Mutagenetix > Incidental Mutation

Incidental Mutation 'R6063:Abca17'

483945

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 17

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24264344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1713 (R1713C)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039324] [ENSMUST00000121226]

AlphaFold

E9PX95

Predicted Effect

unknown
Transcript: ENSMUST00000039324
AA Change: R1713C

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: R1713C

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:ABC2_membrane_3	252	464	9.5e-17	PFAM
AAA	547	729	5.71e-12	SMART
low complexity region	846	857	N/A	INTRINSIC
Pfam:ABC2_membrane_3	905	1307	6.7e-35	PFAM
low complexity region	1337	1351	N/A	INTRINSIC
AAA	1393	1577	1.15e-1	SMART
low complexity region	1697	1730	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121226
AA Change: R1713C

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: R1713C

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:ABC2_membrane_3	21	464	1.2e-15	PFAM
AAA	547	729	5.71e-12	SMART
low complexity region	846	857	N/A	INTRINSIC
Pfam:ABC2_membrane_3	905	1307	1.1e-32	PFAM
low complexity region	1337	1351	N/A	INTRINSIC
AAA	1393	1577	1.15e-1	SMART
low complexity region	1697	1730	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano6	C	T	15: 95,948,417	T512I	probably damaging	Het
Ap3s1	T	C	18: 46,754,438	V46A	probably benign	Het
Art2a-ps	C	A	7: 101,555,206	V42F	probably damaging	Het
Asph	C	T	4: 9,531,960	V386M	probably benign	Het
B4galnt4	T	A	7: 141,064,730	D179E	probably benign	Het
Bbx	T	C	16: 50,251,367	I232V	probably benign	Het
C1ql2	A	G	1: 120,341,592	I159V	probably benign	Het
Ccar1	A	G	10: 62,776,717	V223A	possibly damaging	Het
Cd2ap	A	T	17: 42,825,911	L277I	probably benign	Het
Cfap44	G	A	16: 44,429,892	E778K	probably benign	Het
Chd3	A	T	11: 69,349,237	D1626E	probably benign	Het
Crocc	C	T	4: 141,041,721	G505S	probably benign	Het
Crocc	T	A	4: 141,046,540	Q72L	probably damaging	Het
Drosha	T	C	15: 12,834,070		probably benign	Het
Eps8l1	T	A	7: 4,471,297	S256T	possibly damaging	Het
F830045P16Rik	A	G	2: 129,474,390	V133A	probably damaging	Het
Fermt2	A	T	14: 45,459,881	M671K	possibly damaging	Het
Fhdc1	G	A	3: 84,446,029	L630F	probably benign	Het
Gm9125	A	G	3: 94,050,101	F7L	probably benign	Het
Gon4l	T	C	3: 88,899,999	S1667P	probably damaging	Het
Greb1l	A	C	18: 10,557,340	K1780T	probably damaging	Het
H2-Q10	C	T	17: 35,470,129	T8M	probably benign	Het
Hmcn2	A	T	2: 31,434,713	T4215S	probably benign	Het
I0C0044D17Rik	G	A	4: 98,820,339		probably benign	Het
Ifi204	A	G	1: 173,751,657	F541L	probably benign	Het
Igkv6-17	C	T	6: 70,371,780	A45V	probably damaging	Het
