Incidental Mutation 'R4937:Abca16'
ID 380472
Institutional Source Beutler Lab
Gene Symbol Abca16
Ensembl Gene ENSMUSG00000051900
Gene Name ATP-binding cassette, sub-family A member 16
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4937 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 120008870-120144036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120126309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1155 (C1155F)
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: C1155F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: C1155F

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: C1156F

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: C1156F

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.3%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,067 (GRCm39) F597S probably benign Het
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Adam26a T C 8: 44,021,918 (GRCm39) D524G probably damaging Het
Adamts20 G C 15: 94,277,656 (GRCm39) H269D probably benign Het
Akap9 T A 5: 4,100,145 (GRCm39) probably null Het
Akt3 T C 1: 176,877,693 (GRCm39) I358M possibly damaging Het
Aldh9a1 G T 1: 167,189,376 (GRCm39) A375S probably damaging Het
Alg2 A G 4: 47,473,974 (GRCm39) S105P probably benign Het
Amph A G 13: 19,288,515 (GRCm39) T335A probably damaging Het
Ank2 C T 3: 126,756,050 (GRCm39) V1056M probably damaging Het
Apoh A G 11: 108,298,204 (GRCm39) D168G probably benign Het
Arfgef3 C T 10: 18,465,454 (GRCm39) A2130T probably damaging Het
Arhgap30 A G 1: 171,230,897 (GRCm39) D218G probably benign Het
Ascc3 C T 10: 50,699,894 (GRCm39) P1906S probably damaging Het
Atp11b T G 3: 35,861,157 (GRCm39) probably null Het
B4galnt2 A G 11: 95,759,255 (GRCm39) V343A probably damaging Het
Barhl1 T C 2: 28,799,785 (GRCm39) Y280C probably damaging Het
Bcar1 A T 8: 112,447,669 (GRCm39) Y103N probably damaging Het
Bid A G 6: 120,872,707 (GRCm39) I150T probably benign Het
Ccdc171 T C 4: 83,467,876 (GRCm39) S74P probably damaging Het
Ccni A T 5: 93,336,113 (GRCm39) probably null Het
Cct8l1 A G 5: 25,721,891 (GRCm39) E202G probably benign Het
Cd200r3 A G 16: 44,774,622 (GRCm39) K212E probably benign Het
Cdh19 A G 1: 110,817,694 (GRCm39) S683P probably damaging Het
Ces2b A T 8: 105,559,413 (GRCm39) H93L probably benign Het
Cimip2b T A 4: 43,427,514 (GRCm39) Q270L possibly damaging Het
Clec4a1 G A 6: 122,907,654 (GRCm39) C114Y probably damaging Het
Dcc G T 18: 71,675,320 (GRCm39) S636* probably null Het
Dcdc2c T C 12: 28,580,472 (GRCm39) D187G possibly damaging Het
Dgkb G T 12: 38,164,657 (GRCm39) E150* probably null Het
Dhx30 A G 9: 109,915,029 (GRCm39) L884P probably damaging Het
Dmwd T G 7: 18,815,228 (GRCm39) probably null Het
Dnah17 T A 11: 117,932,980 (GRCm39) N3593Y probably damaging Het
Dnm2 G A 9: 21,392,633 (GRCm39) S447N probably benign Het
Elk4 G A 1: 131,945,419 (GRCm39) G99D probably damaging Het
Entpd1 A T 19: 40,727,965 (GRCm39) probably benign Het
Fam114a1 T A 5: 65,137,070 (GRCm39) D4E probably damaging Het
Fbln2 A G 6: 91,241,681 (GRCm39) D754G probably damaging Het
Fhip2a T C 19: 57,367,069 (GRCm39) V204A probably benign Het
Foxred2 T C 15: 77,840,035 (GRCm39) N85S probably damaging Het
Fut9 A G 4: 25,799,591 (GRCm39) probably benign Het
Gm1818 G A 12: 48,606,607 (GRCm39) noncoding transcript Het
Gm4894 C A 9: 49,190,000 (GRCm39) Q92K unknown Het
Gpx2 T C 12: 76,839,574 (GRCm39) I141M probably benign Het
Gusb T C 5: 130,024,326 (GRCm39) T476A probably damaging Het
Hmmr G A 11: 40,612,667 (GRCm39) T180I possibly damaging Het
Itgbl1 T C 14: 124,210,780 (GRCm39) Y493H probably benign Het
