Incidental Mutation 'R2267:Abca16'
ID 242131
Institutional Source Beutler Lab
Gene Symbol Abca16
Ensembl Gene ENSMUSG00000051900
Gene Name ATP-binding cassette, sub-family A member 16
Synonyms
MMRRC Submission 040267-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2267 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120008870-120144036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120030383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 165 (D165G)
Ref Sequence ENSEMBL: ENSMUSP00000061094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056042] [ENSMUST00000120490]
AlphaFold E9PWJ7
Predicted Effect probably benign
Transcript: ENSMUST00000056042
AA Change: D165G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: D165G

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 benign
Transcript: ENSMUST00000120490
AA Change: D165G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: D165G

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (108/110)
Allele List at MGI

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

Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Abca8b G A 11: 109,845,974 (GRCm39) T820M probably benign Het
Acot2 C T 12: 84,037,334 (GRCm39) A216V probably damaging Het
Agap2 T A 10: 126,918,297 (GRCm39) probably benign Het
Ak7 T C 12: 105,713,473 (GRCm39) V419A probably benign Het
Apmap A G 2: 150,430,821 (GRCm39) probably null Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Cachd1 T A 4: 100,806,266 (GRCm39) probably benign Het
Ccdc39 T A 3: 33,869,633 (GRCm39) E731D probably damaging Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dgke T A 11: 88,943,295 (GRCm39) E231D probably benign Het
Dhrs9 A G 2: 69,223,197 (GRCm39) probably benign Het
Dhx30 C T 9: 109,916,102 (GRCm39) G662R probably damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnah7b T A 1: 46,273,075 (GRCm39) M2401K probably damaging Het
Dnmt3a T A 12: 3,947,551 (GRCm39) probably null Het
Dst C T 1: 34,334,547 (GRCm39) T4874I probably damaging Het
Eef2kmt G A 16: 5,073,804 (GRCm39) probably benign Het
Ess2 T C 16: 17,727,859 (GRCm39) T107A probably damaging Het
Etfa A T 9: 55,394,015 (GRCm39) L212Q probably damaging Het
Exosc5 T C 7: 25,363,809 (GRCm39) L107P possibly damaging Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fam186b T G 15: 99,183,524 (GRCm39) D40A probably damaging Het
Fga T C 3: 82,940,257 (GRCm39) L637P probably damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gcc1 A G 6: 28,418,498 (GRCm39) S612P probably benign Het
Gjd3 C T 11: 98,873,227 (GRCm39) V206M probably damaging Het
Gpam A T 19: 55,061,142 (GRCm39) probably null Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Gphb5 C G 12: 75,459,720 (GRCm39) V92L probably benign Het
Grid2ip C T 5: 143,371,847 (GRCm39) P690L probably benign Het
Gsdmc T C 15: 63,648,647 (GRCm39) E429G probably benign Het
H2bc9 T C 13: 23,727,162 (GRCm39) K121E possibly damaging Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 T C 1: 150,474,761 (GRCm39) S4709G probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnt2 G A 1: 140,501,421 (GRCm39) probably null Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Klrb1 A T 6: 128,699,937 (GRCm39) S25T probably damaging Het
L3mbtl3 C T 10: 26,207,755 (GRCm39) W321* probably null Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lrrtm1 C A 6: 77,220,996 (GRCm39) A151E probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Mcc T C 18: 44,652,608 (GRCm39) D272G probably damaging Het
Mgst3 T A 1: 167,201,368 (GRCm39) T106S probably benign Het
Mink1 G A 11: 70,492,550 (GRCm39) probably null Het
Mlh3 G T 12: 85,307,585 (GRCm39) H1181N possibly damaging Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mro T C 18: 74,006,368 (GRCm39) I104T probably benign Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Neurod2 C A 11: 98,218,582 (GRCm39) C194F probably damaging Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
Nup205 T C 6: 35,218,284 (GRCm39) S1819P possibly damaging Het
Obsl1 T C 1: 75,482,342 (GRCm39) H176R probably damaging Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Or7g21 A T 9: 19,032,737 (GRCm39) H162L probably benign Het
Or8d2b A G 9: 38,789,359 (GRCm39) T296A probably benign Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Phka1 A G X: 101,584,716 (GRCm39) probably benign Het
Plxnd1 A G 6: 115,939,704 (GRCm39) V1425A probably benign Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Ptpn12 A T 5: 21,203,409 (GRCm39) N456K probably damaging Het
Scarb1 A T 5: 125,364,439 (GRCm39) S97T possibly damaging Het
Scyl1 C T 19: 5,811,749 (GRCm39) D440N possibly damaging Het
Sema5a C A 15: 32,575,065 (GRCm39) T391K probably benign Het
Sipa1l3 T A 7: 29,099,027 (GRCm39) N414I probably damaging Het
Skint6 T C 4: 112,700,019 (GRCm39) probably null Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spib T A 7: 44,178,348 (GRCm39) M141L probably benign Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Taf15 T G 11: 83,388,088 (GRCm39) S200R probably damaging Het
Tanc1 G A 2: 59,667,563 (GRCm39) probably null Het
Tas2r134 A G 2: 51,518,249 (GRCm39) T243A probably benign Het
Tatdn1 A T 15: 58,777,601 (GRCm39) M218K probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbx1 T C 16: 18,400,744 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tmprss11d A G 5: 86,521,208 (GRCm39) Y2H probably benign Het
Trps1 G A 15: 50,685,794 (GRCm39) R544C probably damaging Het
Ttc22 T C 4: 106,496,282 (GRCm39) V444A possibly damaging Het
Ttc28 A G 5: 111,373,869 (GRCm39) T1071A possibly damaging Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Ube2j1 T A 4: 33,049,943 (GRCm39) F257I possibly damaging Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Wwp1 T C 4: 19,638,618 (GRCm39) D575G 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
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
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 PCR Primer
(F):5'- CTTGCTCACTGTGCATTCTAGG -3'
(R):5'- AAAGACTCTCCTGTGCTTGCC -3'

Sequencing Primer
(F):5'- ACTGTGCATTCTAGGCATTCAG -3'
(R):5'- TCCTGTGCTTGCCCTGGAG -3'
Posted On 2014-10-16