Mutagenetix > Incidental Mutation

Incidental Mutation 'R6653:Abca15'

526510

Institutional Source

Beutler Lab

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A member 15

Synonyms

4930500I12Rik

MMRRC Submission

044774-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119927893-120006910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 119945229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 435 (L435R)

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: L435R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: L435R

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: L435R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: L435R

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

noncoding transcript
Transcript: ENSMUST00000140459

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Ankrd50	T	A	3: 38,511,510 (GRCm39)	I286F	probably damaging	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
B4galnt2	T	A	11: 95,782,747 (GRCm39)	M22L	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh4	C	T	2: 179,422,221 (GRCm39)	A115V	probably benign	Het
Cfap53	A	G	18: 74,433,280 (GRCm39)	T122A	probably damaging	Het
Chsy1	A	G	7: 65,759,941 (GRCm39)	K95E	probably benign	Het
Csde1	C	A	3: 102,960,184 (GRCm39)	P604T	probably damaging	Het
Cts7	A	T	13: 61,502,817 (GRCm39)	L237Q	probably damaging	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eif2b4	C	T	5: 31,349,551 (GRCm39)	E53K	possibly damaging	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fcamr	A	G	1: 130,740,939 (GRCm39)	T453A	possibly damaging	Het
Glb1l3	T	C	9: 26,770,884 (GRCm39)	T61A	probably benign	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hephl1	C	T	9: 14,993,260 (GRCm39)	V525I	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kbtbd4	T	A	2: 90,740,113 (GRCm39)	Y499*	probably null	Het
Kif1a	A	T	1: 93,005,420 (GRCm39)	I118N	probably damaging	Het
Klhdc7b	A	G	15: 89,271,292 (GRCm39)	S725G	probably benign	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Myo7a	T	A	7: 97,703,710 (GRCm39)	Y1977F	probably damaging	Het
Naip2	T	G	13: 100,298,352 (GRCm39)	K561N	probably benign	Het
Naip2	C	T	13: 100,288,644 (GRCm39)	V1194I	probably benign	Het
Nkx2-4	G	T	2: 146,925,860 (GRCm39)	A334E	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Pcdha7	A	G	18: 37,107,539 (GRCm39)	Q188R	probably benign	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phip	C	A	9: 82,782,794 (GRCm39)	E884*	probably null	Het
Plxnc1	C	A	10: 94,779,738 (GRCm39)	V235L	probably damaging	Het
Qser1	A	G	2: 104,610,605 (GRCm39)	V1226A	possibly damaging	Het
Ros1	G	T	10: 52,018,299 (GRCm39)	S786R	probably damaging	Het
Rps6ka5	A	G	12: 100,517,795 (GRCm39)	S769P	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Specc1	T	G	11: 62,037,244 (GRCm39)	S813A	probably damaging	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Tmem44	T	C	16: 30,356,369 (GRCm39)	D110G	probably damaging	Het
Ubn2	A	G	6: 38,411,397 (GRCm39)	E97G	possibly damaging	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Usp25	T	A	16: 76,856,176 (GRCm39)	N256K	probably benign	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Wnt2b	C	A	3: 104,860,502 (GRCm39)	R135L	probably damaging	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	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
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'- CAGCTATCCCCTTGGAATCC -3'
(R):5'- AGAATGGTTCTCTTGTCTGCTTCAC -3'

Sequencing Primer
(F):5'- TCCCCTTGGAATCCTAAAATCTAAGG -3'
(R):5'- GTCTGCTTCACTACCTCAGTAATAG -3'

Posted On

2018-07-23