Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Abca17'

188312

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

039714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24335620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 120 (I120S)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably benign
Transcript: ENSMUST00000039324
AA Change: I120S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: I120S

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: I120S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: I120S

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	C	A	6: 40,929,519		probably benign	Het
4930402H24Rik	A	G	2: 130,814,273	V105A	probably damaging	Het
Abcb5	A	C	12: 118,965,329		probably benign	Het
Abcc4	T	A	14: 118,594,894	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568	Y270F	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ankib1	A	G	5: 3,706,301	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,874,880		probably null	Het
Asb17	C	T	3: 153,844,367	S12F	probably damaging	Het
Atad2b	G	A	12: 4,965,899	V542I	possibly damaging	Het
Atxn7	T	C	14: 14,096,239	F515L	probably damaging	Het
Bicc1	A	G	10: 70,943,518	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,908,642	R351H	probably damaging	Het
C4b	A	G	17: 34,743,650	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802		probably null	Het
Capza1	G	T	3: 104,864,353	S9*	probably null	Het
Ccdc129	G	T	6: 55,968,514	C740F	probably benign	Het
Ccl11	C	T	11: 82,058,040	P25L	probably damaging	Het
Cdyl	A	T	13: 35,856,889	K306N	probably damaging	Het
Cnga3	T	C	1: 37,261,498	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,486,659	K983E	unknown	Het
Cp	A	C	3: 19,972,717	K436N	probably damaging	Het
Csmd1	T	A	8: 15,918,252	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,183,366	N143I	probably damaging	Het
Dmd	T	A	X: 84,974,762	I3067N	probably benign	Het
Dnah11	T	G	12: 117,933,845	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,467,532	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,665,662		probably null	Het
Efemp1	G	A	11: 28,916,942	E325K	probably benign	Het
Enox1	A	G	14: 77,577,656	T85A	probably benign	Het
Faim2	C	A	15: 99,520,336	V123F	possibly damaging	Het
Fgfr2	T	C	7: 130,228,620		probably null	Het
Fign	T	C	2: 63,980,374	E184G	probably damaging	Het
Fnd3c2	T	C	X: 106,237,699	T799A	probably benign	Het
Frem2	T	C	3: 53,519,938	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,986,345	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,416,983	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867	V139M	probably damaging	Het
Gpr83	G	T	9: 14,866,849	V172F	probably damaging	Het
Jmjd4	A	G	11: 59,453,612	Y179C	probably damaging	Het
Kcnq3	A	G	15: 66,031,432	L143P	probably damaging	Het
Klhl41	T	C	2: 69,670,939	V248A	probably benign	Het
Lama1	T	C	17: 67,810,155	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,483,686		probably null	Het
Lclat1	G	A	17: 73,196,720	G162R	probably damaging	Het
Map6	T	C	7: 99,268,098	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050	D107V	probably damaging	Het
Metap1d	T	A	2: 71,524,777	V304D	possibly damaging	Het
Naca	A	G	10: 128,043,526		probably benign	Het
Napg	T	C	18: 62,984,072		probably null	Het
Nbeal1	T	A	1: 60,260,334	F7L	probably benign	Het
Ndst2	T	C	14: 20,724,514	T825A	probably benign	Het
Nsun2	T	C	13: 69,627,103	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,436,210	I87F	probably damaging	Het
Nxf3	T	C	X: 136,075,521	D407G	probably damaging	Het
Olfr568	T	A	7: 102,877,663	V181E	probably damaging	Het
Olfr891	A	T	9: 38,180,637	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,336,213		probably null	Het
P2rx3	T	C	2: 85,022,467	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,381,881	E877*	probably null	Het
Pcdhb9	A	T	18: 37,401,629	K225N	probably damaging	Het
Plch1	A	G	3: 63,740,694	S419P	probably damaging	Het
Prex2	T	G	1: 11,285,089	I1538S	possibly damaging	Het
Rasl10a	A	G	11: 5,059,815	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,732,315	T754A	probably benign	Het
Rictor	T	C	15: 6,756,471	V156A	probably benign	Het
Ryr1	A	T	7: 29,116,154	Y104N	probably damaging	Het
Sctr	G	T	1: 120,036,439		probably null	Het
Sptbn2	T	C	19: 4,750,497	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,324,509	R384W	probably damaging	Het
Srcin1	C	A	11: 97,518,644	R1163L	probably damaging	Het
Srp72	A	G	5: 76,980,307	Y125C	probably damaging	Het
Srrm2	T	C	17: 23,818,986	S1535P	probably benign	Het
Sumf2	A	G	5: 129,854,716	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,215,556	I77F	probably benign	Het
Tcerg1	T	C	18: 42,524,349	S299P	unknown	Het
Tcp1	T	A	17: 12,920,423	N212K	probably benign	Het
Ttc7	G	T	17: 87,361,901	G659C	probably damaging	Het
Ttn	A	T	2: 76,861,559		probably null	Het
Ubtf	A	T	11: 102,308,978	D440E	probably benign	Het
Usp30	A	G	5: 114,121,146	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Vmn2r58	G	A	7: 41,864,056	H388Y	probably benign	Het
Wdr60	A	G	12: 116,225,970	S640P	probably damaging	Het
Zbtb49	T	C	5: 38,213,694	D281G	probably damaging	Het
Zfp248	A	G	6: 118,429,804	S174P	probably benign	Het
Zswim9	T	C	7: 13,277,411	T4A	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
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
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'- CCTCCTCGAAAAGACAACGGAGTG -3'
(R):5'- TGGGAGTGCAGTCTTCCCAGTATAAG -3'

Sequencing Primer
(F):5'- TGAGTTGCAAAACGTGAACCTG -3'
(R):5'- tctaccagcctctgcctc -3'

Posted On

2014-05-09