Incidental Mutation 'R7355:Abca17'
ID 570912
Institutional Source Beutler Lab
Gene Symbol Abca17
Ensembl Gene ENSMUSG00000035435
Gene Name ATP-binding cassette, sub-family A (ABC1), member 17
Synonyms
MMRRC Submission 045441-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7355 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24264259-24351029 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24267647 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1469 (R1469W)
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: R1469W

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: R1469W

DomainStartEndE-ValueType
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: R1469W

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: R1469W

DomainStartEndE-ValueType
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: 99.2%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 G T 5: 121,630,717 (GRCm38) Y728* probably null Het
Adamts17 T C 7: 67,075,304 (GRCm38) V160A Het
AI481877 T C 4: 59,076,155 (GRCm38) D596G probably benign Het
Astn1 A T 1: 158,664,276 (GRCm38) probably null Het
Atp8a2 T C 14: 60,045,004 (GRCm38) K104E possibly damaging Het
Axl T C 7: 25,774,106 (GRCm38) Y365C probably benign Het
Btbd16 A T 7: 130,821,443 (GRCm38) Y409F probably benign Het
Caln1 A T 5: 130,414,891 (GRCm38) T22S probably benign Het
Camk1 C A 6: 113,338,346 (GRCm38) G164C probably damaging Het
Cd96 T C 16: 46,041,292 (GRCm38) T512A possibly damaging Het
Ceacam5 A G 7: 17,747,387 (GRCm38) D353G probably damaging Het
Cep162 C A 9: 87,253,955 (GRCm38) E12* probably null Het
Cfh A T 1: 140,136,815 (GRCm38) V365E probably damaging Het
Chd7 A G 4: 8,752,196 (GRCm38) H231R unknown Het
Cntnap3 T C 13: 64,771,962 (GRCm38) T694A probably benign Het
Colq C A 14: 31,545,109 (GRCm38) G158V probably damaging Het
Ctif G A 18: 75,610,685 (GRCm38) H139Y probably damaging Het
D630003M21Rik A T 2: 158,200,224 (GRCm38) F934Y probably damaging Het
Dclre1a T A 19: 56,547,135 (GRCm38) T6S possibly damaging Het
Dnmbp T C 19: 43,901,741 (GRCm38) D529G probably benign Het
Fat2 T A 11: 55,256,551 (GRCm38) Q3955L probably benign Het
Gjd4 A G 18: 9,280,860 (GRCm38) S73P probably damaging Het
Gm14025 G T 2: 129,037,229 (GRCm38) Q926K unknown Het
Gm19410 C A 8: 35,807,072 (GRCm38) Q1460K probably benign Het
Golga5 A T 12: 102,472,235 (GRCm38) I70F possibly damaging Het
Gon4l T A 3: 88,863,520 (GRCm38) I502N probably damaging Het
Gtf2ird2 C G 5: 134,216,649 (GRCm38) A583G probably benign Het
Hectd1 A C 12: 51,791,298 (GRCm38) W694G possibly damaging Het
Ifit1bl2 C T 19: 34,619,661 (GRCm38) G185D probably damaging Het
Igfbp6 G A 15: 102,147,940 (GRCm38) A145T probably benign Het
Junb C T 8: 84,978,384 (GRCm38) A16T probably benign Het
Kcnh4 C T 11: 100,752,443 (GRCm38) V333I possibly damaging Het
Ly6c1 T C 15: 75,047,407 (GRCm38) T45A possibly damaging Het
Mon2 T A 10: 123,009,516 (GRCm38) Q1428L probably benign Het
Nfatc2ip C T 7: 126,387,611 (GRCm38) probably null Het
Olfml3 C A 3: 103,736,079 (GRCm38) G329W probably damaging Het
Olfr1012 C T 2: 85,753,679 (GRCm38) P106L probably benign Het
Olfr1118 T C 2: 87,309,410 (GRCm38) V207A probably benign Het
Olfr118 A G 17: 37,672,410 (GRCm38) Y129C probably benign Het
Olfr215 T A 6: 116,582,955 (GRCm38) probably benign Het
Pcsk7 A G 9: 45,909,374 (GRCm38) M35V probably benign Het
Phf14 A G 6: 12,081,007 (GRCm38) N921S probably benign Het
Pla2g4e G A 2: 120,181,501 (GRCm38) S396F possibly damaging Het
Ppp4r4 A T 12: 103,604,582 (GRCm38) K766* probably null Het
Pprc1 T C 19: 46,065,346 (GRCm38) V1105A unknown Het
Prdm9 T G 17: 15,545,235 (GRCm38) N428H probably benign Het
Prkcg C T 7: 3,323,509 (GRCm38) T497I possibly damaging Het
Prkcz A G 4: 155,357,496 (GRCm38) W60R probably damaging Het
Ptprn2 T C 12: 116,858,951 (GRCm38) F217L probably benign Het
Pum2 T A 12: 8,713,906 (GRCm38) Y283* probably null Het
Rest A G 5: 77,268,028 (GRCm38) M30V probably benign Het
Rfxank C T 8: 70,135,307 (GRCm38) R150H probably damaging Het
Ros1 T A 10: 52,166,079 (GRCm38) Q250L probably damaging Het
Sgk2 A G 2: 163,013,067 (GRCm38) D366G probably benign Het
Siglec1 A T 2: 131,080,451 (GRCm38) L568Q probably benign Het
Slain1 AT ATT 14: 103,702,576 (GRCm38) probably null Het
Slc10a5 A T 3: 10,334,315 (GRCm38) Y428* probably null Het
Slc25a54 T C 3: 109,102,769 (GRCm38) W195R probably damaging Het
Slf1 A G 13: 77,091,303 (GRCm38) I414T probably damaging Het
Snx4 C T 16: 33,266,866 (GRCm38) P127L probably damaging Het
Spdl1 A T 11: 34,823,364 (GRCm38) L166H not run Het
Tapt1 C T 5: 44,177,117 (GRCm38) V511I probably benign Het
Tbata A G 10: 61,174,320 (GRCm38) probably benign Het
Tbx4 T A 11: 85,912,009 (GRCm38) V264E probably damaging Het
Tecta A T 9: 42,367,142 (GRCm38) Y1023* probably null Het
Thop1 A G 10: 81,075,631 (GRCm38) D117G probably damaging Het
Trip12 A G 1: 84,814,883 (GRCm38) L13P probably damaging Het
Unc13b T A 4: 43,237,754 (GRCm38) V637E probably damaging Het
Yipf3 T A 17: 46,250,640 (GRCm38) M168K probably damaging Het
Zcchc6 T C 13: 59,821,802 (GRCm38) N93S probably benign Het
Zfp119a A T 17: 55,866,287 (GRCm38) C185* probably null Het
Zfyve21 A T 12: 111,825,051 (GRCm38) I157F possibly damaging Het
Zfyve26 A T 12: 79,240,054 (GRCm38) D2253E probably damaging Het
Other mutations in Abca17
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1397:Abca17 UTSW 17 24,285,759 (GRCm38) missense probably benign 0.18
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
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'- CCTGACAGGCTTTACTCTACAATCC -3'
(R):5'- AGCAAAACTGAAGCTCCAGG -3'

Sequencing Primer
(F):5'- ACTCTACAATCCAGTTCTGAGAAG -3'
(R):5'- ACTGAAGCTCCAGGCCCAG -3'
Posted On 2019-09-13