Mutagenetix > Incidental Mutations

Incidental Mutation 'R9347:Abca17'

707889

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24264505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1659 (M1659K)

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: M1659K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: M1659K

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: M1659K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: M1659K

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: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	A	11: 105,974,132	Q544K	probably damaging	Het
Agpat4	A	G	17: 12,210,281	E140G	possibly damaging	Het
Akap12	A	G	10: 4,353,640	D150G	probably benign	Het
Akap6	A	G	12: 53,069,111	Y999C	probably damaging	Het
Ank1	A	G	8: 23,117,060	I1326V	possibly damaging	Het
Apold1	T	A	6: 134,984,036	L151Q	probably damaging	Het
Arntl	A	G	7: 113,299,280	D305G	possibly damaging	Het
BC049352	A	G	9: 45,242,973	N44S	possibly damaging	Het
Brsk2	A	G	7: 141,998,396	S564G	probably damaging	Het
C87414	T	A	5: 93,638,838	E24V	probably damaging	Het
Ceacam18	T	C	7: 43,645,491	V325A	possibly damaging	Het
Clstn2	T	C	9: 97,582,601	Y167C	probably damaging	Het
Cyp11a1	G	T	9: 58,020,858	V324L	possibly damaging	Het
Ddx27	A	G	2: 167,020,030	T151A	possibly damaging	Het
Dhrs4	A	G	14: 55,489,849	I252M	possibly damaging	Het
Dlg2	A	G	7: 91,711,692	D6G	probably benign	Het
Dnah8	G	A	17: 30,708,359	E1330K	probably benign	Het
Ehd3	A	G	17: 73,830,396	E520G	probably benign	Het
Epha5	A	G	5: 84,331,872	V91A	possibly damaging	Het
Fam20c	C	A	5: 138,757,921	H237Q	probably benign	Het
Fam217a	C	T	13: 34,910,679	G366S	probably damaging	Het
Fancf	T	C	7: 51,861,611	E215G	probably benign	Het
Fermt3	A	T	19: 7,003,296	I301N	probably damaging	Het
Fyco1	A	T	9: 123,831,285		probably null	Het
Gen1	T	C	12: 11,261,067	N55D	probably damaging	Het
Gm20604	A	T	12: 102,743,377	C75S	unknown	Het
Gm3045	T	A	13: 56,430,347	V199D	unknown	Het
Gm49368	A	G	7: 128,113,006	T805A	possibly damaging	Het
Hgf	T	C	5: 16,604,923		probably null	Het
Hnrnpul2	T	A	19: 8,820,716	H145Q	probably benign	Het
Ift140	A	G	17: 25,094,779	M1395V	probably benign	Het
Il17rc	T	G	6: 113,480,819		probably null	Het
Kansl1l	T	A	1: 66,801,188	T318S	probably benign	Het
Kcnc1	A	T	7: 46,427,610	N279Y	probably damaging	Het
Khdrbs2	T	A	1: 32,472,747	H264Q	probably benign	Het
Klf12	A	G	14: 100,022,708	V195A	possibly damaging	Het
Lhfpl2	A	G	13: 94,192,031	E200G	probably damaging	Het
Lmna	T	C	3: 88,486,241	D300G	probably damaging	Het
Lrif1	A	G	3: 106,734,358	T17A	possibly damaging	Het
Mdm1	A	G	10: 118,146,618	I53V	probably damaging	Het
Mga	T	A	2: 119,903,037	I122N	probably damaging	Het
Mos	A	G	4: 3,871,763	S18P	probably benign	Het
Mterf3	C	T	13: 66,914,788	V295I	possibly damaging	Het
Muc16	G	A	9: 18,660,215	T336I	unknown	Het
Myo15	T	C	11: 60,483,729	S136P		Het
Nav3	T	A	10: 109,903,094	I128F	probably damaging	Het
Nphs1	A	G	7: 30,471,169	D928G	probably damaging	Het
Olfr1026	T	A	2: 85,923,475	V69E	probably damaging	Het
Olfr1037	T	C	2: 86,085,567	D70G	possibly damaging	Het
Olfr1468-ps1	A	T	19: 13,375,189	T76S	possibly damaging	Het
Olfr495	A	G	7: 108,396,052	K311E	probably benign	Het
Olfr625-ps1	A	G	7: 103,683,257	I180V	probably damaging	Het
Parvb	T	C	15: 84,271,322		probably null	Het
Patj	A	C	4: 98,688,247	E574A	probably benign	Het
Ppp2r1a	A	G	17: 20,961,615	N465S	probably benign	Het
Senp6	A	G	9: 80,139,097	K950E	possibly damaging	Het
Sept12	T	C	16: 4,987,617	H304R	probably damaging	Het
Sept3	T	C	15: 82,283,713	V110A	probably damaging	Het
Slc25a35	G	T	11: 68,971,250	V170L	probably benign	Het
Slco3a1	A	T	7: 74,284,405	L673Q	possibly damaging	Het
Tcp1	A	G	17: 12,917,800	M23V	probably benign	Het
Thg1l	T	C	11: 45,954,461		probably benign	Het
Tiam2	G	A	17: 3,421,648	E522K	probably benign	Het
Tie1	G	A	4: 118,484,670	T194I	possibly damaging	Het
Vmn2r49	T	A	7: 9,984,747	E463D	probably benign	Het
Wdr1	C	A	5: 38,540,012		probably null	Het
Zbtb38	A	T	9: 96,685,596	M1145K	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
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
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
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
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
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'- TATGCGAACACAGGCTACCC -3'
(R):5'- CCTTATGTGCAGCAACTGGC -3'

Sequencing Primer
(F):5'- AGCTCTTTATTACAGAAGGATGGGC -3'
(R):5'- AGTACACTGTAGCTGTCTTCAGAC -3'

Posted On

2022-04-18