Mutagenetix > Incidental Mutation

Incidental Mutation 'R4722:Abca17'

354565

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

ATP-binding cassette, sub-family A member 17

Synonyms

MMRRC Submission

041987-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24483233-24570042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24484403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1620 (F1620L)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably damaging
Transcript: ENSMUST00000039324
AA Change: F1620L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: F1620L

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 damaging
Transcript: ENSMUST00000121226
AA Change: F1620L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: F1620L

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	T	12: 55,107,922 (GRCm39)	D92E	probably benign	Het
Abcf1	T	C	17: 36,268,933 (GRCm39)		probably benign	Het
Adtrp	T	C	13: 41,920,823 (GRCm39)	H248R	probably benign	Het
Aldh1b1	T	G	4: 45,803,472 (GRCm39)	F337V	probably damaging	Het
Amz2	C	T	11: 109,325,457 (GRCm39)	L272F	probably damaging	Het
Asic2	A	T	11: 81,859,009 (GRCm39)	M1K	probably null	Het
Avpr1a	T	A	10: 122,284,906 (GRCm39)	V66E	possibly damaging	Het
AW554918	C	A	18: 25,307,772 (GRCm39)	Y28*	probably null	Het
Cdc25b	C	T	2: 131,035,271 (GRCm39)	P343L	probably damaging	Het
Chd7	T	A	4: 8,822,445 (GRCm39)	I846K	probably damaging	Het
Dnajc13	A	T	9: 104,091,017 (GRCm39)	M688K	probably benign	Het
Dock2	T	A	11: 34,586,298 (GRCm39)	I505F	probably damaging	Het
Dpy19l4	A	G	4: 11,290,521 (GRCm39)	V290A	possibly damaging	Het
Dtl	G	T	1: 191,288,953 (GRCm39)	Q254K	possibly damaging	Het
Enpp2	T	G	15: 54,750,985 (GRCm39)	K265T	probably damaging	Het
Epm2aip1	TGTCGCCG	TG	9: 111,101,152 (GRCm39)		probably benign	Het
Fam133b	T	A	5: 3,593,949 (GRCm39)		probably null	Het
Fuom	A	G	7: 139,679,480 (GRCm39)		probably benign	Het
Fut9	T	C	4: 25,799,734 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,252,374 (GRCm39)	I171N	possibly damaging	Het
Gipc3	T	G	10: 81,177,129 (GRCm39)	D147A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm5591	T	C	7: 38,218,572 (GRCm39)	K767R	probably damaging	Het
Kctd8	G	A	5: 69,498,544 (GRCm39)	P34L	possibly damaging	Het
Kmt2b	G	A	7: 30,282,627 (GRCm39)	R403C	probably damaging	Het
Krt84	A	T	15: 101,436,846 (GRCm39)	I396N	probably damaging	Het
Lrrk2	C	A	15: 91,573,104 (GRCm39)	F217L	probably damaging	Het
Med27	T	A	2: 29,414,447 (GRCm39)	D290E	probably damaging	Het
Mical3	T	C	6: 121,015,486 (GRCm39)	Q184R	probably benign	Het
Mlxip	A	T	5: 123,585,265 (GRCm39)	K591M	probably benign	Het
Mutyh	T	A	4: 116,674,069 (GRCm39)	L233H	probably damaging	Het
Naip6	G	T	13: 100,443,580 (GRCm39)	H253N	possibly damaging	Het
Nynrin	A	G	14: 56,091,852 (GRCm39)	E56G	probably damaging	Het
Oip5	C	T	2: 119,443,492 (GRCm39)		probably null	Het
Or10a4	T	A	7: 106,696,777 (GRCm39)	I35N	possibly damaging	Het
Or10ak12	T	C	4: 118,666,146 (GRCm39)	N305S	probably damaging	Het
Or4c104	T	G	2: 88,586,356 (GRCm39)	H221P	possibly damaging	Het
Or4c15	T	C	2: 88,760,324 (GRCm39)	I112V	possibly damaging	Het
Or5p61	T	A	7: 107,758,445 (GRCm39)	I212F	probably benign	Het
Oxr1	T	C	15: 41,677,045 (GRCm39)	S132P	probably damaging	Het
Pcdhac1	C	T	18: 37,224,933 (GRCm39)	T582I	probably damaging	Het
Prl7a2	A	G	13: 27,844,858 (GRCm39)	I176T	probably damaging	Het
Rabgap1l	T	C	1: 160,169,734 (GRCm39)	T30A	possibly damaging	Het
Rapgef2	A	G	3: 78,976,480 (GRCm39)	M1294T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rnmt	T	A	18: 68,438,952 (GRCm39)	N20K	probably damaging	Het
Scn7a	T	A	2: 66,531,228 (GRCm39)	T550S	possibly damaging	Het
Shank1	T	A	7: 43,962,638 (GRCm39)	Y117*	probably null	Het
Skint5	T	A	4: 113,751,052 (GRCm39)	K331I	unknown	Het
Slc5a1	A	G	5: 33,304,055 (GRCm39)	Y290C	possibly damaging	Het
Slfn14	T	C	11: 83,174,244 (GRCm39)	E249G	probably benign	Het
Smarcal1	T	C	1: 72,650,496 (GRCm39)	S544P	probably damaging	Het
St6galnac3	A	T	3: 153,117,166 (GRCm39)	Y186N	probably damaging	Het
Tbc1d1	T	C	5: 64,420,900 (GRCm39)	F346S	probably damaging	Het
Tdrd5	A	T	1: 156,129,945 (GRCm39)	I75K	probably benign	Het
Tnrc6a	T	C	7: 122,791,313 (GRCm39)	M1737T	possibly damaging	Het
Toe1	A	T	4: 116,662,397 (GRCm39)	Y283N	probably damaging	Het
Tubal3	G	T	13: 3,978,185 (GRCm39)	G34C	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn1r212	T	C	13: 23,068,078 (GRCm39)	Y85C	probably damaging	Het
Yju2b	A	T	8: 84,985,439 (GRCm39)	C277S	probably benign	Het
Zdhhc4	A	G	5: 143,307,536 (GRCm39)	S162P	probably damaging	Het
Zfp712	A	G	13: 67,190,177 (GRCm39)	S117P	probably benign	Het
Zic4	G	T	9: 91,261,257 (GRCm39)	G164C	probably damaging	Het

