Incidental Mutation 'R0355:Abca16'
ID 29766
Institutional Source Beutler Lab
Gene Symbol Abca16
Ensembl Gene ENSMUSG00000051900
Gene Name ATP-binding cassette, sub-family A member 16
Synonyms
MMRRC Submission 038561-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0355 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120008870-120144036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 120023021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 52 (I52M)
Ref Sequence ENSEMBL: ENSMUSP00000112736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056042] [ENSMUST00000120490]
AlphaFold E9PWJ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000056042
AA Change: I52M

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: I52M

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 26 455 2.7e-23 PFAM
AAA 537 720 2.01e-7 SMART
Pfam:ABC2_membrane_3 898 1287 4.6e-25 PFAM
low complexity region 1325 1336 N/A INTRINSIC
low complexity region 1342 1353 N/A INTRINSIC
AAA 1378 1563 4.23e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120490
AA Change: I52M

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: I52M

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 25 456 2.4e-22 PFAM
AAA 538 721 2.01e-7 SMART
Pfam:ABC2_membrane_3 899 1288 1.1e-27 PFAM
low complexity region 1326 1337 N/A INTRINSIC
low complexity region 1343 1354 N/A INTRINSIC
AAA 1379 1564 4.23e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144122
SMART Domains Protein: ENSMUSP00000114975
Gene: ENSMUSG00000051900