Klhdc9 G T 1: 171,187,951 (GRCm39) C93* probably null Het
Ldaf1 T C 7: 119,715,535 (GRCm39) S120P probably damaging Het
Lpar3 A G 3: 145,990,506 (GRCm39) K275E probably damaging Het
Lrp1b A G 2: 40,692,897 (GRCm39) probably null Het
Lrrc63 C T 14: 75,322,389 (GRCm39) G572S probably damaging Het
Mapk11 A T 15: 89,030,685 (GRCm39) D98E probably benign Het
Mgat4f T A 1: 134,317,714 (GRCm39) M162K probably benign Het
Net1 G A 13: 3,934,905 (GRCm39) R374W probably damaging Het
Nlrp4g T A 9: 124,354,005 (GRCm38) noncoding transcript Het
Nrap T A 19: 56,335,652 (GRCm39) Y923F probably damaging Het
Or13a20 T A 7: 140,232,534 (GRCm39) M214K probably benign Het
Or4c108 T A 2: 88,803,834 (GRCm39) I134F probably damaging Het
Or6c215 A T 10: 129,637,932 (GRCm39) V154E probably benign Het
Plxnc1 A G 10: 94,677,335 (GRCm39) V964A probably damaging Het
Pmfbp1 A G 8: 110,262,498 (GRCm39) I731V probably benign Het
Polq T A 16: 36,848,274 (GRCm39) S294T probably benign Het
Pomgnt2 T C 9: 121,811,620 (GRCm39) D387G probably benign Het
Pramel25 T C 4: 143,520,407 (GRCm39) V53A possibly damaging Het
Prmt2 G A 10: 76,056,842 (GRCm39) T227I probably damaging Het
Psmd1 T A 1: 86,010,947 (GRCm39) F341I probably damaging Het
Ptpn23 T C 9: 110,221,806 (GRCm39) M127V probably benign Het
Ptprc A G 1: 138,017,238 (GRCm39) F483L probably damaging Het
Rab35 A C 5: 115,778,147 (GRCm39) I38L probably damaging Het
Rapgef6 A G 11: 54,548,143 (GRCm39) T486A probably damaging Het
Rgl3 A T 9: 21,899,004 (GRCm39) C68* probably null Het
Rilpl1 T C 5: 124,653,594 (GRCm39) E189G possibly damaging Het
Rnf217 T C 10: 31,393,520 (GRCm39) I354V probably benign Het
Rspo3 T C 10: 29,382,524 (GRCm39) D50G probably damaging Het
Sbno1 A G 5: 124,512,672 (GRCm39) S1366P possibly damaging Het
Sema3c A G 5: 17,899,684 (GRCm39) D392G probably benign Het
Serpinb9e A T 13: 33,436,935 (GRCm39) Y85F probably benign Het
Shprh C T 10: 11,032,863 (GRCm39) T283I probably benign Het
Sipa1l1 T C 12: 82,388,103 (GRCm39) S110P probably benign Het
Slc16a12 T A 19: 34,652,643 (GRCm39) I168F probably damaging Het
Slc23a3 A G 1: 75,109,268 (GRCm39) S221P probably damaging Het
Slc35b3 A T 13: 39,116,887 (GRCm39) I366K possibly damaging Het
Slc44a5 T C 3: 153,949,252 (GRCm39) probably null Het
Slc5a12 A T 2: 110,450,753 (GRCm39) D316V probably damaging Het
Ssr3 A G 3: 65,299,874 (GRCm39) S29P probably damaging Het
Taf2 G A 15: 54,890,619 (GRCm39) Q1055* probably null Het
Them6 A T 15: 74,593,367 (GRCm39) D75V probably damaging Het
Tom1l2 A G 11: 60,149,744 (GRCm39) S239P probably damaging Het
Tspear A G 10: 77,710,877 (GRCm39) T500A probably damaging Het
Tubgcp6 G A 15: 88,985,752 (GRCm39) A1487V probably damaging Het
Uba7 G A 9: 107,856,190 (GRCm39) V522I possibly damaging Het
Virma C A 4: 11,521,147 (GRCm39) C901* probably null Het
Vmn1r172 A T 7: 23,359,312 (GRCm39) I66F possibly damaging Het
Vmn2r82 A T 10: 79,215,010 (GRCm39) Y331F probably benign Het
Wdr55 G A 18: 36,895,451 (GRCm39) V143I probably benign Het
Zbtb49 A T 5: 38,371,307 (GRCm39) D191E possibly damaging Het
Zfhx4 A G 3: 5,307,071 (GRCm39) H99R probably damaging Het
Zfp1005 C T 2: 150,110,680 (GRCm39) H457Y unknown Het
Zfp560 C T 9: 20,259,263 (GRCm39) C533Y probably damaging Het
Zfp646 C T 7: 127,478,354 (GRCm39) A177V probably benign Het
Zfp653 C T 9: 21,967,074 (GRCm39) E604K 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
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'- AAGGAGCTTAGTTACTGTGCTCG -3'
(R):5'- TGGTTGCCACTTGTACCCAG -3'

Sequencing Primer
(F):5'- GGTTCACTTTAAGGCTTGAACTC -3'
(R):5'- TTGATGTAGGCAGCAGT -3'
Posted On 2016-04-15