Other mutations in Abca17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca17	APN	17	24,514,165 (GRCm39)	missense	probably benign	0.14
IGL00585:Abca17	APN	17	24,519,294 (GRCm39)	missense	probably damaging	0.99
IGL00941:Abca17	APN	17	24,536,104 (GRCm39)	missense	probably damaging	1.00
IGL01987:Abca17	APN	17	24,565,202 (GRCm39)	missense	probably benign	0.00
IGL01988:Abca17	APN	17	24,553,229 (GRCm39)	missense	probably damaging	0.99
IGL02223:Abca17	APN	17	24,506,909 (GRCm39)	nonsense	probably null
IGL02368:Abca17	APN	17	24,506,767 (GRCm39)	missense	probably benign	0.01
IGL02405:Abca17	APN	17	24,498,036 (GRCm39)	missense	possibly damaging	0.80
IGL02431:Abca17	APN	17	24,517,958 (GRCm39)	missense	probably benign	0.05
IGL02607:Abca17	APN	17	24,546,679 (GRCm39)	nonsense	probably null
IGL02706:Abca17	APN	17	24,517,966 (GRCm39)	missense	probably benign	0.00
IGL02729:Abca17	APN	17	24,499,455 (GRCm39)	missense	probably benign	0.06
IGL02818:Abca17	APN	17	24,519,326 (GRCm39)	missense	probably benign	0.02
IGL02891:Abca17	APN	17	24,500,340 (GRCm39)	missense	probably damaging	0.99
IGL03236:Abca17	APN	17	24,545,450 (GRCm39)	splice site	probably benign
IGL03299:Abca17	APN	17	24,484,565 (GRCm39)	missense	probably damaging	1.00
basin	UTSW	17	24,537,159 (GRCm39)	missense	probably benign	0.01
Bowl	UTSW	17	24,536,212 (GRCm39)	missense	probably benign	0.09
R0018:Abca17	UTSW	17	24,532,162 (GRCm39)	splice site	probably null
R0467:Abca17	UTSW	17	24,532,151 (GRCm39)	splice site	probably benign
R0671:Abca17	UTSW	17	24,500,223 (GRCm39)	missense	probably benign	0.00
R1175:Abca17	UTSW	17	24,508,325 (GRCm39)	missense	possibly damaging	0.91
R1397:Abca17	UTSW	17	24,504,733 (GRCm39)	missense	probably benign	0.18
R1398:Abca17	UTSW	17	24,547,511 (GRCm39)	missense	probably damaging	0.96
R1678:Abca17	UTSW	17	24,554,594 (GRCm39)	missense	probably benign	0.05
R1696:Abca17	UTSW	17	24,486,632 (GRCm39)	missense	possibly damaging	0.90
R1781:Abca17	UTSW	17	24,486,531 (GRCm39)	missense	possibly damaging	0.95
R1845:Abca17	UTSW	17	24,486,690 (GRCm39)	missense	probably damaging	1.00
R1970:Abca17	UTSW	17	24,526,549 (GRCm39)	missense	probably benign	0.00
R1997:Abca17	UTSW	17	24,504,700 (GRCm39)	missense	probably benign	0.02
R2141:Abca17	UTSW	17	24,553,240 (GRCm39)	missense	probably benign	0.00
R2199:Abca17	UTSW	17	24,554,598 (GRCm39)	missense	probably benign	0.19
R2394:Abca17	UTSW	17	24,500,190 (GRCm39)	splice site	probably null
R2442:Abca17	UTSW	17	24,547,606 (GRCm39)	missense	probably benign	0.02
R2509:Abca17	UTSW	17	24,508,587 (GRCm39)	splice site	probably benign