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 2 133 1e-16 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 90.2%
Validation Efficiency 100% (76/76)
Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G T 5: 31,049,335 (GRCm39) probably null Het
Akt2 T C 7: 27,336,334 (GRCm39) probably benign Het
Arl6ip5 T A 6: 97,209,378 (GRCm39) S138T probably damaging Het
Atp9b A G 18: 80,952,800 (GRCm39) probably benign Het
Ccdc171 A T 4: 83,553,919 (GRCm39) N422Y probably damaging Het
Ccr5 C T 9: 123,924,951 (GRCm39) P185S possibly damaging Het
Cep63 G T 9: 102,500,759 (GRCm39) Q38K probably benign Het
Cgn T C 3: 94,682,242 (GRCm39) S446G probably benign Het
Col16a1 T A 4: 129,952,206 (GRCm39) probably benign Het
Csmd1 T A 8: 15,968,330 (GRCm39) Q3099L probably damaging Het
Dcc G A 18: 71,708,279 (GRCm39) T479I possibly damaging Het
Dclre1a A G 19: 56,535,067 (GRCm39) probably null Het
Dlg1 T A 16: 31,502,992 (GRCm39) C66* probably null Het
Dnah12 T A 14: 26,427,272 (GRCm39) probably null Het
Dnajb9 T A 12: 44,253,987 (GRCm39) H140L probably damaging Het
Dnase1 G A 16: 3,857,413 (GRCm39) V237M probably damaging Het
Dscam C A 16: 96,456,105 (GRCm39) E1274D probably benign Het
Epb41 T C 4: 131,727,572 (GRCm39) H243R probably damaging Het
Evc T A 5: 37,473,656 (GRCm39) probably benign Het
Fcgrt T A 7: 44,752,493 (GRCm39) M1L unknown Het
Flii T C 11: 60,610,506 (GRCm39) probably null Het
Gen1 A G 12: 11,298,355 (GRCm39) probably benign Het
Gm10447 T C 11: 53,347,257 (GRCm39) probably benign Het
Gm57858 A G 3: 36,101,054 (GRCm39) probably benign Het
Gm8674 A T 13: 50,055,975 (GRCm39) noncoding transcript Het
Gpr137 G C 19: 6,916,491 (GRCm39) D253E probably damaging Het
Grid2ip A T 5: 143,343,652 (GRCm39) D116V probably benign Het
Grin2c A G 11: 115,151,554 (GRCm39) probably benign Het
Havcr1 A G 11: 46,647,051 (GRCm39) T162A possibly damaging Het
Hspa1l A T 17: 35,196,386 (GRCm39) T142S probably benign Het
Ift140 T A 17: 25,267,409 (GRCm39) Y602* probably null Het
Il18 T A 9: 50,490,575 (GRCm39) probably benign Het
Ilf3 T C 9: 21,309,266 (GRCm39) V474A probably damaging Het
Inppl1 T C 7: 101,476,664 (GRCm39) Y771C probably damaging Het
Ints2 T C 11: 86,125,575 (GRCm39) T542A probably benign Het
Ipo7 T C 7: 109,648,868 (GRCm39) Y714H probably benign Het
Itgbl1 T A 14: 124,077,997 (GRCm39) C162* probably null Het
Kcp T C 6: 29,496,926 (GRCm39) H561R possibly damaging Het
Krt23 G T 11: 99,376,613 (GRCm39) T181N probably benign Het
Lrrc40 A T 3: 157,746,108 (GRCm39) D61V probably damaging Het
Lypd4 T A 7: 24,564,691 (GRCm39) H149L probably benign Het
Map3k4 A G 17: 12,473,058 (GRCm39) F953L probably damaging Het
Mctp1 C T 13: 76,972,982 (GRCm39) P405S probably damaging Het
Mfsd2a G A 4: 122,845,632 (GRCm39) T173I possibly damaging Het
Mtus1 T C 8: 41,535,965 (GRCm39) T584A probably benign Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nipsnap1 G A 11: 4,839,957 (GRCm39) G226E probably damaging Het
Nudt15 T C 14: 73,760,824 (GRCm39) Y89C probably damaging Het
Or10g7 T A 9: 39,905,459 (GRCm39) S118T possibly damaging Het
Or10h28 T A 17: 33,488,109 (GRCm39) M137K probably damaging Het
Or13p3 T A 4: 118,566,808 (GRCm39) M68K probably benign Het
Or7a37 T G 10: 78,806,267 (GRCm39) S261R probably damaging Het
Phf24 A C 4: 42,933,891 (GRCm39) E91A probably damaging Het
Plbd1 T A 6: 136,618,165 (GRCm39) N17I possibly damaging Het
Por C T 5: 135,761,438 (GRCm39) S308L probably benign Het
Prmt8 T A 6: 127,688,837 (GRCm39) K178* probably null Het
Rev3l A G 10: 39,693,282 (GRCm39) N454S probably damaging Het
Rps6ka2 T C 17: 7,539,009 (GRCm39) V309A probably benign Het
Slc15a5 A G 6: 137,995,112 (GRCm39) probably benign Het
Slc30a6 G A 17: 74,730,198 (GRCm39) V363I probably benign Het
Snf8 G A 11: 95,930,125 (GRCm39) M42I probably benign Het
Stom T C 2: 35,215,371 (GRCm39) I65V probably benign Het
Tacr3 C T 3: 134,637,989 (GRCm39) T382I probably benign Het
Tenm3 A G 8: 48,682,010 (GRCm39) V2540A probably damaging Het
Trabd A G 15: 88,969,816 (GRCm39) T314A possibly damaging Het
Tyk2 T C 9: 21,025,486 (GRCm39) probably null Het
Ube4a T C 9: 44,856,099 (GRCm39) probably benign Het
Unc80 A G 1: 66,589,015 (GRCm39) H1060R possibly damaging Het
