Incidental Mutation 'R4828:Abca14'
ID 372585
Institutional Source Beutler Lab
Gene Symbol Abca14
Ensembl Gene ENSMUSG00000062017
Gene Name ATP-binding cassette, sub-family A member 14
Synonyms 1700110B15Rik, 4930539G24Rik
MMRRC Submission 042444-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4828 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119803184-119924575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119815470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 239 (R239S)
Ref Sequence ENSEMBL: ENSMUSP00000081690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084640]
AlphaFold E9Q8F8
Predicted Effect probably damaging
Transcript: ENSMUST00000084640
AA Change: R239S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: R239S

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 463 5.7e-23 PFAM
AAA 548 729 1.59e-10 SMART
Pfam:ABC2_membrane_3 902 1296 1.2e-36 PFAM
AAA 1384 1568 1.33e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143257
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (106/108)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T C 10: 80,442,881 (GRCm39) S240P probably benign Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Alg2 A G 4: 47,471,563 (GRCm39) V415A probably benign Het
Alpk2 T C 18: 65,482,184 (GRCm39) E141G probably benign Het
Ampd1 A C 3: 102,988,413 (GRCm39) T115P probably damaging Het
Ankrd12 A G 17: 66,291,632 (GRCm39) L1267P probably damaging Het
Arfgef3 A T 10: 18,528,441 (GRCm39) S315R probably damaging Het
Atp10d A C 5: 72,396,461 (GRCm39) D222A probably benign Het
B9d1 A G 11: 61,398,461 (GRCm39) E47G probably damaging Het
Bag2 T C 1: 33,785,968 (GRCm39) D118G probably damaging Het
Bnip3l G T 14: 67,246,208 (GRCm39) P9Q probably damaging Het
Casp8ap2 A G 4: 32,639,807 (GRCm39) N287S probably benign Het
Ccdc190 A G 1: 169,761,465 (GRCm39) D189G probably damaging Het
Ccdc88a A G 11: 29,413,210 (GRCm39) K583E probably damaging Het
Cd84 A T 1: 171,700,315 (GRCm39) N144I probably damaging Het
Chrnd A G 1: 87,119,293 (GRCm39) probably benign Het
Clca3b G T 3: 144,550,273 (GRCm39) T224K probably benign Het
Crcp A G 5: 130,088,603 (GRCm39) T119A probably damaging Het
Cul2 T C 18: 3,431,013 (GRCm39) Y596H probably damaging Het
Dip2c T A 13: 9,610,715 (GRCm39) W356R probably damaging Het
Dlc1 T A 8: 37,317,400 (GRCm39) Q425L possibly damaging Het
Dnah7b T A 1: 46,167,272 (GRCm39) V588D possibly damaging Het
Dock4 G T 12: 40,718,436 (GRCm39) G245W probably damaging Het
Dpf3 A G 12: 83,341,273 (GRCm39) I160T possibly damaging Het
Dstyk A G 1: 132,361,875 (GRCm39) T102A probably benign Het
Eif3d A T 15: 77,844,229 (GRCm39) L425* probably null Het
Elac2 A G 11: 64,886,153 (GRCm39) E477G probably damaging Het
Ephb3 G A 16: 21,033,745 (GRCm39) R23H possibly damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Ext2 G A 2: 93,626,112 (GRCm39) T316I probably benign Het
