Incidental Mutation 'R1678:Abca17'
ID 188312
Institutional Source Beutler Lab
Gene Symbol Abca17
Ensembl Gene ENSMUSG00000035435
Gene Name ATP-binding cassette, sub-family A member 17
Synonyms
MMRRC Submission 039714-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1678 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24483233-24570042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24554594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 120 (I120S)
Ref Sequence ENSEMBL: ENSMUSP00000112538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039324] [ENSMUST00000121226]
AlphaFold E9PX95
Predicted Effect probably benign
Transcript: ENSMUST00000039324
AA Change: I120S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: I120S

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: I120S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: I120S

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A C 12: 118,929,064 (GRCm39) probably benign Het
Abcc4 T A 14: 118,832,306 (GRCm39) T775S probably benign Het
Acnat2 T A 4: 49,380,568 (GRCm39) Y270F probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Ankib1 A G 5: 3,756,301 (GRCm39) I548T probably damaging Het
Apbb1ip A T 2: 22,764,892 (GRCm39) probably null Het
Asb17 C T 3: 153,550,004 (GRCm39) S12F probably damaging Het
Atad2b G A 12: 5,015,899 (GRCm39) V542I possibly damaging Het
Atxn7 T C 14: 14,096,239 (GRCm38) F515L probably damaging Het
Bicc1 A G 10: 70,779,348 (GRCm39) L680P probably damaging Het
Bpifb6 G A 2: 153,750,562 (GRCm39) R351H probably damaging Het
C4b A G 17: 34,962,624 (GRCm39) F26S probably benign Het
Cadps A G 14: 12,517,802 (GRCm38) probably null Het
Capza1 G T 3: 104,771,669 (GRCm39) S9* probably null Het
Ccl11 C T 11: 81,948,866 (GRCm39) P25L probably damaging Het
Cdyl A T 13: 36,040,872 (GRCm39) K306N probably damaging Het
Cnga3 T C 1: 37,300,579 (GRCm39) V471A possibly damaging Het
Col4a4 T C 1: 82,464,380 (GRCm39) K983E unknown Het
Cp A C 3: 20,026,881 (GRCm39) K436N probably damaging Het
Csmd1 T A 8: 15,968,252 (GRCm39) D3125V possibly damaging Het
Daw1 A T 1: 83,161,087 (GRCm39) N143I probably damaging Het
Dmd T A X: 84,018,368 (GRCm39) I3067N probably benign Het
Dnaaf9 A G 2: 130,656,193 (GRCm39) V105A probably damaging Het
Dnah11 T G 12: 117,897,580 (GRCm39) N3550T possibly damaging Het
Dnm2 T C 9: 21,378,828 (GRCm39) V129A possibly damaging Het
Dync1h1 A T 12: 110,632,096 (GRCm39) probably null Het
Dync2i1 A G 12: 116,189,590 (GRCm39) S640P probably damaging Het
Efemp1 G A 11: 28,866,942 (GRCm39) E325K probably benign Het
Enox1 A G 14: 77,815,096 (GRCm39) T85A probably benign Het
Faim2 C A 15: 99,418,217 (GRCm39) V123F possibly damaging Het
Fgfr2 T C 7: 129,830,350 (GRCm39) probably null Het
Fign T C 2: 63,810,718 (GRCm39) E184G probably damaging Het
Fnd3c2 T C X: 105,281,305 (GRCm39) T799A probably benign Het
Frem2 T C 3: 53,427,359 (GRCm39) D2931G probably damaging Het
Fsip2 A G 2: 82,816,689 (GRCm39) T4141A probably benign Het
Gigyf2 T A 1: 87,344,705 (GRCm39) M546K probably benign Het
Gm21775 G A Y: 10,553,867 (GRCm39) V139M probably damaging Het
Gpr83 G T 9: 14,778,145 (GRCm39) V172F probably damaging Het