Virma A T 4: 11,528,626 (GRCm39) K1288* probably null Het
Vmn2r100 A C 17: 19,751,582 (GRCm39) I542L probably benign Het
Vwde T C 6: 13,187,806 (GRCm39) probably benign Het
Zfc3h1 T C 10: 115,245,018 (GRCm39) I797T possibly damaging Het
Zfp74 C T 7: 29,653,466 (GRCm39) probably benign Het
Zkscan7 T A 9: 122,717,872 (GRCm39) L89Q probably damaging Het
Other mutations in Abca16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Abca16 APN 7 120,022,982 (GRCm39) missense probably benign 0.08
IGL00590:Abca16 APN 7 120,023,038 (GRCm39) missense probably damaging 1.00
IGL01320:Abca16 APN 7 120,038,422 (GRCm39) missense probably damaging 1.00
IGL01322:Abca16 APN 7 120,038,422 (GRCm39) missense probably damaging 1.00
IGL01613:Abca16 APN 7 120,140,500 (GRCm39) missense probably benign 0.03
IGL01774:Abca16 APN 7 120,021,024 (GRCm39) splice site probably benign
IGL01774:Abca16 APN 7 120,077,058 (GRCm39) missense probably damaging 1.00
IGL01797:Abca16 APN 7 120,113,760 (GRCm39) missense probably benign 0.15
IGL02406:Abca16 APN 7 120,139,825 (GRCm39) missense probably damaging 1.00
IGL02437:Abca16 APN 7 120,132,952 (GRCm39) missense probably benign 0.00
IGL02541:Abca16 APN 7 120,113,881 (GRCm39) missense possibly damaging 0.91
IGL02576:Abca16 APN 7 120,032,678 (GRCm39) missense probably benign 0.05
IGL02578:Abca16 APN 7 120,023,179 (GRCm39) critical splice donor site probably null
IGL03156:Abca16 APN 7 120,023,074 (GRCm39) missense possibly damaging 0.69
IGL03381:Abca16 APN 7 120,127,041 (GRCm39) missense probably benign 0.12
PIT4802001:Abca16 UTSW 7 120,139,351 (GRCm39) missense probably benign 0.31
R0024:Abca16 UTSW 7 120,032,608 (GRCm39) missense probably damaging 1.00
R0026:Abca16 UTSW 7 120,077,146 (GRCm39) splice site probably benign
R0026:Abca16 UTSW 7 120,077,146 (GRCm39) splice site probably benign
R0123:Abca16 UTSW 7 120,139,378 (GRCm39) missense probably damaging 1.00
R0134:Abca16 UTSW 7 120,139,378 (GRCm39) missense probably damaging 1.00
R0225:Abca16 UTSW 7 120,139,378 (GRCm39) missense probably damaging 1.00
R0346:Abca16 UTSW 7 120,035,155 (GRCm39) missense probably damaging 1.00
R0358:Abca16 UTSW 7 120,143,939 (GRCm39) missense probably benign 0.01
R0525:Abca16 UTSW 7 120,065,033 (GRCm39) nonsense probably null
R0617:Abca16 UTSW 7 120,032,834 (GRCm39) splice site probably benign
R0625:Abca16 UTSW 7 120,035,116 (GRCm39) missense probably damaging 1.00
R0835:Abca16 UTSW 7 120,065,007 (GRCm39) missense probably benign 0.42
R1445:Abca16 UTSW 7 120,119,256 (GRCm39) missense probably benign 0.41
R1535:Abca16 UTSW 7 120,139,928 (GRCm39) missense probably benign 0.30
R1567:Abca16 UTSW 7 120,030,352 (GRCm39) missense probably benign 0.08
R1694:Abca16 UTSW 7 120,119,307 (GRCm39) missense probably damaging 1.00
R1860:Abca16 UTSW 7 120,133,986 (GRCm39) missense probably benign 0.02
R1876:Abca16 UTSW 7 120,032,608 (GRCm39) missense probably damaging 1.00
R1913:Abca16 UTSW 7 120,140,463 (GRCm39) missense probably benign 0.04
R1940:Abca16 UTSW 7 120,032,832 (GRCm39) splice site probably benign
R2042:Abca16 UTSW 7 120,143,941 (GRCm39) missense probably benign
R2115:Abca16 UTSW 7 120,139,868 (GRCm39) missense probably damaging 1.00
R2122:Abca16 UTSW 7 120,119,184 (GRCm39) missense probably damaging 1.00
R2265:Abca16 UTSW 7 120,030,383 (GRCm39) missense probably benign 0.03
R2267:Abca16 UTSW 7 120,030,383 (GRCm39) missense probably benign 0.03
R2269:Abca16 UTSW 7 120,030,383 (GRCm39) missense probably benign 0.03
R2993:Abca16 UTSW 7 120,134,384 (GRCm39) missense probably damaging 1.00
R3055:Abca16 UTSW 7 120,035,074 (GRCm39) missense probably benign 0.05
R3956:Abca16 UTSW 7 120,126,975 (GRCm39) missense probably damaging 0.96
R4114:Abca16 UTSW 7 120,126,290 (GRCm39) missense probably benign 0.06
R4441:Abca16 UTSW 7 120,127,024 (GRCm39) missense probably benign 0.04
R4601:Abca16 UTSW 7 120,035,920 (GRCm39) missense probably damaging 0.98
R4706:Abca16 UTSW 7 120,064,988 (GRCm39) missense probably damaging 1.00
R4807:Abca16 UTSW 7 120,139,832 (GRCm39) missense probably damaging 1.00
R4824:Abca16 UTSW 7 120,074,702 (GRCm39) missense possibly damaging 0.86
R4937:Abca16 UTSW 7 120,126,309 (GRCm39) missense probably damaging 0.98
R5152:Abca16 UTSW 7 120,139,846 (GRCm39) missense probably benign 0.02
