Incidental Mutation 'IGL02223:Abca17'
ID285236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca17
Ensembl Gene ENSMUSG00000035435
Gene NameATP-binding cassette, sub-family A (ABC1), member 17
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.296) question?
Stock #IGL02223
Quality Score
Status
Chromosome17
Chromosomal Location24264259-24351029 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 24287935 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 1148 (W1148*)
Ref Sequence ENSEMBL: ENSMUSP00000112538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039324] [ENSMUST00000121226]
Predicted Effect probably null
Transcript: ENSMUST00000039324
AA Change: W1148*
SMART Domains Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: W1148*

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 null
Transcript: ENSMUST00000121226
AA Change: W1148*
SMART Domains Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: W1148*

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,361,705 S62P possibly damaging Het
Akap8 T C 17: 32,316,647 Y131C probably damaging Het
Ccdc151 G A 9: 21,993,612 R293C probably damaging Het
Ccdc169 A G 3: 55,142,300 N48S probably benign Het
Ccdc80 A G 16: 45,095,603 T241A probably damaging Het
Cct7 G T 6: 85,462,041 M112I probably benign Het
Cftr G A 6: 18,221,482 A198T probably damaging Het
Crk T C 11: 75,703,379 V264A probably damaging Het
Ddx58 T C 4: 40,209,993 N692D possibly damaging Het
Dhx34 T C 7: 16,198,659 T1071A probably benign Het
Dlst A G 12: 85,130,918 I362V probably benign Het
Fat2 T C 11: 55,273,129 E3100G probably benign Het
Fbxo11 A G 17: 88,009,286 V323A probably benign Het
Foxe3 C A 4: 114,925,709 R102L probably damaging Het
Gale T C 4: 135,966,506 F162S probably damaging Het
Gipc2 G A 3: 152,128,050 P198L probably damaging Het
Gm5258 A G 1: 86,323,396 noncoding transcript Het
Gpatch11 A G 17: 78,845,179 T259A probably benign Het
H2-M10.3 T C 17: 36,368,080 N32S possibly damaging Het
Hdlbp T C 1: 93,412,449 I999V probably damaging Het
Ibtk A G 9: 85,710,366 probably benign Het
Ift46 A G 9: 44,786,312 S165G probably damaging Het
Igsf1 A G X: 49,785,020 S389P probably damaging Het
Lrrd1 A C 5: 3,850,211 N172T probably benign Het
Mamdc2 G A 19: 23,359,143 probably benign Het
Matn2 A G 15: 34,423,718 N574S probably benign Het
Med1 T C 11: 98,157,876 D683G probably damaging Het
Mon1a A G 9: 107,901,285 E236G probably damaging Het
Moxd2 T A 6: 40,885,033 I202F probably damaging Het
Nif3l1 T A 1: 58,448,043 Y129* probably null Het
Nlrp5 T C 7: 23,430,022 probably benign Het
Olfr177 C T 16: 58,872,694 G152E probably damaging Het
Pcx T C 19: 4,601,978 Y84H probably damaging Het
Pom121l2 T C 13: 21,982,095 S179P probably benign Het
Rexo4 C A 2: 26,955,499 C369F probably damaging Het
Scmh1 C A 4: 120,515,219 H406Q probably benign Het
Slc12a8 A G 16: 33,624,690 D372G probably damaging Het
Snip1 T C 4: 125,072,752 F325S possibly damaging Het
Spr-ps1 C T 6: 85,155,199 noncoding transcript Het
Stk36 A G 1: 74,623,337 Y538C possibly damaging Het
Svil A G 18: 5,105,879 probably benign Het
Syne2 A G 12: 76,108,305 T6787A probably benign Het
Tbcel T G 9: 42,451,718 M10L probably benign Het
Tesk2 T A 4: 116,741,825 Y43* probably null Het
Tjp1 C T 7: 65,322,601 R605Q probably damaging Het
Tmem65 A G 15: 58,790,151 probably benign Het
Tnnt2 A G 1: 135,842,015 probably benign Het
Trmt44 T C 5: 35,574,645 E134G probably benign Het
Trpv2 T C 11: 62,581,255 L91P probably benign Het
Ttn G A 2: 76,977,119 T90I probably damaging Het
Yy1 A G 12: 108,793,540 E43G unknown 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
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
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
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
Posted On2015-04-16