Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Abca15'

569496

Institutional Source

Beutler Lab

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 15

Synonyms

4930500I12Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_177213.3; MGI:2388709

Essential gene?

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

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120388233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 1247 (Q1247H)

Ref Sequence

ENSEMBL: ENSMUSP00000075621 (fasta)

Gene Model

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

AlphaFold

E9PWH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076272
AA Change: Q1247H

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: Q1247H

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

possibly damaging
Transcript: ENSMUST00000121265
AA Change: Q1247H

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: Q1247H

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: 98.9%

Validation Efficiency

99% (80/81)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	G	C	11: 94,571,650	Q180E	probably benign	Het
Adamts8	A	G	9: 30,962,067	D856G	probably benign	Het
Agrn	A	T	4: 156,174,914	C828*	probably null	Het
Ankub1	T	C	3: 57,665,687	T205A	probably benign	Het
Atm	A	T	9: 53,462,503	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,909,843	F257L	probably benign	Het
Bcat2	T	A	7: 45,575,485	C27S	probably benign	Het
Bod1l	G	A	5: 41,821,524	R816C	probably damaging	Het
Btg3	A	G	16: 78,364,807	Y172H	probably benign	Het
C130079G13Rik	G	A	3: 59,932,753		probably null	Het
Cacna1d	T	C	14: 30,045,282	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,706,601	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,303,112	V646A	probably benign	Het
Ccp110	C	T	7: 118,722,210	P363S	probably damaging	Het
Cct4	C	A	11: 23,001,564	T377K	possibly damaging	Het
Cep350	T	A	1: 155,862,276	H2607L	probably benign	Het
Cfap46	A	G	7: 139,620,104	F1954L	unknown	Het
Chat	C	T	14: 32,423,256		probably null	Het
Clasp2	A	G	9: 113,876,353		probably null	Het
Cldn9	T	C	17: 23,683,015	D212G	probably benign	Het
Cp	G	A	3: 19,964,532		probably null	Het
Cyfip1	T	A	7: 55,926,400	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,797,734	D4060G	probably damaging	Het
Dpyd	A	G	3: 119,064,921	T595A	probably damaging	Het
Eps8	G	A	6: 137,509,213	R434C	possibly damaging	Het
Fasl	A	G	1: 161,787,988	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,849,727	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,473,214	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,914,357	N102S	probably damaging	Het
Gm2381	T	C	7: 42,822,380	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,313	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,187,345	K269N	probably damaging	Het
Icosl	C	A	10: 78,073,873	Y217*	probably null	Het
Il17rd	G	T	14: 27,087,546	R153L	probably benign	Het
Kif17	C	A	4: 138,298,306	T973K	possibly damaging	Het
Klk1b16	A	G	7: 44,141,483	I236M	probably benign	Het
Lgmn	G	A	12: 102,423,739		probably benign	Het
Lmbr1l	T	C	15: 98,913,587	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,677,191	I196N	possibly damaging	Het
Maml1	C	T	11: 50,266,449	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,533,817	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,713,839	T69A	probably benign	Het
Mlph	G	A	1: 90,921,983		probably null	Het
Myh1	A	T	11: 67,220,609	M1625L	probably benign	Het
Myh3	G	T	11: 67,091,021	R781L	probably benign	Het
Nckap5	A	T	1: 126,026,049	I922K	probably benign	Het
Nlrp5	T	A	7: 23,417,634	M261K	probably damaging	Het
Olfr1317	A	T	2: 112,142,169	S75C	possibly damaging	Het
Olfr312	T	A	11: 58,831,924	Y257N	probably damaging	Het
Olfr396-ps1	G	A	11: 73,928,837	M204I	probably benign	Het
Olfr965	A	G	9: 39,719,610	N128D	probably benign	Het
Pak1	T	A	7: 97,888,972	V262E	probably benign	Het
Pigw	A	T	11: 84,877,104	D466E	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,333,116		probably benign	Het
Rfx1	A	G	8: 84,073,756		probably benign	Het
Rfx7	A	G	9: 72,593,357	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,200,719	D226E	probably benign	Het
Sgk3	G	A	1: 9,884,476	A271T	possibly damaging	Het
Sh2d5	T	A	4: 138,256,839	C173S	probably benign	Het
Skint8	T	C	4: 111,939,572	V291A	probably benign	Het
Slc22a27	T	A	19: 7,926,689	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,116,435	V449I	probably benign	Het
Slc39a9	T	C	12: 80,679,542	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,036,128	H495Y	probably damaging	Het
Stab2	G	A	10: 86,969,185	Q310*	probably null	Het
Supt16	C	A	14: 52,171,491	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,236,177	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,548,859	T565M	unknown	Het
Tll1	G	A	8: 64,025,142	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,969,631	T232I	possibly damaging	Het
Tmem2	C	A	19: 21,826,145	Y847*	probably null	Het
Trim65	T	G	11: 116,128,290	D141A	probably benign	Het
Trim80	T	C	11: 115,441,216	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,873,217	I83N	probably benign	Het
Vnn3	G	A	10: 23,851,908	G72D	probably benign	Het
Wasl	G	T	6: 24,619,687	P278Q	unknown	Het
Wdr62	A	T	7: 30,243,917	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,723,833	T663I	unknown	Het

