Incidental Mutation 'R8811:Abca17'
ID 672441
Institutional Source Beutler Lab
Gene Symbol Abca17
Ensembl Gene ENSMUSG00000035435
Gene Name ATP-binding cassette, sub-family A (ABC1), member 17
Synonyms
MMRRC Submission 068646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8811 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24264259-24351029 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 24317238 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 485 (K485T)
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: K485T

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: K485T

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: K485T

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: K485T

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 86,553,394 L337M probably damaging Het
Adcy4 T C 14: 55,772,764 D687G probably benign Het
Aldoc T A 11: 78,324,784 I98N probably damaging Het
Aoah T A 13: 20,999,951 V395D probably damaging Het
Arap1 C T 7: 101,387,196 R397W probably damaging Het
Arl16 A T 11: 120,466,700 M63K probably damaging Het
Atf7 T C 15: 102,593,709 D4G probably damaging Het
Atp6v0d2 A T 4: 19,922,397 V34D probably benign Het
Camk1g C G 1: 193,362,100 G2A probably damaging Het
Cenpe A G 3: 135,223,240 T302A probably damaging Het
Cps1 T C 1: 67,214,087 V1246A probably benign Het
Csmd3 T C 15: 47,696,743 D1397G Het
Ddx39b T A 17: 35,244,459 S115T probably benign Het
Dnaja3 C A 16: 4,696,519 T305K probably benign Het
Dusp7 C G 9: 106,371,042 H290D probably benign Het
Emilin2 T A 17: 71,275,287 D148V possibly damaging Het
Erbin C T 13: 103,886,316 R5Q probably damaging Het
Fam26d T A 10: 34,041,665 K263N probably benign Het
Fam3b T C 16: 97,512,515 probably benign Het
Foxn3 T C 12: 99,196,692 S317G probably benign Het
Gipc1 T A 8: 83,662,290 M177K possibly damaging Het
Grpel2 A C 18: 61,718,752 probably benign Het
Htr1a G C 13: 105,444,593 A114P probably damaging Het
Iqch A T 9: 63,544,913 M210K possibly damaging Het
Kdelr3 T C 15: 79,525,851 I179T possibly damaging Het
Lat2 C T 5: 134,606,699 probably benign Het
Mcrip1 A G 11: 120,544,779 V10A probably damaging Het
Mib1 C T 18: 10,755,643 L350F probably benign Het
Nhlrc2 T A 19: 56,594,912 V605E probably benign Het
Nup133 AAGAGA AAGA 8: 123,911,888 900 probably null Het
Nutm2 A T 13: 50,469,953 I229F probably benign Het
Olfr308 G A 7: 86,321,781 T57M probably damaging Het
Phkb T C 8: 86,018,527 V611A possibly damaging Het
Polg2 A T 11: 106,779,382 Y21N probably benign Het
Prss28 T A 17: 25,309,653 I23N probably benign Het
Ptprz1 G A 6: 23,030,662 V1856I probably benign Het
Slc22a22 A T 15: 57,244,841 I526N probably damaging Het
Slc24a4 T C 12: 102,213,874 F68S probably damaging Het
Slc37a3 A G 6: 39,345,340 S377P probably damaging Het
Smoc2 T C 17: 14,325,634 S62P probably damaging Het
Sox4 A G 13: 28,952,928 S32P probably damaging Het
Stxbp2 A T 8: 3,639,541 Q426L Het
Synrg T G 11: 84,019,584 S937A probably benign Het
Tbr1 C A 2: 61,811,852 T487K possibly damaging Het
Tll2 T C 19: 41,206,573 T25A probably benign Het
Trim31 T C 17: 36,899,983 F169S probably benign Het
Tro G A X: 150,655,559 S34L unknown Het
Tspear T C 10: 77,829,629 F83S probably benign Het
Ubr5 C A 15: 38,040,879 A254S Het
Ubtfl1 A G 9: 18,410,163 E329G probably benign Het
Vmn2r45 A G 7: 8,471,882 W716R probably damaging Het
Vmn2r67 T C 7: 85,150,687 M448V probably damaging Het
Wwc2 T G 8: 47,883,544 I228L possibly damaging Het