Intu	G	A	3: 40,654,094	A161T	probably damaging	Het
Kcnmb2	A	G	3: 32,178,992	Y73C	probably damaging	Het
Lrit1	T	C	14: 37,054,988	F22L	probably benign	Het
Lrp1b	A	T	2: 41,284,144	C699*	probably null	Het
Lrrc8d	A	G	5: 105,812,126	D134G	probably benign	Het
Map1b	T	C	13: 99,431,137	D1692G	unknown	Het
Met	C	T	6: 17,491,968	S243F	probably damaging	Het
Mlph	C	A	1: 90,928,160	H96Q	probably damaging	Het
Mycbp2	A	T	14: 103,135,146	V4088D	probably damaging	Het
Nampt	T	A	12: 32,848,659	S425T	probably damaging	Het
Nts	G	A	10: 102,484,995	H78Y	probably benign	Het
Nxf1	A	G	19: 8,767,787	E467G	possibly damaging	Het
Olfml2a	C	A	2: 38,951,143	D230E	probably benign	Het
Olfr142	C	A	2: 90,252,427	C187F	probably benign	Het
Olfr668	C	T	7: 104,925,392	R124H	probably benign	Het
Pcsk5	A	G	19: 17,454,681		probably null	Het
Pde5a	C	A	3: 122,824,925	T629K	probably benign	Het
Plcb3	G	T	19: 6,962,834	R462S	possibly damaging	Het
Pnpla6	T	A	8: 3,524,156	M469K	probably benign	Het
Pram1	A	T	17: 33,641,412	K318*	probably null	Het
Prkd1	T	C	12: 50,342,043	R906G	probably benign	Het
Ptprh	T	A	7: 4,573,362	T300S	possibly damaging	Het
Rdh16f2	A	G	10: 127,876,874	Y247C	probably benign	Het
Rimbp3	A	G	16: 17,210,917	E735G	probably damaging	Het
Sall3	G	A	18: 80,974,255	P153S	possibly damaging	Het
Samd4b	T	A	7: 28,423,631	M1L	possibly damaging	Het
Sept12	T	C	16: 4,992,263	E136G	probably damaging	Het
Shpk	A	T	11: 73,213,444	K140*	probably null	Het
Sidt1	G	T	16: 44,259,466	F608L	probably benign	Het
Skint5	A	G	4: 113,490,645	Y1300H	probably benign	Het
Slc22a28	G	A	19: 8,117,022	P212S	probably benign	Het
Slc22a5	A	T	11: 53,867,533	F480L	possibly damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc3a1	C	T	17: 85,028,523	P31L	probably benign	Het
Slc4a7	T	C	14: 14,793,964	V1074A	possibly damaging	Het
Snx2	C	T	18: 53,209,625	Q254*	probably null	Het
Sox30	G	A	11: 45,991,942	V600I	probably benign	Het
Svil	T	G	18: 5,106,724	V1855G	probably damaging	Het
Tdrd7	A	G	4: 46,005,486	T431A	probably benign	Het
Tenm2	A	T	11: 36,163,717		probably null	Het
Tigar	A	G	6: 127,091,201	S85P	probably benign	Het
Tnr	A	C	1: 159,912,684	M1143L	probably benign	Het
Trio	G	T	15: 27,891,379	Q429K	possibly damaging	Het
Urb1	T	C	16: 90,789,097	I452M	probably benign	Het
Uroc1	A	T	6: 90,347,928	E461V	probably benign	Het
Vax1	C	A	19: 59,168,604	R99L	unknown	Het
Xab2	A	T	8: 3,613,051	I510N	possibly damaging	Het
Zbtb34	A	T	2: 33,411,830	I233K	possibly damaging	Het
Zfp27	A	G	7: 29,894,302	F746S	probably damaging	Het
Zfp651	A	G	9: 121,763,532	E306G	probably benign	Het
Zfp719	C	T	7: 43,589,626	Q213*	probably null	Het
Zswim6	T	C	13: 107,728,577		noncoding transcript	Het

