Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Abca17'

486548

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

044207-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24281245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 1324 (F1324Y)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039324
AA Change: F1324Y

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: F1324Y

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

possibly damaging
Transcript: ENSMUST00000121226
AA Change: F1324Y

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: F1324Y

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

84% (62/74)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,638,394 (GRCm38)	G76W	probably damaging	Het
Abca8b	A	T	11: 109,971,860 (GRCm38)		probably null	Het
Abcc12	A	G	8: 86,517,404 (GRCm38)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,841,806 (GRCm38)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,304,513 (GRCm38)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,540,443 (GRCm38)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,832,213 (GRCm38)	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,737,224 (GRCm38)	Y392*	probably null	Het
Ash1l	T	C	3: 88,985,019 (GRCm38)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 105,692,563 (GRCm38)	W749L	probably benign	Het
Ccar1	A	G	10: 62,751,785 (GRCm38)	Y867H	unknown	Het
Cdh13	A	G	8: 118,505,698 (GRCm38)	D47G	probably benign	Het
Chst9	T	A	18: 15,452,853 (GRCm38)	T218S	probably benign	Het
Clec2i	G	A	6: 128,893,624 (GRCm38)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,759,746 (GRCm38)		probably benign	Het
Cpz	A	G	5: 35,517,585 (GRCm38)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,761,199 (GRCm38)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,533,968 (GRCm38)	M307V	probably benign	Het
Defa24	A	G	8: 21,734,549 (GRCm38)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,258,314 (GRCm38)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,238,974 (GRCm38)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,377,917 (GRCm38)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,263,353 (GRCm38)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,275,526 (GRCm38)	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,964,036 (GRCm38)	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,410,728 (GRCm38)	I394T	possibly damaging	Het
Glmn	T	A	5: 107,593,880 (GRCm38)		probably null	Het
Greb1l	T	C	18: 10,501,025 (GRCm38)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,608,450 (GRCm38)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,229,326 (GRCm38)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 88,711,534 (GRCm38)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940 (GRCm38)		probably benign	Het
Il5ra	G	A	6: 106,741,265 (GRCm38)	T76I	probably damaging	Het
Itga8	T	C	2: 12,191,714 (GRCm38)	T631A	probably benign	Het
Kcnh6	G	A	11: 106,019,152 (GRCm38)		probably null	Het
Krt26	C	T	11: 99,333,589 (GRCm38)	E368K	probably benign	Het
Lhx9	T	C	1: 138,838,543 (GRCm38)	D169G	possibly damaging	Het
Lman1l	A	G	9: 57,611,747 (GRCm38)		probably null	Het
Lmod3	A	G	6: 97,247,273 (GRCm38)	L529P	probably damaging	Het
Nup155	A	G	15: 8,144,093 (GRCm38)	T891A	probably benign	Het
Olfr20	T	C	11: 73,353,756 (GRCm38)	M1T	probably null	Het
Olfr341	T	A	2: 36,479,984 (GRCm38)	I49F	probably damaging	Het
Olfr409-ps1	T	C	11: 74,317,459 (GRCm38)	*145R	probably null	Het
Olfr739	A	G	14: 50,424,527 (GRCm38)	T3A	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540 (GRCm38)		probably null	Het
Papln	G	C	12: 83,774,680 (GRCm38)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,446,035 (GRCm38)	V160I	probably benign	Het
Pde8b	A	G	13: 95,027,597 (GRCm38)		probably benign	Het
Ppme1	G	A	7: 100,354,795 (GRCm38)	R68*	probably null	Het
Prob1	T	C	18: 35,654,782 (GRCm38)	S140G	probably benign	Het
Ptprn2	A	T	12: 117,255,595 (GRCm38)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,787,123 (GRCm38)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 116,097,469 (GRCm38)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,744,187 (GRCm38)	D420V	probably damaging	Het
Ros1	G	T	10: 52,077,971 (GRCm38)	S1857R	probably benign	Het
Rsf1	A	G	7: 97,662,109 (GRCm38)	E682G	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Homo
Samd4	G	A	14: 47,087,872 (GRCm38)	R515H	probably damaging	Het
Selp	T	A	1: 164,141,510 (GRCm38)	W560R	probably benign	Het
Shc3	A	T	13: 51,461,432 (GRCm38)	L163Q	probably damaging	Het
Shh	G	A	5: 28,461,399 (GRCm38)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,592,075 (GRCm38)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,048,824 (GRCm38)		probably benign	Het
Smarcd2	A	G	11: 106,266,889 (GRCm38)		probably null	Het
Sytl3	A	G	17: 6,728,265 (GRCm38)	D148G	probably damaging	Het
Tnks	G	T	8: 34,918,461 (GRCm38)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,202,634 (GRCm38)		probably benign	Het
Ube3c	T	C	5: 29,601,163 (GRCm38)	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,139,682 (GRCm38)	I209V	probably benign	Het
Usp1	A	G	4: 98,929,845 (GRCm38)	N140S	probably damaging	Het
Vcam1	T	C	3: 116,125,957 (GRCm38)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,360,609 (GRCm38)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,806,032 (GRCm38)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 13,084,927 (GRCm38)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,334,351 (GRCm38)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,951,890 (GRCm38)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,887,349 (GRCm38)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,623,934 (GRCm38)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,779,543 (GRCm38)	N901K	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
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
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'- CTCTGCCTGGACATTATAAACAGATG -3'
(R):5'- GATGAGCACTGCCTTTGAAAATC -3'

Sequencing Primer
(F):5'- CCTGGACATTATAAACAGATGGCTGG -3'
(R):5'- AACGGTGTGCTAACATCTGC -3'

Posted On

2017-08-16