Mutagenetix > Incidental Mutations

Incidental Mutation 'R4722:Abca17'

354565

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

041987-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24265429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1620 (F1620L)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably damaging
Transcript: ENSMUST00000039324
AA Change: F1620L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: F1620L

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 damaging
Transcript: ENSMUST00000121226
AA Change: F1620L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: F1620L

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	T	12: 55,061,137	D92E	probably benign	Het
Abcf1	T	C	17: 35,958,041		probably benign	Het
Adtrp	T	C	13: 41,767,347	H248R	probably benign	Het
Aldh1b1	T	G	4: 45,803,472	F337V	probably damaging	Het
Amz2	C	T	11: 109,434,631	L272F	probably damaging	Het
Asic2	A	T	11: 81,968,183	M1K	probably null	Het
Avpr1a	T	A	10: 122,449,001	V66E	possibly damaging	Het
AW554918	C	A	18: 25,174,715	Y28*	probably null	Het
Ccdc130	A	T	8: 84,258,810	C277S	probably benign	Het
Cdc25b	C	T	2: 131,193,351	P343L	probably damaging	Het
Chd7	T	A	4: 8,822,445	I846K	probably damaging	Het
Dnajc13	A	T	9: 104,213,818	M688K	probably benign	Het
Dock2	T	A	11: 34,695,471	I505F	probably damaging	Het
Dpy19l4	A	G	4: 11,290,521	V290A	possibly damaging	Het
Dtl	G	T	1: 191,556,841	Q254K	possibly damaging	Het
Enpp2	T	G	15: 54,887,589	K265T	probably damaging	Het
Epm2aip1	TGTCGCCG	TG	9: 111,272,084		probably benign	Het
Fam133b	T	A	5: 3,543,949		probably null	Het
Fuom	A	G	7: 140,099,567		probably benign	Het
Fut9	T	C	4: 25,799,734		probably benign	Het
Gas8	T	A	8: 123,525,635	I171N	possibly damaging	Het
Gipc3	T	G	10: 81,341,295	D147A	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm5591	T	C	7: 38,519,148	K767R	probably damaging	Het
Kctd8	G	A	5: 69,341,201	P34L	possibly damaging	Het
Kmt2b	G	A	7: 30,583,202	R403C	probably damaging	Het
Krt84	A	T	15: 101,528,411	I396N	probably damaging	Het
Lrrk2	C	A	15: 91,688,901	F217L	probably damaging	Het
Med27	T	A	2: 29,524,435	D290E	probably damaging	Het
Mical3	T	C	6: 121,038,525	Q184R	probably benign	Het
Mlxip	A	T	5: 123,447,202	K591M	probably benign	Het
Mutyh	T	A	4: 116,816,872	L233H	probably damaging	Het
Naip6	G	T	13: 100,307,072	H253N	possibly damaging	Het
Nynrin	A	G	14: 55,854,395	E56G	probably damaging	Het
Oip5	C	T	2: 119,613,011		probably null	Het
Olfr1199	T	G	2: 88,756,012	H221P	possibly damaging	Het
Olfr1211	T	C	2: 88,929,980	I112V	possibly damaging	Het
Olfr1335	T	C	4: 118,808,949	N305S	probably damaging	Het
Olfr17	T	A	7: 107,097,570	I35N	possibly damaging	Het
Olfr485	T	A	7: 108,159,238	I212F	probably benign	Het
Oxr1	T	C	15: 41,813,649	S132P	probably damaging	Het
Pcdhac1	C	T	18: 37,091,880	T582I	probably damaging	Het
Prl7a2	A	G	13: 27,660,875	I176T	probably damaging	Het
Rabgap1l	T	C	1: 160,342,164	T30A	possibly damaging	Het
Rapgef2	A	G	3: 79,069,173	M1294T	probably benign	Het
Rbm22	G	A	18: 60,564,391	R56H	probably damaging	Het
Rnmt	T	A	18: 68,305,881	N20K	probably damaging	Het
Scn7a	T	A	2: 66,700,884	T550S	possibly damaging	Het
Shank1	T	A	7: 44,313,214	Y117*	probably null	Het
Skint5	T	A	4: 113,893,855	K331I	unknown	Het
Slc5a1	A	G	5: 33,146,711	Y290C	possibly damaging	Het
Slfn14	T	C	11: 83,283,418	E249G	probably benign	Het
Smarcal1	T	C	1: 72,611,337	S544P	probably damaging	Het
St6galnac3	A	T	3: 153,411,529	Y186N	probably damaging	Het
Tbc1d1	T	C	5: 64,263,557	F346S	probably damaging	Het
Tdrd5	A	T	1: 156,302,375	I75K	probably benign	Het
Tnrc6a	T	C	7: 123,192,090	M1737T	possibly damaging	Het
Toe1	A	T	4: 116,805,200	Y283N	probably damaging	Het
Tubal3	G	T	13: 3,928,185	G34C	probably damaging	Het
Uxs1	A	G	1: 43,774,846	L77P	probably damaging	Het
Vmn1r212	T	C	13: 22,883,908	Y85C	probably damaging	Het
Zdhhc4	A	G	5: 143,321,781	S162P	probably damaging	Het
Zfp712	A	G	13: 67,042,113	S117P	probably benign	Het
Zic4	G	T	9: 91,379,204	G164C	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
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
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'- TTGGGCCAGGCAGGTAATATTG -3'
(R):5'- TTCCCCAGTATGGAGGAGTG -3'

Sequencing Primer
(F):5'- CCAGGCAGGTAATATTGAAGCATG -3'
(R):5'- AGTGTGAAGCCTTATGTACCAG -3'

Posted On

2015-10-21