Mutagenetix > Incidental Mutation

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

045441-MU

Accession Numbers

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 (GRCm38)

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]

AlphaFold

E9PX95

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 (GRCm38)	Y728*	probably null	Het
Adamts17	T	C	7: 67,075,304 (GRCm38)	V160A		Het
AI481877	T	C	4: 59,076,155 (GRCm38)	D596G	probably benign	Het
Astn1	A	T	1: 158,664,276 (GRCm38)		probably null	Het
Atp8a2	T	C	14: 60,045,004 (GRCm38)	K104E	possibly damaging	Het
Axl	T	C	7: 25,774,106 (GRCm38)	Y365C	probably benign	Het
Btbd16	A	T	7: 130,821,443 (GRCm38)	Y409F	probably benign	Het
Caln1	A	T	5: 130,414,891 (GRCm38)	T22S	probably benign	Het
Camk1	C	A	6: 113,338,346 (GRCm38)	G164C	probably damaging	Het
Cd96	T	C	16: 46,041,292 (GRCm38)	T512A	possibly damaging	Het
Ceacam5	A	G	7: 17,747,387 (GRCm38)	D353G	probably damaging	Het
Cep162	C	A	9: 87,253,955 (GRCm38)	E12*	probably null	Het
Cfh	A	T	1: 140,136,815 (GRCm38)	V365E	probably damaging	Het
Chd7	A	G	4: 8,752,196 (GRCm38)	H231R	unknown	Het
Cntnap3	T	C	13: 64,771,962 (GRCm38)	T694A	probably benign	Het
Colq	C	A	14: 31,545,109 (GRCm38)	G158V	probably damaging	Het
Ctif	G	A	18: 75,610,685 (GRCm38)	H139Y	probably damaging	Het
D630003M21Rik	A	T	2: 158,200,224 (GRCm38)	F934Y	probably damaging	Het
Dclre1a	T	A	19: 56,547,135 (GRCm38)	T6S	possibly damaging	Het
Dnmbp	T	C	19: 43,901,741 (GRCm38)	D529G	probably benign	Het
Fat2	T	A	11: 55,256,551 (GRCm38)	Q3955L	probably benign	Het
Gjd4	A	G	18: 9,280,860 (GRCm38)	S73P	probably damaging	Het
Gm14025	G	T	2: 129,037,229 (GRCm38)	Q926K	unknown	Het
Gm19410	C	A	8: 35,807,072 (GRCm38)	Q1460K	probably benign	Het
Golga5	A	T	12: 102,472,235 (GRCm38)	I70F	possibly damaging	Het
Gon4l	T	A	3: 88,863,520 (GRCm38)	I502N	probably damaging	Het
Gtf2ird2	C	G	5: 134,216,649 (GRCm38)	A583G	probably benign	Het
Hectd1	A	C	12: 51,791,298 (GRCm38)	W694G	possibly damaging	Het
Ifit1bl2	C	T	19: 34,619,661 (GRCm38)	G185D	probably damaging	Het
Igfbp6	G	A	15: 102,147,940 (GRCm38)	A145T	probably benign	Het
Junb	C	T	8: 84,978,384 (GRCm38)	A16T	probably benign	Het
Kcnh4	C	T	11: 100,752,443 (GRCm38)	V333I	possibly damaging	Het
Ly6c1	T	C	15: 75,047,407 (GRCm38)	T45A	possibly damaging	Het
Mon2	T	A	10: 123,009,516 (GRCm38)	Q1428L	probably benign	Het
