Mutagenetix > Incidental Mutation

Incidental Mutation 'R7188:Abca17'

559456

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

045272-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7188 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24335626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 118 (Y118C)

Ref Sequence

ENSEMBL: ENSMUSP00000046218 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039324
AA Change: Y118C

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: Y118C

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

possibly damaging
Transcript: ENSMUST00000121226
AA Change: Y118C

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: Y118C

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	T	3: 36,950,013	T1624S	probably benign	Het
Abcb6	A	G	1: 75,174,137		probably null	Het
Acox2	T	A	14: 8,252,996	I236L	possibly damaging	Het
Adamts12	A	T	15: 11,336,325	K1499*	probably null	Het
Ankrd24	G	T	10: 81,636,390	E20*	probably null	Het
Arsa	A	T	15: 89,475,627	Y32*	probably null	Het
Atp9b	A	G	18: 80,917,826	S57P		Het
Atr	G	T	9: 95,862,791	E54*	probably null	Het
Bace1	A	G	9: 45,856,095	D192G	probably benign	Het
Cacna1d	T	C	14: 30,089,833	S1309G	probably benign	Het
Cd177	G	T	7: 24,756,647	T232K	probably damaging	Het
Chil4	T	A	3: 106,204,159	D213V	probably damaging	Het
Cmya5	A	T	13: 93,046,038	I3538N	probably damaging	Het
Cyp26a1	T	A	19: 37,699,305	M287K	possibly damaging	Het
Dcaf5	T	C	12: 80,399,958	D129G	probably damaging	Het
Dnah12	A	C	14: 26,814,413	K2095N	probably benign	Het
Dnpep	G	A	1: 75,316,057	S106L	probably damaging	Het
Dock2	C	T	11: 34,239,675	E1499K	possibly damaging	Het
Dus4l	A	G	12: 31,646,715	F88L	probably damaging	Het
Fcrls	A	C	3: 87,259,523	D54E	probably benign	Het
Fign	T	A	2: 63,979,606	H440L	possibly damaging	Het
Gabpa	A	G	16: 84,846,286	D157G	probably damaging	Het
Gapdh	T	A	6: 125,165,440		probably benign	Het
Gbp8	G	T	5: 105,016,215	R406S	probably benign	Het
Gm15922	A	T	7: 3,738,829	V184E	probably damaging	Het
Gm21775	A	G	Y: 10,553,894	R148G	possibly damaging	Het
Gm28363	G	A	1: 117,698,849	V6I	unknown	Het
Gmps	A	G	3: 64,011,561	D522G	probably damaging	Het
Gpr75	T	C	11: 30,892,687	S531P	probably damaging	Het
Hars2	G	T	18: 36,790,561	E468D	probably benign	Het
Jph4	C	A	14: 55,115,207	R23L	probably damaging	Het
Kctd12	T	A	14: 102,981,794	Y216F	probably benign	Het
L3mbtl1	G	A	2: 162,949,540		probably null	Het
Lama4	G	A	10: 38,965,733		probably benign	Het
Lyst	T	A	13: 13,752,090	S3494T	possibly damaging	Het
Mybpc2	A	G	7: 44,506,193	S879P	probably benign	Het
Ncaph	C	T	2: 127,122,114	V304M	probably benign	Het
Noto	A	T	6: 85,428,065	I229F	possibly damaging	Het
Olfr1061	T	A	2: 86,413,351	K234*	probably null	Het
Olfr1209	T	C	2: 88,909,859	D178G	probably damaging	Het
Olfr964-ps1	T	C	9: 39,686,435	M170V	unknown	Het
Pald1	A	T	10: 61,347,066	V368E	probably damaging	Het
Pde9a	T	A	17: 31,459,097	M217K	probably damaging	Het
Pitpnm2	G	T	5: 124,121,303	A1323E	probably benign	Het
Ppp1r32	T	A	19: 10,482,338	M2L	probably benign	Het
Ppp1r3a	T	C	6: 14,719,191	S575G	probably benign	Het
Prok1	T	C	3: 107,239,625	I9V	probably benign	Het
Ptprc	A	T	1: 138,071,180	V905D	probably damaging	Het
Rbm25	G	T	12: 83,663,998	G295V	unknown	Het
Rreb1	T	C	13: 37,916,568	M225T	possibly damaging	Het
Ryr3	T	C	2: 113,028,644	K55E	probably damaging	Het
Scgb2b26	G	T	7: 33,944,954	T4K	probably damaging	Het
Setx	C	A	2: 29,148,172	D1556E	probably benign	Het
Sft2d1	C	T	17: 8,323,332	T136I	possibly damaging	Het
Sirt5	C	T	13: 43,371,904	A63V	possibly damaging	Het
Skor2	A	G	18: 76,859,809	T409A	possibly damaging	Het
Slc12a6	T	C	2: 112,334,415	M153T	probably benign	Het
Slc17a2	A	G	13: 23,822,365	Y458C	probably damaging	Het
Slc36a2	A	G	11: 55,162,657	V385A	possibly damaging	Het
St6galnac5	A	T	3: 152,846,494	H145Q	probably damaging	Het
Tal1	T	A	4: 115,068,413	N226K	probably damaging	Het
Tgtp2	G	C	11: 49,059,308	R146G	probably damaging	Het
Uhrf1bp1l	T	C	10: 89,779,882	V129A	probably damaging	Het
Usp6nl	T	C	2: 6,440,519	S436P	probably benign	Het
Utp3	A	G	5: 88,554,762	E50G	probably benign	Het
Zfp12	A	T	5: 143,239,994	Q19L	probably damaging	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
R6063:Abca17	UTSW	17	24264344	missense	unknown
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
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'- ATCTGATGGGAAAATTGGCTTG -3'
(R):5'- TTCTGGGAGTGCAGTCTTCC -3'

Sequencing Primer
(F):5'- GGCTTGATTAACCCATACTCAGGG -3'
(R):5'- GAGTGCAGTCTTCCCAGTATAAG -3'

Posted On

2019-06-26