Incidental Mutation 'R9641:Abca16'
ID 725986
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 # R9641 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 120008870-120144036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120126308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 1156 (C1156R)
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: C1155R

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: C1155R

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: C1156R

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: C1156R

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: 99.8%
  • 20x: 99.3%
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
1700017N19Rik T C 10: 100,430,498 (GRCm39) F52L possibly damaging Het
Abcg3 A C 5: 105,084,483 (GRCm39) S571A probably benign Het
Abi3 C A 11: 95,724,503 (GRCm39) L259F unknown Het
Adam19 A T 11: 46,027,149 (GRCm39) D594V probably damaging Het
Adam34 C T 8: 44,104,076 (GRCm39) S523N probably damaging Het
Adam6b G T 12: 113,454,176 (GRCm39) C331F probably benign Het
Adamts14 A T 10: 61,106,829 (GRCm39) V97E probably damaging Het
Adipor1 T C 1: 134,355,878 (GRCm39) Y226H probably damaging Het
Alox12e T C 11: 70,212,261 (GRCm39) Y139C probably damaging Het
Ankrd53 A G 6: 83,740,692 (GRCm39) D160G possibly damaging Het
Ap1m1 A T 8: 73,003,606 (GRCm39) Y94F probably damaging Het
Arhgef28 A C 13: 98,078,983 (GRCm39) D1314E probably benign Het
Bicc1 A G 10: 70,863,772 (GRCm39) I90T probably benign Het
Celf6 A G 9: 59,485,833 (GRCm39) D58G probably damaging Het
Cfap74 T C 4: 155,549,054 (GRCm39) S38P unknown Het
Cps1 A G 1: 67,234,342 (GRCm39) I910V probably benign Het
Cracdl C T 1: 37,663,592 (GRCm39) A769T possibly damaging Het
Crybg2 C T 4: 133,816,620 (GRCm39) Q1353* probably null Het
Cyp4f39 T C 17: 32,705,982 (GRCm39) Y358H probably damaging Het
Dcp1a T A 14: 30,241,132 (GRCm39) I314N probably damaging Het
Dgki A C 6: 37,126,489 (GRCm39) W164G probably damaging Het
Dnah8 A G 17: 30,932,029 (GRCm39) I1466V probably benign Het
Efcab6 T A 15: 83,763,676 (GRCm39) R1219W probably damaging Het
Faap24 A T 7: 35,094,494 (GRCm39) F102Y probably damaging Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Frem1 C T 4: 82,877,653 (GRCm39) G1308D probably damaging Het
Hectd1 T C 12: 51,816,047 (GRCm39) T1347A probably benign Het
Hipk3 A T 2: 104,267,376 (GRCm39) H620Q probably benign Het
Hpd A G 5: 123,310,052 (GRCm39) S391P probably benign Het
Ino80 A G 2: 119,275,965 (GRCm39) V437A probably benign Het
Itgax G T 7: 127,741,152 (GRCm39) G785C probably damaging Het
Kcnk18 C T 19: 59,223,266 (GRCm39) T137I probably damaging Het
Kif16b A G 2: 142,542,589 (GRCm39) F236L probably benign Het
Lamb1 T C 12: 31,337,457 (GRCm39) M396T probably damaging Het
Lrfn5 C A 12: 61,886,540 (GRCm39) N109K probably damaging Het
Lrrc15 T A 16: 30,093,006 (GRCm39) N111I probably damaging Het
Lrrk2 A T 15: 91,671,251 (GRCm39) I2011F possibly damaging Het
Lsr A G 7: 30,658,285 (GRCm39) I336T probably damaging Het
