Incidental Mutation 'R2115:Abca16'
ID 233028
Institutional Source Beutler Lab
Gene Symbol Abca16
Ensembl Gene ENSMUSG00000051900
Gene Name ATP-binding cassette, sub-family A member 16
Synonyms
MMRRC Submission 040119-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2115 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120008870-120144036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 120139868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 1510 (E1510A)
Ref Sequence ENSEMBL: ENSMUSP00000061094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056042] [ENSMUST00000120490]
AlphaFold E9PWJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000056042
AA Change: E1510A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: E1510A

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: E1511A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: E1511A

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: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (95/97)
Allele List at MGI

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

Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,900,562 (GRCm39) T1195A probably benign Het
Abca12 A T 1: 71,283,930 (GRCm39) N2547K probably benign Het
Adam5 A G 8: 25,234,161 (GRCm39) probably benign Het
Akna G A 4: 63,313,397 (GRCm39) P242L probably benign Het
Akr1b7 G A 6: 34,395,929 (GRCm39) A144T possibly damaging Het
Ankhd1 T A 18: 36,767,361 (GRCm39) S1167T probably damaging Het
Arf5 C T 6: 28,424,783 (GRCm39) Q71* probably null Het
Ark2n T C 18: 77,762,168 (GRCm39) D48G possibly damaging Het
Arl15 C T 13: 114,104,196 (GRCm39) S111F probably damaging Het
Atxn1l C T 8: 110,459,240 (GRCm39) A341T probably benign Het
Birc7 C A 2: 180,572,642 (GRCm39) Q138K possibly damaging Het
Blvra G T 2: 126,927,989 (GRCm39) E80* probably null Het
Ccdc148 T C 2: 58,892,128 (GRCm39) E188G probably damaging Het
Chad C T 11: 94,459,052 (GRCm39) A318V probably benign Het
Cntfr A G 4: 41,663,534 (GRCm39) probably null Het
Dnah17 C T 11: 118,010,628 (GRCm39) C230Y probably benign Het
Dnmt3l C A 10: 77,899,130 (GRCm39) L110I probably damaging Het
Dusp11 T C 6: 85,935,651 (GRCm39) D74G probably damaging Het
Duxf4 T C 10: 58,072,073 (GRCm39) D47G possibly damaging Het
Eif3m T C 2: 104,837,141 (GRCm39) T61A probably damaging Het
Esyt1 T A 10: 128,357,973 (GRCm39) D212V probably damaging Het
Exoc4 T A 6: 33,324,760 (GRCm39) N351K possibly damaging Het
F13a1 A T 13: 37,172,831 (GRCm39) I183N probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fam83h A T 15: 75,874,146 (GRCm39) Y1064N probably damaging Het
Flrt3 G T 2: 140,503,423 (GRCm39) N68K probably damaging Het
Fut7 C A 2: 25,315,343 (GRCm39) Y153* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm1527 T C 3: 28,972,098 (GRCm39) L405P probably benign Het
Heatr6 T A 11: 83,648,281 (GRCm39) probably benign Het
Herc2 T C 7: 55,835,576 (GRCm39) probably benign Het
Ints14 T G 9: 64,887,077 (GRCm39) L336R probably damaging Het
Irak1 G T X: 73,066,218 (GRCm39) P197Q possibly damaging Het
Kat7 C T 11: 95,194,120 (GRCm39) R60Q probably benign Het
Katnal2 T C 18: 77,067,787 (GRCm39) R385G probably damaging Het
Kcnt2 G T 1: 140,480,701 (GRCm39) L755F probably damaging Het
Kif4 A G X: 99,709,323 (GRCm39) S315G probably benign Het
Kifc3 A G 8: 95,835,341 (GRCm39) Y178H probably damaging Het