R2848:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R2849:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R2859:Abca17	UTSW	17	24,500,288 (GRCm39)	missense	possibly damaging	0.46
R2879:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R2935:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R3153:Abca17	UTSW	17	24,547,720 (GRCm39)	missense	probably damaging	1.00
R3154:Abca17	UTSW	17	24,547,720 (GRCm39)	missense	probably damaging	1.00
R3434:Abca17	UTSW	17	24,508,511 (GRCm39)	missense	probably damaging	1.00
R3695:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R3905:Abca17	UTSW	17	24,515,257 (GRCm39)	missense	probably benign	0.13
R4282:Abca17	UTSW	17	24,518,034 (GRCm39)	missense	possibly damaging	0.49
R4334:Abca17	UTSW	17	24,537,242 (GRCm39)	missense	probably damaging	1.00
R4350:Abca17	UTSW	17	24,498,020 (GRCm39)	critical splice donor site	probably null
R4548:Abca17	UTSW	17	24,553,245 (GRCm39)	missense	possibly damaging	0.82
R4626:Abca17	UTSW	17	24,540,058 (GRCm39)	missense	probably damaging	1.00
R4745:Abca17	UTSW	17	24,526,427 (GRCm39)	missense	probably damaging	1.00
R4818:Abca17	UTSW	17	24,536,135 (GRCm39)	missense	probably damaging	0.98
R5279:Abca17	UTSW	17	24,508,388 (GRCm39)	missense	probably damaging	1.00
R5310:Abca17	UTSW	17	24,500,204 (GRCm39)	missense	probably benign	0.00
R5320:Abca17	UTSW	17	24,526,541 (GRCm39)	missense	probably damaging	1.00
R5435:Abca17	UTSW	17	24,486,588 (GRCm39)	missense	possibly damaging	0.90
R5622:Abca17	UTSW	17	24,546,642 (GRCm39)	missense	probably benign	0.14
R5776:Abca17	UTSW	17	24,514,132 (GRCm39)	missense	probably benign	0.09
R5928:Abca17	UTSW	17	24,537,159 (GRCm39)	missense	probably benign	0.01
R6013:Abca17	UTSW	17	24,506,820 (GRCm39)	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24,500,219 (GRCm39)	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24,500,219 (GRCm39)	missense	possibly damaging	0.79
R6052:Abca17	UTSW	17	24,537,165 (GRCm39)	missense	probably benign	0.00
R6063:Abca17	UTSW	17	24,483,318 (GRCm39)	missense	unknown
R6404:Abca17	UTSW	17	24,484,892 (GRCm39)	missense	probably benign	0.13
R6746:Abca17	UTSW	17	24,565,195 (GRCm39)	nonsense	probably null
R6819:Abca17	UTSW	17	24,506,767 (GRCm39)	missense	probably benign	0.01
R6828:Abca17	UTSW	17	24,545,389 (GRCm39)	missense	possibly damaging	0.91
R7043:Abca17	UTSW	17	24,484,474 (GRCm39)	missense	probably damaging	1.00
R7065:Abca17	UTSW	17	24,546,725 (GRCm39)	missense	probably damaging	1.00
R7123:Abca17	UTSW	17	24,484,949 (GRCm39)	missense	probably damaging	1.00
R7157:Abca17	UTSW	17	24,554,564 (GRCm39)	missense	possibly damaging	0.46
R7188:Abca17	UTSW	17	24,554,600 (GRCm39)	missense	possibly damaging	0.89
R7294:Abca17	UTSW	17	24,539,983 (GRCm39)	missense	not run