Fbf1 A G 11: 116,039,777 (GRCm39) V694A probably benign Het
Fgg G A 3: 82,915,677 (GRCm39) probably benign Het
Flnb G A 14: 7,919,238 (GRCm38) V1664I probably benign Het
Flnc G A 6: 29,455,166 (GRCm39) D1932N probably damaging Het
Gm1818 A T 12: 48,602,409 (GRCm39) noncoding transcript Het
Gnai1 G A 5: 18,496,470 (GRCm39) S151L probably damaging Het
Golph3l G A 3: 95,499,059 (GRCm39) R67H possibly damaging Het
Grk5 T A 19: 60,976,213 (GRCm39) C42* probably null Het
Herc1 G A 9: 66,404,625 (GRCm39) probably null Het
Hey2 A T 10: 30,710,179 (GRCm39) H191Q possibly damaging Het
Il11 A G 7: 4,779,481 (GRCm39) V8A probably benign Het
Il23r G A 6: 67,408,635 (GRCm39) P402L probably benign Het
Irf5 A G 6: 29,531,140 (GRCm39) N2S probably damaging Het
Lamb1 T C 12: 31,348,929 (GRCm39) Y606H probably benign Het
Larp4b C T 13: 9,220,934 (GRCm39) R650C probably damaging Het
Lrpap1 T C 5: 35,259,765 (GRCm39) E111G possibly damaging Het
Lrrc36 T A 8: 106,181,862 (GRCm39) S388T probably benign Het
Med27 T C 2: 29,267,950 (GRCm39) probably benign Het
Mrc1 T G 2: 14,275,017 (GRCm39) D439E probably damaging Het
Notch4 A T 17: 34,789,034 (GRCm39) E444D probably damaging Het
Nrm G A 17: 36,175,082 (GRCm39) V137I possibly damaging Het
Nxpe5 T A 5: 138,228,795 (GRCm39) L4Q possibly damaging Het
Obscn A G 11: 58,977,496 (GRCm39) V2052A possibly damaging Het
Oc90 A T 15: 65,753,408 (GRCm39) Y304N probably damaging Het
Or13f5 T C 4: 52,826,138 (GRCm39) V247A probably damaging Het
Or52d3 T A 7: 104,229,180 (GRCm39) F109Y possibly damaging Het
Or5p1 T C 7: 107,916,677 (GRCm39) V192A probably benign Het
Or8b101 T C 9: 38,020,036 (GRCm39) I13T probably damaging Het
Or8k1 T A 2: 86,047,877 (GRCm39) H59L possibly damaging Het
Parp10 A T 15: 76,127,281 (GRCm39) I52N probably benign Het
Pdgfrb C A 18: 61,206,315 (GRCm39) R608S probably damaging Het
Pecam1 A G 11: 106,590,634 (GRCm39) C47R probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pkhd1l1 A G 15: 44,392,801 (GRCm39) E1712G possibly damaging Het
Plce1 T C 19: 38,757,943 (GRCm39) I1958T probably damaging Het
Plch2 C T 4: 155,069,092 (GRCm39) R1073Q probably benign Het
Pld5 A C 1: 176,102,433 (GRCm39) I3S probably benign Het
Polr1a T C 6: 71,943,385 (GRCm39) W1207R possibly damaging Het
Polr2m T G 9: 71,391,050 (GRCm39) I51L possibly damaging Het
Ppl G A 16: 4,922,790 (GRCm39) R234C probably damaging Het
Ppp1r42 C T 1: 10,069,636 (GRCm39) R142H probably benign Het
Prokr1 A G 6: 87,558,224 (GRCm39) V387A probably benign Het
Prss23 A T 7: 89,159,108 (GRCm39) Y320* probably null Het
Ptprk A T 10: 28,436,050 (GRCm39) M804L probably damaging Het
Rdh16f2 A G 10: 127,710,823 (GRCm39) S147G probably benign Het
Rgs7bp T C 13: 105,189,532 (GRCm39) H89R possibly damaging Het
Rilpl2 G T 5: 124,607,875 (GRCm39) T115K possibly damaging Het
Rnf212 G A 5: 108,877,334 (GRCm39) S153F probably damaging Het
Rnf213 A G 11: 119,307,455 (GRCm39) D705G possibly damaging Het