Other mutations in Abca15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca15	APN	7	120397054	missense	probably damaging	1.00
IGL00505:Abca15	APN	7	120369236	critical splice donor site	probably null
IGL00851:Abca15	APN	7	120340007	missense	probably damaging	1.00
IGL00985:Abca15	APN	7	120397018	missense	probably damaging	1.00
IGL01114:Abca15	APN	7	120361420	missense	probably damaging	0.99
IGL01287:Abca15	APN	7	120332858	utr 3 prime	probably benign
IGL01333:Abca15	APN	7	120382308	missense	probably damaging	1.00
IGL01482:Abca15	APN	7	120382746	missense	probably benign	0.00
IGL01610:Abca15	APN	7	120340644	missense	probably damaging	0.98
IGL02238:Abca15	APN	7	120396606	missense	probably benign	0.02
IGL02377:Abca15	APN	7	120365910	splice site	probably benign
IGL02666:Abca15	APN	7	120335208	missense	probably damaging	1.00
IGL02836:Abca15	APN	7	120388216	missense	probably benign
IGL03337:Abca15	APN	7	120396707	missense	probably benign	0.24
IGL03354:Abca15	APN	7	120394488	nonsense	probably null
H8562:Abca15	UTSW	7	120374854	splice site	probably benign
IGL03098:Abca15	UTSW	7	120388276	splice site	probably null
R0029:Abca15	UTSW	7	120346002	missense	probably benign	0.01
R0029:Abca15	UTSW	7	120346002	missense	probably benign	0.01
R0076:Abca15	UTSW	7	120373685	splice site	probably benign
R0165:Abca15	UTSW	7	120350903	splice site	probably benign
R0311:Abca15	UTSW	7	120402904	missense	probably damaging	0.98
R0387:Abca15	UTSW	7	120332852	critical splice donor site	probably null
R0610:Abca15	UTSW	7	120365786	missense	possibly damaging	0.75
R0612:Abca15	UTSW	7	120337255	missense	probably damaging	1.00
R0704:Abca15	UTSW	7	120354523	missense	probably damaging	0.98
R0890:Abca15	UTSW	7	120373713	missense	probably benign	0.01
R0961:Abca15	UTSW	7	120360985	nonsense	probably null
R1144:Abca15	UTSW	7	120360860	splice site	probably benign
R1412:Abca15	UTSW	7	120345323	missense	possibly damaging	0.93
R1419:Abca15	UTSW	7	120374902	missense	probably benign	0.10
R1467:Abca15	UTSW	7	120340538	splice site	probably null
R1467:Abca15	UTSW	7	120340538	splice site	probably null
R1469:Abca15	UTSW	7	120382497	missense	probably benign	0.00
R1469:Abca15	UTSW	7	120382497	missense	probably benign	0.00
R1493:Abca15	UTSW	7	120382290	missense	probably benign	0.00
R1513:Abca15	UTSW	7	120340099	missense	probably damaging	0.96
R1702:Abca15	UTSW	7	120382702	missense	probably benign	0.10
R1857:Abca15	UTSW	7	120361369	missense	probably damaging	1.00
R1893:Abca15	UTSW	7	120340553	missense	possibly damaging	0.85
R1901:Abca15	UTSW	7	120346099	missense	probably damaging	1.00
R1951:Abca15	UTSW	7	120361432	missense	probably damaging	1.00
R1953:Abca15	UTSW	7	120361432	missense	probably damaging	1.00
R1962:Abca15	UTSW	7	120341245	missense	probably damaging	1.00
R2063:Abca15	UTSW	7	120360904	missense	possibly damaging	0.61
R2141:Abca15	UTSW	7	120407474	missense	probably damaging	1.00
R2145:Abca15	UTSW	7	120354478	missense	probably benign	0.08
R2182:Abca15	UTSW	7	120340227	nonsense	probably null
R2425:Abca15	UTSW	7	120359810	missense	probably damaging	1.00
R2444:Abca15	UTSW	7	120365897	missense	probably damaging	1.00
R3023:Abca15	UTSW	7	120382779	missense	probably benign	0.40
R3079:Abca15	UTSW	7	120385169	missense	probably damaging	1.00
R3106:Abca15	UTSW	7	120396633	missense	possibly damaging	0.63
R3622:Abca15	UTSW	7	120350813	nonsense	probably null
R4085:Abca15	UTSW	7	120382726	missense	probably damaging	1.00
R4233:Abca15	UTSW	7	120402979	nonsense	probably null
