Mutagenetix > Incidental Mutation

Incidental Mutation 'R8098:Abca15'

630313

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 #

R8098 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120361396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 694 (S694G)

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: S694G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: S694G

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: S694G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: S694G

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,667,331	I185L	probably benign	Het
3425401B19Rik	A	G	14: 32,662,661	L449P	probably damaging	Het
4931440F15Rik	A	G	11: 29,824,450	S336P	possibly damaging	Het
Abcc6	A	G	7: 45,996,665	L800P	probably damaging	Het
Adam15	T	A	3: 89,343,886	D504V	probably damaging	Het
Adnp	T	C	2: 168,182,532	T948A	probably benign	Het
Akap11	T	C	14: 78,512,922	D675G		Het
Atp13a3	A	C	16: 30,354,297	V254G	possibly damaging	Het
Atp1a1	A	G	3: 101,582,049	I749T	probably damaging	Het
B3glct	T	A	5: 149,750,500	Y369*	probably null	Het
Bms1	C	T	6: 118,384,258	R1204H	probably damaging	Het
Btla	T	A	16: 45,244,249	L188*	probably null	Het
Btn2a2	A	G	13: 23,481,888	V258A	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1g	T	C	11: 94,416,512	H1782R	probably benign	Het
Calcoco1	T	C	15: 102,716,324	D172G	probably benign	Het
Ciart	G	A	3: 95,881,344	P61L	probably damaging	Het
Ckap4	A	G	10: 84,533,635	S78P	probably damaging	Het
Col6a3	A	T	1: 90,803,661	D1623E	probably benign	Het
Col7a1	A	G	9: 108,956,695	T411A	unknown	Het
Cpt1a	A	C	19: 3,370,849	I436L	probably benign	Het
Cyp2c23	T	A	19: 44,015,803	I173F	probably benign	Het
Dcun1d2	T	C	8: 13,261,396	T198A	probably benign	Het
Ddx50	A	C	10: 62,625,143		probably null	Het
Depdc1b	A	G	13: 108,324,059	T68A	probably damaging	Het
Dgkq	G	A	5: 108,652,468	R546W	probably damaging	Het
Dmbt1	G	A	7: 131,108,459	W1493*	probably null	Het
Dnah17	A	G	11: 118,050,367	S3219P	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Egf	T	A	3: 129,690,837	Y986F	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Ep400	A	T	5: 110,693,251	M1805K	unknown	Het
Exoc3	A	G	13: 74,172,152	M730T	probably benign	Het
Fbxl13	T	A	5: 21,620,718	M129L	probably benign	Het
Gins4	T	A	8: 23,237,021	M19L	probably benign	Het
Gm3238	T	C	10: 77,770,640	N229S	unknown	Het
Gpd2	T	A	2: 57,290,008	V89D	possibly damaging	Het
Hectd4	G	A	5: 121,321,398	V777I	possibly damaging	Het
Hgf	T	A	5: 16,561,061	V65E	probably benign	Het
Hnrnpdl	A	G	5: 100,037,920	S169P	probably benign	Het
Igfbp3	T	C	11: 7,210,104	D183G	possibly damaging	Het
Il16	A	G	7: 83,646,559	V1134A	probably damaging	Het
Kcnn4	A	G	7: 24,384,079	D395G	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Kif13a	T	C	13: 46,815,304	N354S	probably damaging	Het
Lrp1	C	T	10: 127,574,455	R1474Q	possibly damaging	Het
Map3k9	T	C	12: 81,734,114	Q424R	probably damaging	Het
Mkx	A	C	18: 6,992,784	S167A	possibly damaging	Het
Ms4a14	A	G	19: 11,304,615	F193S	possibly damaging	Het
Myo18a	A	T	11: 77,845,401	D1508V	probably damaging	Het
Nek4	T	A	14: 30,963,951	N273K	probably benign	Het
Nipal3	A	T	4: 135,452,398	V403D	possibly damaging	Het
Nlrp6	G	A	7: 140,923,255	V425M	probably damaging	Het
Olfr1228	T	A	2: 89,249,308	M117L	possibly damaging	Het
Olfr127	A	G	17: 37,904,359	D271G	probably damaging	Het
Olfr1342	A	T	4: 118,690,209	V81E	possibly damaging	Het
Olfr825	T	C	10: 130,163,047	K93R	probably benign	Het
Otub1	A	T	19: 7,204,429	D27E	probably damaging	Het
Pcnx2	T	C	8: 125,768,301	D1607G	probably damaging	Het
Pde2a	A	G	7: 101,421,971	Y16C	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prph2	A	T	17: 46,919,966	M262L	probably benign	Het
Pxdn	C	T	12: 30,006,602	L1271F	probably damaging	Het
Rnf10	A	C	5: 115,251,379	I243S	probably damaging	Het
Samd9l	T	C	6: 3,375,549	I571V	probably damaging	Het
Scube1	C	T	15: 83,659,088	G183D	probably damaging	Het
Sidt2	A	G	9: 45,945,730	V426A	probably benign	Het
Slc20a1	T	C	2: 129,209,121	L566P	probably damaging	Het
Slc22a3	A	G	17: 12,423,732		probably null	Het
Snx11	G	T	11: 96,770,674	S168R	probably benign	Het
Snx5	T	C	2: 144,255,562	N218D	probably benign	Het
Snx7	A	T	3: 117,838,934	D169E	probably benign	Het
Soat1	A	G	1: 156,446,610	L77P	probably damaging	Het
Sucnr1	T	A	3: 60,086,741	V230E	probably damaging	Het
Supv3l1	T	C	10: 62,429,503	K753E	probably benign	Het
Tango6	T	G	8: 106,742,358	L829V	possibly damaging	Het
Tek	T	C	4: 94,827,670	V443A	probably benign	Het
Tet1	A	T	10: 62,879,080	L312Q	probably damaging	Het
Tgm1	A	T	14: 55,710,534	N269K	probably damaging	Het
Thrb	A	T	14: 18,008,645	D168V	probably damaging	Het
Tk2	C	T	8: 104,231,172	V181I	probably benign	Het
Tm6sf2	T	C	8: 70,074,322	L47P	probably damaging	Het
Tmcc3	T	A	10: 94,579,216	M291K	probably benign	Het
Tnfrsf21	A	G	17: 43,039,899	E318G	probably benign	Het
Ttc7	T	C	17: 87,334,328	V451A	probably benign	Het
Ugt2b36	A	T	5: 87,092,393	D44E	probably benign	Het
Usp17la	G	T	7: 104,860,931	V248L	probably damaging	Het
Utp20	A	C	10: 88,752,948	I2453S	probably benign	Het
Wdr91	A	T	6: 34,886,882	I566N	possibly damaging	Het
Zfp282	A	G	6: 47,890,718	D276G	probably benign	Het
Zfp866	T	C	8: 69,765,978	K331E	probably benign	Het
Zkscan17	A	T	11: 59,503,584	W64R	possibly damaging	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
R7336:Abca15	UTSW	7	120388233	missense	possibly damaging	0.66
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
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'- GGCTTTAGTACAAAAGTCCTAGTC -3'
(R):5'- AGGGAACAGCATCCTAAGAATAATC -3'

Sequencing Primer
(F):5'- AGAGCAAGCCTAGTACTG -3'
(R):5'- CAGCATCCTAAGAATAATCAAAGGTG -3'

Posted On

2020-06-30