Nfatc2ip	C	T	7: 126,387,611 (GRCm38)		probably null	Het
Olfml3	C	A	3: 103,736,079 (GRCm38)	G329W	probably damaging	Het
Olfr1012	C	T	2: 85,753,679 (GRCm38)	P106L	probably benign	Het
Olfr1118	T	C	2: 87,309,410 (GRCm38)	V207A	probably benign	Het
Olfr118	A	G	17: 37,672,410 (GRCm38)	Y129C	probably benign	Het
Olfr215	T	A	6: 116,582,955 (GRCm38)		probably benign	Het
Pcsk7	A	G	9: 45,909,374 (GRCm38)	M35V	probably benign	Het
Phf14	A	G	6: 12,081,007 (GRCm38)	N921S	probably benign	Het
Pla2g4e	G	A	2: 120,181,501 (GRCm38)	S396F	possibly damaging	Het
Ppp4r4	A	T	12: 103,604,582 (GRCm38)	K766*	probably null	Het
Pprc1	T	C	19: 46,065,346 (GRCm38)	V1105A	unknown	Het
Prdm9	T	G	17: 15,545,235 (GRCm38)	N428H	probably benign	Het
Prkcg	C	T	7: 3,323,509 (GRCm38)	T497I	possibly damaging	Het
Prkcz	A	G	4: 155,357,496 (GRCm38)	W60R	probably damaging	Het
Ptprn2	T	C	12: 116,858,951 (GRCm38)	F217L	probably benign	Het
Pum2	T	A	12: 8,713,906 (GRCm38)	Y283*	probably null	Het
Rest	A	G	5: 77,268,028 (GRCm38)	M30V	probably benign	Het
Rfxank	C	T	8: 70,135,307 (GRCm38)	R150H	probably damaging	Het
Ros1	T	A	10: 52,166,079 (GRCm38)	Q250L	probably damaging	Het
Sgk2	A	G	2: 163,013,067 (GRCm38)	D366G	probably benign	Het
Siglec1	A	T	2: 131,080,451 (GRCm38)	L568Q	probably benign	Het
Slain1	AT	ATT	14: 103,702,576 (GRCm38)		probably null	Het
Slc10a5	A	T	3: 10,334,315 (GRCm38)	Y428*	probably null	Het
Slc25a54	T	C	3: 109,102,769 (GRCm38)	W195R	probably damaging	Het
Slf1	A	G	13: 77,091,303 (GRCm38)	I414T	probably damaging	Het
Snx4	C	T	16: 33,266,866 (GRCm38)	P127L	probably damaging	Het
Spdl1	A	T	11: 34,823,364 (GRCm38)	L166H	not run	Het
Tapt1	C	T	5: 44,177,117 (GRCm38)	V511I	probably benign	Het
Tbata	A	G	10: 61,174,320 (GRCm38)		probably benign	Het
Tbx4	T	A	11: 85,912,009 (GRCm38)	V264E	probably damaging	Het
Tecta	A	T	9: 42,367,142 (GRCm38)	Y1023*	probably null	Het
Thop1	A	G	10: 81,075,631 (GRCm38)	D117G	probably damaging	Het
Trip12	A	G	1: 84,814,883 (GRCm38)	L13P	probably damaging	Het
Unc13b	T	A	4: 43,237,754 (GRCm38)	V637E	probably damaging	Het
Yipf3	T	A	17: 46,250,640 (GRCm38)	M168K	probably damaging	Het
Zcchc6	T	C	13: 59,821,802 (GRCm38)	N93S	probably benign	Het
Zfp119a	A	T	17: 55,866,287 (GRCm38)	C185*	probably null	Het
Zfyve21	A	T	12: 111,825,051 (GRCm38)	I157F	possibly damaging	Het
Zfyve26	A	T	12: 79,240,054 (GRCm38)	D2253E	probably damaging	Het

