Incidental Mutation 'R1860:Abca16'
ID 203797
Institutional Source Beutler Lab
Gene Symbol Abca16
Ensembl Gene ENSMUSG00000051900
Gene Name ATP-binding cassette, sub-family A member 16
Synonyms
MMRRC Submission 039883-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1860 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 120008870-120144036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120133986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1320 (S1320T)
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: S1320T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: S1320T

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: S1321T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: S1321T

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,098 (GRCm39) C587R probably damaging Het
Abra C A 15: 41,732,430 (GRCm39) R212L probably damaging Het
Acadsb T A 7: 131,045,958 (GRCm39) probably null Het
Adam26a A G 8: 44,022,578 (GRCm39) V304A possibly damaging Het
Adgre1 T C 17: 57,748,363 (GRCm39) V521A probably benign Het
Adh5 G A 3: 138,159,539 (GRCm39) V288I probably benign Het
Astn1 A C 1: 158,429,515 (GRCm39) N753T probably damaging Het
Atad2 A T 15: 57,960,114 (GRCm39) probably null Het
Best3 A G 10: 116,829,178 (GRCm39) T153A probably damaging Het
Ccdc122 G A 14: 77,348,847 (GRCm39) V226I probably damaging Het
Ccdc175 T C 12: 72,152,700 (GRCm39) Q735R probably benign Het
Cd19 T A 7: 126,008,813 (GRCm39) I499F probably damaging Het
Cftr T A 6: 18,268,288 (GRCm39) L749H probably benign Het
Clec2h G T 6: 128,652,790 (GRCm39) G186W probably damaging Het
Cpsf3 T A 12: 21,346,733 (GRCm39) I202N probably damaging Het
Crebbp G T 16: 3,905,600 (GRCm39) T1669N possibly damaging Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Cul4a G A 8: 13,173,565 (GRCm39) R204Q probably damaging Het
Derl2 A G 11: 70,909,169 (GRCm39) F43S probably damaging Het
Dnah14 T A 1: 181,591,525 (GRCm39) N3348K probably damaging Het
Dnhd1 T C 7: 105,353,412 (GRCm39) V2855A probably benign Het
Dpysl4 G T 7: 138,670,215 (GRCm39) C27F probably benign Het
Fam228b G A 12: 4,798,314 (GRCm39) A163V probably damaging Het
Fscn1 T C 5: 142,955,818 (GRCm39) probably null Het
Fzd5 C A 1: 64,774,153 (GRCm39) R536L probably damaging Het
Gm8180 T A 14: 44,021,196 (GRCm39) H4L probably benign Het
Gpr176 T A 2: 118,203,659 (GRCm39) N4Y probably damaging Het
Grin3a T C 4: 49,665,309 (GRCm39) I1109V possibly damaging Het
Hcar1 T A 5: 124,017,092 (GRCm39) I200F probably damaging Het
Heatr4 G A 12: 84,026,502 (GRCm39) Q252* probably null Het
Hps1 G A 19: 42,750,888 (GRCm39) H371Y probably damaging Het
Ikzf2 T C 1: 69,609,661 (GRCm39) T195A probably damaging Het
Kdm1b G A 13: 47,202,666 (GRCm39) A34T probably benign Het
Lef1 A G 3: 130,905,290 (GRCm39) N57S probably damaging Het
Ltn1 A T 16: 87,213,231 (GRCm39) D443E probably benign Het
Macroh2a1 A G 13: 56,231,017 (GRCm39) L287P probably damaging Het
Mamdc2 T C 19: 23,336,517 (GRCm39) T331A probably damaging Het
Marchf10 A T 11: 105,287,904 (GRCm39) S133T probably damaging Het