R7352:Abca17	UTSW	17	24,508,028 (GRCm39)	nonsense	probably null
R7355:Abca17	UTSW	17	24,486,621 (GRCm39)	missense	probably benign	0.00
R7358:Abca17	UTSW	17	24,510,529 (GRCm39)	missense	probably benign	0.00
R7411:Abca17	UTSW	17	24,547,543 (GRCm39)	missense	possibly damaging	0.52
R7915:Abca17	UTSW	17	24,484,507 (GRCm39)	missense	probably damaging	1.00
R8039:Abca17	UTSW	17	24,547,699 (GRCm39)	missense	probably damaging	1.00
R8095:Abca17	UTSW	17	24,536,196 (GRCm39)	missense	possibly damaging	0.77
R8308:Abca17	UTSW	17	24,486,657 (GRCm39)	missense	probably damaging	1.00
R8517:Abca17	UTSW	17	24,536,207 (GRCm39)	missense	probably benign	0.00
R8811:Abca17	UTSW	17	24,536,212 (GRCm39)	missense	probably benign	0.09
R8819:Abca17	UTSW	17	24,547,576 (GRCm39)	missense	probably damaging	1.00
R8820:Abca17	UTSW	17	24,547,576 (GRCm39)	missense	probably damaging	1.00
R8953:Abca17	UTSW	17	24,518,015 (GRCm39)	missense	probably benign
R9095:Abca17	UTSW	17	24,500,370 (GRCm39)	missense	probably damaging	0.97
R9313:Abca17	UTSW	17	24,565,207 (GRCm39)	missense	probably benign	0.00
R9314:Abca17	UTSW	17	24,547,593 (GRCm39)	missense	possibly damaging	0.91
R9347:Abca17	UTSW	17	24,483,479 (GRCm39)	missense	probably benign
R9351:Abca17	UTSW	17	24,510,751 (GRCm39)	missense	probably benign	0.00
R9387:Abca17	UTSW	17	24,553,255 (GRCm39)	missense	probably benign	0.02
R9388:Abca17	UTSW	17	24,483,273 (GRCm39)	missense	unknown
R9440:Abca17	UTSW	17	24,499,452 (GRCm39)	missense	probably benign	0.02
R9498:Abca17	UTSW	17	24,484,480 (GRCm39)	missense	probably damaging	1.00
R9654:Abca17	UTSW	17	24,536,099 (GRCm39)	missense	probably benign	0.09
R9709:Abca17	UTSW	17	24,517,934 (GRCm39)	missense	probably benign
R9770:Abca17	UTSW	17	24,514,121 (GRCm39)	missense	probably benign	0.00
R9773:Abca17	UTSW	17	24,508,565 (GRCm39)	missense	probably damaging	1.00
RF024:Abca17	UTSW	17	24,506,706 (GRCm39)	frame shift	probably null
RF029:Abca17	UTSW	17	24,506,701 (GRCm39)	critical splice donor site	probably benign
RF032:Abca17	UTSW	17	24,506,701 (GRCm39)	frame shift	probably null
RF036:Abca17	UTSW	17	24,506,701 (GRCm39)	critical splice donor site	probably benign
X0017:Abca17	UTSW	17	24,536,137 (GRCm39)	missense	probably benign	0.26
X0065:Abca17	UTSW	17	24,553,258 (GRCm39)	missense	probably damaging	1.00
Z1088:Abca17	UTSW	17	24,498,081 (GRCm39)	missense	probably benign	0.03
Z1088:Abca17	UTSW	17	24,498,053 (GRCm39)	missense	probably damaging	0.96
Z1088:Abca17	UTSW	17	24,565,193 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGGGCCAGGCAGGTAATATTG -3'
(R):5'- TTCCCCAGTATGGAGGAGTG -3'

Sequencing Primer
(F):5'- CCAGGCAGGTAATATTGAAGCATG -3'
(R):5'- AGTGTGAAGCCTTATGTACCAG -3'

Posted On

2015-10-21