Incidental Mutation 'R1397:Abca17'
ID 160203
Institutional Source Beutler Lab
Gene Symbol Abca17
Ensembl Gene ENSMUSG00000035435
Gene Name ATP-binding cassette, sub-family A (ABC1), member 17
Synonyms
MMRRC Submission 039459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1397 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24264259-24351029 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24285759 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1222 (E1222G)
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: E1222G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: E1222G

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: E1222G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: E1222G

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 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph G A 13: 19,142,028 (GRCm38) V643M probably damaging Het
Ankmy2 T C 12: 36,170,441 (GRCm38) probably benign Het
Arhgef10l C T 4: 140,544,443 (GRCm38) G827D probably damaging Het
Chrac1 A G 15: 73,090,444 (GRCm38) D3G possibly damaging Het
Dmrtb1 G C 4: 107,677,039 (GRCm38) P349R probably damaging Het
Drd1 A G 13: 54,053,554 (GRCm38) Y207H probably damaging Het
Dync1h1 G A 12: 110,636,509 (GRCm38) E2195K probably benign Het
Epb41l3 T A 17: 69,262,348 (GRCm38) probably null Het
Fam13b C T 18: 34,445,583 (GRCm38) M705I probably benign Het
Gtf3c3 C T 1: 54,417,778 (GRCm38) A488T probably damaging Het
Iqgap2 A G 13: 95,632,165 (GRCm38) I1409T probably benign Het
Itih1 C T 14: 30,929,905 (GRCm38) probably benign Het
Itih5 A T 2: 10,240,807 (GRCm38) D569V probably benign Het
Krt9 A T 11: 100,192,638 (GRCm38) L189Q probably damaging Het
Mfsd11 T C 11: 116,873,297 (GRCm38) F368S probably damaging Het
Neb C A 2: 52,243,943 (GRCm38) V3343F probably damaging Het
Nfe2l3 T C 6: 51,433,294 (GRCm38) S130P probably benign Het
Nid1 G A 13: 13,508,795 (GRCm38) A1153T possibly damaging Het
Nr2c2 T C 6: 92,149,764 (GRCm38) I78T probably benign Het
Nrp1 T G 8: 128,418,716 (GRCm38) Y84* probably null Het
Pate2 T A 9: 35,669,695 (GRCm38) F2I probably damaging Het
Pign A G 1: 105,657,771 (GRCm38) S18P probably damaging Het
Pla2r1 T A 2: 60,534,762 (GRCm38) T155S probably benign Het
Rabl3 C T 16: 37,539,974 (GRCm38) probably benign Het
Rhbg C T 3: 88,248,446 (GRCm38) V66I probably benign Het
Rimkla C T 4: 119,468,111 (GRCm38) G367E probably benign Het
Rnpepl1 C A 1: 92,917,159 (GRCm38) T391N probably damaging Het
Rnps1 C T 17: 24,412,057 (GRCm38) probably benign Het
Rrs1 G A 1: 9,545,767 (GRCm38) E82K probably damaging Het
Slc25a48 A C 13: 56,465,051 (GRCm38) D254A probably damaging Het
Slc28a2 T A 2: 122,460,531 (GRCm38) C659* probably null Het
Sned1 G A 1: 93,281,654 (GRCm38) V830M possibly damaging Het
Spata31d1a C T 13: 59,705,039 (GRCm38) probably benign Het
Srrm1 A C 4: 135,321,431 (GRCm38) probably benign Het
Srrt A G 5: 137,300,261 (GRCm38) V247A possibly damaging Het
Tnks2 T C 19: 36,880,501 (GRCm38) probably benign Het
Trim33 A G 3: 103,310,434 (GRCm38) probably benign Het
Trim42 T A 9: 97,365,621 (GRCm38) I341F probably damaging Het
Trim55 T C 3: 19,644,637 (GRCm38) F10S probably benign Het
Trpm1 T C 7: 64,217,658 (GRCm38) W369R probably damaging Het
Vps13d C T 4: 145,141,334 (GRCm38) R1976H 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
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
R7355:Abca17 UTSW 17 24,267,647 (GRCm38) missense probably benign 0.00
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'- GGATGGTGGCACATGCCTACAA -3'
(R):5'- ACCAGGAGTCAGGAACCCACAG -3'

Sequencing Primer
(F):5'- tgtggtggtggtggtgg -3'
(R):5'- AGGAACCCACAGTGTGGTC -3'
Posted On 2014-03-14