Mutagenetix > Incidental Mutation

Incidental Mutation 'R8953:Abca17'

681788

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

ATP-binding cassette, sub-family A member 17

Synonyms

MMRRC Submission

068789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24483233-24570042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24518015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 765 (V765L)

Ref Sequence

ENSEMBL: ENSMUSP00000046218 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably benign
Transcript: ENSMUST00000039324
AA Change: V765L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: V765L

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

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: V765L

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
Atp2b2	T	A	6: 113,737,630 (GRCm39)	T915S	possibly damaging	Het
Cacna1s	C	T	1: 136,025,170 (GRCm39)	H992Y	possibly damaging	Het
Castor1	A	T	11: 4,171,249 (GRCm39)	I244F	probably benign	Het
Clpp	T	A	17: 57,298,373 (GRCm39)	M113K	probably damaging	Het
Cmklr2	A	G	1: 63,222,272 (GRCm39)	L321P	probably damaging	Het
Csn3	A	G	5: 88,077,809 (GRCm39)	Q105R	possibly damaging	Het
Dcaf1	G	A	9: 106,735,542 (GRCm39)	R830Q	possibly damaging	Het
Dnah17	A	T	11: 118,016,238 (GRCm39)		probably benign	Het
Etv4	A	G	11: 101,662,513 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,826 (GRCm39)	D246G	probably benign	Het
Foxo1	T	C	3: 52,253,675 (GRCm39)	S613P	probably damaging	Het
Gabra2	A	T	5: 71,163,525 (GRCm39)	C261S	probably damaging	Het
Garem1	A	T	18: 21,264,388 (GRCm39)		probably null	Het
Gmip	T	G	8: 70,269,427 (GRCm39)	L533R	probably damaging	Het
Havcr1	A	G	11: 46,647,006 (GRCm39)	T147A	possibly damaging	Het
Helz2	C	T	2: 180,874,884 (GRCm39)	R1870Q	probably damaging	Het
Itprid2	T	C	2: 79,490,839 (GRCm39)	Y986H	probably damaging	Het
Kcnk3	A	C	5: 30,779,382 (GRCm39)	K144T	probably damaging	Het
Lama5	A	G	2: 179,835,313 (GRCm39)	V1293A	probably damaging	Het
Man2b1	A	G	8: 85,818,539 (GRCm39)	I498V	probably benign	Het
Map6	T	C	7: 98,965,078 (GRCm39)	L289P	probably damaging	Het
Mapk7	G	T	11: 61,383,792 (GRCm39)	D43E	possibly damaging	Het
Medag	A	G	5: 149,350,765 (GRCm39)	Y194C	probably damaging	Het
Mertk	A	G	2: 128,620,716 (GRCm39)		probably benign	Het
Mier3	C	A	13: 111,842,587 (GRCm39)	T136K	probably benign	Het
Ndc1	T	A	4: 107,238,890 (GRCm39)	W242R	probably damaging	Het
Nlrp1b	A	G	11: 71,052,632 (GRCm39)	V932A	probably damaging	Het
Or2m12	T	A	16: 19,105,269 (GRCm39)	M75L	probably benign	Het
Or5p55	G	A	7: 107,567,251 (GRCm39)	V216I	probably benign	Het
Or5w15	A	T	2: 87,568,371 (GRCm39)	M99K	probably benign	Het
Or9a4	G	T	6: 40,548,676 (GRCm39)	A119S	possibly damaging	Het
Otub2	A	T	12: 103,370,585 (GRCm39)	D289V	probably damaging	Het
P2rx3	A	G	2: 84,853,842 (GRCm39)	V133A	possibly damaging	Het
Pde4a	C	A	9: 21,122,030 (GRCm39)	T585K	probably damaging	Het
Pik3c2a	A	T	7: 115,987,320 (GRCm39)	Y534N	probably benign	Het
Pip5kl1	A	G	2: 32,469,991 (GRCm39)	D232G	possibly damaging	Het
Pklr	C	T	3: 89,049,612 (GRCm39)	S234L	probably damaging	Het
Pkn1	T	C	8: 84,410,815 (GRCm39)	K271E	probably damaging	Het
Plch1	T	G	3: 63,639,126 (GRCm39)	H449P	possibly damaging	Het
Pparg	T	C	6: 115,418,507 (GRCm39)	L92P	possibly damaging	Het
Pramel51	A	G	12: 88,144,070 (GRCm39)	C248R	probably benign	Het
Ptgdr2	C	T	19: 10,917,786 (GRCm39)	T101I	probably benign	Het
Rad54l2	A	T	9: 106,570,461 (GRCm39)	H1286Q	probably benign	Het
Ralgapa1	A	G	12: 55,867,546 (GRCm39)	S3P	probably damaging	Het
Rictor	G	A	15: 6,823,928 (GRCm39)	V1598I	probably benign	Het
Rph3al	G	T	11: 75,797,401 (GRCm39)	C98*	probably null	Het
Rpn2	A	G	2: 157,163,746 (GRCm39)	T613A	probably damaging	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Rusf1	T	G	7: 127,872,678 (GRCm39)	Q423H	probably benign	Het
Sh3bp4	A	G	1: 89,072,159 (GRCm39)	I336V	probably damaging	Het
Slc6a20b	T	C	9: 123,438,254 (GRCm39)	N174S	probably damaging	Het
Spta1	A	G	1: 174,058,241 (GRCm39)	N1903S	probably benign	Het
Tacc2	T	C	7: 130,227,487 (GRCm39)	S1391P	probably benign	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Trhde	T	A	10: 114,338,966 (GRCm39)	I615F	probably damaging	Het
Ttc13	T	C	8: 125,402,088 (GRCm39)	N556S	probably damaging	Het
Ttn	T	A	2: 76,568,228 (GRCm39)	D19228V	probably damaging	Het
Unc13c	T	A	9: 73,840,044 (GRCm39)	Y269F	probably benign	Het
Usp33	T	A	3: 152,080,420 (GRCm39)	V517E	possibly damaging	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Zfp318	T	A	17: 46,731,356 (GRCm39)	S1120T	probably benign	Het
Zfr2	C	A	10: 81,084,271 (GRCm39)	N650K	probably damaging	Het
Znfx1	G	A	2: 166,897,421 (GRCm39)	T501I	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
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
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'- AAGACTATTTTGCATGTGGGC -3'
(R):5'- TCTCCTGATTCTGAAACAAGAGC -3'

Sequencing Primer
(F):5'- CATGTGGGCATGTGTAAAGG -3'
(R):5'- CCAGGTCATTACAGTTTAAACCTC -3'

Posted On

2021-08-31