Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Abca15'

263062

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

040580-MU

Accession Numbers

NCBI RefSeq: NM_177213.3; MGI:2388709

Essential gene?

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

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120396633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1331 (E1331V)

Ref Sequence

ENSEMBL: ENSMUSP00000112821 (fasta)

Gene Model

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

AlphaFold

E9PWH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076272
AA Change: E1331V

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: E1331V

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: E1331V

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: E1331V

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	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
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
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'- CTGCTGTGGTGAACTACTCATTAC -3'
(R):5'- GCTCCTGAAGAACCACAGTG -3'

Sequencing Primer
(F):5'- CATCAAGTCCCTTGGAAATTGTTC -3'
(R):5'- GAACTGGGCAATTCAGAAAC -3'

Posted On

2015-02-05