Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Abca17'

717393

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 #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24265506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1594 (Y1594C)

Ref Sequence

ENSEMBL: ENSMUSP00000046218 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably damaging
Transcript: ENSMUST00000039324
AA Change: Y1594C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: Y1594C

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 damaging
Transcript: ENSMUST00000121226
AA Change: Y1594C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: Y1594C

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: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Aadacl3	A	G	4: 144,456,419	Y160H	probably damaging	Het
Abca8a	T	C	11: 110,086,548	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,163,463	I138V	probably benign	Het
Adcy8	G	A	15: 64,920,196	L304F	possibly damaging	Het
Alb	T	C	5: 90,469,503	F354L	probably damaging	Het
Ampd3	T	A	7: 110,809,846	S688R	probably damaging	Het
Areg	T	G	5: 91,146,694	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,733,177	S1243G	probably benign	Het
B3glct	A	G	5: 149,750,429		probably null	Het
BC030867	T	C	11: 102,259,341	S410P	probably benign	Het
Casp7	T	A	19: 56,436,335	L162Q	probably damaging	Het
Cdh22	G	T	2: 165,112,570	T677N	probably damaging	Het
Cdh7	A	G	1: 110,048,905	N100S	probably benign	Het
Cmtm5	T	A	14: 54,936,748	S31T	probably benign	Het
Col6a3	T	A	1: 90,785,928	R2295*	probably null	Het
Cpa6	T	C	1: 10,409,321	N229S	possibly damaging	Het
Dagla	G	T	19: 10,254,854	Y489*	probably null	Het
Dnah7b	A	G	1: 46,214,404	K1823R	probably benign	Het
Dnah9	T	C	11: 65,848,373	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,525,221	E296D	probably damaging	Het
Ednra	A	T	8: 77,720,305	L48Q	probably benign	Het
Esco2	T	C	14: 65,831,303	D186G	probably benign	Het
Foxj2	A	G	6: 122,842,833	D560G	probably damaging	Het
Frmd3	G	A	4: 74,119,818	M105I	probably benign	Het
Gm21671	AACT	A	5: 25,950,851		probably benign	Het
Gria4	A	T	9: 4,503,560		probably null	Het
Ifi204	T	C	1: 173,755,971	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,829,439	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,879,958	T1588A		Het
Myo9a	A	G	9: 59,827,183	S683G	probably damaging	Het
Ncam2	T	C	16: 81,512,999	I459T	probably benign	Het
Nedd4l	T	C	18: 65,161,652		probably null	Het
Nfic	T	C	10: 81,420,668	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,589,969	T920A	probably damaging	Het
Obsl1	C	T	1: 75,490,840	C1430Y	probably damaging	Het
Olfr1048	A	G	2: 86,236,494	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,498,506	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,265,463	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,473,837	R41*	probably null	Het
Pde1b	A	T	15: 103,527,062	D448V	probably benign	Het
Pex7	G	A	10: 19,887,113	R227*	probably null	Het
Pkp1	T	A	1: 135,890,082	Y105F	probably benign	Het
Plbd1	T	C	6: 136,612,246	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,813,142	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,213,291	T792S	unknown	Het
Rasgrf1	A	T	9: 89,944,868	T177S	probably benign	Het
Rbm14	A	G	19: 4,803,467	S296P	probably benign	Het
Rfx8	T	C	1: 39,685,514	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,657,175	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,718,478	S296T	probably benign	Het
Srsf6	A	G	2: 162,932,089	E68G	probably benign	Het
Svs1	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,988,018		probably benign	Het
Syt13	A	T	2: 92,951,404	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,740,241	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,157,855	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,366,641	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,050,341	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,457,610	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,813,485	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,254,385	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,670,885	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,743,077	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,476,346	Q234L	probably benign	Het
Zfp850	T	C	7: 27,989,850	K311R	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
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
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
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'- TGCTGCCTGTACAAACACAG -3'
(R):5'- TGTCATTCAGGGTGGGCATC -3'

Sequencing Primer
(F):5'- CAAACACAGAGACTGTTTCTGAG -3'
(R):5'- AAGCCTTATGTACCAGGC -3'

Posted On

2022-07-18