Mutagenetix > Incidental Mutation

Incidental Mutation 'R5776:Abca17'

446730

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

043375-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24295158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 857 (V857A)

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: V857A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: V857A

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: V857A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: V857A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,107,650	M378K	possibly damaging	Het
Abca9	C	T	11: 110,107,460		probably null	Het
Adam22	T	C	5: 8,127,361	K583E	probably benign	Het
Akr1c13	T	C	13: 4,194,187	F80L	probably damaging	Het
Apob	A	T	12: 8,006,149	I1511F	possibly damaging	Het
Cfh	C	A	1: 140,144,023	R291I	possibly damaging	Het
Col1a1	C	T	11: 94,949,724	S1114F	unknown	Het
Ctsj	T	C	13: 61,003,142	D168G	probably damaging	Het
Erf	T	C	7: 25,246,109	D79G	probably damaging	Het
Extl1	T	C	4: 134,357,772	N629S	possibly damaging	Het
Fbxo9	T	C	9: 78,095,187	E204G	probably damaging	Het
Fdx1l	C	A	9: 21,073,482	V9L	possibly damaging	Het
Gfer	G	T	17: 24,696,053	S5R	probably benign	Het
Gm15931	A	T	7: 4,281,565		noncoding transcript	Het
Gm6309	T	A	5: 146,168,881	I158F	possibly damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Gm8251	T	C	1: 44,056,505	E1811G	possibly damaging	Het
Hacl1	A	T	14: 31,622,871	N234K	possibly damaging	Het
Hcn3	C	T	3: 89,148,105	A612T	probably benign	Het
Hectd1	T	A	12: 51,764,114	E1679D	possibly damaging	Het
Hipk4	T	C	7: 27,528,980	L285P	probably damaging	Het
Igsf3	G	A	3: 101,425,480	V25I	probably benign	Het
Jade1	A	G	3: 41,613,792	H765R	probably benign	Het
Kcnv1	T	C	15: 45,114,567	D25G	unknown	Het
Klhl3	A	G	13: 58,005,184	S586P	probably benign	Het
L3mbtl2	A	G	15: 81,684,871	D582G	probably damaging	Het
Matn2	G	A	15: 34,431,619	C835Y	probably damaging	Het
Mgea5	T	C	19: 45,771,924	E265G	probably damaging	Het
Naa15	A	C	3: 51,460,026	D490A	probably damaging	Het
Nab2	T	A	10: 127,664,329	Y298F	probably damaging	Het
Nipsnap1	T	A	11: 4,888,919	M115K	probably benign	Het
Nlrp5-ps	T	C	7: 14,592,724		noncoding transcript	Het
Nol4l	T	G	2: 153,417,821	Q211P	probably damaging	Het
Olfr427	A	T	1: 174,099,773	H105L	probably damaging	Het
Olfr625-ps1	T	A	7: 103,683,039	M97K	probably damaging	Het
Pkhd1	T	C	1: 20,209,185	K2970E	possibly damaging	Het
Plin4	T	C	17: 56,104,983	T683A	probably damaging	Het
Ppm1g	T	C	5: 31,205,110	D282G	probably benign	Het
Ppp6r3	A	G	19: 3,526,901	S10P	possibly damaging	Het
Raph1	G	A	1: 60,490,156		probably benign	Het
Rc3h2	A	G	2: 37,378,313	V935A	possibly damaging	Het
Reg4	T	A	3: 98,233,028	D108E	possibly damaging	Het
Saraf	T	A	8: 34,165,450	Y228N	probably damaging	Het
Sctr	T	C	1: 120,056,407	S357P	probably damaging	Het
Sec22b	A	T	3: 97,914,568	N139Y	probably damaging	Het
Sgsm1	T	A	5: 113,250,957	I1037F	probably damaging	Het
Skint5	A	C	4: 113,763,503	S671R	unknown	Het
Slc38a3	C	A	9: 107,658,749	E62*	probably null	Het
Slfn14	C	T	11: 83,283,599	E189K	probably damaging	Het
Sox21	A	G	14: 118,235,244	L131P	probably damaging	Het
Stip1	A	G	19: 7,022,025		probably null	Het
Stx16	G	A	2: 174,093,499	G156R	probably damaging	Het
Susd1	T	C	4: 59,315,363		probably benign	Het
Tdrd7	T	A	4: 46,005,689	D498E	probably benign	Het
Tln2	C	T	9: 67,258,250	E1053K	probably damaging	Het
Trav6-4	A	G	14: 53,454,754	D103G	probably damaging	Het
Txndc15	A	G	13: 55,718,107	E128G	probably benign	Het
Vmn2r22	A	T	6: 123,637,714	W306R	probably damaging	Het
Yjefn3	A	T	8: 69,889,471	L33Q	probably damaging	Het
Zfp641	T	C	15: 98,289,010	D244G	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
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
R9347:Abca17	UTSW	17	24264505	missense	probably benign
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
R9498:Abca17	UTSW	17	24265506	missense	probably damaging	1.00
R9654:Abca17	UTSW	17	24317125	missense	probably benign	0.09
R9709:Abca17	UTSW	17	24298960	missense	probably benign
R9770:Abca17	UTSW	17	24295147	missense	probably benign	0.00
R9773:Abca17	UTSW	17	24289591	missense	probably damaging	1.00
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'- CCGTTATGCCCAGCCTAAAC -3'
(R):5'- TTATACGACTTAGACACACTTCTTGGC -3'

Sequencing Primer
(F):5'- GCCTAAACACAGCTCTTGATTG -3'
(R):5'- TGGCGCCAACGTTAATCTG -3'

Posted On

2016-12-15