Zbtb20 T C 16: 43,610,494 V383A probably benign Het
Other mutations in Abca17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Abca17 APN 17 24295191 missense probably benign 0.14
IGL00585:Abca17 APN 17 24300320 missense probably damaging 0.99
IGL00941:Abca17 APN 17 24317130 missense probably damaging 1.00
IGL01987:Abca17 APN 17 24346228 missense probably benign 0.00
IGL01988:Abca17 APN 17 24334255 missense probably damaging 0.99
IGL02223:Abca17 APN 17 24287935 nonsense probably null
IGL02368:Abca17 APN 17 24287793 missense probably benign 0.01
IGL02405:Abca17 APN 17 24279062 missense possibly damaging 0.80
IGL02431:Abca17 APN 17 24298984 missense probably benign 0.05
IGL02607:Abca17 APN 17 24327705 nonsense probably null
IGL02706:Abca17 APN 17 24298992 missense probably benign 0.00
IGL02729:Abca17 APN 17 24280481 missense probably benign 0.06
IGL02818:Abca17 APN 17 24300352 missense probably benign 0.02
IGL02891:Abca17 APN 17 24281366 missense probably damaging 0.99
IGL03236:Abca17 APN 17 24326476 splice site probably benign
IGL03299:Abca17 APN 17 24265591 missense probably damaging 1.00
basin UTSW 17 24318185 missense probably benign 0.01
Bowl UTSW 17 24317238 missense probably benign 0.09
R0018:Abca17 UTSW 17 24313188 splice site probably null
R0467:Abca17 UTSW 17 24313177 splice site probably benign
R0671:Abca17 UTSW 17 24281249 missense probably benign 0.00
R1175:Abca17 UTSW 17 24289351 missense possibly damaging 0.91
R1397:Abca17 UTSW 17 24285759 missense probably benign 0.18
R1398:Abca17 UTSW 17 24328537 missense probably damaging 0.96
R1678:Abca17 UTSW 17 24335620 missense probably benign 0.05
R1696:Abca17 UTSW 17 24267658 missense possibly damaging 0.90
R1781:Abca17 UTSW 17 24267557 missense possibly damaging 0.95
R1845:Abca17 UTSW 17 24267716 missense probably damaging 1.00
R1970:Abca17 UTSW 17 24307575 missense probably benign 0.00
R1997:Abca17 UTSW 17 24285726 missense probably benign 0.02
R2141:Abca17 UTSW 17 24334266 missense probably benign 0.00
R2199:Abca17 UTSW 17 24335624 missense probably benign 0.19
R2394:Abca17 UTSW 17 24281216 splice site probably null
R2442:Abca17 UTSW 17 24328632 missense probably benign 0.02
R2509:Abca17 UTSW 17 24289613 splice site probably benign
R2848:Abca17 UTSW 17 24289507 missense probably damaging 0.96
R2849:Abca17 UTSW 17 24289507 missense probably damaging 0.96
R2859:Abca17 UTSW 17 24281314 missense possibly damaging 0.46
R2879:Abca17 UTSW 17 24289507 missense probably damaging 0.96
R2935:Abca17 UTSW 17 24289507 missense probably damaging 0.96
R3153:Abca17 UTSW 17 24328746 missense probably damaging 1.00
R3154:Abca17 UTSW 17 24328746 missense probably damaging 1.00
R3434:Abca17 UTSW 17 24289537 missense probably damaging 1.00
R3695:Abca17 UTSW 17 24289507 missense probably damaging 0.96
R3905:Abca17 UTSW 17 24296283 missense probably benign 0.13
R4282:Abca17 UTSW 17 24299060 missense possibly damaging 0.49
R4334:Abca17 UTSW 17 24318268 missense probably damaging 1.00
R4350:Abca17 UTSW 17 24279046 critical splice donor site probably null
R4548:Abca17 UTSW 17 24334271 missense possibly damaging 0.82
R4626:Abca17 UTSW 17 24321084 missense probably damaging 1.00
R4722:Abca17 UTSW 17 24265429 missense probably damaging 1.00
R4745:Abca17 UTSW 17 24307453 missense probably damaging 1.00
R4818:Abca17 UTSW 17 24317161 missense probably damaging 0.98
R5279:Abca17 UTSW 17 24289414 missense probably damaging 1.00
R5310:Abca17 UTSW 17 24281230 missense probably benign 0.00
