Mutagenetix > Incidental Mutations

Incidental Mutation 'R5622:Abca17'

441652

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

043161-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24327668 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 320 (S320T)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039324
AA Change: S320T

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: S320T

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: S320T

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: S320T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227002

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	T	A	7: 97,386,799		probably benign	Het
Anp32b	G	A	4: 46,469,930	E202K	unknown	Het
Apcdd1	A	G	18: 62,936,902		probably null	Het
Apobec2	A	G	17: 48,423,416	V74A	possibly damaging	Het
Arid3c	A	T	4: 41,729,959	C79S	probably benign	Het
Atp1a2	A	T	1: 172,291,427		probably benign	Het
B2m	A	T	2: 122,150,990	N62I	probably damaging	Het
Borcs5	T	C	6: 134,686,123		probably null	Het
Cdk11b	A	G	4: 155,630,217	K127E	probably damaging	Het
Cep170	T	C	1: 176,735,867	H726R	possibly damaging	Het
Col5a2	A	C	1: 45,427,059	S190A	probably benign	Het
Cryba4	T	C	5: 112,251,124	D5G	probably damaging	Het
Cyp2a5	T	G	7: 26,835,874	V87G	probably damaging	Het
Cyr61	A	G	3: 145,649,320	L60P	probably damaging	Het
Dcaf8	A	G	1: 172,186,398		probably benign	Het
Dchs1	A	G	7: 105,755,293	S2681P	probably benign	Het
Ddx20	A	G	3: 105,679,011	S673P	probably damaging	Het
Deptor	T	A	15: 55,181,032	I198N	probably damaging	Het
Ebf2	T	C	14: 67,390,558	I334T	possibly damaging	Het
F5	A	G	1: 164,192,565	R870G	probably benign	Het
Flg2	A	C	3: 93,202,564	H633P	unknown	Het
Gm11938	T	A	11: 99,603,293		probably null	Het
Gm5771	A	C	6: 41,396,150	N119H	probably damaging	Het
Gm6370	A	G	5: 146,493,898	T298A	probably benign	Het
Gm9825	C	T	6: 7,982,605		noncoding transcript	Het
H60b	C	A	10: 22,283,542		probably benign	Het
Hsbp1	A	G	8: 119,344,585	T4A	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,208	D266E	possibly damaging	Het
Ift172	T	C	5: 31,283,082	Y287C	probably damaging	Het
Il20rb	T	A	9: 100,486,318	Q4L	probably benign	Het
Krt5	T	C	15: 101,709,035	D421G	probably damaging	Het
Lonp1	G	C	17: 56,620,263	A330G	probably benign	Het
Me3	A	G	7: 89,796,663	D196G	probably damaging	Het
Mfsd12	T	A	10: 81,363,627	V451E	probably null	Het
Mib1	A	G	18: 10,794,503	N663S	possibly damaging	Het
Mtus2	A	T	5: 148,078,434	N679I	probably benign	Het
Myt1	A	G	2: 181,797,122	T146A	probably benign	Het
Neb	T	A	2: 52,270,269	H2244L	probably damaging	Het
Olfr1444	A	C	19: 12,862,299	I175L	probably benign	Het
Olfr510	C	T	7: 108,668,082	T222I	probably benign	Het
Olfr630	T	C	7: 103,755,169	T139A	probably damaging	Het
Pabpc4	A	G	4: 123,291,731		probably null	Het
Padi1	C	A	4: 140,824,955	V393L	probably damaging	Het
Pax2	A	T	19: 44,818,466	D300V	probably damaging	Het
Pcgf2	T	C	11: 97,690,252	E71G	probably damaging	Het
Pi4kb	A	G	3: 94,998,861	Q573R	possibly damaging	Het
Pitpna	T	A	11: 75,620,327	M242K	possibly damaging	Het
Pkd1	A	G	17: 24,574,040	E1567G	possibly damaging	Het
Plcb2	A	T	2: 118,714,729	S630R	probably damaging	Het
Prrt2	A	T	7: 127,019,765	V176D	probably benign	Het
Prss42	T	C	9: 110,799,422		probably null	Het
Rhoq	A	G	17: 86,997,031	R197G	probably benign	Het
Rin2	A	T	2: 145,860,379	T332S	probably benign	Het
Rp1	A	T	1: 4,347,837	N1017K	possibly damaging	Het
Setbp1	T	A	18: 78,857,485	Y989F	probably damaging	Het
Slc11a1	G	A	1: 74,380,906	G191D	probably damaging	Het
Slc35f5	G	A	1: 125,589,956	R497Q	probably damaging	Het
Slf1	T	C	13: 77,049,971	K728R	probably benign	Het
Tiparp	T	G	3: 65,547,525	S364A	probably benign	Het
Tph1	G	A	7: 46,647,545	Q409*	probably null	Het
Trp73	A	T	4: 154,060,592	I526N	possibly damaging	Het
Ttc9c	G	A	19: 8,815,968	R103*	probably null	Het
Vmn2r75	T	A	7: 86,148,494	I704F	probably benign	Het
Wdr76	A	G	2: 121,517,735	R63G	probably damaging	Het
Zc3h3	T	A	15: 75,777,079	S735C	probably damaging	Het
Zfp383	G	A	7: 29,912,190	V32M	probably damaging	Het
Zfp810	T	A	9: 22,279,096	Y172F	probably benign	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
R5435:Abca17	UTSW	17	24267614	missense	possibly damaging	0.90
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
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'- ATTTGTGAGCCTCAAGTCCC -3'
(R):5'- TGGATTGCGGTGACAGACTC -3'

Sequencing Primer
(F):5'- CTGTAGAGTGAATTCCATGCCAGC -3'
(R):5'- TTGCGGTGACAGACTCTGAGAC -3'

Posted On

2016-11-08