Mutagenetix > Incidental Mutation

Incidental Mutation 'R4745:Abca17'

356687

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

042028-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24307453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 619 (Y619C)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably damaging
Transcript: ENSMUST00000039324
AA Change: Y619C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: Y619C

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

noncoding transcript
Transcript: ENSMUST00000116896

Predicted Effect

probably damaging
Transcript: ENSMUST00000121226
AA Change: Y619C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: Y619C

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,402,179		probably null	Het
Agap3	A	C	5: 24,451,125		probably null	Het
Ankib1	A	T	5: 3,732,566	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,254,622	N301T	probably benign	Het
Arhgef4	A	G	1: 34,807,275	T379A	probably damaging	Het
Arid1a	A	G	4: 133,753,106	V169A	probably benign	Het
Armc4	G	A	18: 7,286,763	T156M	probably benign	Het
Bag2	T	C	1: 33,748,336		probably null	Het
Bmt2	A	C	6: 13,628,687	Y332*	probably null	Het
Bpifb1	A	T	2: 154,211,581	K248*	probably null	Het
Caap1	C	A	4: 94,556,514		probably null	Het
Calcr	T	A	6: 3,692,576	Y389F	probably damaging	Het
Capn1	C	T	19: 5,993,916	V562I	probably benign	Het
Ccr1	T	A	9: 123,963,948	T182S	probably benign	Het
Ceacam15	T	C	7: 16,673,334	D86G	probably benign	Het
Cldnd1	C	T	16: 58,729,643	T63I	probably benign	Het
Col12a1	A	T	9: 79,652,086		probably null	Het
Cystm1	A	G	18: 36,393,295		probably benign	Het
Ddx55	T	A	5: 124,566,965	Y428*	probably null	Het
Ensa	G	A	3: 95,631,434	G118D	probably benign	Het
Fam208b	G	A	13: 3,590,069	T356I	probably benign	Het
Folh1	A	T	7: 86,723,274		probably null	Het
Foxj2	C	A	6: 122,837,989	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,628	I417V	probably damaging	Het
Galnt7	T	C	8: 57,542,727		probably benign	Het
Gm11563	T	A	11: 99,658,420	*169C	probably null	Het
Hfm1	A	T	5: 106,901,843	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,564,610	S107P	probably damaging	Het
Itsn2	A	G	12: 4,661,944	D904G	probably damaging	Het
Kif1b	A	T	4: 149,237,882	L860*	probably null	Het
Krt79	T	C	15: 101,930,684	E450G	probably damaging	Het
Lama1	T	C	17: 67,738,780	S227P	probably damaging	Het
Lamp5	C	A	2: 136,060,866	H168Q	probably benign	Het
Lilra5	A	T	7: 4,242,077	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,549,944	C3521S	probably benign	Het
Mroh1	T	A	15: 76,408,530		probably null	Het
Nlrp4g	A	T	9: 124,349,515		noncoding transcript	Het
Nr2f6	A	T	8: 71,378,535	I70N	probably benign	Het
Nr4a2	T	A	2: 57,110,151	D311V	probably damaging	Het
Olfr1490	T	A	19: 13,655,386	M319K	probably benign	Het
Olfr248	T	C	1: 174,391,876	L269P	probably damaging	Het
Olfr659	T	A	7: 104,671,504	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,335,373	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,048,106		probably null	Het
Prc1	C	A	7: 80,313,163	H131Q	probably benign	Het
Ptprq	C	A	10: 107,524,253	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,125,703	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,790,816	Y246F	probably benign	Het
Rit1	T	C	3: 88,717,675		probably benign	Het
Sash1	A	G	10: 8,729,908	V906A	probably benign	Het
Scnn1b	T	C	7: 121,902,286	V108A	probably benign	Het
Sema4f	A	T	6: 82,918,284	I356N	probably damaging	Het
Shc4	A	T	2: 125,649,277	L447Q	probably damaging	Het
Slc24a1	T	C	9: 64,949,476	M50V	unknown	Het
Slc28a3	T	A	13: 58,574,263	D269V	possibly damaging	Het
Slc35e1	A	G	8: 72,492,322	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,294,808	H125Q	probably benign	Het
Snapc2	A	G	8: 4,254,578	T31A	probably damaging	Het
Sox5	G	C	6: 143,833,488	H606D	possibly damaging	Het
Spag6	A	G	2: 18,737,296	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,547,167	G156R	probably damaging	Het
Stx19	A	G	16: 62,822,420	T200A	probably benign	Het
Tas2r116	A	G	6: 132,855,705	T90A	probably benign	Het
Tbl3	A	G	17: 24,705,330		probably benign	Het
Tekt5	G	T	16: 10,395,194	P76T	probably damaging	Het
Tjp2	C	T	19: 24,096,666	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,323,571	L601P	probably damaging	Het
Trav16	T	A	14: 53,743,477	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,491,503	N72K	probably benign	Het
Trpm3	C	G	19: 22,715,295	T250S	possibly damaging	Het
Vps35	A	T	8: 85,261,262	D753E	probably benign	Het
Vstm2a	A	T	11: 16,263,061	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,906,886	M497I	probably benign	Het
Zfat	C	A	15: 68,180,374	V517L	probably benign	Het
Zfp169	C	A	13: 48,490,232	R473L	possibly damaging	Het
Zfp672	T	C	11: 58,329,498		probably benign	Het
Zranb1	T	C	7: 132,972,714	V420A	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
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
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'- ATGGATCCAGACCCACTTCC -3'
(R):5'- GCTCTTACAGCCTCTGACTG -3'

Sequencing Primer
(F):5'- CTCTCTCTTACCATTCCTAAGGATGG -3'
(R):5'- GCTCTTACAGCCTCTGACTGAAAATG -3'

Posted On

2015-11-11