F10V	probably damaging	Het
Olfr622	A	G	7: 103,640,002	V46A	probably benign	Het
Olfr663	G	A	7: 104,703,611	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Prune2	T	A	19: 17,118,116	I328N	probably damaging	Het
Psap	T	A	10: 60,300,538	C484S	probably damaging	Het
Pus1	T	C	5: 110,777,714	D80G	probably benign	Het
Rasa3	T	C	8: 13,598,251	T138A	possibly damaging	Het
Scaf1	G	T	7: 45,007,623		probably benign	Het
Skap1	T	A	11: 96,704,133	Y143*	probably null	Het
Slc22a20	A	G	19: 5,985,941	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,329,064	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,189,125	T154I	possibly damaging	Het
Snai1	T	A	2: 167,538,309	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,210,735	M84K	probably benign	Het
Spop	G	T	11: 95,471,237	K31N	possibly damaging	Het
Surf1	T	C	2: 26,914,807	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,146,339	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,055,837	A67V	probably damaging	Het
Timd4	A	T	11: 46,815,526	M52L	probably damaging	Het
Trav16	A	T	14: 53,743,588	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,908	T147A	probably damaging	Het
Tulp1	A	T	17: 28,358,677		probably benign	Het
Ubqlnl	A	T	7: 104,148,708	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,421,248	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,758,628	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,406,505	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 42,260,192	H47L	probably benign	Het
Vwa5a	A	G	9: 38,722,672	E57G	probably damaging	Het
Zfp180	A	T	7: 24,105,085	R310*	probably null	Het
Zfp672	T	C	11: 58,317,523		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
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
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'- AAAGTGCCTTTGGAGTCAGG -3'
(R):5'- TCATTGATCAGGCTGGGGTC -3'

Sequencing Primer
(F):5'- AGGGGTTGCCACTCACATTC -3'
(R):5'- AGGCTGGGGTCCCAACTTTTC -3'

Posted On

2018-02-27