Mutagenetix > Incidental Mutation

Incidental Mutation 'R7188:Abca17'

559456

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

ATP-binding cassette, sub-family A member 17

Synonyms

MMRRC Submission

045272-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7188 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24483233-24570042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24554600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 118 (Y118C)

Ref Sequence

ENSEMBL: ENSMUSP00000046218 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039324
AA Change: Y118C

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: Y118C

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: Y118C

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: Y118C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,150,781 (GRCm39)		probably null	Het
Acox2	T	A	14: 8,252,996 (GRCm38)	I236L	possibly damaging	Het
Adamts12	A	T	15: 11,336,411 (GRCm39)	K1499*	probably null	Het
Ankrd24	G	T	10: 81,472,224 (GRCm39)	E20*	probably null	Het
Arsa	A	T	15: 89,359,830 (GRCm39)	Y32*	probably null	Het
Atp9b	A	G	18: 80,961,041 (GRCm39)	S57P		Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bace1	A	G	9: 45,767,393 (GRCm39)	D192G	probably benign	Het
Bltp1	A	T	3: 37,004,162 (GRCm39)	T1624S	probably benign	Het
Bltp3b	T	C	10: 89,615,744 (GRCm39)	V129A	probably damaging	Het
Cacna1d	T	C	14: 29,811,790 (GRCm39)	S1309G	probably benign	Het
Cd177	G	T	7: 24,456,072 (GRCm39)	T232K	probably damaging	Het
Chil4	T	A	3: 106,111,475 (GRCm39)	D213V	probably damaging	Het
Cmya5	A	T	13: 93,182,546 (GRCm39)	I3538N	probably damaging	Het
Cyp26a1	T	A	19: 37,687,753 (GRCm39)	M287K	possibly damaging	Het
Dcaf5	T	C	12: 80,446,732 (GRCm39)	D129G	probably damaging	Het
Dnah12	A	C	14: 26,536,370 (GRCm39)	K2095N	probably benign	Het
Dnpep	G	A	1: 75,292,701 (GRCm39)	S106L	probably damaging	Het
Dock2	C	T	11: 34,189,675 (GRCm39)	E1499K	possibly damaging	Het
Dus4l	A	G	12: 31,696,714 (GRCm39)	F88L	probably damaging	Het
Fcrl2	A	C	3: 87,166,830 (GRCm39)	D54E	probably benign	Het
Fign	T	A	2: 63,809,950 (GRCm39)	H440L	possibly damaging	Het
Gabpa	A	G	16: 84,643,174 (GRCm39)	D157G	probably damaging	Het
Gapdh	T	A	6: 125,142,403 (GRCm39)		probably benign	Het
Gbp8	G	T	5: 105,164,081 (GRCm39)	R406S	probably benign	Het
Gm21775	A	G	Y: 10,553,894 (GRCm39)	R148G	possibly damaging	Het
Gm28363	G	A	1: 117,626,579 (GRCm39)	V6I	unknown	Het
Gmps	A	G	3: 63,918,982 (GRCm39)	D522G	probably damaging	Het
Gpr75	T	C	11: 30,842,687 (GRCm39)	S531P	probably damaging	Het
Hars2	G	T	18: 36,923,614 (GRCm39)	E468D	probably benign	Het
Jph4	C	A	14: 55,352,664 (GRCm39)	R23L	probably damaging	Het
Kctd12	T	A	14: 103,219,230 (GRCm39)	Y216F	probably benign	Het
L3mbtl1	G	A	2: 162,791,460 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,926,675 (GRCm39)	S3494T	possibly damaging	Het
Mybpc2	A	G	7: 44,155,617 (GRCm39)	S879P	probably benign	Het
Ncaph	C	T	2: 126,964,034 (GRCm39)	V304M	probably benign	Het
Noto	A	T	6: 85,405,047 (GRCm39)	I229F	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,597,731 (GRCm39)	M170V	unknown	Het
Or4c29	T	C	2: 88,740,203 (GRCm39)	D178G	probably damaging	Het
Or8k25	T	A	2: 86,243,695 (GRCm39)	K234*	probably null	Het
Pald1	A	T	10: 61,182,845 (GRCm39)	V368E	probably damaging	Het
Pde9a	T	A	17: 31,678,071 (GRCm39)	M217K	probably damaging	Het
Pira1	A	T	7: 3,741,828 (GRCm39)	V184E	probably damaging	Het
Pitpnm2	G	T	5: 124,259,366 (GRCm39)	A1323E	probably benign	Het
Ppp1r3a	T	C	6: 14,719,190 (GRCm39)	S575G	probably benign	Het
Prok1	T	C	3: 107,146,941 (GRCm39)	I9V	probably benign	Het
Ptprc	A	T	1: 137,998,918 (GRCm39)	V905D	probably damaging	Het
Rbm25	G	T	12: 83,710,772 (GRCm39)	G295V	unknown	Het
Rreb1	T	C	13: 38,100,544 (GRCm39)	M225T	possibly damaging	Het
Ryr3	T	C	2: 112,858,989 (GRCm39)	K55E	probably damaging	Het
Saxo4	T	A	19: 10,459,702 (GRCm39)	M2L	probably benign	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Setx	C	A	2: 29,038,184 (GRCm39)	D1556E	probably benign	Het
Sft2d1	C	T	17: 8,542,164 (GRCm39)	T136I	possibly damaging	Het
Sirt5	C	T	13: 43,525,380 (GRCm39)	A63V	possibly damaging	Het
Skor2	A	G	18: 76,947,504 (GRCm39)	T409A	possibly damaging	Het
Slc12a6	T	C	2: 112,164,760 (GRCm39)	M153T	probably benign	Het
Slc34a1	A	G	13: 24,006,348 (GRCm39)	Y458C	probably damaging	Het
Slc36a2	A	G	11: 55,053,483 (GRCm39)	V385A	possibly damaging	Het
St6galnac5	A	T	3: 152,552,131 (GRCm39)	H145Q	probably damaging	Het
Tal1	T	A	4: 114,925,610 (GRCm39)	N226K	probably damaging	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Usp6nl	T	C	2: 6,445,330 (GRCm39)	S436P	probably benign	Het
Utp3	A	G	5: 88,702,621 (GRCm39)	E50G	probably benign	Het
Zfp12	A	T	5: 143,225,749 (GRCm39)	Q19L	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
R4722:Abca17	UTSW	17	24,484,403 (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
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'- ATCTGATGGGAAAATTGGCTTG -3'
(R):5'- TTCTGGGAGTGCAGTCTTCC -3'

Sequencing Primer
(F):5'- GGCTTGATTAACCCATACTCAGGG -3'
(R):5'- GAGTGCAGTCTTCCCAGTATAAG -3'

Posted On

2019-06-26