Itprid1 G T 6: 55,945,499 (GRCm39) C740F probably benign Het
Jmjd4 A G 11: 59,344,438 (GRCm39) Y179C probably damaging Het
Kcnq3 A G 15: 65,903,281 (GRCm39) L143P probably damaging Het
Klhl41 T C 2: 69,501,283 (GRCm39) V248A probably benign Het
Lama1 T C 17: 68,117,150 (GRCm39) Y2482H possibly damaging Het
Lamb2 A T 9: 108,360,885 (GRCm39) probably null Het
Lclat1 G A 17: 73,503,715 (GRCm39) G162R probably damaging Het
Map6 T C 7: 98,917,305 (GRCm39) V26A probably damaging Het
Mdn1 A T 4: 32,663,050 (GRCm39) D107V probably damaging Het
Metap1d T A 2: 71,355,121 (GRCm39) V304D possibly damaging Het
Naca A G 10: 127,879,395 (GRCm39) probably benign Het
Napg T C 18: 63,117,143 (GRCm39) probably null Het
Nbeal1 T A 1: 60,299,493 (GRCm39) F7L probably benign Het
Ndst2 T C 14: 20,774,582 (GRCm39) T825A probably benign Het
Nsun2 T C 13: 69,775,222 (GRCm39) I353T probably damaging Het
Nt5c3b T A 11: 100,327,036 (GRCm39) I87F probably damaging Het
Nxf3 T C X: 134,976,270 (GRCm39) D407G probably damaging Het
Or51f2 T A 7: 102,526,870 (GRCm39) V181E probably damaging Het
Or8c13 A T 9: 38,091,933 (GRCm39) F62Y possibly damaging Het
Osbpl3 A C 6: 50,313,193 (GRCm39) probably null Het
P2rx3 T C 2: 84,852,811 (GRCm39) T172A possibly damaging Het
Pcdh10 G T 3: 45,336,316 (GRCm39) E877* probably null Het
Pcdhb9 A T 18: 37,534,682 (GRCm39) K225N probably damaging Het
Plch1 A G 3: 63,648,115 (GRCm39) S419P probably damaging Het
Prex2 T G 1: 11,355,313 (GRCm39) I1538S possibly damaging Het
Prss59 C A 6: 40,906,453 (GRCm39) probably benign Het
Rasl10a A G 11: 5,009,815 (GRCm39) E121G possibly damaging Het
Rbbp8 A G 18: 11,865,372 (GRCm39) T754A probably benign Het
Rictor T C 15: 6,785,952 (GRCm39) V156A probably benign Het
Ryr1 A T 7: 28,815,579 (GRCm39) Y104N probably damaging Het
Sctr G T 1: 119,964,169 (GRCm39) probably null Het
Sptbn2 T C 19: 4,800,525 (GRCm39) Y2247H probably damaging Het
Sqle C T 15: 59,196,358 (GRCm39) R384W probably damaging Het
Srcin1 C A 11: 97,409,470 (GRCm39) R1163L probably damaging Het
Srp72 A G 5: 77,128,154 (GRCm39) Y125C probably damaging Het
Srrm2 T C 17: 24,037,960 (GRCm39) S1535P probably benign Het
Sumf2 A G 5: 129,883,557 (GRCm39) E125G possibly damaging Het
Tas2r144 A T 6: 42,192,490 (GRCm39) I77F probably benign Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tcp1 T A 17: 13,139,310 (GRCm39) N212K probably benign Het
Ttc7 G T 17: 87,669,329 (GRCm39) G659C probably damaging Het
Ttn A T 2: 76,691,903 (GRCm39) probably null Het
Ubtf A T 11: 102,199,804 (GRCm39) D440E probably benign Het
Usp30 A G 5: 114,259,207 (GRCm39) D428G probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r58 G A 7: 41,513,480 (GRCm39) H388Y probably benign Het
Zbtb49 T C 5: 38,371,038 (GRCm39) D281G probably damaging Het
Zfp248 A G 6: 118,406,765 (GRCm39) S174P probably benign Het
Zswim9 T C 7: 13,011,337 (GRCm39) T4A probably benign 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
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
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'- CCTCCTCGAAAAGACAACGGAGTG -3'
(R):5'- TGGGAGTGCAGTCTTCCCAGTATAAG -3'

Sequencing Primer
(F):5'- TGAGTTGCAAAACGTGAACCTG -3'
(R):5'- tctaccagcctctgcctc -3'
Posted On 2014-05-09