Mettl21e T A 1: 44,250,351 (GRCm39) R18S probably benign Het
Mrpl22 T C 11: 58,068,047 (GRCm39) L115P probably damaging Het
N4bp2 T A 5: 65,948,035 (GRCm39) S222T probably benign Het
Nat2 A G 8: 67,954,522 (GRCm39) T211A probably benign Het
Nbeal1 T A 1: 60,350,247 (GRCm39) I2432N probably damaging Het
Neb A G 2: 52,112,783 (GRCm39) I1158T Het
Nrip3 C T 7: 109,362,793 (GRCm39) E164K probably damaging Het
Obox6 G A 7: 15,568,742 (GRCm39) Q45* probably null Het
Ola1 T C 2: 73,033,784 (GRCm39) N44D probably benign Het
Or1x6 C T 11: 50,939,207 (GRCm39) T91M probably benign Het
Or2y1c T C 11: 49,361,509 (GRCm39) F177S probably damaging Het
Or5b111 A T 19: 13,291,100 (GRCm39) M183K probably damaging Het
Or5d39 A T 2: 87,980,255 (GRCm39) I36N possibly damaging Het
Or5p81 A T 7: 108,267,516 (GRCm39) N298Y probably damaging Het
Or6ae1 A G 7: 139,742,771 (GRCm39) F31L probably benign Het
Or8b51 T A 9: 38,568,915 (GRCm39) M258L probably benign Het
Pde10a A G 17: 9,197,816 (GRCm39) K753R Het
Phldb1 T C 9: 44,627,839 (GRCm39) D202G probably damaging Het
Pik3cb T C 9: 98,955,789 (GRCm39) N376S probably benign Het
Plekhh2 A G 17: 84,874,130 (GRCm39) N472D probably damaging Het
Ppp4r4 T A 12: 103,567,811 (GRCm39) F708Y probably benign Het
Rnf157 A G 11: 116,303,576 (GRCm39) V12A probably benign Het
Saa3 T C 7: 46,364,494 (GRCm39) I11V probably benign Het
Sall2 T C 14: 52,550,882 (GRCm39) E771G probably damaging Het
Sar1b C T 11: 51,670,573 (GRCm39) T39I probably damaging Het
Scn10a A T 9: 119,445,869 (GRCm39) L1428Q possibly damaging Het
Sema3f A G 9: 107,565,454 (GRCm39) I213T unknown Het
Serpina3m C T 12: 104,360,085 (GRCm39) Q386* probably null Het
Sh3gl3 G A 7: 81,909,370 (GRCm39) G26R probably damaging Het
Shq1 T C 6: 100,550,633 (GRCm39) E435G probably damaging Het
Sidt2 G T 9: 45,864,495 (GRCm39) A78E probably benign Het
Sin3b A G 8: 73,477,187 (GRCm39) Y818C probably damaging Het
Smarca2 C T 19: 26,656,498 (GRCm39) L825F possibly damaging Het
Srgn T A 10: 62,330,884 (GRCm39) M74L probably benign Het
Tbc1d22b A C 17: 29,813,747 (GRCm39) D360A possibly damaging Het
Tbx4 A G 11: 85,803,128 (GRCm39) R335G probably damaging Het
Tmem144 T C 3: 79,734,200 (GRCm39) N168D probably benign Het
Trip11 G A 12: 101,859,957 (GRCm39) Q307* probably null Het
Ttyh2 T C 11: 114,598,516 (GRCm39) Y296H probably damaging Het
Vmn1r236 G T 17: 21,507,043 (GRCm39) V54F probably benign Het
Xrra1 A C 7: 99,561,088 (GRCm39) H443P probably benign Het
Zc3h12a T C 4: 125,014,852 (GRCm39) T211A probably damaging Het
Zfp386 T G 12: 116,023,330 (GRCm39) D349E probably benign Het
Zkscan16 T A 4: 58,956,577 (GRCm39) H286Q probably benign Het
Znrf2 C T 6: 54,861,788 (GRCm39) P233L 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
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
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'- ACTGTGCTCGTTGTAATAATCTCAG -3'
(R):5'- ACTGGTTGCCACTTGTACCC -3'

Sequencing Primer
(F):5'- GGTTCACTTTAAGGCTTGAACTC -3'
(R):5'- TTGATGTAGGCAGCAGTG -3'
Posted On 2022-09-12