Incidental Mutation 'R7358:Abca17'
ID 571145
Institutional Source Beutler Lab
Gene Symbol Abca17
Ensembl Gene ENSMUSG00000035435
Gene Name ATP-binding cassette, sub-family A member 17
Synonyms
MMRRC Submission 045444-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7358 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 24483233-24570042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24510529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 983 (Q983L)
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: Q983L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: Q983L

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: Q983L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: Q983L

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: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A T 13: 30,564,962 (GRCm39) D9V probably benign Het
Ahcyl T C 16: 45,974,201 (GRCm39) E392G probably damaging Het
Ankrd13c T A 3: 157,697,374 (GRCm39) Y326* probably null Het
Ano2 A G 6: 125,687,696 (GRCm39) D67G probably benign Het
Arhgef5 G A 6: 43,256,507 (GRCm39) R1205H probably damaging Het
Ascc3 T A 10: 50,590,448 (GRCm39) Y1055* probably null Het
Atad5 C T 11: 80,023,862 (GRCm39) A1658V probably benign Het
Atp6ap1l T C 13: 91,031,926 (GRCm39) D252G probably damaging Het
Bdkrb2 T C 12: 105,558,800 (GRCm39) V347A possibly damaging Het
Ccdc187 A T 2: 26,146,007 (GRCm39) L1194Q probably damaging Het
Chd9 A C 8: 91,710,115 (GRCm39) D770A unknown Het
Chd9 A G 8: 91,760,846 (GRCm39) D2197G unknown Het
Clip2 C A 5: 134,531,484 (GRCm39) E774* probably null Het
Clspn A G 4: 126,459,993 (GRCm39) T407A probably benign Het
Col24a1 T A 3: 144,998,926 (GRCm39) probably null Het
Cradd T A 10: 95,158,637 (GRCm39) T37S probably damaging Het
Cspg4b A G 13: 113,456,501 (GRCm39) D849G Het
Ctbp2 A G 7: 132,600,610 (GRCm39) F70S probably damaging Het
D3Ertd751e A T 3: 41,701,000 (GRCm39) E6D probably damaging Het
Dst T A 1: 34,230,754 (GRCm39) F2782L probably benign Het
Dync2h1 A G 9: 7,159,479 (GRCm39) probably null Het
Eif2s1 G T 12: 78,927,969 (GRCm39) G215V probably damaging Het
Epg5 A T 18: 78,002,252 (GRCm39) D557V possibly damaging Het
Eya4 C T 10: 22,999,749 (GRCm39) probably null Het
Fpr1 C A 17: 18,097,242 (GRCm39) R249L probably damaging Het
Fry A G 5: 150,339,788 (GRCm39) T1520A probably benign Het
Gapvd1 C T 2: 34,580,473 (GRCm39) probably null Het
Gemin4 A C 11: 76,104,278 (GRCm39) L161* probably null Het
Gid8 A T 2: 180,359,779 (GRCm39) K221I probably benign Het
Gm21028 A C 7: 42,227,913 (GRCm39) C34G probably damaging Het
Greb1 A G 12: 16,774,882 (GRCm39) S172P probably damaging Het
Herc2 A G 7: 55,832,423 (GRCm39) I3040V possibly damaging Het
Hmcn2 T A 2: 31,306,824 (GRCm39) V3190E probably damaging Het
Hrnr G T 3: 93,230,448 (GRCm39) G229* probably null Het
Igfn1 A T 1: 135,891,738 (GRCm39) V2259D probably damaging Het
Ism2 A G 12: 87,326,814 (GRCm39) F375S probably damaging Het
Kcnk4 T A 19: 6,903,478 (GRCm39) D357V probably damaging Het
Knl1 A G 2: 118,901,040 (GRCm39) R914G possibly damaging Het
Mars2 T C 1: 55,276,729 (GRCm39) S111P probably damaging Het
Mogat2 G A 7: 98,881,673 (GRCm39) P88S possibly damaging Het