R5320:Abca17 UTSW 17 24307567 missense probably damaging 1.00
R5435:Abca17 UTSW 17 24267614 missense possibly damaging 0.90
R5622:Abca17 UTSW 17 24327668 missense probably benign 0.14
R5776:Abca17 UTSW 17 24295158 missense probably benign 0.09
R5928:Abca17 UTSW 17 24318185 missense probably benign 0.01
R6013:Abca17 UTSW 17 24287846 missense possibly damaging 0.79
R6035:Abca17 UTSW 17 24281245 missense possibly damaging 0.79
R6035:Abca17 UTSW 17 24281245 missense possibly damaging 0.79
R6052:Abca17 UTSW 17 24318191 missense probably benign 0.00
R6063:Abca17 UTSW 17 24264344 missense unknown
R6404:Abca17 UTSW 17 24265918 missense probably benign 0.13
R6746:Abca17 UTSW 17 24346221 nonsense probably null
R6819:Abca17 UTSW 17 24287793 missense probably benign 0.01
R6828:Abca17 UTSW 17 24326415 missense possibly damaging 0.91
R7043:Abca17 UTSW 17 24265500 missense probably damaging 1.00
R7065:Abca17 UTSW 17 24327751 missense probably damaging 1.00
R7123:Abca17 UTSW 17 24265975 missense probably damaging 1.00
R7157:Abca17 UTSW 17 24335590 missense possibly damaging 0.46
R7188:Abca17 UTSW 17 24335626 missense possibly damaging 0.89
R7294:Abca17 UTSW 17 24321009 missense not run
R7352:Abca17 UTSW 17 24289054 nonsense probably null
R7355:Abca17 UTSW 17 24267647 missense probably benign 0.00
R7358:Abca17 UTSW 17 24291555 missense probably benign 0.00
R7411:Abca17 UTSW 17 24328569 missense possibly damaging 0.52
R7915:Abca17 UTSW 17 24265533 missense probably damaging 1.00
R8039:Abca17 UTSW 17 24328725 missense probably damaging 1.00
R8095:Abca17 UTSW 17 24317222 missense possibly damaging 0.77
R8308:Abca17 UTSW 17 24267683 missense probably damaging 1.00
R8517:Abca17 UTSW 17 24317233 missense probably benign 0.00
R8819:Abca17 UTSW 17 24328602 missense probably damaging 1.00
R8820:Abca17 UTSW 17 24328602 missense probably damaging 1.00
R8953:Abca17 UTSW 17 24299041 missense probably benign
R9095:Abca17 UTSW 17 24281396 missense probably damaging 0.97
R9313:Abca17 UTSW 17 24346233 missense probably benign 0.00
R9314:Abca17 UTSW 17 24328619 missense possibly damaging 0.91
R9347:Abca17 UTSW 17 24264505 missense probably benign
R9351:Abca17 UTSW 17 24291777 missense probably benign 0.00
R9387:Abca17 UTSW 17 24334281 missense probably benign 0.02
R9388:Abca17 UTSW 17 24264299 missense unknown
R9440:Abca17 UTSW 17 24280478 missense probably benign 0.02
R9498:Abca17 UTSW 17 24265506 missense probably damaging 1.00
R9654:Abca17 UTSW 17 24317125 missense probably benign 0.09
R9709:Abca17 UTSW 17 24298960 missense probably benign
R9770:Abca17 UTSW 17 24295147 missense probably benign 0.00
R9773:Abca17 UTSW 17 24289591 missense probably damaging 1.00
RF024:Abca17 UTSW 17 24287732 frame shift probably null
RF029:Abca17 UTSW 17 24287727 critical splice donor site probably benign
RF032:Abca17 UTSW 17 24287727 frame shift probably null
RF036:Abca17 UTSW 17 24287727 critical splice donor site probably benign
X0017:Abca17 UTSW 17 24317163 missense probably benign 0.26
X0065:Abca17 UTSW 17 24334284 missense probably damaging 1.00
Z1088:Abca17 UTSW 17 24279079 missense probably damaging 0.96
Z1088:Abca17 UTSW 17 24279107 missense probably benign 0.03
Z1088:Abca17 UTSW 17 24346219 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAGCTTAGAGGGTTGTTTCTCAAGTC -3'
(R):5'- GGCCTGCCAGGGATTATAGATG -3'

Sequencing Primer
(F):5'- TCCTGTAGAGGAAATTAGAAAGCC -3'
(R):5'- CCTGCCAGGGATTATAGATGATCTAG -3'
Posted On 2021-04-30