Mutagenetix > Incidental Mutations

Incidental Mutation 'R9351:Abca17'

708095

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 #

R9351 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24291777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 909 (S909L)

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: S909L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: S909L

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: S909L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: S909L

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: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,206	T84A	probably benign	Het
A930017K11Rik	G	A	17: 25,947,144	Q390*	probably null	Het
Adamtsl3	A	T	7: 82,520,721	Y371F	possibly damaging	Het
Adcy9	A	T	16: 4,418,364	S394R	probably damaging	Het
Ahcyl1	T	C	3: 107,667,695	N444S	probably damaging	Het
Ahnak	A	C	19: 9,007,868	D2172A	probably damaging	Het
Arhgef28	C	T	13: 97,994,068	D421N	probably benign	Het
Brd1	T	A	15: 88,730,104	E196V	possibly damaging	Het
Cabs1	A	G	5: 87,980,441	D317G	probably damaging	Het
Ccdc96	T	C	5: 36,484,725	I25T	unknown	Het
Clgn	A	G	8: 83,426,589	R607G	possibly damaging	Het
Clp1	T	C	2: 84,723,851	K325E	probably benign	Het
Dcun1d1	A	T	3: 35,921,036	I52K	probably benign	Het
Dync2h1	G	A	9: 7,176,911	T16I	probably damaging	Het
Epb41l5	A	G	1: 119,549,909	F711L	probably benign	Het
Esr1	G	A	10: 4,746,763	W204*	probably null	Het
Fat2	A	G	11: 55,281,301	L2862P	probably damaging	Het
Frmd3	A	G	4: 74,135,831	E159G	probably damaging	Het
Gm8994	A	T	6: 136,329,773	I411F	probably benign	Het
Gsto2	T	A	19: 47,886,169	C243S	possibly damaging	Het
Heg1	A	G	16: 33,725,497	H206R	probably benign	Het
Ifi203	A	G	1: 173,922,567	V862A	probably benign	Het
Ippk	C	T	13: 49,461,631	H497Y	probably benign	Het
Irf5	A	T	6: 29,531,318	N61I	possibly damaging	Het
Iws1	G	A	18: 32,080,160	E214K	possibly damaging	Het
Kcnj12	C	T	11: 61,069,847	H324Y	probably damaging	Het
Kdm2a	C	T	19: 4,343,113	D405N	probably benign	Het
Lars2	A	G	9: 123,436,301	Q474R	probably benign	Het
Lctl	T	C	9: 64,133,191	F472S	possibly damaging	Het
Map4k2	T	C	19: 6,351,193	S590P	probably benign	Het
Mcf2l	G	T	8: 13,000,757	L337F	possibly damaging	Het
Mvp	A	G	7: 126,996,263	V225A	probably damaging	Het
Nfat5	T	A	8: 107,339,278	D241E	probably damaging	Het
Olfr430	T	A	1: 174,069,455	D52E	probably benign	Het
Pagr1a	A	T	7: 127,016,901	H7Q	probably damaging	Het
Parp8	G	T	13: 116,864,245	Q787K	probably damaging	Het
Pcdhb2	C	A	18: 37,296,316	N90K	probably damaging	Het
Pde6h	A	G	6: 136,959,334	K25R	probably benign	Het
Psd3	C	A	8: 67,960,649	A410S	probably benign	Het
Pus10	A	G	11: 23,667,311	N8S	probably benign	Het
Rnf115	T	C	3: 96,788,678	L260S	probably damaging	Het
Sdsl	A	T	5: 120,463,094	Y38N	probably benign	Het
Sf1	A	G	19: 6,365,664	D11G	probably damaging	Het
Stxbp5l	A	G	16: 37,115,685	Y1177H	probably damaging	Het
Taar2	G	A	10: 23,941,002	V147I	probably benign	Het
Tmed3	A	T	9: 89,702,927	F92I	possibly damaging	Het
Tmprss15	T	C	16: 79,035,198	T357A	probably damaging	Het
Trbv14	A	T	6: 41,135,494	D75V	probably damaging	Het
Vmn1r30	A	G	6: 58,435,277	V190A	probably benign	Het
Vmn2r115	A	T	17: 23,359,508	I652F	probably benign	Het
Vmn2r26	A	T	6: 124,039,374	M266L	probably benign	Het
Wdr17	T	C	8: 54,690,022	I198V	probably benign	Het
Wdr27	G	A	17: 14,908,571	A540V	possibly damaging	Het
Zfp26	A	C	9: 20,438,151	Y372*	probably null	Het
Zfp286	A	G	11: 62,779,975	V424A	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
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
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'- TCTGAAAGTTGAGGGTCCAGG -3'
(R):5'- CCTCTGAGTGCAGGTTAAAATG -3'

Sequencing Primer
(F):5'- TCCAGGTGAGAATTCTCGGC -3'
(R):5'- TCCTAACCTAAGGCAGATTCTGGG -3'

Posted On

2022-04-18