Mutagenetix > Incidental Mutation

Incidental Mutation 'R7157:Abca17'

557404

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24335590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 130 (V130E)

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: V130E

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: V130E

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: V130E

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: V130E

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,626,976	G701D	probably damaging	Het
6030468B19Rik	T	A	11: 117,802,954	N82K	probably damaging	Het
Alpk2	T	A	18: 65,266,277	K2077*	probably null	Het
Aox2	T	C	1: 58,283,492	F73S	probably benign	Het
Ap3b1	T	A	13: 94,532,034	C965*	probably null	Het
Arhgef10	T	A	8: 14,930,030	V90E	probably damaging	Het
Atp5s	A	T	12: 69,741,788	N154Y	probably benign	Het
Atr	T	A	9: 95,869,900	H523Q	probably benign	Het
Bicdl1	G	T	5: 115,651,857	Q511K	possibly damaging	Het
Capn15	A	T	17: 25,965,254	N150K	probably damaging	Het
Card6	A	T	15: 5,100,109	W602R	probably benign	Het
Clnk	A	T	5: 38,769,891	S82T	possibly damaging	Het
Cmah	T	C	13: 24,436,629	I282T	probably damaging	Het
Cog8	A	G	8: 107,052,499	I382T	probably benign	Het
Dhrs7c	G	T	11: 67,809,896		probably null	Het
Dhrs9	T	A	2: 69,393,158	D83E	probably damaging	Het
Dmgdh	G	A	13: 93,715,535	G624E	probably damaging	Het
Dnajc30	C	A	5: 135,064,715	F155L	probably damaging	Het
Drc7	A	C	8: 95,074,150	K600T	probably damaging	Het
Efhb	A	C	17: 53,400,900	I745S	probably damaging	Het
Fasn	T	A	11: 120,810,465	K1988*	probably null	Het
Gad2	T	C	2: 22,635,023	L273P	probably damaging	Het
Gm45861	A	T	8: 27,542,508	K887*	probably null	Het
Gm45861	A	T	8: 27,542,509	K887I	unknown	Het
Gm9195	A	G	14: 72,480,781	Y152H	probably damaging	Het
Grip1	G	A	10: 119,945,156	D237N	probably damaging	Het
Hamp	A	C	7: 30,942,536	C65G	possibly damaging	Het
Hes3	A	G	4: 152,288,124		probably benign	Het
Hgh1	T	C	15: 76,370,450	I342T	probably damaging	Het
Hlcs	T	A	16: 94,268,164	K66*	probably null	Het
Ift80	A	T	3: 68,990,944	C19*	probably null	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kbtbd12	C	T	6: 88,618,668	C60Y	probably damaging	Het
Kdm4c	T	A	4: 74,345,567	V696E	probably benign	Het
Lect2	A	G	13: 56,542,990	I117T	unknown	Het
Lipn	T	A	19: 34,076,990	Y209*	probably null	Het
Lpin3	G	A	2: 160,898,707	V391I	probably benign	Het
Mocs2	A	T	13: 114,824,607	I47L	probably benign	Het
Mogs	T	A	6: 83,118,507	H768Q	probably benign	Het
Nbeal1	T	A	1: 60,237,158	I686N	probably damaging	Het
Nbeal1	T	A	1: 60,260,634	C1376*	probably null	Het
Ninl	A	G	2: 150,949,343	Y1087H	possibly damaging	Het
Olfr1076	T	A	2: 86,509,025	C189S	probably damaging	Het
Olfr1338	A	G	4: 118,754,418	V42A	possibly damaging	Het
Olfr518	A	G	7: 108,881,268	F113L	probably benign	Het
Olfr623	A	C	7: 103,660,581	L223R	probably damaging	Het
Olfr729	A	G	14: 50,148,232	L214S	probably damaging	Het
Olfr750	A	G	14: 51,071,159	V78A	possibly damaging	Het
Pkn1	A	G	8: 83,671,734	F768S	probably damaging	Het
Plekha2	A	G	8: 25,063,941	F82L	probably damaging	Het
Ppie	T	C	4: 123,135,107	E111G	probably benign	Het
Rps6ka5	T	C	12: 100,581,420	Y277C	probably damaging	Het
Scgb2b12	A	G	7: 32,326,677	V30A	probably benign	Het
Serac1	A	T	17: 6,074,201	S16T	probably benign	Het
Sf3a3	T	C	4: 124,722,900	Y192H	probably damaging	Het
Slc14a1	A	G	18: 78,102,411	V436A	probably benign	Het
Smc3	T	A	19: 53,641,898	M1112K	probably damaging	Het
Tnk2	G	A	16: 32,681,168	G1017E	probably damaging	Het
Tnn	T	A	1: 160,126,377	K603*	probably null	Het
Trpm6	T	C	19: 18,838,098	S1183P	possibly damaging	Het
Ttn	A	T	2: 76,784,380	V16964E	possibly damaging	Het
Usp17le	G	A	7: 104,768,489	T482I	probably benign	Het
Vmn1r219	T	A	13: 23,163,355	M238K	probably damaging	Het
Wfs1	C	T	5: 36,967,172	G792S	probably benign	Het
Xpa	A	T	4: 46,185,612	L122Q	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
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'- CTCCTCGAAAAGACAACGGAGTG -3'
(R):5'- AAGCTGGAGTCTCAAGTGTC -3'

Sequencing Primer
(F):5'- TGAGTTGCAAAACGTGAACCTG -3'
(R):5'- AAGCTGGAGTCTCAAGTGTCCTTAG -3'

Posted On

2019-06-26