Other mutations in Abca17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca17	APN	17	24295191	missense	probably benign	0.14
IGL00585:Abca17	APN	17	24300320	missense	probably damaging	0.99
IGL00941:Abca17	APN	17	24317130	missense	probably damaging	1.00
IGL01987:Abca17	APN	17	24346228	missense	probably benign	0.00
IGL01988:Abca17	APN	17	24334255	missense	probably damaging	0.99
IGL02223:Abca17	APN	17	24287935	nonsense	probably null
IGL02368:Abca17	APN	17	24287793	missense	probably benign	0.01
IGL02405:Abca17	APN	17	24279062	missense	possibly damaging	0.80
IGL02431:Abca17	APN	17	24298984	missense	probably benign	0.05
IGL02607:Abca17	APN	17	24327705	nonsense	probably null
IGL02706:Abca17	APN	17	24298992	missense	probably benign	0.00
IGL02729:Abca17	APN	17	24280481	missense	probably benign	0.06
IGL02818:Abca17	APN	17	24300352	missense	probably benign	0.02
IGL02891:Abca17	APN	17	24281366	missense	probably damaging	0.99
IGL03236:Abca17	APN	17	24326476	splice site	probably benign
IGL03299:Abca17	APN	17	24265591	missense	probably damaging	1.00
basin	UTSW	17	24318185	missense	probably benign	0.01
Bowl	UTSW	17	24317238	missense	probably benign	0.09
R0018:Abca17	UTSW	17	24313188	splice site	probably null
R0467:Abca17	UTSW	17	24313177	splice site	probably benign
R0671:Abca17	UTSW	17	24281249	missense	probably benign	0.00
R1175:Abca17	UTSW	17	24289351	missense	possibly damaging	0.91
R1397:Abca17	UTSW	17	24285759	missense	probably benign	0.18
R1398:Abca17	UTSW	17	24328537	missense	probably damaging	0.96
R1678:Abca17	UTSW	17	24335620	missense	probably benign	0.05
R1696:Abca17	UTSW	17	24267658	missense	possibly damaging	0.90
R1781:Abca17	UTSW	17	24267557	missense	possibly damaging	0.95
R1845:Abca17	UTSW	17	24267716	missense	probably damaging	1.00
R1970:Abca17	UTSW	17	24307575	missense	probably benign	0.00
R1997:Abca17	UTSW	17	24285726	missense	probably benign	0.02
R2141:Abca17	UTSW	17	24334266	missense	probably benign	0.00
R2199:Abca17	UTSW	17	24335624	missense	probably benign	0.19
R2394:Abca17	UTSW	17	24281216	splice site	probably null
R2442:Abca17	UTSW	17	24328632	missense	probably benign	0.02
R2509:Abca17	UTSW	17	24289613	splice site	probably benign
R2848:Abca17	UTSW	17	24289507	missense	probably damaging	0.96
R2849:Abca17	UTSW	17	24289507	missense	probably damaging	0.96
R2859:Abca17	UTSW	17	24281314	missense	possibly damaging	0.46
R2879:Abca17	UTSW	17	24289507	missense	probably damaging	0.96
R2935:Abca17	UTSW	17	24289507	missense	probably damaging	0.96
R3153:Abca17	UTSW	17	24328746	missense	probably damaging	1.00
R3154:Abca17	UTSW	17	24328746	missense	probably damaging	1.00
R3434:Abca17	UTSW	17	24289537	missense	probably damaging	1.00
R3695:Abca17	UTSW	17	24289507	missense	probably damaging	0.96
R3905:Abca17	UTSW	17	24296283	missense	probably benign	0.13
R4282:Abca17	UTSW	17	24299060	missense	possibly damaging	0.49
R4334:Abca17	UTSW	17	24318268	missense	probably damaging	1.00
R4350:Abca17	UTSW	17	24279046	critical splice donor site	probably null
R4548:Abca17	UTSW	17	24334271	missense	possibly damaging	0.82
R4626:Abca17	UTSW	17	24321084	missense	probably damaging	1.00
R4722:Abca17	UTSW	17	24265429	missense	probably damaging	1.00
R4745:Abca17	UTSW	17	24307453	missense	probably damaging	1.00
R4818:Abca17	UTSW	17	24317161	missense	probably damaging	0.98
R5279:Abca17	UTSW	17	24289414	missense	probably damaging	1.00