Krit1 A T 5: 3,872,108 (GRCm39) R378* probably null Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lama3 C A 18: 12,535,906 (GRCm39) T204N possibly damaging Het
Lama5 A G 2: 179,828,678 (GRCm39) C2090R probably damaging Het
Mb G T 15: 76,906,759 (GRCm39) Q9K probably benign Het
Mipep T C 14: 61,024,829 (GRCm39) V90A probably damaging Het
Myo3a A T 2: 22,250,342 (GRCm39) I70F probably damaging Het
Napa A G 7: 15,848,134 (GRCm39) D217G possibly damaging Het
Nectin2 T C 7: 19,451,489 (GRCm39) D515G probably damaging Het
Nkx2-6 T A 14: 69,409,288 (GRCm39) V13E probably damaging Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Nptx2 G C 5: 144,492,216 (GRCm39) G331A probably damaging Het
Or2q1 A G 6: 42,794,431 (GRCm39) T9A possibly damaging Het
Or4c122 T C 2: 89,079,874 (GRCm39) I55V probably damaging Het
Or5h17 T C 16: 58,820,783 (GRCm39) L245P possibly damaging Het
Or7g34 T C 9: 19,478,618 (GRCm39) T18A probably benign Het
Parp14 T C 16: 35,678,904 (GRCm39) T355A probably benign Het
Pcdh12 T C 18: 38,417,039 (GRCm39) T29A probably damaging Het
Pced1b T A 15: 97,282,505 (GRCm39) C181* probably null Het
Phka1 C T X: 101,653,807 (GRCm39) R290H probably damaging Het
Pick1 T A 15: 79,139,781 (GRCm39) probably benign Het
Pitrm1 A T 13: 6,607,809 (GRCm39) Y268F probably damaging Het
Polr2h T C 16: 20,537,737 (GRCm39) probably benign Het
Ppfia2 A T 10: 106,597,972 (GRCm39) K178N probably damaging Het
Prkag1 T C 15: 98,712,433 (GRCm39) Y133C probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpra G T 2: 130,381,655 (GRCm39) R372L probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Qrich2 A G 11: 116,337,982 (GRCm39) V1887A probably damaging Het
Ralgapa1 T C 12: 55,833,134 (GRCm39) probably null Het
Rassf9 A G 10: 102,380,806 (GRCm39) T63A probably benign Het
Rdh11 G T 12: 79,222,996 (GRCm39) Q292K probably benign Het
Rere C A 4: 150,697,018 (GRCm39) probably benign Het
Rgs18 G T 1: 144,629,629 (GRCm39) T210K possibly damaging Het
Rnf213 A G 11: 119,318,839 (GRCm39) N1099S probably benign Het
Ros1 T C 10: 52,004,651 (GRCm39) I969V probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Rrp12 C T 19: 41,879,533 (GRCm39) V174I probably benign Het
Rtf1 T A 2: 119,535,999 (GRCm39) H184Q probably benign Het
Sbk3 A G 7: 4,970,415 (GRCm39) L318S possibly damaging Het
Scn9a T C 2: 66,314,396 (GRCm39) E1774G probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Sec23ip G A 7: 128,364,185 (GRCm39) V488I probably benign Het
Serpine3 T C 14: 62,910,459 (GRCm39) L184P probably damaging Het
Slc26a2 T C 18: 61,331,896 (GRCm39) T512A possibly damaging Het
Slc49a4 T C 16: 35,518,309 (GRCm39) D468G probably benign Het
Smpd4 T C 16: 17,444,729 (GRCm39) Y118H probably benign Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Ttc33 G A 15: 5,241,534 (GRCm39) V120I probably benign Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Utp20 T C 10: 88,621,865 (GRCm39) D1136G probably benign Het
Vgll1 A C X: 56,137,790 (GRCm39) K53T probably damaging Het
Yars1 T G 4: 129,101,716 (GRCm39) probably null Het
Zfp472 A G 17: 33,196,988 (GRCm39) I354M possibly damaging Het
Zfp786 A G 6: 47,803,931 (GRCm39) V37A 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
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 PCR Primer
(F):5'- CCATTTGCAACTTGGATGGGG -3'
(R):5'- TACTGACTCAGTCCTGGCAG -3'

Sequencing Primer
(F):5'- CAACTTGGATGGGGGTTAACC -3'
(R):5'- GTCCTGGCAGAAATTAATTTCATCC -3'
Posted On 2014-09-18