Msh2 T A 17: 88,024,957 (GRCm39) S612T possibly damaging Het
Nvl A G 1: 180,962,601 (GRCm39) L123P probably damaging Het
Or1j20 T C 2: 36,759,890 (GRCm39) V104A probably benign Het
Or2d3c A T 7: 106,526,111 (GRCm39) L185Q probably damaging Het
Or51v15-ps1 A G 7: 103,278,390 (GRCm39) L259P unknown Het
Or5m11b T A 2: 85,805,780 (GRCm39) S64R possibly damaging Het
Or6c202 T A 10: 128,995,939 (GRCm39) I305F probably benign Het
Or7e174 A T 9: 20,012,169 (GRCm39) Y38F probably damaging Het
P2rx7 A T 5: 122,804,205 (GRCm39) probably null Het
Pard3 A T 8: 128,319,573 (GRCm39) I1149L probably damaging Het
Pcdha8 T A 18: 37,125,830 (GRCm39) I104N probably damaging Het
Pecr G A 1: 72,306,624 (GRCm39) T219I probably benign Het
Pgap2 A T 7: 101,859,774 (GRCm39) probably benign Het
Phf7 T C 14: 30,963,745 (GRCm39) R76G probably benign Het
Pigu T C 2: 155,141,090 (GRCm39) T268A probably damaging Het
Piwil4 T C 9: 14,641,289 (GRCm39) T231A possibly damaging Het
Pkd1l1 T G 11: 8,895,202 (GRCm39) E636A Het
Plscr3 T C 11: 69,738,316 (GRCm39) S55P unknown Het
Pnlip T A 19: 58,664,976 (GRCm39) I268N probably damaging Het
Podxl A T 6: 31,501,929 (GRCm39) H343Q probably benign Het
Prkcd T C 14: 30,327,793 (GRCm39) T213A probably benign Het
Prss22 T A 17: 24,215,419 (GRCm39) Q119L probably benign Het
Psme3ip1 T C 8: 95,302,327 (GRCm39) N235D possibly damaging Het
Ptprcap A G 19: 4,206,238 (GRCm39) E107G possibly damaging Het
Ptprg A G 14: 12,154,198 (GRCm38) T640A possibly damaging Het
Ptprh A T 7: 4,554,006 (GRCm39) probably null Het
Rasa4 A G 5: 136,124,448 (GRCm39) T166A probably benign Het
Sbf2 T C 7: 109,998,555 (GRCm39) E626G possibly damaging Het
Scn2a T A 2: 65,512,850 (GRCm39) Y203* probably null Het
Serpinb1a G C 13: 33,026,981 (GRCm39) H320Q probably damaging Het
Shisa7 G A 7: 4,832,920 (GRCm39) T464I probably benign Het
Slc47a2 G A 11: 61,199,699 (GRCm39) A399V possibly damaging Het
Snrnp200 A G 2: 127,063,746 (GRCm39) T642A probably benign Het
Spag16 A G 1: 69,883,526 (GRCm39) H85R probably benign Het
Spata31h1 A G 10: 82,127,847 (GRCm39) L1721S possibly damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stag3 C A 5: 138,299,770 (GRCm39) L894M probably damaging Het
Sun2 A T 15: 79,618,313 (GRCm39) F284Y probably benign Het
Tpx2 T A 2: 152,718,550 (GRCm39) N184K probably benign Het
Trpa1 A T 1: 14,968,334 (GRCm39) N477K probably damaging Het
Ttbk2 C T 2: 120,620,791 (GRCm39) R157H probably damaging Het
Ttn C T 2: 76,537,649 (GRCm39) E34760K probably benign Het
Tysnd1 T C 10: 61,532,427 (GRCm39) S360P probably damaging Het
Uqcc5 A G 14: 30,846,560 (GRCm39) V53A probably damaging Het
Usp34 T A 11: 23,311,683 (GRCm39) L511I probably damaging Het
Vmn2r71 A T 7: 85,273,468 (GRCm39) T761S possibly damaging Het
Zdhhc18 G T 4: 133,360,482 (GRCm39) C73* probably null Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfy1 T C Y: 735,141 (GRCm39) E214G unknown Het
Zmym5 T A 14: 57,031,597 (GRCm39) K504* probably null Het
Other mutations in Abca17
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TAGAAGCCCTCCACTTCCAG -3'
(R):5'- ACGTATTCTCGGCGCAACTG -3'

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