Selenbp2 A G 3: 94,611,426 (GRCm39) N379S probably benign Het
Sema3e G A 5: 14,276,654 (GRCm39) V312M probably damaging Het
Sh2d5 T A 4: 137,985,566 (GRCm39) L338Q probably damaging Het
Shank3 A G 15: 89,384,402 (GRCm39) probably benign Het
Skor2 G T 18: 76,948,113 (GRCm39) G612C probably damaging Het
Slc22a16 A G 10: 40,449,636 (GRCm39) Y24C probably damaging Het
Slc4a1ap T A 5: 31,688,053 (GRCm39) Y312* probably null Het
Slc5a7 A T 17: 54,583,827 (GRCm39) F488I probably benign Het
Snrnp200 A G 2: 127,053,527 (GRCm39) D130G probably damaging Het
Sorbs2 T A 8: 46,194,652 (GRCm39) probably benign Het
Tmem91 T G 7: 25,368,803 (GRCm39) T161P probably damaging Het
Tpd52l1 G A 10: 31,222,697 (GRCm39) T99M probably damaging Het
Trps1 A G 15: 50,524,073 (GRCm39) *1036Q probably null Het
Tshr A T 12: 91,504,564 (GRCm39) T501S probably damaging Het
Tubgcp3 T C 8: 12,721,987 (GRCm39) N15S probably benign Het
Unc5b A G 10: 60,608,127 (GRCm39) S669P possibly damaging Het
Zfp970 A G 2: 177,167,146 (GRCm39) E240G probably damaging Het
Other mutations in Abca14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Abca14 APN 7 119,846,076 (GRCm39) missense probably damaging 1.00
IGL00800:Abca14 APN 7 119,854,613 (GRCm39) missense probably benign 0.01
IGL00845:Abca14 APN 7 119,823,174 (GRCm39) splice site probably benign
IGL00897:Abca14 APN 7 119,815,348 (GRCm39) splice site probably benign
IGL01524:Abca14 APN 7 119,852,644 (GRCm39) missense possibly damaging 0.57
IGL01747:Abca14 APN 7 119,877,310 (GRCm39) missense probably benign 0.00
IGL02214:Abca14 APN 7 119,893,398 (GRCm39) missense probably benign 0.09
IGL02215:Abca14 APN 7 119,852,612 (GRCm39) missense probably benign 0.00
IGL02253:Abca14 APN 7 119,807,182 (GRCm39) missense probably benign 0.29
IGL02302:Abca14 APN 7 119,917,968 (GRCm39) splice site probably benign
IGL03391:Abca14 APN 7 119,846,107 (GRCm39) missense probably damaging 1.00
F6893:Abca14 UTSW 7 119,924,261 (GRCm39) missense probably damaging 0.98
R0109:Abca14 UTSW 7 119,917,985 (GRCm39) nonsense probably null
R0109:Abca14 UTSW 7 119,917,985 (GRCm39) nonsense probably null
R0265:Abca14 UTSW 7 119,822,850 (GRCm39) missense probably benign 0.03
R0326:Abca14 UTSW 7 119,823,642 (GRCm39) missense probably damaging 1.00
R0380:Abca14 UTSW 7 119,877,703 (GRCm39) missense probably benign 0.03
R0418:Abca14 UTSW 7 119,806,657 (GRCm39) missense probably damaging 1.00
R0539:Abca14 UTSW 7 119,807,020 (GRCm39) missense probably damaging 1.00
R0574:Abca14 UTSW 7 119,823,720 (GRCm39) missense probably damaging 0.96
R0611:Abca14 UTSW 7 119,851,479 (GRCm39) missense possibly damaging 0.63
R0783:Abca14 UTSW 7 119,893,380 (GRCm39) missense probably damaging 1.00
R0785:Abca14 UTSW 7 119,893,380 (GRCm39) missense probably damaging 1.00
R0863:Abca14 UTSW 7 119,815,453 (GRCm39) missense probably benign 0.03
R1034:Abca14 UTSW 7 119,815,370 (GRCm39) missense probably damaging 1.00
R1056:