Mutagenetix > Incidental Mutation

Incidental Mutation 'R6052:Abca17'

484195

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

044220-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24318191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 473 (F473L)

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: F473L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: F473L

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: F473L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: F473L

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

0.0900

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

96% (80/83)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	C	5: 90,253,832	I1449V	probably benign	Het
Aox4	T	A	1: 58,254,318	L943*	probably null	Het
Arap1	G	A	7: 101,404,033	V1257M	probably damaging	Het
B3gnt9	T	C	8: 105,254,598	S53G	probably benign	Het
Baiap3	A	T	17: 25,248,470		probably benign	Het
Canx	T	C	11: 50,297,119	D554G	possibly damaging	Het
Cbfa2t2	T	C	2: 154,510,581	V165A	probably damaging	Het
Ccdc17	C	T	4: 116,599,948		probably null	Het
Cdcp1	A	G	9: 123,185,331	I126T	probably benign	Het
Cdk13	A	T	13: 17,721,215	D1036E	probably damaging	Het
Cfap157	A	G	2: 32,779,851	L240P	probably damaging	Het
Clec18a	C	A	8: 111,078,816	E218*	probably null	Het
Col3a1	T	C	1: 45,345,013		probably benign	Het
Dennd4a	A	G	9: 64,886,945	E682G	probably damaging	Het
Dnah14	T	C	1: 181,666,487	V1736A	possibly damaging	Het
Dpep2	T	A	8: 105,990,638	D162V	possibly damaging	Het
Drd3	C	A	16: 43,821,283	P321T	probably benign	Het
Egfr	A	G	11: 16,911,554	H1111R	probably benign	Het
Entpd1	T	C	19: 40,720,484	S58P	probably damaging	Het
Epha3	C	A	16: 63,603,604	V541L	possibly damaging	Het
Eri3	T	A	4: 117,564,628	D34E	probably damaging	Het
Eya1	T	C	1: 14,283,150	D58G	probably damaging	Het
Fat3	T	A	9: 15,922,679	S26C	probably null	Het
Fgl1	T	C	8: 41,200,511	D115G	probably damaging	Het
Fitm2	T	C	2: 163,470,116	Y59C	probably damaging	Het
Fras1	T	A	5: 96,764,866	I3343N	probably damaging	Het
Gba2	C	A	4: 43,568,330	C679F	probably damaging	Het
Glis2	G	A	16: 4,613,739		probably benign	Het
Gm13088	T	A	4: 143,655,652	D158V	probably damaging	Het
Gm5150	T	A	3: 15,990,753	I103F	probably damaging	Het
H2-Ke6	A	G	17: 34,027,455	L118P	probably damaging	Het
Hhipl2	T	C	1: 183,424,057	S313P	possibly damaging	Het
Hmgcs1	A	G	13: 119,705,459	D474G	probably benign	Het
Homer3	C	T	8: 70,291,426	Q267*	probably null	Het
Igkv8-28	C	T	6: 70,143,689	G90D	probably damaging	Het
Kalrn	T	A	16: 34,360,885	I128F	probably damaging	Het
Krt4	A	G	15: 101,922,759		probably null	Het
Lamb2	T	A	9: 108,487,612	C1188*	probably null	Het
Lsr	A	T	7: 30,958,617	M355K	probably damaging	Het
Map3k11	T	G	19: 5,697,402	D555E	probably benign	Het
Myocd	A	G	11: 65,196,256	Y282H	probably damaging	Het
Nae1	T	C	8: 104,534,544	I7M	probably benign	Het
Nprl3	G	T	11: 32,255,453	H102N	possibly damaging	Het
Nup62	T	A	7: 44,829,040	F160I	possibly damaging	Het
Olfr1490	C	A	19: 13,654,507	P26Q	possibly damaging	Het
Olfr456	T	A	6: 42,486,654	T180S	possibly damaging	Het
Olfr502	A	G	7: 108,523,738	S71P	probably benign	Het
Olfr709-ps1	A	T	7: 106,926,689	F257I	probably benign	Het
Olfr781	C	A	10: 129,333,202	T107K	possibly damaging	Het
Osbpl10	T	C	9: 115,067,315		probably null	Het
Pcdh9	C	T	14: 93,885,846	V963I	probably benign	Het
Phf12	A	G	11: 78,018,218	R375G	probably benign	Het
Piezo1	G	A	8: 122,506,269	T108M	probably damaging	Het
Plxnc1	T	A	10: 94,943,773	Q269L	probably benign	Het
Pomgnt1	T	A	4: 116,151,602	N11K	possibly damaging	Het
Prkd1	A	T	12: 50,366,300		probably null	Het
Prpf40a	T	C	2: 53,159,281	T190A	probably benign	Het
Prrc2b	A	C	2: 32,212,285	H790P	possibly damaging	Het
Rest	T	G	5: 77,281,180	V482G	probably benign	Het
Ros1	T	A	10: 52,163,903	I322L	probably benign	Het
Rpl18	G	A	7: 45,720,130		probably benign	Het
Rsad2	G	A	12: 26,450,578	H237Y	probably benign	Het
Sbf2	A	G	7: 110,441,534	L362S	probably damaging	Het
Sgsm3	A	G	15: 81,009,263	T409A	probably benign	Het
Slc16a14	T	C	1: 84,912,709	T292A	possibly damaging	Het
Spg11	T	G	2: 122,097,356	K649T	probably damaging	Het
Srprb	T	A	9: 103,190,216	I268F	possibly damaging	Het
Tap2	G	A	17: 34,214,709	G566S	probably damaging	Het
Tecpr2	T	C	12: 110,918,891	V168A	possibly damaging	Het
Tln1	G	C	4: 43,555,052	F259L	probably damaging	Het
Tmem181a	T	A	17: 6,280,615	L50H	probably damaging	Het
Tshz1	A	G	18: 84,014,069	I738T	probably damaging	Het
Tspan12	T	C	6: 21,772,638	E304G	probably benign	Het
Urb1	C	T	16: 90,762,383	G1671S	probably damaging	Het
Vmn2r2	T	C	3: 64,117,361	S600G	possibly damaging	Het
Wnt3	C	A	11: 103,808,174	Y35*	probably null	Het
Xpo7	T	C	14: 70,683,719	Y603C	possibly damaging	Het
Zfp457	G	A	13: 67,293,951	H91Y	probably damaging	Het
Zfp664	T	A	5: 124,886,186	C215S	unknown	Het
Zfp882	G	A	8: 71,914,505	G392D	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
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
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'- TATGCTCCGCTGCCAACTAC -3'
(R):5'- CAACTAAGGAACATGGTTTTGGG -3'

Sequencing Primer
(F):5'- CTGCCAACTACAGGGTGATAGTTAG -3'
(R):5'- AGTGGCCTCAGTTCAATGAC -3'

Posted On

2017-07-14