Mutagenetix > Incidental Mutations

Incidental Mutation 'R7355:Abca17'

570912

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24267647 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1469 (R1469W)

Ref Sequence

ENSEMBL: ENSMUSP00000046218 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039324
AA Change: R1469W

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: R1469W

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: R1469W

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: R1469W

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	G	T	5: 121,630,717	Y728*	probably null	Het
Adamts17	T	C	7: 67,075,304	V160A		Het
AI481877	T	C	4: 59,076,155	D596G	probably benign	Het
Astn1	A	T	1: 158,664,276		probably null	Het
Atp8a2	T	C	14: 60,045,004	K104E	possibly damaging	Het
Axl	T	C	7: 25,774,106	Y365C	probably benign	Het
Btbd16	A	T	7: 130,821,443	Y409F	probably benign	Het
Caln1	A	T	5: 130,414,891	T22S	probably benign	Het
Camk1	C	A	6: 113,338,346	G164C	probably damaging	Het
Cd96	T	C	16: 46,041,292	T512A	possibly damaging	Het
Ceacam5	A	G	7: 17,747,387	D353G	probably damaging	Het
Cep162	C	A	9: 87,253,955	E12*	probably null	Het
Cfh	A	T	1: 140,136,815	V365E	probably damaging	Het
Chd7	A	G	4: 8,752,196	H231R	unknown	Het
Cntnap3	T	C	13: 64,771,962	T694A	probably benign	Het
Colq	C	A	14: 31,545,109	G158V	probably damaging	Het
Ctif	G	A	18: 75,610,685	H139Y	probably damaging	Het
D630003M21Rik	A	T	2: 158,200,224	F934Y	probably damaging	Het
Dclre1a	T	A	19: 56,547,135	T6S	possibly damaging	Het
Dnmbp	T	C	19: 43,901,741	D529G	probably benign	Het
Fat2	T	A	11: 55,256,551	Q3955L	probably benign	Het
Gjd4	A	G	18: 9,280,860	S73P	probably damaging	Het
Gm14025	G	T	2: 129,037,229	Q926K	unknown	Het
Gm19410	C	A	8: 35,807,072	Q1460K	probably benign	Het
Golga5	A	T	12: 102,472,235	I70F	possibly damaging	Het
Gon4l	T	A	3: 88,863,520	I502N	probably damaging	Het
Gtf2ird2	C	G	5: 134,216,649	A583G	probably benign	Het
Hectd1	A	C	12: 51,791,298	W694G	possibly damaging	Het
Ifit1bl2	C	T	19: 34,619,661	G185D	probably damaging	Het
Igfbp6	G	A	15: 102,147,940	A145T	probably benign	Het
Junb	C	T	8: 84,978,384	A16T	probably benign	Het
Kcnh4	C	T	11: 100,752,443	V333I	possibly damaging	Het
Ly6c1	T	C	15: 75,047,407	T45A	possibly damaging	Het
Mon2	T	A	10: 123,009,516	Q1428L	probably benign	Het
Nfatc2ip	C	T	7: 126,387,611		probably null	Het
Olfml3	C	A	3: 103,736,079	G329W	probably damaging	Het
Olfr1012	C	T	2: 85,753,679	P106L	probably benign	Het
Olfr1118	T	C	2: 87,309,410	V207A	probably benign	Het
Olfr118	A	G	17: 37,672,410	Y129C	probably benign	Het
Olfr215	T	A	6: 116,582,955		probably benign	Het
Pcsk7	A	G	9: 45,909,374	M35V	probably benign	Het
Phf14	A	G	6: 12,081,007	N921S	probably benign	Het
Pla2g4e	G	A	2: 120,181,501	S396F	possibly damaging	Het
Ppp4r4	A	T	12: 103,604,582	K766*	probably null	Het
Pprc1	T	C	19: 46,065,346	V1105A	unknown	Het
Prdm9	T	G	17: 15,545,235	N428H	probably benign	Het
Prkcg	C	T	7: 3,323,509	T497I	possibly damaging	Het
Prkcz	A	G	4: 155,357,496	W60R	probably damaging	Het
Ptprn2	T	C	12: 116,858,951	F217L	probably benign	Het
Pum2	T	A	12: 8,713,906	Y283*	probably null	Het
Rest	A	G	5: 77,268,028	M30V	probably benign	Het
Rfxank	C	T	8: 70,135,307	R150H	probably damaging	Het
Ros1	T	A	10: 52,166,079	Q250L	probably damaging	Het
Sgk2	A	G	2: 163,013,067	D366G	probably benign	Het
Siglec1	A	T	2: 131,080,451	L568Q	probably benign	Het
Slain1	AT	ATT	14: 103,702,576		probably null	Het
Slc10a5	A	T	3: 10,334,315	Y428*	probably null	Het
Slc25a54	T	C	3: 109,102,769	W195R	probably damaging	Het
Slf1	A	G	13: 77,091,303	I414T	probably damaging	Het
Snx4	C	T	16: 33,266,866	P127L	probably damaging	Het
Spdl1	A	T	11: 34,823,364	L166H	not run	Het
Tapt1	C	T	5: 44,177,117	V511I	probably benign	Het
Tbata	A	G	10: 61,174,320		probably benign	Het
Tbx4	T	A	11: 85,912,009	V264E	probably damaging	Het
Tecta	A	T	9: 42,367,142	Y1023*	probably null	Het
Thop1	A	G	10: 81,075,631	D117G	probably damaging	Het
Trip12	A	G	1: 84,814,883	L13P	probably damaging	Het
Unc13b	T	A	4: 43,237,754	V637E	probably damaging	Het
Yipf3	T	A	17: 46,250,640	M168K	probably damaging	Het
Zcchc6	T	C	13: 59,821,802	N93S	probably benign	Het
Zfp119a	A	T	17: 55,866,287	C185*	probably null	Het
Zfyve21	A	T	12: 111,825,051	I157F	possibly damaging	Het
Zfyve26	A	T	12: 79,240,054	D2253E	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
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
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
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'- CCTGACAGGCTTTACTCTACAATCC -3'
(R):5'- AGCAAAACTGAAGCTCCAGG -3'

Sequencing Primer
(F):5'- ACTCTACAATCCAGTTCTGAGAAG -3'
(R):5'- ACTGAAGCTCCAGGCCCAG -3'

Posted On

2019-09-13