Mutagenetix > Incidental Mutations

Incidental Mutation 'R8953:Abca17'

681788

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24299041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 765 (V765L)

Ref Sequence

ENSEMBL: ENSMUSP00000046218 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably benign
Transcript: ENSMUST00000039324
AA Change: V765L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: V765L

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

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: V765L

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,915,021	V88A	probably benign	Het
Atp2b2	T	A	6: 113,760,669	T915S	possibly damaging	Het
BC017158	T	G	7: 128,273,506	Q423H	probably benign	Het
Cacna1s	C	T	1: 136,097,432	H992Y	possibly damaging	Het
Clpp	T	A	17: 56,991,373	M113K	probably damaging	Het
Csn3	A	G	5: 87,929,950	Q105R	possibly damaging	Het
Dcaf1	G	A	9: 106,858,343	R830Q	possibly damaging	Het
Dnah17	A	T	11: 118,125,412		probably benign	Het
Etv4	A	G	11: 101,771,687		probably null	Het
Fos	A	G	12: 85,476,052	D246G	probably benign	Het
Foxo1	T	C	3: 52,346,254	S613P	probably damaging	Het
Gabra2	A	T	5: 71,006,182	C261S	probably damaging	Het
Garem1	A	T	18: 21,131,331		probably null	Het
Gatsl3	A	T	11: 4,221,249	I244F	probably benign	Het
Gm10436	A	G	12: 88,177,300	C248R	probably benign	Het
Gmip	T	G	8: 69,816,777	L533R	probably damaging	Het
Gpr1	A	G	1: 63,183,113	L321P	probably damaging	Het
Havcr1	A	G	11: 46,756,179	T147A	possibly damaging	Het
Helz2	C	T	2: 181,233,091	R1870Q	probably damaging	Het
Kcnk3	A	C	5: 30,622,038	K144T	probably damaging	Het
Lama5	A	G	2: 180,193,520	V1293A	probably damaging	Het
Man2b1	A	G	8: 85,091,910	I498V	probably benign	Het
Map6	T	C	7: 99,315,871	L289P	probably damaging	Het
Mapk7	G	T	11: 61,492,966	D43E	possibly damaging	Het
Medag	A	G	5: 149,427,300	Y194C	probably damaging	Het
Mertk	A	G	2: 128,778,796		probably benign	Het
Mier3	C	A	13: 111,706,053	T136K	probably benign	Het
Ndc1	T	A	4: 107,381,693	W242R	probably damaging	Het
Nlrp1b	A	G	11: 71,161,806	V932A	probably damaging	Het
Olfr1138	A	T	2: 87,738,027	M99K	probably benign	Het
Olfr164	T	A	16: 19,286,519	M75L	probably benign	Het
Olfr460	G	T	6: 40,571,742	A119S	possibly damaging	Het
Olfr476	G	A	7: 107,968,044	V216I	probably benign	Het
Otub2	A	T	12: 103,404,326	D289V	probably damaging	Het
P2rx3	A	G	2: 85,023,498	V133A	possibly damaging	Het
Pde4a	C	A	9: 21,210,734	T585K	probably damaging	Het
Pik3c2a	A	T	7: 116,388,085	Y534N	probably benign	Het
Pip5kl1	A	G	2: 32,579,979	D232G	possibly damaging	Het
Pklr	C	T	3: 89,142,305	S234L	probably damaging	Het
Pkn1	T	C	8: 83,684,186	K271E	probably damaging	Het
Plch1	T	G	3: 63,731,705	H449P	possibly damaging	Het
Pparg	T	C	6: 115,441,546	L92P	possibly damaging	Het
Ptgdr2	C	T	19: 10,940,422	T101I	probably benign	Het
Rad54l2	A	T	9: 106,693,262	H1286Q	probably benign	Het
Ralgapa1	A	G	12: 55,820,761	S3P	probably damaging	Het
Rictor	G	A	15: 6,794,447	V1598I	probably benign	Het
Rph3al	G	T	11: 75,906,575	C98*	probably null	Het
Rpn2	A	G	2: 157,321,826	T613A	probably damaging	Het
Rps20	T	A	4: 3,834,617	M82L	probably benign	Het
Sh3bp4	A	G	1: 89,144,437	I336V	probably damaging	Het
Slc6a20b	T	C	9: 123,609,189	N174S	probably damaging	Het
Spta1	A	G	1: 174,230,675	N1903S	probably benign	Het
Ssfa2	T	C	2: 79,660,495	Y986H	probably damaging	Het
Tacc2	T	C	7: 130,625,757	S1391P	probably benign	Het
Terb1	T	A	8: 104,468,799	D570V	probably damaging	Het
Trhde	T	A	10: 114,503,061	I615F	probably damaging	Het
Ttc13	T	C	8: 124,675,349	N556S	probably damaging	Het
Ttn	T	A	2: 76,737,884	D19228V	probably damaging	Het
Unc13c	T	A	9: 73,932,762	Y269F	probably benign	Het
Usp33	T	A	3: 152,374,783	V517E	possibly damaging	Het
Wee1	A	G	7: 110,124,484	D202G	probably benign	Het
Zfp318	T	A	17: 46,420,430	S1120T	probably benign	Het
Zfr2	C	A	10: 81,248,437	N650K	probably damaging	Het
Znfx1	G	A	2: 167,055,501	T501I	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
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
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
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'- AAGACTATTTTGCATGTGGGC -3'
(R):5'- TCTCCTGATTCTGAAACAAGAGC -3'

Sequencing Primer
(F):5'- CATGTGGGCATGTGTAAAGG -3'
(R):5'- CCAGGTCATTACAGTTTAAACCTC -3'

Posted On

2021-08-31