Mutagenetix > Incidental Mutation

Incidental Mutation 'R9217:Abca15'

699254

Institutional Source

Beutler Lab

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A member 15

Synonyms

4930500I12Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119927893-120006910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119987439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1242 (M1242L)

Ref Sequence

ENSEMBL: ENSMUSP00000075621 (fasta)

Gene Model

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

AlphaFold

E9PWH4

Predicted Effect

probably benign
Transcript: ENSMUST00000076272
AA Change: M1242L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: M1242L

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: M1242L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: M1242L

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (59/61)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,808,967 (GRCm39)	V98A	unknown	Het
Abcb9	G	A	5: 124,214,090 (GRCm39)	R576C	possibly damaging	Het
Abl2	A	G	1: 156,452,902 (GRCm39)	S146G	probably damaging	Het
Aga	G	A	8: 53,966,627 (GRCm39)	G60S	probably damaging	Het
Amigo1	T	A	3: 108,095,944 (GRCm39)	V481D	probably damaging	Het
Ano5	C	A	7: 51,243,415 (GRCm39)	P846Q	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cd177	A	T	7: 24,445,550 (GRCm39)	I631K	possibly damaging	Het
Chil6	T	A	3: 106,313,411 (GRCm39)		probably benign	Het
Clip1	A	G	5: 123,717,441 (GRCm39)	S1283P	probably damaging	Het
Cpt1a	G	A	19: 3,425,111 (GRCm39)	V493I	probably benign	Het
Dcbld1	T	A	10: 52,138,028 (GRCm39)	D97E	probably benign	Het
Decr1	G	A	4: 15,930,969 (GRCm39)	P121L	probably damaging	Het
Ehmt1	A	T	2: 24,729,578 (GRCm39)	L661Q	probably benign	Het
Eif2d	A	G	1: 131,085,972 (GRCm39)	M156V	possibly damaging	Het
Ermn	A	T	2: 57,938,010 (GRCm39)	I201K	probably damaging	Het
Etfbkmt	T	C	6: 149,045,663 (GRCm39)	C6R	probably benign	Het
Evx2	A	T	2: 74,488,109 (GRCm39)		probably null	Het
Fam222a	T	C	5: 114,748,905 (GRCm39)	S34P	probably benign	Het
Fmo6	A	T	1: 162,748,046 (GRCm39)	D339E	probably benign	Het
Fubp1	T	C	3: 151,923,873 (GRCm39)	S142P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,625,033 (GRCm39)	Q75L	probably damaging	Het
Gucy2e	C	T	11: 69,126,778 (GRCm39)	A232T	possibly damaging	Het
Haspin	A	T	11: 73,026,936 (GRCm39)	C718S	probably benign	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Jph1	T	A	1: 17,167,632 (GRCm39)	Q66L	probably benign	Het
Kank1	G	T	19: 25,386,944 (GRCm39)	D206Y	possibly damaging	Het
Klf14	T	C	6: 30,935,470 (GRCm39)	T55A	probably benign	Het
Lclat1	T	C	17: 73,494,879 (GRCm39)	M125T	probably damaging	Het
Lgr5	T	A	10: 115,423,349 (GRCm39)	Q17L	probably benign	Het
Lrmda	A	G	14: 22,648,361 (GRCm39)	I64V	unknown	Het
Lrrc15	A	G	16: 30,092,415 (GRCm39)	L308P	probably damaging	Het
Lyst	C	A	13: 13,871,245 (GRCm39)	Q2661K	probably benign	Het
Map3k21	T	A	8: 126,638,027 (GRCm39)	D204E	possibly damaging	Het
Msln	T	C	17: 25,970,125 (GRCm39)	I277V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nup153	G	A	13: 46,835,138 (GRCm39)	T1389M	probably damaging	Het
Or8c10	A	G	9: 38,279,268 (GRCm39)	Y132C	probably damaging	Het
Plcd1	T	C	9: 118,901,723 (GRCm39)		probably null	Het
Plce1	C	T	19: 38,748,551 (GRCm39)	R1761C	probably damaging	Het
Prrc2b	T	C	2: 32,103,414 (GRCm39)	L964P	probably damaging	Het
Prss43	T	C	9: 110,656,564 (GRCm39)	S84P	possibly damaging	Het
Rffl	T	C	11: 82,703,633 (GRCm39)	T97A	possibly damaging	Het
Riok2	G	C	17: 17,598,057 (GRCm39)	G48A	possibly damaging	Het
Sec24a	A	G	11: 51,617,331 (GRCm39)	M488T	probably benign	Het
Setdb2	C	T	14: 59,646,881 (GRCm39)	D545N	possibly damaging	Het
Slc39a4	T	A	15: 76,498,126 (GRCm39)	H400L	possibly damaging	Het
St7	T	A	6: 17,846,271 (GRCm39)	F175I	probably damaging	Het
Syne1	T	A	10: 5,299,324 (GRCm39)	D977V	probably damaging	Het
Tenm4	C	T	7: 96,534,646 (GRCm39)	T1801I	probably damaging	Het
Terf1	C	T	1: 15,883,295 (GRCm39)	T136I	probably damaging	Het
Tnnt1	T	C	7: 4,513,381 (GRCm39)	S42G	probably benign	Het
Trappc8	A	G	18: 21,000,822 (GRCm39)	V287A	probably benign	Het
Ttc3	T	A	16: 94,230,467 (GRCm39)	I870K	possibly damaging	Het
Ttn	A	T	2: 76,574,389 (GRCm39)	N25501K	possibly damaging	Het
Unc13c	A	T	9: 73,485,715 (GRCm39)	W1662R	probably damaging	Het
Wdr47	T	A	3: 108,525,890 (GRCm39)	C138S	probably damaging	Het
Zfp458	A	G	13: 67,408,298 (GRCm39)	S6P	probably damaging	Het
Zfp668	A	C	7: 127,465,804 (GRCm39)	L460*	probably null	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
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
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'- AATTCCCTGGCCTCGGTTTG -3'
(R):5'- GTGTTCCAAGCAGTTACATGCTTG -3'

Sequencing Primer
(F):5'- CCTCGGTTTGATCATTACTAAGGGAC -3'
(R):5'- CCAAGCAGTTACATGCTTGTTTTG -3'

Posted On

2022-02-07