Mutagenetix > Incidental Mutation

Incidental Mutation 'R2141:Abca17'

236297

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

040144-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24334266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 157 (Y157F)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably benign
Transcript: ENSMUST00000039324
AA Change: Y157F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: Y157F

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

probably benign
Transcript: ENSMUST00000121226
AA Change: Y157F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: Y157F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (107/110)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	G	T	11: 58,423,926	C150F	probably damaging	Het
4932431P20Rik	T	C	7: 29,531,510		noncoding transcript	Het
Aagab	T	A	9: 63,616,675		probably null	Het
Abca15	A	C	7: 120,407,474	T1654P	probably damaging	Het
Aftph	A	T	11: 20,698,318	L813*	probably null	Het
Agap1	T	C	1: 89,837,755	I615T	probably damaging	Het
Ak3	T	G	19: 29,022,847	Q221H	probably benign	Het
Aldoa	A	G	7: 126,797,642		probably null	Het
Anxa8	T	C	14: 34,091,916		probably null	Het
Baz2a	A	G	10: 128,123,612	D1329G	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cep70	A	G	9: 99,296,385	Y512C	probably damaging	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Diablo	A	G	5: 123,523,361	V24A	probably benign	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Fam173b	T	C	15: 31,609,572	F146L	probably benign	Het
Fam26f	G	T	10: 34,127,695	A72E	probably damaging	Het
Fancd2	A	G	6: 113,549,321	N335S	probably benign	Het
Flnc	A	G	6: 29,448,675	Y1304C	probably damaging	Het
Fubp3	A	G	2: 31,600,557		probably benign	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gjc3	A	C	5: 137,957,546	L159R	probably damaging	Het
Gli1	A	G	10: 127,336,727	L182P	probably damaging	Het
Gm21957	G	T	7: 125,219,453		noncoding transcript	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gm5885	A	G	6: 133,529,275		noncoding transcript	Het
Gm8989	T	A	7: 106,329,956	T245S	probably damaging	Het
Gon4l	A	T	3: 88,887,595	T402S	possibly damaging	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
Helb	A	T	10: 120,106,021	M254K	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Impdh2	A	G	9: 108,565,347	E305G	possibly damaging	Het
Ints7	T	A	1: 191,604,860	C351S	possibly damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Kcnq3	T	C	15: 65,995,851	M648V	probably benign	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Kif18a	T	A	2: 109,333,503	N732K	probably benign	Het
Kif21b	C	T	1: 136,152,264	R513W	probably damaging	Het
Klhl36	T	C	8: 119,876,772	C589R	possibly damaging	Het
Lck	A	G	4: 129,548,920	Y481H	probably damaging	Het
Lmtk2	A	G	5: 144,147,615	Y156C	probably damaging	Het
Mical3	A	T	6: 121,031,134		probably null	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myo10	A	G	15: 25,714,108	E87G	probably benign	Het
Myo18b	T	C	5: 112,874,026	K500R	probably benign	Het
N4bp2l2	A	T	5: 150,647,536	I458N	probably damaging	Het
Nat10	T	C	2: 103,731,303		probably null	Het
Nfasc	G	A	1: 132,596,645	P932L	probably damaging	Het
Nipa1	C	A	7: 55,997,511		probably null	Het
Nkpd1	A	G	7: 19,524,237	Q647R	probably damaging	Het
Nlrc4	T	A	17: 74,447,951		probably benign	Het
Nmbr	C	A	10: 14,770,442	Y353*	probably null	Het
Nos1ap	T	A	1: 170,329,166	D241V	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1025-ps1	A	G	2: 85,918,827	I301V	probably null	Het
Olfr1173	A	G	2: 88,275,010	V13A	probably benign	Het
Olfr1289	A	T	2: 111,483,630	T95S	probably benign	Het
Olfr770	A	G	10: 129,133,006	I254T	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Pank1	G	A	19: 34,878,980	R33C	possibly damaging	Het
Pcmtd1	C	T	1: 7,169,565	R77C	probably damaging	Het
Phkg2	G	A	7: 127,582,214		probably null	Het
Plcb4	G	A	2: 135,976,099	V762M	probably damaging	Het
Pramel7	T	A	2: 87,489,977	H324L	probably damaging	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Rai1	C	A	11: 60,189,467	S1452R	possibly damaging	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rev3l	T	C	10: 39,848,049	V785A	probably benign	Het
Rufy2	G	T	10: 62,990,994	R104L	probably damaging	Het
Senp6	T	A	9: 80,123,820	N8K	probably damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Sipa1l2	G	A	8: 125,491,491	P369L	probably benign	Het
Slc43a1	T	C	2: 84,840,961	L37P	probably damaging	Het
Slf1	T	A	13: 77,049,219		probably null	Het
Ssr2	T	A	3: 88,576,642		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Tas2r115	T	C	6: 132,737,358	K210R	probably benign	Het
Tbx18	A	G	9: 87,715,653	V276A	probably damaging	Het
Tie1	G	A	4: 118,472,811	R1072*	probably null	Het
Tm2d2	C	A	8: 25,022,658	T174K	probably damaging	Het
Tmem98	A	G	11: 80,814,332	D82G	possibly damaging	Het
Tmub2	A	G	11: 102,287,553	E94G	possibly damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Tonsl	A	T	15: 76,632,661	I923N	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttc21a	G	A	9: 119,964,295	V977M	probably damaging	Het
Ube2ql1	T	C	13: 69,738,664	D226G	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Zadh2	T	C	18: 84,094,543	Y115H	probably benign	Het
Zfp408	A	G	2: 91,647,849		probably benign	Het
Zfp473	T	C	7: 44,733,077	T610A	possibly damaging	Het
Zfp804b	A	G	5: 6,772,583	V160A	probably benign	Het
Zfp960	A	G	17: 17,087,884	T287A	probably benign	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
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
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'- CAGTAATGTCACAGTAATGCCACAG -3'
(R):5'- ATTTTCCCATGTTGGTCACAGG -3'

Sequencing Primer
(F):5'- GCCACAGGCTTCAGAGTTTC -3'
(R):5'- CATGTTGGTCACAGGGATAATTTCC -3'

Posted On

2014-10-01