Incidental Mutation 'R5590:Abca16'
ID 437439
Institutional Source Beutler Lab
Gene Symbol Abca16
Ensembl Gene ENSMUSG00000051900
Gene Name ATP-binding cassette, sub-family A member 16
Synonyms
MMRRC Submission 043143-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5590 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120008870-120144036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120143995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1671 (T1671M)
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: T1670M

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: T1670M

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 probably damaging
Transcript: ENSMUST00000120490
AA Change: T1671M

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: T1671M

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (108/108)
Allele List at MGI

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

Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik T G 4: 124,504,280 (GRCm39) M91L unknown Het
A2m C T 6: 121,653,891 (GRCm39) T1408M probably damaging Het
Adamts8 A T 9: 30,862,632 (GRCm39) N279I probably damaging Het
Adgre1 T A 17: 57,752,034 (GRCm39) I594N probably damaging Het
Aldh4a1 T A 4: 139,369,415 (GRCm39) V322E probably damaging Het
Atp12a A T 14: 56,610,837 (GRCm39) Y327F probably benign Het
C4b T C 17: 34,959,309 (GRCm39) T422A probably damaging Het
Cacna1c A T 6: 118,664,143 (GRCm39) S668T probably damaging Het
Cchcr1 A T 17: 35,837,577 (GRCm39) E426D probably damaging Het
Ccr3 G A 9: 123,828,830 (GRCm39) G55D probably damaging Het
Cdipt T A 7: 126,578,704 (GRCm39) probably null Het
Cep19 A G 16: 31,922,716 (GRCm39) probably benign Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cyp3a11 C A 5: 145,802,787 (GRCm39) M235I probably benign Het
Dnajc21 A T 15: 10,462,363 (GRCm39) D87E possibly damaging Het
Ell A C 8: 70,992,357 (GRCm39) M1L possibly damaging Het
Esyt3 T C 9: 99,240,466 (GRCm39) probably benign Het
Ets1 T C 9: 32,640,094 (GRCm39) probably benign Het
Fam222b T A 11: 78,045,858 (GRCm39) M473K probably benign Het
Fanca T C 8: 124,030,702 (GRCm39) probably benign Het
Fbrsl1 G T 5: 110,529,484 (GRCm39) A67D probably damaging Het
Fchsd1 G A 18: 38,094,380 (GRCm39) P622L probably damaging Het
Gal3st2c T G 1: 93,936,023 (GRCm39) probably null Het
Gins2 T G 8: 121,308,486 (GRCm39) H166P possibly damaging Het
Gm10118 A T 10: 63,762,845 (GRCm39) probably benign Het
Gm9979 A T 13: 40,859,289 (GRCm39) noncoding transcript Het
Hspbap1 A G 16: 35,622,033 (GRCm39) Y126C probably damaging Het
Hspd1 A T 1: 55,123,928 (GRCm39) I64N probably damaging Het
Igkv3-4 A T 6: 70,649,267 (GRCm39) S89C probably damaging Het
Il10ra T A 9: 45,176,924 (GRCm39) K134* probably null Het
Il12rb1 G A 8: 71,266,411 (GRCm39) C252Y possibly damaging Het
Il24 A T 1: 130,810,253 (GRCm39) V201E possibly damaging Het
Inpp1 A G 1: 52,833,820 (GRCm39) I92T probably damaging Het
Kcnh5 T C 12: 75,023,463 (GRCm39) D535G probably benign Het
Kcnq4 T A 4: 120,573,082 (GRCm39) I240F probably damaging Het
Kctd17 G A 15: 78,321,502 (GRCm39) probably benign Het
Leo1 T A 9: 75,364,423 (GRCm39) I521N possibly damaging Het
Mdga1 A G 17: 30,058,841 (GRCm39) L722P probably damaging Het
Met G T 6: 17,548,781 (GRCm39) V942L probably benign Het
Mfn1 A T 3: 32,617,996 (GRCm39) T110S probably benign Het
Mrps15 T C 4: 125,942,488 (GRCm39) I79T probably benign Het
Mycbp2 A C 14: 103,360,791 (GRCm39) M4497R probably damaging Het
Mylk T A 16: 34,699,722 (GRCm39) S362T probably benign Het
Mypn A G 10: 62,955,827 (GRCm39) F1209L probably benign Het
Nab2 T C 10: 127,500,526 (GRCm39) S189G probably damaging Het
Naxe A C 3: 87,963,840 (GRCm39) probably null Het
Ncf1 A G 5: 134,252,355 (GRCm39) V232A probably damaging Het
Nell1 A G 7: 49,929,359 (GRCm39) Y422C probably damaging Het