R5310:Abca17	UTSW	17	24281230	missense	probably benign	0.00
R5320:Abca17	UTSW	17	24307567	missense	probably damaging	1.00
R5435:Abca17	UTSW	17	24267614	missense	possibly damaging	0.90
R5622:Abca17	UTSW	17	24327668	missense	probably benign	0.14
R5776:Abca17	UTSW	17	24295158	missense	probably benign	0.09
R5928:Abca17	UTSW	17	24318185	missense	probably benign	0.01
R6013:Abca17	UTSW	17	24287846	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24281245	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24281245	missense	possibly damaging	0.79
R6052:Abca17	UTSW	17	24318191	missense	probably benign	0.00
R6404:Abca17	UTSW	17	24265918	missense	probably benign	0.13
R6746:Abca17	UTSW	17	24346221	nonsense	probably null
R6819:Abca17	UTSW	17	24287793	missense	probably benign	0.01
R6828:Abca17	UTSW	17	24326415	missense	possibly damaging	0.91
R7043:Abca17	UTSW	17	24265500	missense	probably damaging	1.00
R7065:Abca17	UTSW	17	24327751	missense	probably damaging	1.00
R7123:Abca17	UTSW	17	24265975	missense	probably damaging	1.00
R7157:Abca17	UTSW	17	24335590	missense	possibly damaging	0.46
R7188:Abca17	UTSW	17	24335626	missense	possibly damaging	0.89
R7294:Abca17	UTSW	17	24321009	missense	not run
R7352:Abca17	UTSW	17	24289054	nonsense	probably null
R7355:Abca17	UTSW	17	24267647	missense	probably benign	0.00
R7358:Abca17	UTSW	17	24291555	missense	probably benign	0.00
R7411:Abca17	UTSW	17	24328569	missense	possibly damaging	0.52
R7915:Abca17	UTSW	17	24265533	missense	probably damaging	1.00
R8039:Abca17	UTSW	17	24328725	missense	probably damaging	1.00
R8095:Abca17	UTSW	17	24317222	missense	possibly damaging	0.77
R8308:Abca17	UTSW	17	24267683	missense	probably damaging	1.00
R8517:Abca17	UTSW	17	24317233	missense	probably benign	0.00
R8811:Abca17	UTSW	17	24317238	missense	probably benign	0.09
R8819:Abca17	UTSW	17	24328602	missense	probably damaging	1.00
R8820:Abca17	UTSW	17	24328602	missense	probably damaging	1.00
R8953:Abca17	UTSW	17	24299041	missense	probably benign
R9095:Abca17	UTSW	17	24281396	missense	probably damaging	0.97
R9313:Abca17	UTSW	17	24346233	missense	probably benign	0.00
R9314:Abca17	UTSW	17	24328619	missense	possibly damaging	0.91
R9347:Abca17	UTSW	17	24264505	missense	probably benign
R9351:Abca17	UTSW	17	24291777	missense	probably benign	0.00
R9387:Abca17	UTSW	17	24334281	missense	probably benign	0.02
R9388:Abca17	UTSW	17	24264299	missense	unknown
R9440:Abca17	UTSW	17	24280478	missense	probably benign	0.02
R9498:Abca17	UTSW	17	24265506	missense	probably damaging	1.00
R9654:Abca17	UTSW	17	24317125	missense	probably benign	0.09
R9709:Abca17	UTSW	17	24298960	missense	probably benign
R9770:Abca17	UTSW	17	24295147	missense	probably benign	0.00
R9773:Abca17	UTSW	17	24289591	missense	probably damaging	1.00
RF024:Abca17	UTSW	17	24287732	frame shift	probably null
RF029:Abca17	UTSW	17	24287727	critical splice donor site	probably benign
RF032:Abca17	UTSW	17	24287727	frame shift	probably null
RF036:Abca17	UTSW	17	24287727	critical splice donor site	probably benign
X0017:Abca17	UTSW	17	24317163	missense	probably benign	0.26
X0065:Abca17	UTSW	17	24334284	missense	probably damaging	1.00
Z1088:Abca17	UTSW	17	24279079	missense	probably damaging	0.96
Z1088:Abca17	UTSW	17	24279107	missense	probably benign	0.03
Z1088:Abca17	UTSW	17	24346219	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGAGCTGTCATCTTGACCTCC -3'
(R):5'- GCCAAGAAGGATTACATGTTGG -3'

Posted On

2017-07-14