R5257:Abca16 UTSW 7 120,035,992 (GRCm39) critical splice donor site probably null
R5258:Abca16 UTSW 7 120,035,992 (GRCm39) critical splice donor site probably null
R5330:Abca16 UTSW 7 120,102,600 (GRCm39) missense probably benign 0.15
R5388:Abca16 UTSW 7 120,139,969 (GRCm39) critical splice donor site probably null
R5590:Abca16 UTSW 7 120,143,995 (GRCm39) missense probably damaging 0.98
R5810:Abca16 UTSW 7 120,035,155 (GRCm39) missense probably damaging 1.00
R6030:Abca16 UTSW 7 120,133,021 (GRCm39) missense probably benign
R6030:Abca16 UTSW 7 120,133,021 (GRCm39) missense probably benign
R6161:Abca16 UTSW 7 120,139,934 (GRCm39) missense probably damaging 1.00
R6313:Abca16 UTSW 7 120,126,344 (GRCm39) missense probably damaging 1.00
R6485:Abca16 UTSW 7 120,026,390 (GRCm39) nonsense probably null
R6527:Abca16 UTSW 7 120,076,995 (GRCm39) missense possibly damaging 0.95
R6772:Abca16 UTSW 7 120,126,276 (GRCm39) missense probably damaging 1.00
R6885:Abca16 UTSW 7 120,119,332 (GRCm39) missense probably benign 0.07
R6899:Abca16 UTSW 7 120,126,264 (GRCm39) missense probably damaging 1.00
R6941:Abca16 UTSW 7 120,140,370 (GRCm39) missense probably damaging 1.00
R6990:Abca16 UTSW 7 120,126,950 (GRCm39) missense probably benign 0.00
R7059:Abca16 UTSW 7 120,020,971 (GRCm39) missense probably benign 0.00
R7144:Abca16 UTSW 7 120,032,796 (GRCm39) missense possibly damaging 0.89
R7146:Abca16 UTSW 7 120,126,974 (GRCm39) missense possibly damaging 0.46
R7193:Abca16 UTSW 7 120,026,409 (GRCm39) missense probably damaging 1.00
R7308:Abca16 UTSW 7 120,022,993 (GRCm39) missense probably benign 0.01
R7449:Abca16 UTSW 7 120,035,131 (GRCm39) missense possibly damaging 0.95
R7571:Abca16 UTSW 7 120,119,211 (GRCm39) missense probably benign 0.11
R7617:Abca16 UTSW 7 120,102,694 (GRCm39) nonsense probably null
R7646:Abca16 UTSW 7 120,113,937 (GRCm39) missense probably benign 0.04
R7750:Abca16 UTSW 7 120,113,928 (GRCm39) missense probably benign 0.09
R7763:Abca16 UTSW 7 120,113,825 (GRCm39) missense probably damaging 1.00
R7840:Abca16 UTSW 7 120,074,689 (GRCm39) missense probably benign 0.00
R7946:Abca16 UTSW 7 120,126,398 (GRCm39) missense probably benign 0.01
R8018:Abca16 UTSW 7 120,132,866 (GRCm39) missense probably benign 0.04
R8170:Abca16 UTSW 7 120,065,005 (GRCm39) missense probably damaging 1.00
R8413:Abca16 UTSW 7 120,023,123 (GRCm39) missense probably benign 0.06
R8461:Abca16 UTSW 7 120,035,918 (GRCm39) missense possibly damaging 0.95
R8858:Abca16 UTSW 7 120,052,327 (GRCm39) missense probably benign
R8881:Abca16 UTSW 7 120,074,794 (GRCm39) missense probably benign 0.18
R9272:Abca16 UTSW 7 120,076,993 (GRCm39) missense probably benign 0.13
R9303:Abca16 UTSW 7 120,126,989 (GRCm39) missense probably benign 0.25
R9305:Abca16 UTSW 7 120,126,989 (GRCm39) missense probably benign 0.25
R9320:Abca16 UTSW 7 120,139,320 (GRCm39) missense probably damaging 0.98
R9413:Abca16 UTSW 7 120,126,422 (GRCm39) missense probably benign 0.01
R9512:Abca16 UTSW 7 120,022,963 (GRCm39) missense probably benign 0.01
R9559:Abca16 UTSW 7 120,021,019 (GRCm39) critical splice donor site probably null
R9615:Abca16 UTSW 7 120,126,404 (GRCm39) missense probably benign 0.01
R9641:Abca16 UTSW 7 120,126,308 (GRCm39) missense possibly damaging 0.52
R9643:Abca16 UTSW 7 120,065,023 (GRCm39) missense possibly damaging 0.96
R9674:Abca16 UTSW 7 120,074,668 (GRCm39) critical splice acceptor site probably null
R9714:Abca16 UTSW 7 120,030,383 (GRCm39) missense probably benign 0.01
R9799:Abca16 UTSW 7 120,132,998 (GRCm39) missense probably benign 0.00
R9800:Abca16 UTSW 7 120,119,283 (GRCm39) missense possibly damaging 0.68
RF020:Abca16 UTSW 7 120,132,880 (GRCm39) missense possibly damaging 0.90
X0066:Abca16 UTSW 7 120,102,609 (GRCm39) missense probably benign 0.00
Predicted Primers
Protein Function and Prediction

Abca16 encodes ABCA16, a member of the ATP-binding cassette (ABC) transporter superfamily.  The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca16 has been cloned rat and mouse; no human orthologue has been described. The ABCA16 has two nucleotide-binding folds and two transmembrane domains.  Abca16 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis. 

Posted On 2013-04-24