Mb A G 15: 76,901,784 (GRCm39) Y104H probably damaging Het
Mrc1 C A 2: 14,333,390 (GRCm39) P1357Q probably benign Het
Nfib C T 4: 82,241,917 (GRCm39) V425M probably damaging Het
Or12j2 G A 7: 139,916,132 (GRCm39) R119H possibly damaging Het
Or4a27 T G 2: 88,559,674 (GRCm39) I90L probably damaging Het
Or4b1b C A 2: 90,112,502 (GRCm39) C139F probably damaging Het
Or4c127 G A 2: 89,833,490 (GRCm39) V247I probably benign Het
Or4n4 A T 14: 50,518,848 (GRCm39) Y287* probably null Het
Or52u1 T C 7: 104,237,112 (GRCm39) S34P probably damaging Het
Or5b113 T A 19: 13,342,705 (GRCm39) S238T possibly damaging Het
Or5p53 A G 7: 107,533,597 (GRCm39) Y290C probably damaging Het
Or6c208 T C 10: 129,223,955 (GRCm39) F151S probably damaging Het
Or8b51 A T 9: 38,569,661 (GRCm39) V9E probably damaging Het
Phaf1 A G 8: 105,966,703 (GRCm39) E150G probably null Het
Piezo1 T C 8: 123,222,489 (GRCm39) N919S possibly damaging Het
Prkaca T C 8: 84,707,852 (GRCm39) S46P probably benign Het
Prkcb T G 7: 122,167,424 (GRCm39) V378G probably damaging Het
Ptprf A T 4: 118,081,129 (GRCm39) L576Q probably damaging Het
Rapgef4 T C 2: 72,065,064 (GRCm39) V687A probably benign Het
Rsad2 C T 12: 26,500,616 (GRCm39) V224I probably damaging Het
Ryr1 A T 7: 28,708,977 (GRCm39) D4796E unknown Het
Scn1a C T 2: 66,148,326 (GRCm39) S1073N probably damaging Het
Slc26a3 A G 12: 31,515,845 (GRCm39) M582V probably benign Het
Tbc1d32 A T 10: 55,999,633 (GRCm39) Y846* probably null Het
Tbk1 A T 10: 121,383,076 (GRCm39) M719K probably benign Het
Timeless A G 10: 128,081,983 (GRCm39) K536R probably benign Het
Tle6 G T 10: 81,430,163 (GRCm39) Q330K probably damaging Het
Tmem208 A G 8: 106,061,438 (GRCm39) K155E possibly damaging Het
Toe1 T C 4: 116,662,426 (GRCm39) Y273C probably damaging Het
Tppp2 A C 14: 52,158,062 (GRCm39) N169T probably benign Het
Ttll6 T A 11: 96,029,700 (GRCm39) Y204* probably null Het
Ubxn11 G A 4: 133,852,149 (GRCm39) S32N probably damaging Het
Usp8 G A 2: 126,597,960 (GRCm39) C961Y probably damaging Het
Vdac3 A T 8: 23,070,515 (GRCm39) I132K possibly damaging Het
Vmn2r124 G T 17: 18,269,759 (GRCm39) W5L probably benign Het
Vmn2r71 A T 7: 85,264,782 (GRCm39) D38V probably damaging Het
Vmn2r87 C T 10: 130,315,755 (GRCm39) V104I probably benign Het
Vmn2r97 C T 17: 19,167,648 (GRCm39) T634I probably benign Het
Vps50 T C 6: 3,520,279 (GRCm39) probably null Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Ythdc2 T A 18: 45,006,023 (GRCm39) I1172K possibly damaging Het
Zfp14 C T 7: 29,738,116 (GRCm39) V290M probably damaging Het
Zfp317 G A 9: 19,553,280 (GRCm39) A18T possibly damaging Het
Zfp354b A T 11: 50,814,369 (GRCm39) N185K probably benign Het
Zscan21 T A 5: 138,124,892 (GRCm39) D269E 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
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 PCR Primer
(F):5'- GCCAGCCAGAAGTGTGTTTG -3'
(R):5'- TTGTAGAACTGCAGTGAACCAG -3'

Sequencing Primer
(F):5'- CCAGCCAGAAGTGTGTTTGCATATAC -3'
(R):5'- CAGTACAGCCTTGGGTAAATTCCAG -3'
Posted On 2014-06-23