Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Abca17'

404814

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

042893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24281230 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1329 (K1329R)

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: K1329R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: K1329R

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: K1329R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: K1329R

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: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	C	1: 26,685,088	V337G	probably benign	Het
Abca15	A	T	7: 120,332,616	I31L	possibly damaging	Het
Acap2	A	G	16: 31,133,609	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,476,690	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,615,368	S870T	possibly damaging	Het
Anapc4	A	G	5: 52,859,159	E493G	probably benign	Het
Ap2a1	A	G	7: 44,906,065		probably null	Het
Arhgef38	A	G	3: 133,116,466	L179P	probably damaging	Het
Bicral	T	C	17: 46,813,983	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,715,776	L154Q	probably damaging	Het
Cd40	T	C	2: 165,063,563		probably null	Het
Celsr1	T	A	15: 85,926,222	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,992,033	L261H	probably damaging	Het
Cep57	G	A	9: 13,818,868	H98Y	probably damaging	Het
Chrna7	A	T	7: 63,106,057	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,778,030	M374L	probably damaging	Het
Cyp4f13	T	C	17: 32,925,821	D372G	probably damaging	Het
Dazl	C	A	17: 50,281,283	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,328	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,334,208	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,242,687	H838Q	probably damaging	Het
Erich3	A	T	3: 154,763,580	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,986,508	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,163,151	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,869,968	M1T	probably null	Het
Glb1l2	C	T	9: 26,796,866		probably benign	Het
Gnl2	A	G	4: 125,052,840	K618R	probably benign	Het
Greb1	A	T	12: 16,716,759	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,873,792	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927	S23P	possibly damaging	Het
Htr6	G	T	4: 139,061,666	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,648,804	F447L	probably benign	Het
Kansl1	T	C	11: 104,424,858	Y118C	possibly damaging	Het
Khk	G	A	5: 30,927,029	V118M	probably benign	Het
Klra17	T	A	6: 129,868,708	K181M	probably damaging	Het
Lbh	T	C	17: 72,921,292		probably null	Het
Lmo2	T	C	2: 103,976,100	I108T	probably damaging	Het
Mgat5	T	A	1: 127,387,514		probably null	Het
Mink1	T	C	11: 70,607,343	V525A	probably benign	Het
Myo10	C	A	15: 25,778,078		probably null	Het
Nlrp2	T	C	7: 5,325,008	N682S	probably benign	Het
Nr2e3	G	A	9: 59,949,334		probably benign	Het
Olfr1415	T	C	1: 92,491,036	T240A	probably damaging	Het
Olfr467	T	C	7: 107,814,964	C129R	probably damaging	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pfas	G	A	11: 68,988,021	S1319F	probably damaging	Het
Phf3	T	C	1: 30,803,806	K2024R	probably damaging	Het
Pld4	G	A	12: 112,768,612	C501Y	probably damaging	Het
Psg16	C	T	7: 17,090,635	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,942,373		probably null	Het
Rimkla	C	A	4: 119,477,852	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,327	E113G	probably damaging	Het
Rspry1	C	T	8: 94,623,185	T67I	probably benign	Het
Skint6	C	A	4: 113,184,768	E292*	probably null	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,374	M170T	probably benign	Het
Slc15a5	T	C	6: 138,073,036	N127S	probably benign	Het
Slc39a10	G	A	1: 46,836,125	H6Y	probably damaging	Het
Sugct	A	T	13: 17,252,560	C338*	probably null	Het
Tbk1	A	T	10: 121,556,051	M486K	probably benign	Het
Terf1	A	T	1: 15,805,685	E3V	probably damaging	Het
Thoc5	T	A	11: 4,910,648	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,562,099		probably benign	Het
Tmem57	T	C	4: 134,837,019		probably benign	Het
Tmtc1	T	A	6: 148,355,412		probably benign	Het
Zfp322a	A	T	13: 23,357,362	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,613,918	H111Q	possibly 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
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'- TACTCCCCAGGTGACCAGTATG -3'
(R):5'- GGATATGTGGTCCAAGAGAACATC -3'

Sequencing Primer
(F):5'- TATGTGGACCAGGGCCTCAG -3'
(R):5'- GAACATCTACGCCTGGGAATCTCTG -3'

Posted On

2016-07-22