Mutagenetix > Incidental Mutation

Incidental Mutation 'R7745:Abca15'

596795

Institutional Source

Beutler Lab

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A member 15

Synonyms

4930500I12Rik

MMRRC Submission

045801-MU

Accession Numbers

Essential gene?

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

Stock #

R7745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119927893-120006910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119931440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 16 (N16S)

Ref Sequence

ENSEMBL: ENSMUSP00000075621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076272] [ENSMUST00000121265] [ENSMUST00000207220]

AlphaFold

E9PWH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000076272
AA Change: N16S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: N16S

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 damaging
Transcript: ENSMUST00000121265
AA Change: N16S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: N16S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207220
AA Change: N16S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (55/57)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,893 (GRCm39)	S188R	probably damaging	Het
Aars1	T	A	8: 111,768,289 (GRCm39)	I220N	probably damaging	Het
Adck1	A	T	12: 88,423,570 (GRCm39)	M358L	probably benign	Het
Adck5	A	T	15: 76,478,748 (GRCm39)	Q345L	probably benign	Het
Adgrl2	A	G	3: 148,542,094 (GRCm39)	F876S	probably damaging	Het
Aebp2	T	A	6: 140,569,584 (GRCm39)	L55Q	unknown	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Aox3	T	C	1: 58,215,676 (GRCm39)	V1036A	possibly damaging	Het
Aox4	A	G	1: 58,279,866 (GRCm39)	D494G	probably benign	Het
Cacna1a	C	A	8: 85,286,023 (GRCm39)	H889Q	probably benign	Het
Cacna1c	T	C	6: 119,029,587 (GRCm39)	D151G		Het
Car8	A	G	4: 8,237,939 (GRCm39)	V92A	possibly damaging	Het
Ccdc8	G	T	7: 16,729,614 (GRCm39)	A368S	unknown	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cntnap5a	A	G	1: 116,370,013 (GRCm39)	I877V	probably benign	Het
Copa	A	T	1: 171,939,509 (GRCm39)	D582V	probably damaging	Het
Cpne2	T	G	8: 95,295,312 (GRCm39)	S466A	probably damaging	Het
Crybg2	A	G	4: 133,816,156 (GRCm39)	K1311R	possibly damaging	Het
Csmd1	A	G	8: 15,982,461 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,342,144 (GRCm39)	C2947*	probably null	Het
Exoc1	A	T	5: 76,709,359 (GRCm39)	K656*	probably null	Het
Exoc8	T	C	8: 125,622,558 (GRCm39)	N603S	probably benign	Het
Fam171a1	T	A	2: 3,226,483 (GRCm39)	C539S	possibly damaging	Het
Fastkd5	A	T	2: 130,456,988 (GRCm39)	I534K	probably damaging	Het
Fbn1	T	C	2: 125,145,115 (GRCm39)	D2708G	probably benign	Het
Fhad1	A	G	4: 141,618,250 (GRCm39)	L1392P	probably benign	Het
Fras1	A	T	5: 96,874,754 (GRCm39)	T2306S	probably benign	Het
Gdf7	G	T	12: 8,351,854 (GRCm39)	A27E	unknown	Het
Hnrnph1	A	T	11: 50,270,324 (GRCm39)	I43F	probably damaging	Het
Igkv8-27	T	A	6: 70,148,999 (GRCm39)	S52C	probably benign	Het
Jmjd1c	T	C	10: 67,052,824 (GRCm39)	F24L	probably damaging	Het
Knl1	T	G	2: 118,902,037 (GRCm39)	L1246R	probably benign	Het
Limk2	C	T	11: 3,305,896 (GRCm39)	S191N	probably damaging	Het
Mdga2	C	A	12: 66,736,125 (GRCm39)	A368S	possibly damaging	Het
Mdga2	G	A	12: 66,736,124 (GRCm39)	A368V	probably damaging	Het
Med24	A	T	11: 98,595,793 (GRCm39)	L966Q	probably damaging	Het
Mgll	T	C	6: 88,702,770 (GRCm39)	V23A	possibly damaging	Het
Nedd1	C	T	10: 92,550,034 (GRCm39)	D84N	probably benign	Het
Obscn	A	C	11: 58,951,681 (GRCm39)	L4024R	probably damaging	Het
Or5k1b	A	T	16: 58,580,782 (GRCm39)	Y252*	probably null	Het
Pcnx2	T	C	8: 126,577,846 (GRCm39)	I944V	probably benign	Het
Pecr	T	C	1: 72,306,157 (GRCm39)		probably null	Het
Phf3	A	T	1: 30,843,305 (GRCm39)	W1885R	probably damaging	Het
Pitpnm2	C	G	5: 124,266,768 (GRCm39)	A697P	probably benign	Het
Piwil2	T	A	14: 70,631,638 (GRCm39)	H602L	probably benign	Het
Pprc1	T	C	19: 46,053,781 (GRCm39)	S1104P	unknown	Het
Prkar1a	T	A	11: 109,544,673 (GRCm39)	Y21*	probably null	Het
Prl2c3	A	T	13: 12,813,186 (GRCm39)	Y9*	probably null	Het
Rhbdl3	T	A	11: 80,214,405 (GRCm39)	L172Q	possibly damaging	Het
Rsph3a	T	G	17: 8,198,075 (GRCm39)	L484W	probably damaging	Het
Sbno1	A	T	5: 124,530,962 (GRCm39)	S809T	probably benign	Het
Stmnd1	T	A	13: 46,453,077 (GRCm39)	V251E	possibly damaging	Het
Stt3a	A	T	9: 36,662,535 (GRCm39)	C241*	probably null	Het
Tas2r114	A	T	6: 131,666,401 (GRCm39)	M209K	probably damaging	Het
Tchh	G	T	3: 93,352,084 (GRCm39)	R508L	unknown	Het
Tgfbr3l	T	C	8: 4,300,622 (GRCm39)	S267P	possibly damaging	Het
Ttn	T	A	2: 76,598,144 (GRCm39)	I19590F	probably damaging	Het
Vmn1r171	A	G	7: 23,332,035 (GRCm39)	T87A	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
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
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'- TTCCAAATTTCCTGACCTCTAATGAG -3'
(R):5'- AGAAGAAGTCAAAGGCTGTCTTATTTC -3'

Sequencing Primer
(F):5'- CTGACCTCTAATGAGTATTCCAAATG -3'
(R):5'- ATGTGACATTCTACTATTACCTCACG -3'

Posted On

2019-11-26