Mutagenetix > Incidental Mutation

Incidental Mutation 'R8811:Abca17'

672441

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

068646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24317238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 485 (K485T)

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: K485T

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: K485T

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: K485T

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: K485T

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 86,553,394	L337M	probably damaging	Het
Adcy4	T	C	14: 55,772,764	D687G	probably benign	Het
Aldoc	T	A	11: 78,324,784	I98N	probably damaging	Het
Aoah	T	A	13: 20,999,951	V395D	probably damaging	Het
Arap1	C	T	7: 101,387,196	R397W	probably damaging	Het
Arl16	A	T	11: 120,466,700	M63K	probably damaging	Het
Atf7	T	C	15: 102,593,709	D4G	probably damaging	Het
Atp6v0d2	A	T	4: 19,922,397	V34D	probably benign	Het
Camk1g	C	G	1: 193,362,100	G2A	probably damaging	Het
Cenpe	A	G	3: 135,223,240	T302A	probably damaging	Het
Cps1	T	C	1: 67,214,087	V1246A	probably benign	Het
Csmd3	T	C	15: 47,696,743	D1397G		Het
Ddx39b	T	A	17: 35,244,459	S115T	probably benign	Het
Dnaja3	C	A	16: 4,696,519	T305K	probably benign	Het
Dusp7	C	G	9: 106,371,042	H290D	probably benign	Het
Emilin2	T	A	17: 71,275,287	D148V	possibly damaging	Het
Erbin	C	T	13: 103,886,316	R5Q	probably damaging	Het
Fam26d	T	A	10: 34,041,665	K263N	probably benign	Het
Fam3b	T	C	16: 97,512,515		probably benign	Het
Foxn3	T	C	12: 99,196,692	S317G	probably benign	Het
Gipc1	T	A	8: 83,662,290	M177K	possibly damaging	Het
Grpel2	A	C	18: 61,718,752		probably benign	Het
Htr1a	G	C	13: 105,444,593	A114P	probably damaging	Het
Iqch	A	T	9: 63,544,913	M210K	possibly damaging	Het
Kdelr3	T	C	15: 79,525,851	I179T	possibly damaging	Het
Lat2	C	T	5: 134,606,699		probably benign	Het
Mcrip1	A	G	11: 120,544,779	V10A	probably damaging	Het
Mib1	C	T	18: 10,755,643	L350F	probably benign	Het
Nhlrc2	T	A	19: 56,594,912	V605E	probably benign	Het
Nup133	AAGAGA	AAGA	8: 123,911,888	900	probably null	Het
Nutm2	A	T	13: 50,469,953	I229F	probably benign	Het
Olfr308	G	A	7: 86,321,781	T57M	probably damaging	Het
Phkb	T	C	8: 86,018,527	V611A	possibly damaging	Het
Polg2	A	T	11: 106,779,382	Y21N	probably benign	Het
Prss28	T	A	17: 25,309,653	I23N	probably benign	Het
Ptprz1	G	A	6: 23,030,662	V1856I	probably benign	Het
Slc22a22	A	T	15: 57,244,841	I526N	probably damaging	Het
Slc24a4	T	C	12: 102,213,874	F68S	probably damaging	Het
Slc37a3	A	G	6: 39,345,340	S377P	probably damaging	Het
Smoc2	T	C	17: 14,325,634	S62P	probably damaging	Het
Sox4	A	G	13: 28,952,928	S32P	probably damaging	Het
Stxbp2	A	T	8: 3,639,541	Q426L		Het
Synrg	T	G	11: 84,019,584	S937A	probably benign	Het
Tbr1	C	A	2: 61,811,852	T487K	possibly damaging	Het
Tll2	T	C	19: 41,206,573	T25A	probably benign	Het
Trim31	T	C	17: 36,899,983	F169S	probably benign	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Tspear	T	C	10: 77,829,629	F83S	probably benign	Het
Ubr5	C	A	15: 38,040,879	A254S		Het
Ubtfl1	A	G	9: 18,410,163	E329G	probably benign	Het
Vmn2r45	A	G	7: 8,471,882	W716R	probably damaging	Het
Vmn2r67	T	C	7: 85,150,687	M448V	probably damaging	Het
Wwc2	T	G	8: 47,883,544	I228L	possibly damaging	Het
Zbtb20	T	C	16: 43,610,494	V383A	probably benign	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
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'- AAGCTTAGAGGGTTGTTTCTCAAGTC -3'
(R):5'- GGCCTGCCAGGGATTATAGATG -3'

Sequencing Primer
(F):5'- TCCTGTAGAGGAAATTAGAAAGCC -3'
(R):5'- CCTGCCAGGGATTATAGATGATCTAG -3'

Posted On

2021-04-30