Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00505:Abca15'

6262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A member 15

Synonyms

4930500I12Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00505

Quality Score

Status

Chromosome

Chromosomal Location

119927893-120006910 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 119968459 bp (GRCm39)

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 null
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 null
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

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	G	12: 52,933,885 (GRCm39)	H459R	possibly damaging	Het
Anxa5	A	G	3: 36,511,646 (GRCm39)	S144P	possibly damaging	Het
Cacna1h	T	G	17: 25,600,482 (GRCm39)	T1620P	probably damaging	Het
Cdc27	T	G	11: 104,412,258 (GRCm39)	T444P	probably benign	Het
Cfap46	C	T	7: 139,240,605 (GRCm39)	S56N	probably damaging	Het
Cntnap5b	A	G	1: 100,306,886 (GRCm39)	R868G	possibly damaging	Het
Cyp2j5	A	T	4: 96,519,012 (GRCm39)	N421K	probably damaging	Het
Dhcr7	T	C	7: 143,400,805 (GRCm39)	Y323H	probably damaging	Het
Dnai4	G	T	4: 102,960,439 (GRCm39)	S70R	possibly damaging	Het
Gabrq	T	C	X: 71,881,971 (GRCm39)	S601P	probably damaging	Het
Gm3404	T	A	5: 146,465,095 (GRCm39)	D278E	probably damaging	Het
Gpr61	A	G	3: 108,058,514 (GRCm39)	M49T	probably damaging	Het
Map3k20	T	C	2: 72,219,827 (GRCm39)	F253S	probably damaging	Het
Ndst3	G	A	3: 123,421,599 (GRCm39)		probably benign	Het
Rcor3	C	T	1: 191,812,271 (GRCm39)		probably benign	Het
Slc15a2	C	A	16: 36,574,137 (GRCm39)	C572F	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spaca1	A	G	4: 34,029,077 (GRCm39)	I132T	probably damaging	Het
Spag6	C	A	2: 18,738,995 (GRCm39)	N308K	probably benign	Het
Stac	C	T	9: 111,464,107 (GRCm39)	R53Q	probably damaging	Het
Tekt3	A	G	11: 62,961,064 (GRCm39)	S78G	probably benign	Het
Vdac3	C	T	8: 23,070,393 (GRCm39)	G172S	possibly damaging	Het
Wdr87-ps	A	C	7: 29,233,608 (GRCm39)		noncoding transcript	Het

