Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:Abca17'

428295

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

043000-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24267614 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1480 (V1480I)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039324
AA Change: V1480I

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: V1480I

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: V1480I

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: V1480I

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,741,250		probably benign	Het
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Acsf3	T	A	8: 122,780,281	N104K	probably damaging	Het
Adam23	T	C	1: 63,546,453	Y400H	possibly damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Ap1g1	T	A	8: 109,838,920	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccar2	A	G	14: 70,139,327	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fbxo4	C	T	15: 3,965,792	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Olfr992	T	A	2: 85,400,470	N21I	probably benign	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Tchh	C	A	3: 93,443,672	R140S	possibly damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	possibly 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
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
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
RF019:Abca17	UTSW	17	24287732	frame shift	probably null
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'- CACAGCTCTTCTATGCCTGACAG -3'
(R):5'- GCAAAACTGAAGCTCCAGGC -3'

Sequencing Primer
(F):5'- TGACAGGCTTTACTCTACAATCCAG -3'
(R):5'- GAAACTATGGAAGAGGCTTCACTCTG -3'

Posted On

2016-09-01