Mutagenetix > Incidental Mutation

Incidental Mutation 'R1397:Abca17'

160203

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

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

Synonyms

MMRRC Submission

039459-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24285759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1222 (E1222G)

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: E1222G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: E1222G

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: E1222G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: E1222G

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: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	G	A	13: 19,142,028 (GRCm38)	V643M	probably damaging	Het
Ankmy2	T	C	12: 36,170,441 (GRCm38)		probably benign	Het
Arhgef10l	C	T	4: 140,544,443 (GRCm38)	G827D	probably damaging	Het
Chrac1	A	G	15: 73,090,444 (GRCm38)	D3G	possibly damaging	Het
Dmrtb1	G	C	4: 107,677,039 (GRCm38)	P349R	probably damaging	Het
Drd1	A	G	13: 54,053,554 (GRCm38)	Y207H	probably damaging	Het
Dync1h1	G	A	12: 110,636,509 (GRCm38)	E2195K	probably benign	Het
Epb41l3	T	A	17: 69,262,348 (GRCm38)		probably null	Het
Fam13b	C	T	18: 34,445,583 (GRCm38)	M705I	probably benign	Het
Gtf3c3	C	T	1: 54,417,778 (GRCm38)	A488T	probably damaging	Het
Iqgap2	A	G	13: 95,632,165 (GRCm38)	I1409T	probably benign	Het
Itih1	C	T	14: 30,929,905 (GRCm38)		probably benign	Het
Itih5	A	T	2: 10,240,807 (GRCm38)	D569V	probably benign	Het
Krt9	A	T	11: 100,192,638 (GRCm38)	L189Q	probably damaging	Het
Mfsd11	T	C	11: 116,873,297 (GRCm38)	F368S	probably damaging	Het
Neb	C	A	2: 52,243,943 (GRCm38)	V3343F	probably damaging	Het
Nfe2l3	T	C	6: 51,433,294 (GRCm38)	S130P	probably benign	Het
Nid1	G	A	13: 13,508,795 (GRCm38)	A1153T	possibly damaging	Het
Nr2c2	T	C	6: 92,149,764 (GRCm38)	I78T	probably benign	Het
Nrp1	T	G	8: 128,418,716 (GRCm38)	Y84*	probably null	Het
Pate2	T	A	9: 35,669,695 (GRCm38)	F2I	probably damaging	Het
Pign	A	G	1: 105,657,771 (GRCm38)	S18P	probably damaging	Het
Pla2r1	T	A	2: 60,534,762 (GRCm38)	T155S	probably benign	Het
Rabl3	C	T	16: 37,539,974 (GRCm38)		probably benign	Het
Rhbg	C	T	3: 88,248,446 (GRCm38)	V66I	probably benign	Het
Rimkla	C	T	4: 119,468,111 (GRCm38)	G367E	probably benign	Het
Rnpepl1	C	A	1: 92,917,159 (GRCm38)	T391N	probably damaging	Het
Rnps1	C	T	17: 24,412,057 (GRCm38)		probably benign	Het
Rrs1	G	A	1: 9,545,767 (GRCm38)	E82K	probably damaging	Het
Slc25a48	A	C	13: 56,465,051 (GRCm38)	D254A	probably damaging	Het
Slc28a2	T	A	2: 122,460,531 (GRCm38)	C659*	probably null	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Spata31d1a	C	T	13: 59,705,039 (GRCm38)		probably benign	Het
Srrm1	A	C	4: 135,321,431 (GRCm38)		probably benign	Het
Srrt	A	G	5: 137,300,261 (GRCm38)	V247A	possibly damaging	Het
Tnks2	T	C	19: 36,880,501 (GRCm38)		probably benign	Het
Trim33	A	G	3: 103,310,434 (GRCm38)		probably benign	Het
Trim42	T	A	9: 97,365,621 (GRCm38)	I341F	probably damaging	Het
Trim55	T	C	3: 19,644,637 (GRCm38)	F10S	probably benign	Het
Trpm1	T	C	7: 64,217,658 (GRCm38)	W369R	probably damaging	Het
Vps13d	C	T	4: 145,141,334 (GRCm38)	R1976H	probably damaging	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
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
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'- GGATGGTGGCACATGCCTACAA -3'
(R):5'- ACCAGGAGTCAGGAACCCACAG -3'

Sequencing Primer
(F):5'- tgtggtggtggtggtgg -3'
(R):5'- AGGAACCCACAGTGTGGTC -3'

Posted On

2014-03-14