Mutagenetix > Incidental Mutation

Incidental Mutation 'R3905:Abca17'

309163

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24296283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 821 (M821L)

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: M821L

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: M821L

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: M821L

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: M821L

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,268,230 (GRCm38)	I1964N	possibly damaging	Het
Abca12	A	G	1: 71,279,457 (GRCm38)	F1796L	probably benign	Het
Adamts3	C	A	5: 89,861,355 (GRCm38)	G150C	probably damaging	Het
Ap4b1	A	T	3: 103,818,893 (GRCm38)	I262F	possibly damaging	Het
Atp1a1	T	A	3: 101,590,612 (GRCm38)	E286D	probably benign	Het
Bard1	T	C	1: 71,067,180 (GRCm38)	I429M	possibly damaging	Het
Bcl7c	T	C	7: 127,666,983 (GRCm38)	R198G	possibly damaging	Het
Cacna1s	T	A	1: 136,084,269 (GRCm38)	M483K	probably damaging	Het
Ccdc159	T	A	9: 21,934,519 (GRCm38)		probably null	Het
Cct7	A	T	6: 85,466,708 (GRCm38)	I353F	possibly damaging	Het
Cfap57	A	G	4: 118,595,839 (GRCm38)	Y556H	probably damaging	Het
Fat1	G	C	8: 45,023,035 (GRCm38)	R1706T	probably benign	Het
Fn1	C	T	1: 71,607,913 (GRCm38)	G1482R	probably damaging	Het
Gcat	T	C	15: 79,043,331 (GRCm38)	L324P	possibly damaging	Het
Hspa1a	C	T	17: 34,971,727 (GRCm38)	V67M	probably damaging	Het
Il22	C	T	10: 118,205,624 (GRCm38)	R81*	probably null	Het
Impa1	T	C	3: 10,316,034 (GRCm38)	T263A	probably benign	Het
Kif13a	T	C	13: 46,802,690 (GRCm38)	Y609C	probably damaging	Het
Kmt2e	A	G	5: 23,501,626 (GRCm38)	N1396D	probably benign	Het
Lrfn1	G	A	7: 28,466,869 (GRCm38)	G563R	possibly damaging	Het
Mark1	A	C	1: 184,908,435 (GRCm38)		probably null	Het
Mum1	T	C	10: 80,238,316 (GRCm38)	V401A	probably damaging	Het
Mxd1	G	T	6: 86,650,960 (GRCm38)	Q199K	probably benign	Het
Myo3a	T	A	2: 22,558,215 (GRCm38)	Y1N	probably damaging	Het
Nek3	T	C	8: 22,133,091 (GRCm38)	E309G	probably benign	Het
Olfr63	T	C	17: 33,268,775 (GRCm38)	F17S	probably damaging	Het
Otoa	A	T	7: 121,125,565 (GRCm38)	Q489L	probably damaging	Het
Oxsr1	T	C	9: 119,247,112 (GRCm38)	E376G	probably benign	Het
Piezo1	C	T	8: 122,482,143 (GRCm38)	E2494K	probably damaging	Het
Pkd1l3	A	G	8: 109,646,879 (GRCm38)	H1349R	probably benign	Het
Psmd2	A	G	16: 20,655,642 (GRCm38)	D316G	probably benign	Het
Robo4	T	A	9: 37,403,505 (GRCm38)	C218*	probably null	Het
Rxfp2	A	T	5: 150,055,985 (GRCm38)		probably null	Het
Slc10a1	A	G	12: 80,967,667 (GRCm38)	I93T	probably damaging	Het
Tarbp1	C	T	8: 126,428,152 (GRCm38)	R1411Q	probably damaging	Het
Tbl3	C	T	17: 24,702,032 (GRCm38)	D563N	probably damaging	Het
Tec	A	G	5: 72,760,362 (GRCm38)	S505P	probably damaging	Het
Toporsl	A	T	4: 52,611,750 (GRCm38)	R548*	probably null	Het
Vmn1r39	G	A	6: 66,804,495 (GRCm38)	Q243*	probably null	Het
Vmn2r9	C	A	5: 108,847,919 (GRCm38)	A288S	probably benign	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
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
R7355:Abca17	UTSW	17	24,267,647 (GRCm38)	missense	probably benign	0.00
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'- ATATCCCATTAGATCAAAAGTACCATC -3'
(R):5'- GTGGTAAAGAATTCACCTTCTATCTT -3'

Sequencing Primer
(F):5'- GGATGATGTTCAAGATCCCTTCCAAC -3'
(R):5'- TCCAGAGGTCCTGAGTTCAAATC -3'

Posted On

2015-04-17