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 member 15

Synonyms

4930500I12Rik

MMRRC Submission

044341-MU

Accession Numbers

Essential gene?

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

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119927893-120006910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119973017 bp (GRCm39)

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: 126,430,065 (GRCm39)	P69S	probably damaging	Het
Acbd5	T	C	2: 22,959,490 (GRCm39)	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,604,955 (GRCm39)		probably null	Het
Ak3	T	A	19: 29,000,340 (GRCm39)	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,183,575 (GRCm39)		probably null	Het
Calcrl	T	C	2: 84,163,874 (GRCm39)	H439R	probably benign	Het
Casp7	T	A	19: 56,429,452 (GRCm39)	D279E	possibly damaging	Het
Cckar	A	G	5: 53,857,186 (GRCm39)	V337A	probably benign	Het
Cep85l	T	C	10: 53,157,651 (GRCm39)	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Homo
Commd7	T	C	2: 153,474,530 (GRCm39)	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,271,734 (GRCm39)	I365F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dot1l	C	T	10: 80,622,277 (GRCm39)	A831V	probably benign	Het
Entrep1	T	C	19: 23,950,802 (GRCm39)	E593G	probably damaging	Het
Epcam	C	A	17: 87,947,864 (GRCm39)	N111K	probably damaging	Het
Etnk1	A	G	6: 143,126,524 (GRCm39)	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,415,017 (GRCm39)	E221V	probably damaging	Het
Fbl	T	C	7: 27,874,278 (GRCm39)	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,874,251 (GRCm39)	Y82*	probably null	Het
Fer1l5	A	G	1: 36,424,241 (GRCm39)	K285R	probably damaging	Het
Foxn3	G	T	12: 99,162,569 (GRCm39)	T444K	probably damaging	Het
Gak	C	T	5: 108,772,895 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,502,931 (GRCm39)	I311V	probably benign	Het
Hrg	T	C	16: 22,773,288 (GRCm39)		probably null	Het
Htatip2	G	A	7: 49,420,567 (GRCm39)	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,451,142 (GRCm39)		probably benign	Het
Kcnq2	T	C	2: 180,755,026 (GRCm39)	M174V	possibly damaging	Het
Krt39	G	T	11: 99,412,041 (GRCm39)	P15Q	probably damaging	Het
L1td1	G	A	4: 98,625,655 (GRCm39)	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,779,382 (GRCm39)	K88*	probably null	Het
Lims1	A	T	10: 58,230,386 (GRCm39)	K49M	possibly damaging	Het
Man2a1	T	C	17: 65,020,600 (GRCm39)	V792A	probably benign	Het
Mcm2	G	T	6: 88,862,844 (GRCm39)	D749E	probably benign	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Myb	A	G	10: 21,021,221 (GRCm39)	S403P	probably benign	Het
Nek6	T	C	2: 38,447,846 (GRCm39)	S37P	possibly damaging	Het
Or10d1b	T	C	9: 39,613,606 (GRCm39)	H153R	probably benign	Het
Or14c46	A	C	7: 85,918,968 (GRCm39)	F10V	probably damaging	Het
Or52a33	A	G	7: 103,289,209 (GRCm39)	V46A	probably benign	Het
Or56b2j	G	A	7: 104,352,818 (GRCm39)	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prune2	T	A	19: 17,095,480 (GRCm39)	I328N	probably damaging	Het
Psap	T	A	10: 60,136,317 (GRCm39)	C484S	probably damaging	Het
Pus1	T	C	5: 110,925,580 (GRCm39)	D80G	probably benign	Het
Rasa3	T	C	8: 13,648,251 (GRCm39)	T138A	possibly damaging	Het
Scaf1	G	T	7: 44,657,047 (GRCm39)		probably benign	Het
Skap1	T	A	11: 96,594,959 (GRCm39)	Y143*	probably null	Het
Slc22a20	A	G	19: 6,035,969 (GRCm39)	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,213,265 (GRCm39)	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,079,951 (GRCm39)	T154I	possibly damaging	Het
Snai1	T	A	2: 167,380,229 (GRCm39)	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,052,655 (GRCm39)	M84K	probably benign	Het
Spop	G	T	11: 95,362,063 (GRCm39)	K31N	possibly damaging	Het
Surf1	T	C	2: 26,804,819 (GRCm39)	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,037,165 (GRCm39)	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,363,266 (GRCm39)	A67V	probably damaging	Het
Timd4	A	T	11: 46,706,353 (GRCm39)	M52L	probably damaging	Het
Trav16	A	T	14: 53,981,045 (GRCm39)	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,907 (GRCm39)	T147A	probably damaging	Het
Tulp1	A	T	17: 28,577,651 (GRCm39)		probably benign	Het
Ubqlnl	A	T	7: 103,797,915 (GRCm39)	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,148,559 (GRCm39)	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,665,910 (GRCm39)	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,313,926 (GRCm39)	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 41,909,616 (GRCm39)	H47L	probably benign	Het
Vwa5a	A	G	9: 38,633,968 (GRCm39)	E57G	probably damaging	Het
Zfp180	A	T	7: 23,804,510 (GRCm39)	R310*	probably null	Het
Zfp672	T	C	11: 58,208,349 (GRCm39)		probably benign	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
IGL00505:Abca15	APN	7	119,968,459 (GRCm39)	critical splice donor site	probably null
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
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

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