Mutagenetix > Incidental Mutation

Incidental Mutation 'R2849:Abca17'

252027

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

040442-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 24289507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 1018 (T1018R)

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: T1018R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: T1018R

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: T1018R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: T1018R

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,042,105	D1231G	probably damaging	Het
Adcy7	A	G	8: 88,327,393	I1017V	probably benign	Het
Agpat2	A	G	2: 26,597,239	I109T	probably damaging	Het
Aldh9a1	G	A	1: 167,352,628	R97H	probably damaging	Het
Als2	G	A	1: 59,206,538	T593M	probably damaging	Het
Ap3d1	G	C	10: 80,741,908	H28Q	possibly damaging	Het
Atxn1	A	T	13: 45,566,699	D573E	probably damaging	Het
BC100530	T	A	16: 36,367,452	Q17L	probably damaging	Het
Begain	T	A	12: 109,033,118	M576L	probably benign	Het
Bod1l	T	C	5: 41,838,076	N109S	probably damaging	Het
Boll	A	G	1: 55,346,373	M131T	possibly damaging	Het
Celf2	T	C	2: 6,604,125	R282G	probably damaging	Het
Cers2	T	C	3: 95,322,459	F330L	probably benign	Het
Chst13	T	C	6: 90,309,158	D274G	probably benign	Het
Dclk2	A	G	3: 86,793,223	V649A	probably damaging	Het
Deaf1	T	C	7: 141,314,454	*54W	probably null	Het
Fbf1	C	T	11: 116,157,688		probably null	Het
Fbxo32	C	T	15: 58,207,972	S71N	probably benign	Het
Fbxo42	T	A	4: 141,200,510	N700K	probably damaging	Het
Fis1	T	C	5: 136,963,117	I55T	possibly damaging	Het
Fyco1	A	T	9: 123,834,826	L121*	probably null	Het
Gm2381	G	A	7: 42,820,407	P98S	probably damaging	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Gtf2ird1	G	A	5: 134,359,007	T946I	probably damaging	Het
Hmcn1	G	T	1: 150,563,599	Y5494*	probably null	Het
Josd2	A	G	7: 44,468,973		probably null	Het
Lfng	T	A	5: 140,611,867	D149E	probably damaging	Het
Lrp1	C	T	10: 127,542,296	A4052T	probably damaging	Het
Lrrtm3	T	C	10: 64,089,031	N119S	probably damaging	Het
Lypd6	C	T	2: 50,165,652	P38L	probably damaging	Het
Msl3l2	T	C	10: 56,115,442	C88R	probably benign	Het
Nsd1	A	G	13: 55,213,692	T158A	probably damaging	Het
Nudt22	A	T	19: 6,993,484	S239R	probably benign	Het
Odf3	A	G	7: 140,849,269	T156A	probably benign	Het
Olfr1288	T	C	2: 111,479,354	M190T	probably benign	Het
Olfr584	A	T	7: 103,086,112	D193V	probably damaging	Het
Osbpl8	T	A	10: 111,269,436	S251T	probably benign	Het
Otop3	T	C	11: 115,344,558	F339L	probably damaging	Het
Pcdhga10	T	A	18: 37,748,200	V338E	possibly damaging	Het
Pcnx2	A	G	8: 125,760,927	F1779S	probably damaging	Het
Plxna4	T	C	6: 32,185,532	K1349E	probably damaging	Het
Poteg	A	T	8: 27,481,676	N406I	probably benign	Het
Ppp4r4	T	C	12: 103,606,933	V697A	probably benign	Het
Ptpra	C	A	2: 130,544,999	H603Q	probably benign	Het
Rnf10	T	C	5: 115,249,112	D439G	probably benign	Het
Rnf43	T	A	11: 87,732,267	N731K	probably benign	Het
Slc2a4	T	A	11: 69,946,171	N116Y	probably damaging	Het
Slc6a15	C	A	10: 103,404,691	H392N	probably benign	Het
Slco6d1	C	T	1: 98,466,716	T375I	probably benign	Het
Smpd4	A	G	16: 17,642,212	D436G	probably damaging	Het
Spata22	G	A	11: 73,353,745	W311*	probably null	Het
Syt3	G	A	7: 44,393,442	V383I	probably benign	Het
Tle6	T	A	10: 81,594,401	I306F	probably damaging	Het
Tox3	G	A	8: 90,248,390	Q538*	probably null	Het
Trim24	T	A	6: 37,956,453	S656T	probably damaging	Het
Trnau1ap	C	A	4: 132,321,734	V119F	possibly damaging	Het
Vmn1r181	G	T	7: 23,984,518	S136I	possibly damaging	Het
Vmn1r82	T	C	7: 12,305,406	V202A	probably damaging	Het
Zfp607b	G	A	7: 27,702,394	V92I	probably benign	Het
Zfp964	G	C	8: 69,663,854	C368S	unknown	Het
Zw10	A	G	9: 49,057,641		probably null	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
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'- ACAGAAAGCAACTGTGACTAGC -3'
(R):5'- AGTGTACTGTGTGCCACTGG -3'

Sequencing Primer
(F):5'- GAAAGGCAGTCTCACGCACTG -3'
(R):5'- ACTGGGCCTGGTGCGATG -3'

Posted On

2014-12-04