Other mutations in Abca15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca15	APN	7	119,996,277 (GRCm39)	missense	probably damaging	1.00
IGL00851:Abca15	APN	7	119,939,230 (GRCm39)	missense	probably damaging	1.00
IGL00985:Abca15	APN	7	119,996,241 (GRCm39)	missense	probably damaging	1.00
IGL01114:Abca15	APN	7	119,960,643 (GRCm39)	missense	probably damaging	0.99
IGL01287:Abca15	APN	7	119,932,081 (GRCm39)	utr 3 prime	probably benign
IGL01333:Abca15	APN	7	119,981,531 (GRCm39)	missense	probably damaging	1.00
IGL01482:Abca15	APN	7	119,981,969 (GRCm39)	missense	probably benign	0.00
IGL01610:Abca15	APN	7	119,939,867 (GRCm39)	missense	probably damaging	0.98
IGL02238:Abca15	APN	7	119,995,829 (GRCm39)	missense	probably benign	0.02
IGL02377:Abca15	APN	7	119,965,133 (GRCm39)	splice site	probably benign
IGL02666:Abca15	APN	7	119,934,431 (GRCm39)	missense	probably damaging	1.00
IGL02836:Abca15	APN	7	119,987,439 (GRCm39)	missense	probably benign
IGL03337:Abca15	APN	7	119,995,930 (GRCm39)	missense	probably benign	0.24
IGL03354:Abca15	APN	7	119,993,711 (GRCm39)	nonsense	probably null
H8562:Abca15	UTSW	7	119,974,077 (GRCm39)	splice site	probably benign
IGL03098:Abca15	UTSW	7	119,987,499 (GRCm39)	splice site	probably null
R0029:Abca15	UTSW	7	119,945,225 (GRCm39)	missense	probably benign	0.01
R0029:Abca15	UTSW	7	119,945,225 (GRCm39)	missense	probably benign	0.01
R0076:Abca15	UTSW	7	119,972,908 (GRCm39)	splice site	probably benign
R0165:Abca15	UTSW	7	119,950,126 (GRCm39)	splice site	probably benign
R0311:Abca15	UTSW	7	120,002,127 (GRCm39)	missense	probably damaging	0.98
R0387:Abca15	UTSW	7	119,932,075 (GRCm39)	critical splice donor site	probably null
R0610:Abca15	UTSW	7	119,965,009 (GRCm39)	missense	possibly damaging	0.75
R0612:Abca15	UTSW	7	119,936,478 (GRCm39)	missense	probably damaging	1.00
R0704:Abca15	UTSW	7	119,953,746 (GRCm39)	missense	probably damaging	0.98
R0890:Abca15	UTSW	7	119,972,936 (GRCm39)	missense	probably benign	0.01
R0961:Abca15	UTSW	7	119,960,208 (GRCm39)	nonsense	probably null
R1144:Abca15	UTSW	7	119,960,083 (GRCm39)	splice site	probably benign
R1412:Abca15	UTSW	7	119,944,546 (GRCm39)	missense	possibly damaging	0.93
R1419:Abca15	UTSW	7	119,974,125 (GRCm39)	missense	probably benign	0.10
R1467:Abca15	UTSW	7	119,939,761 (GRCm39)	splice site	probably null
R1467:Abca15	UTSW	7	119,939,761 (GRCm39)	splice site	probably null
R1469:Abca15	UTSW	7	119,981,720 (GRCm39)	missense	probably benign	0.00
R1469:Abca15	UTSW	7	119,981,720 (GRCm39)	missense	probably benign	0.00
R1493:Abca15	UTSW	7	119,981,513 (GRCm39)	missense	probably benign	0.00
R1513:Abca15	UTSW	7	119,939,322 (GRCm39)	missense	probably damaging	0.96
R1702:Abca15	UTSW	7	119,981,925 (GRCm39)	missense	probably benign	0.10
R1857:Abca15	UTSW	7	119,960,592 (GRCm39)	missense	probably damaging	1.00
R1893:Abca15	UTSW	7	119,939,776 (GRCm39)	missense	possibly damaging	0.85
R1901:Abca15	UTSW	7	119,945,322 (GRCm39)	missense	probably damaging	1.00
R1951:Abca15	UTSW	7	119,960,655 (GRCm39)	missense	probably damaging	1.00
R1953:Abca15	UTSW	7	119,960,655 (GRCm39)	missense	probably damaging	1.00
R1962:Abca15	UTSW	7	119,940,468 (GRCm39)	missense	probably damaging	1.00
R2063:Abca15	UTSW	7	119,960,127 (GRCm39)	missense	possibly damaging	0.61
R2141:Abca15	UTSW	7	120,006,697 (GRCm39)	missense	probably damaging	1.00
R2145:Abca15	UTSW	7	119,953,701 (GRCm39)	missense	probably benign	0.08
R2182:Abca15	UTSW	7	119,939,450 (GRCm39)	nonsense	probably null
R2425:Abca15	UTSW	7	119,959,033 (GRCm39)	missense	probably damaging	1.00
R2444:Abca15	UTSW	7	119,965,120 (GRCm39)	missense	probably damaging	1.00
R3023:Abca15	UTSW	7	119,982,002 (GRCm39)	missense	probably benign	0.40
R3079:Abca15	UTSW	7	119,984,392 (GRCm39)	missense	probably damaging	1.00
R3106:Abca15	UTSW	7	119,995,856 (GRCm39)	missense	possibly damaging	0.63
R3622:Abca15	UTSW	7	119,950,036 (GRCm39)	nonsense	probably null
R4085:Abca15	UTSW	7	119,981,949 (GRCm39)	missense	probably damaging	1.00
R4233:Abca15	UTSW	7	120,002,202 (GRCm39)	nonsense	probably null
