Incidental Mutation 'R9643:Abca16'
ID 726658
Institutional Source Beutler Lab
Gene Symbol Abca16
Ensembl Gene ENSMUSG00000051900
Gene Name ATP-binding cassette, sub-family A member 16
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9643 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 120008870-120144036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120065023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 560 (T560I)
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: T559I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: T559I

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: T560I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: T560I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,211,189 (GRCm39) D641G possibly damaging Het
4921539E11Rik T C 4: 103,092,666 (GRCm39) E272G unknown Het
Adcy3 A G 12: 4,259,455 (GRCm39) R911G probably damaging Het
Adgra2 A G 8: 27,612,031 (GRCm39) T1327A possibly damaging Het
Aldh9a1 T C 1: 167,184,904 (GRCm39) V272A possibly damaging Het
Ankfn1 T A 11: 89,396,167 (GRCm39) H193L probably benign Het
Asb1 A G 1: 91,480,116 (GRCm39) R280G probably benign Het
Atg14 G T 14: 47,788,780 (GRCm39) A191E probably damaging Het
Bcl9 G T 3: 97,112,960 (GRCm39) P1165Q possibly damaging Het
Cdk8 G A 5: 146,235,664 (GRCm39) A264T probably damaging Het
Cep152 G A 2: 125,406,150 (GRCm39) Q1461* probably null Het
Cep170b G T 12: 112,704,045 (GRCm39) W659L probably damaging Het
Cep57l1 T C 10: 41,597,626 (GRCm39) E335G probably damaging Het
Cpt1b T A 15: 89,303,229 (GRCm39) T609S possibly damaging Het
Cyp2c50 A T 19: 40,086,512 (GRCm39) I359F probably damaging Het
Dpf1 T A 7: 29,013,742 (GRCm39) N272K probably damaging Het
Fsip2 A G 2: 82,821,984 (GRCm39) T5906A possibly damaging Het
Gin1 A T 1: 97,712,498 (GRCm39) R220S probably benign Het
Gm30083 T C 14: 33,736,861 (GRCm39) Y32C probably benign Het
Gm45861 A G 8: 27,994,083 (GRCm39) E445G unknown Het
Golga2 T C 2: 32,193,874 (GRCm39) S567P probably damaging Het
Gpr89 A G 3: 96,780,813 (GRCm39) V353A probably damaging Het
Grin2d T C 7: 45,506,948 (GRCm39) K509R possibly damaging Het
Hip1r T C 5: 124,139,319 (GRCm39) I904T probably damaging Het
Ikbke T A 1: 131,187,022 (GRCm39) probably null Het
Il1r1 T A 1: 40,341,532 (GRCm39) C315S probably damaging Het
Ireb2 T A 9: 54,789,730 (GRCm39) F135I possibly damaging Het
Jakmip3 C T 7: 138,621,915 (GRCm39) L272F probably damaging Het
Kntc1 T A 5: 123,949,440 (GRCm39) F1937Y probably damaging Het
Krtap4-16 G A 11: 99,742,271 (GRCm39) T43I unknown Het
Lats2 A G 14: 57,936,875 (GRCm39) V538A possibly damaging Het
Megf8 T A 7: 25,046,907 (GRCm39) W1597R probably damaging Het
Mideas A T 12: 84,219,885 (GRCm39) D356E probably benign Het
Mtus2 A T 5: 148,014,025 (GRCm39) T273S probably benign Het
Nsun6 T A 2: 15,047,106 (GRCm39) E81D probably benign Het
Or13c7 G A 4: 43,855,183 (GRCm39) M291I probably benign Het
Or4c125 A T 2: 89,170,517 (GRCm39) I43K probably damaging Het
Or56a41 A G 7: 104,740,445 (GRCm39) F134L probably benign Het
Or8c10 A G 9: 38,278,912 (GRCm39) I13M probably damaging Het
Or8k23 A G 2: 86,186,408 (GRCm39) F106S probably benign Het
Oxsm T C 14: 16,241,000 (GRCm38) T350A probably damaging Het
Pard3 G A 8: 128,115,900 (GRCm39) R663Q possibly damaging Het
Pcdh15 T A 10: 74,479,335 (GRCm39) I482N probably benign Het
Pcsk2 G A 2: 143,655,501 (GRCm39) D562N probably damaging Het
Pdzk1ip1 T C 4: 114,950,177 (GRCm39) M146T probably benign Het
Plch1 T A 3: 63,660,747 (GRCm39) T279S Het
Plec C T 15: 76,058,177 (GRCm39) R3920Q probably damaging Het
Polr2g A T 19: 8,774,631 (GRCm39) V84E probably damaging Het
Ppm1m C T 9: 106,075,104 (GRCm39) R147H probably damaging Het
Ppp2r2c G T 5: 37,080,383 (GRCm39) V48L probably damaging Het
Pramel25 T A 4: 143,521,855 (GRCm39) C490* probably null Het
Prcp A T 7: 92,524,598 (GRCm39) T18S probably benign Het
Rapsn A G 2: 90,872,268 (GRCm39) S201G probably damaging Het
Rragd A G 4: 33,012,998 (GRCm39) T332A probably benign Het
Scrn2 A G 11: 96,921,342 (GRCm39) D34G probably damaging Het
Serpinb6c T C 13: 34,079,303 (GRCm39) T130A probably benign Het
Setd1b G A 5: 123,298,401 (GRCm39) G1479D probably damaging Het
Shd T A 17: 56,283,268 (GRCm39) L299Q probably damaging Het
Slc5a4b C T 10: 75,945,896 (GRCm39) V55I probably benign Het
Smg1 C A 7: 117,755,933 (GRCm39) R2405L unknown Het
Stxbp2 A T 8: 3,686,392 (GRCm39) M332L Het
Tedc2 A G 17: 24,435,328 (GRCm39) C354R probably benign Het
Tek A T 4: 94,692,523 (GRCm39) R210S possibly damaging Het
Tnk2 T A 16: 32,489,018 (GRCm39) M286K probably damaging Het
Ttc21a G A 9: 119,771,686 (GRCm39) V162I probably benign Het
Usf3 T A 16: 44,042,170 (GRCm39) C2217S possibly damaging Het
Wdr72 C T 9: 74,118,041 (GRCm39) P930S probably damaging Het
Zan A G 5: 137,456,812 (GRCm39) V1308A unknown Het
Zfp521 C T 18: 13,978,922 (GRCm39) R497Q probably damaging Het
Zfp799 T A 17: 33,039,435 (GRCm39) K277M probably damaging Het
Zfp949 C T 9: 88,436,500 (GRCm39) 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
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
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'- GCTAGCATGTGTTGGATGATATAAG -3'
(R):5'- GAGTACTTTGGTTCAAATAGTACGG -3'

Sequencing Primer
(F):5'- GCATGTGTTGGATGATATAAGTACAG -3'
(R):5'- CCCATAGACTCATGTGTGAATGC -3'
Posted On 2022-10-06