Other mutations in Abca17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca17	APN	17	24,295,191 (GRCm38)	missense	probably benign	0.14
IGL00585:Abca17	APN	17	24,300,320 (GRCm38)	missense	probably damaging	0.99
IGL00941:Abca17	APN	17	24,317,130 (GRCm38)	missense	probably damaging	1.00
IGL01987:Abca17	APN	17	24,346,228 (GRCm38)	missense	probably benign	0.00
IGL01988:Abca17	APN	17	24,334,255 (GRCm38)	missense	probably damaging	0.99
IGL02223:Abca17	APN	17	24,287,935 (GRCm38)	nonsense	probably null
IGL02368:Abca17	APN	17	24,287,793 (GRCm38)	missense	probably benign	0.01
IGL02405:Abca17	APN	17	24,279,062 (GRCm38)	missense	possibly damaging	0.80
IGL02431:Abca17	APN	17	24,298,984 (GRCm38)	missense	probably benign	0.05
IGL02607:Abca17	APN	17	24,327,705 (GRCm38)	nonsense	probably null
IGL02706:Abca17	APN	17	24,298,992 (GRCm38)	missense	probably benign	0.00
IGL02729:Abca17	APN	17	24,280,481 (GRCm38)	missense	probably benign	0.06
IGL02818:Abca17	APN	17	24,300,352 (GRCm38)	missense	probably benign	0.02
IGL02891:Abca17	APN	17	24,281,366 (GRCm38)	missense	probably damaging	0.99
IGL03236:Abca17	APN	17	24,326,476 (GRCm38)	splice site	probably benign
IGL03299:Abca17	APN	17	24,265,591 (GRCm38)	missense	probably damaging	1.00
basin	UTSW	17	24,318,185 (GRCm38)	missense	probably benign	0.01
Bowl	UTSW	17	24,317,238 (GRCm38)	missense	probably benign	0.09
R0018:Abca17	UTSW	17	24,313,188 (GRCm38)	splice site	probably null
R0467:Abca17	UTSW	17	24,313,177 (GRCm38)	splice site	probably benign
R0671:Abca17	UTSW	17	24,281,249 (GRCm38)	missense	probably benign	0.00
R1175:Abca17	UTSW	17	24,289,351 (GRCm38)	missense	possibly damaging	0.91
R1397:Abca17	UTSW	17	24,285,759 (GRCm38)	missense	probably benign	0.18
R1398:Abca17	UTSW	17	24,328,537 (GRCm38)	missense	probably damaging	0.96
R1678:Abca17	UTSW	17	24,335,620 (GRCm38)	missense	probably benign	0.05
R1696:Abca17	UTSW	17	24,267,658 (GRCm38)	missense	possibly damaging	0.90
R1781:Abca17	UTSW	17	24,267,557 (GRCm38)	missense	possibly damaging	0.95
R1845:Abca17	UTSW	17	24,267,716 (GRCm38)	missense	probably damaging	1.00
R1970:Abca17	UTSW	17	24,307,575 (GRCm38)	missense	probably benign	0.00
R1997:Abca17	UTSW	17	24,285,726 (GRCm38)	missense	probably benign	0.02
R2141:Abca17	UTSW	17	24,334,266 (GRCm38)	missense	probably benign	0.00
R2199:Abca17	UTSW	17	24,335,624 (GRCm38)	missense	probably benign	0.19
R2394:Abca17	UTSW	17	24,281,216 (GRCm38)	splice site	probably null
R2442:Abca17	UTSW	17	24,328,632 (GRCm38)	missense	probably benign	0.02
R2509:Abca17	UTSW	17	24,289,613 (GRCm38)	splice site	probably benign
R2848:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R2849:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R2859:Abca17	UTSW	17	24,281,314 (GRCm38)	missense	possibly damaging	0.46
R2879:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R2935:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R3153:Abca17	UTSW	17	24,328,746 (GRCm38)	missense	probably damaging	1.00
R3154:Abca17	UTSW	17	24,328,746 (GRCm38)	missense	probably damaging	1.00
R3434:Abca17	UTSW	17	24,289,537 (GRCm38)	missense	probably damaging	1.00
R3695:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R3905:Abca17	UTSW	17	24,296,283 (GRCm38)	missense	probably benign	0.13
R4282:Abca17	UTSW	17	24,299,060 (GRCm38)	missense	possibly damaging	0.49
R4334:Abca17	UTSW	17	24,318,268 (GRCm38)	missense	probably damaging	1.00
R4350:Abca17	UTSW	17	24,279,046 (GRCm38)	critical splice donor site	probably null
R4548:Abca17	UTSW	17	24,334,271 (GRCm38)	missense	possibly damaging	0.82
R4626:Abca17	UTSW	17	24,321,084 (GRCm38)	missense	probably damaging	1.00
R4722:Abca17	UTSW	17	24,265,429 (GRCm38)	missense	probably damaging	1.00
R4745:Abca17	UTSW	17	24,307,453 (GRCm38)	missense	probably damaging	1.00
R4818:Abca17	UTSW	17	24,317,161 (GRCm38)	missense	probably damaging	0.98
R5279:Abca17	UTSW	17	24,289,414 (GRCm38)	missense	probably damaging	1.00