R4591:Abca15	UTSW	7	119,981,636 (GRCm39)	missense	probably damaging	1.00
R4612:Abca15	UTSW	7	119,934,384 (GRCm39)	missense	probably benign	0.03
R4721:Abca15	UTSW	7	119,949,998 (GRCm39)	missense	probably benign	0.01
R4838:Abca15	UTSW	7	119,944,523 (GRCm39)	missense	probably benign	0.00
R4940:Abca15	UTSW	7	119,931,917 (GRCm39)	missense	probably benign
R4963:Abca15	UTSW	7	119,960,142 (GRCm39)	missense	probably damaging	1.00
R4993:Abca15	UTSW	7	120,000,941 (GRCm39)	missense	probably damaging	0.99
R5022:Abca15	UTSW	7	119,945,319 (GRCm39)	missense	probably damaging	0.98
R5030:Abca15	UTSW	7	119,939,224 (GRCm39)	missense	probably damaging	1.00
R5072:Abca15	UTSW	7	120,006,198 (GRCm39)	missense	probably damaging	1.00
R5090:Abca15	UTSW	7	119,984,422 (GRCm39)	missense	probably damaging	1.00
R5309:Abca15	UTSW	7	119,944,592 (GRCm39)	missense	probably damaging	0.96
R5310:Abca15	UTSW	7	119,931,839 (GRCm39)	missense	possibly damaging	0.46
R5312:Abca15	UTSW	7	119,944,592 (GRCm39)	missense	probably damaging	0.96
R5482:Abca15	UTSW	7	119,968,370 (GRCm39)	missense	probably damaging	1.00
R5596:Abca15	UTSW	7	120,000,972 (GRCm39)	missense	possibly damaging	0.94
R5853:Abca15	UTSW	7	119,939,806 (GRCm39)	missense	probably benign	0.00
R5950:Abca15	UTSW	7	119,981,879 (GRCm39)	missense	probably damaging	1.00
R5953:Abca15	UTSW	7	119,960,241 (GRCm39)	missense	probably damaging	1.00
R6072:Abca15	UTSW	7	119,987,481 (GRCm39)	missense	probably damaging	0.98
R6131:Abca15	UTSW	7	119,939,428 (GRCm39)	missense	probably benign	0.03
R6132:Abca15	UTSW	7	119,960,643 (GRCm39)	missense	probably benign	0.14
R6136:Abca15	UTSW	7	119,939,272 (GRCm39)	missense	possibly damaging	0.81
R6207:Abca15	UTSW	7	119,973,017 (GRCm39)	missense	probably benign	0.01
R6315:Abca15	UTSW	7	119,945,315 (GRCm39)	missense	probably damaging	1.00
R6417:Abca15	UTSW	7	119,996,351 (GRCm39)	missense	possibly damaging	0.95
R6420:Abca15	UTSW	7	119,996,351 (GRCm39)	missense	possibly damaging	0.95
R6595:Abca15	UTSW	7	119,993,710 (GRCm39)	missense	probably benign	0.00
R6653:Abca15	UTSW	7	119,945,229 (GRCm39)	missense	probably benign	0.03
R6859:Abca15	UTSW	7	120,002,217 (GRCm39)	nonsense	probably null
R6983:Abca15	UTSW	7	119,953,686 (GRCm39)	missense	probably benign	0.26
R7127:Abca15	UTSW	7	119,931,825 (GRCm39)	missense	probably benign	0.06
R7205:Abca15	UTSW	7	119,993,587 (GRCm39)	missense	possibly damaging	0.89
R7336:Abca15	UTSW	7	119,987,456 (GRCm39)	missense	possibly damaging	0.66
R7426:Abca15	UTSW	7	119,945,221 (GRCm39)	missense	possibly damaging	0.88
R7745:Abca15	UTSW	7	119,931,440 (GRCm39)	missense	probably damaging	1.00
R7751:Abca15	UTSW	7	119,965,044 (GRCm39)	missense	possibly damaging	0.72
R7806:Abca15	UTSW	7	119,932,059 (GRCm39)	missense	probably damaging	0.96
R8042:Abca15	UTSW	7	120,002,233 (GRCm39)	missense	possibly damaging	0.95
R8098:Abca15	UTSW	7	119,960,619 (GRCm39)	missense	probably benign	0.09
R8153:Abca15	UTSW	7	119,999,812 (GRCm39)	missense	probably damaging	1.00
R8247:Abca15	UTSW	7	119,936,445 (GRCm39)	missense	possibly damaging	0.83
R8259:Abca15	UTSW	7	119,939,422 (GRCm39)	missense	probably benign	0.00
R8272:Abca15	UTSW	7	120,006,665 (GRCm39)	missense	probably damaging	1.00
R8295:Abca15	UTSW	7	119,974,188 (GRCm39)	missense	probably benign	0.00
R8757:Abca15	UTSW	7	120,006,631 (GRCm39)	missense	probably damaging	0.96
R8759:Abca15	UTSW	7	120,006,631 (GRCm39)	missense	probably damaging	0.96
R8905:Abca15	UTSW	7	119,960,771 (GRCm39)	missense	probably benign	0.28
R9145:Abca15	UTSW	7	119,987,388 (GRCm39)	missense	probably benign	0.13
R9217:Abca15	UTSW	7	119,987,439 (GRCm39)	missense	probably benign
R9264:Abca15	UTSW	7	120,001,056 (GRCm39)	missense	probably benign	0.14
R9517:Abca15	UTSW	7	119,987,424 (GRCm39)	missense	probably benign	0.07
RF018:Abca15	UTSW	7	119,993,683 (GRCm39)	missense	possibly damaging	0.50
Z1176:Abca15	UTSW	7	119,981,728 (GRCm39)	missense	probably damaging	0.99
Z1176:Abca15	UTSW	7	119,945,249 (GRCm39)	missense	probably benign	0.22

Posted On

2012-04-20