Nmnat2 G T 1: 152,969,807 (GRCm39) G176V probably damaging Het
Npr1 A G 3: 90,362,149 (GRCm39) S999P probably damaging Het
Nuak1 T C 10: 84,211,119 (GRCm39) D323G probably benign Het
Or4d10b A G 19: 12,036,642 (GRCm39) V158A probably benign Het
Or5h23 A G 16: 58,906,360 (GRCm39) F162S probably benign Het
Or8b3b T A 9: 38,584,261 (GRCm39) T160S probably damaging Het
Osbpl8 T C 10: 111,108,029 (GRCm39) S342P probably damaging Het
Pag1 A T 3: 9,764,482 (GRCm39) Y224N probably damaging Het
Pald1 T A 10: 61,179,489 (GRCm39) H460L probably damaging Het
Per2 G A 1: 91,355,578 (GRCm39) Q727* probably null Het
Pex19 T C 1: 171,960,779 (GRCm39) V134A probably benign Het
Phlpp1 A T 1: 106,320,657 (GRCm39) I1551F possibly damaging Het
Ppef2 A T 5: 92,386,998 (GRCm39) V313D probably damaging Het
Prorp T C 12: 55,351,257 (GRCm39) S189P possibly damaging Het
Pzp A C 6: 128,500,759 (GRCm39) F153C probably damaging Het
Rasl11a A G 5: 146,782,052 (GRCm39) H9R probably benign Het
Rfx3 A T 19: 27,779,780 (GRCm39) probably null Het
Rmnd5b A T 11: 51,518,789 (GRCm39) I68N probably damaging Het
Senp5 T A 16: 31,808,331 (GRCm39) S281C probably damaging Het
Sh3rf1 G A 8: 61,814,766 (GRCm39) E442K probably benign Het
Slc12a3 G A 8: 95,072,416 (GRCm39) V645M probably damaging Het
Slc22a16 T C 10: 40,457,337 (GRCm39) F193L possibly damaging Het
Slc35f1 A T 10: 52,984,274 (GRCm39) T345S possibly damaging Het
Slc9a1 G A 4: 133,148,874 (GRCm39) R704H probably damaging Het
Spta1 A T 1: 174,003,336 (GRCm39) Y89F possibly damaging Het
Sspo A G 6: 48,451,425 (GRCm39) E2741G probably damaging Het
Strn4 G A 7: 16,567,799 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,132 (GRCm39) T1859A probably damaging Het
Tbc1d14 A T 5: 36,682,389 (GRCm39) Y3N probably damaging Het
Tdrd9 C A 12: 112,018,414 (GRCm39) R1278S probably benign Het
Tenm4 C A 7: 96,446,608 (GRCm39) A826E possibly damaging Het
Tenm4 G T 7: 96,446,607 (GRCm39) A826S possibly damaging Het
Tet2 C T 3: 133,182,241 (GRCm39) probably null Het
Tfec A G 6: 16,834,199 (GRCm39) L236P probably benign Het
Tjap1 A G 17: 46,569,797 (GRCm39) S388P probably damaging Het
Tle1 T C 4: 72,043,208 (GRCm39) T554A possibly damaging Het
Tmem17 G A 11: 22,467,450 (GRCm39) V83I probably benign Het
Tnrc6b C T 15: 80,760,703 (GRCm39) H137Y probably damaging Het
Tomm5 T C 4: 45,106,679 (GRCm39) probably benign Het
Top3b T A 16: 16,709,441 (GRCm39) probably benign Het
Tph1 T C 7: 46,303,216 (GRCm39) H254R probably damaging Het
Tpte T C 8: 22,841,468 (GRCm39) Y487H probably damaging Het
Trappc13 T A 13: 104,284,749 (GRCm39) D241V probably damaging Het
Trrap A G 5: 144,719,075 (GRCm39) I193V probably benign Het
Tspear A T 10: 77,706,199 (GRCm39) H323L probably benign Het
Ttc39a A T 4: 109,290,184 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubg1 A G 11: 101,014,858 (GRCm39) D200G probably damaging Het
Ugdh C A 5: 65,580,217 (GRCm39) probably benign Het
Uso1 A G 5: 92,328,467 (GRCm39) N355D probably benign Het
Vamp4 T C 1: 162,420,248 (GRCm39) probably null Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vps52 A G 17: 34,180,195 (GRCm39) T300A probably benign Het
Wt1 A T 2: 104,957,629 (GRCm39) H163L probably damaging Het
Xirp2 T C 2: 67,344,379 (GRCm39) S2207P probably benign Het
Xpo6 A T 7: 125,706,250 (GRCm39) I30N probably damaging Het
Zfp386 T A 12: 116,023,347 (GRCm39) I320K probably benign 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
R0355:Abca16 UTSW 7 120,023,021 (GRCm39) missense possibly damaging 0.68
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
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 PCR Primer
(F):5'- AAGGGTCACCAAGAGATTCTATG -3'
(R):5'- AAGAGACTTTCGGAGCTGTGC -3'

Sequencing Primer
(F):5'- GTCACCAAGAGATTCTATGTGATAAC -3'
(R):5'- GAGCAAAGTGAATCTTCATAGTTCTG -3'
Posted On 2016-10-26