R4591:Abca15	UTSW	7	120382413	missense	probably damaging	1.00
R4612:Abca15	UTSW	7	120335161	missense	probably benign	0.03
R4721:Abca15	UTSW	7	120350775	missense	probably benign	0.01
R4838:Abca15	UTSW	7	120345300	missense	probably benign	0.00
R4940:Abca15	UTSW	7	120332694	missense	probably benign
R4963:Abca15	UTSW	7	120360919	missense	probably damaging	1.00
R4993:Abca15	UTSW	7	120401718	missense	probably damaging	0.99
R5022:Abca15	UTSW	7	120346096	missense	probably damaging	0.98
R5030:Abca15	UTSW	7	120340001	missense	probably damaging	1.00
R5072:Abca15	UTSW	7	120406975	missense	probably damaging	1.00
R5090:Abca15	UTSW	7	120385199	missense	probably damaging	1.00
R5309:Abca15	UTSW	7	120345369	missense	probably damaging	0.96
R5310:Abca15	UTSW	7	120332616	missense	possibly damaging	0.46
R5312:Abca15	UTSW	7	120345369	missense	probably damaging	0.96
R5482:Abca15	UTSW	7	120369147	missense	probably damaging	1.00
R5596:Abca15	UTSW	7	120401749	missense	possibly damaging	0.94
R5853:Abca15	UTSW	7	120340583	missense	probably benign	0.00
R5950:Abca15	UTSW	7	120382656	missense	probably damaging	1.00
R5953:Abca15	UTSW	7	120361018	missense	probably damaging	1.00
R6072:Abca15	UTSW	7	120388258	missense	probably damaging	0.98
R6131:Abca15	UTSW	7	120340205	missense	probably benign	0.03
R6132:Abca15	UTSW	7	120361420	missense	probably benign	0.14
R6136:Abca15	UTSW	7	120340049	missense	possibly damaging	0.81
R6207:Abca15	UTSW	7	120373794	missense	probably benign	0.01
R6315:Abca15	UTSW	7	120346092	missense	probably damaging	1.00
R6417:Abca15	UTSW	7	120397128	missense	possibly damaging	0.95
R6420:Abca15	UTSW	7	120397128	missense	possibly damaging	0.95
R6595:Abca15	UTSW	7	120394487	missense	probably benign	0.00
R6653:Abca15	UTSW	7	120346006	missense	probably benign	0.03
R6859:Abca15	UTSW	7	120402994	nonsense	probably null
R6983:Abca15	UTSW	7	120354463	missense	probably benign	0.26
R7127:Abca15	UTSW	7	120332602	missense	probably benign	0.06
R7205:Abca15	UTSW	7	120394364	missense	possibly damaging	0.89
R7426:Abca15	UTSW	7	120345998	missense	possibly damaging	0.88
R7745:Abca15	UTSW	7	120332217	missense	probably damaging	1.00
R7751:Abca15	UTSW	7	120365821	missense	possibly damaging	0.72
R7806:Abca15	UTSW	7	120332836	missense	probably damaging	0.96
R8042:Abca15	UTSW	7	120403010	missense	possibly damaging	0.95
R8098:Abca15	UTSW	7	120361396	missense	probably benign	0.09
R8153:Abca15	UTSW	7	120400589	missense	probably damaging	1.00
R8247:Abca15	UTSW	7	120337222	missense	possibly damaging	0.83
R8259:Abca15	UTSW	7	120340199	missense	probably benign	0.00
R8272:Abca15	UTSW	7	120407442	missense	probably damaging	1.00
R8295:Abca15	UTSW	7	120374965	missense	probably benign	0.00
R8757:Abca15	UTSW	7	120407408	missense	probably damaging	0.96
R8759:Abca15	UTSW	7	120407408	missense	probably damaging	0.96
R8905:Abca15	UTSW	7	120361548	missense	probably benign	0.28
R9145:Abca15	UTSW	7	120388165	missense	probably benign	0.13
R9217:Abca15	UTSW	7	120388216	missense	probably benign
R9264:Abca15	UTSW	7	120401833	missense	probably benign	0.14
R9517:Abca15	UTSW	7	120388201	missense	probably benign	0.07
RF018:Abca15	UTSW	7	120394460	missense	possibly damaging	0.50
Z1176:Abca15	UTSW	7	120346026	missense	probably benign	0.22
Z1176:Abca15	UTSW	7	120382505	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATTCCCTGGCCTCGGTTTG -3'
(R):5'- TAGTGTTCCAAGCAGTTACATGC -3'

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

Posted On

2019-09-13