R5310:Abca17	UTSW	17	24,281,230 (GRCm38)	missense	probably benign	0.00
R5320:Abca17	UTSW	17	24,307,567 (GRCm38)	missense	probably damaging	1.00
R5435:Abca17	UTSW	17	24,267,614 (GRCm38)	missense	possibly damaging	0.90
R5622:Abca17	UTSW	17	24,327,668 (GRCm38)	missense	probably benign	0.14
R5776:Abca17	UTSW	17	24,295,158 (GRCm38)	missense	probably benign	0.09
R5928:Abca17	UTSW	17	24,318,185 (GRCm38)	missense	probably benign	0.01
R6013:Abca17	UTSW	17	24,287,846 (GRCm38)	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24,281,245 (GRCm38)	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24,281,245 (GRCm38)	missense	possibly damaging	0.79
R6052:Abca17	UTSW	17	24,318,191 (GRCm38)	missense	probably benign	0.00
R6063:Abca17	UTSW	17	24,264,344 (GRCm38)	missense	unknown
R6404:Abca17	UTSW	17	24,265,918 (GRCm38)	missense	probably benign	0.13
R6746:Abca17	UTSW	17	24,346,221 (GRCm38)	nonsense	probably null
R6819:Abca17	UTSW	17	24,287,793 (GRCm38)	missense	probably benign	0.01
R6828:Abca17	UTSW	17	24,326,415 (GRCm38)	missense	possibly damaging	0.91
R7043:Abca17	UTSW	17	24,265,500 (GRCm38)	missense	probably damaging	1.00
R7065:Abca17	UTSW	17	24,327,751 (GRCm38)	missense	probably damaging	1.00
R7123:Abca17	UTSW	17	24,265,975 (GRCm38)	missense	probably damaging	1.00
R7157:Abca17	UTSW	17	24,335,590 (GRCm38)	missense	possibly damaging	0.46
R7188:Abca17	UTSW	17	24,335,626 (GRCm38)	missense	possibly damaging	0.89
R7294:Abca17	UTSW	17	24,321,009 (GRCm38)	missense	not run
R7352:Abca17	UTSW	17	24,289,054 (GRCm38)	nonsense	probably null
R7358:Abca17	UTSW	17	24,291,555 (GRCm38)	missense	probably benign	0.00
R7411:Abca17	UTSW	17	24,328,569 (GRCm38)	missense	possibly damaging	0.52
R7915:Abca17	UTSW	17	24,265,533 (GRCm38)	missense	probably damaging	1.00
R8039:Abca17	UTSW	17	24,328,725 (GRCm38)	missense	probably damaging	1.00
R8095:Abca17	UTSW	17	24,317,222 (GRCm38)	missense	possibly damaging	0.77
R8308:Abca17	UTSW	17	24,267,683 (GRCm38)	missense	probably damaging	1.00
R8517:Abca17	UTSW	17	24,317,233 (GRCm38)	missense	probably benign	0.00
R8811:Abca17	UTSW	17	24,317,238 (GRCm38)	missense	probably benign	0.09
R8819:Abca17	UTSW	17	24,328,602 (GRCm38)	missense	probably damaging	1.00
R8820:Abca17	UTSW	17	24,328,602 (GRCm38)	missense	probably damaging	1.00
R8953:Abca17	UTSW	17	24,299,041 (GRCm38)	missense	probably benign
R9095:Abca17	UTSW	17	24,281,396 (GRCm38)	missense	probably damaging	0.97
R9313:Abca17	UTSW	17	24,346,233 (GRCm38)	missense	probably benign	0.00
R9314:Abca17	UTSW	17	24,328,619 (GRCm38)	missense	possibly damaging	0.91
R9347:Abca17	UTSW	17	24,264,505 (GRCm38)	missense	probably benign
R9351:Abca17	UTSW	17	24,291,777 (GRCm38)	missense	probably benign	0.00
R9387:Abca17	UTSW	17	24,334,281 (GRCm38)	missense	probably benign	0.02
R9388:Abca17	UTSW	17	24,264,299 (GRCm38)	missense	unknown
R9440:Abca17	UTSW	17	24,280,478 (GRCm38)	missense	probably benign	0.02
R9498:Abca17	UTSW	17	24,265,506 (GRCm38)	missense	probably damaging	1.00
R9654:Abca17	UTSW	17	24,317,125 (GRCm38)	missense	probably benign	0.09
R9709:Abca17	UTSW	17	24,298,960 (GRCm38)	missense	probably benign
R9770:Abca17	UTSW	17	24,295,147 (GRCm38)	missense	probably benign	0.00
R9773:Abca17	UTSW	17	24,289,591 (GRCm38)	missense	probably damaging	1.00
RF024:Abca17	UTSW	17	24,287,732 (GRCm38)	frame shift	probably null
RF029:Abca17	UTSW	17	24,287,727 (GRCm38)	critical splice donor site	probably benign
RF032:Abca17	UTSW	17	24,287,727 (GRCm38)	frame shift	probably null
RF036:Abca17	UTSW	17	24,287,727 (GRCm38)	critical splice donor site	probably benign
X0017:Abca17	UTSW	17	24,317,163 (GRCm38)	missense	probably benign	0.26
X0065:Abca17	UTSW	17	24,334,284 (GRCm38)	missense	probably damaging	1.00
Z1088:Abca17	UTSW	17	24,279,107 (GRCm38)	missense	probably benign	0.03
Z1088:Abca17	UTSW	17	24,279,079 (GRCm38)	missense	probably damaging	0.96
Z1088:Abca17	UTSW	17	24,346,219 (GRCm38)	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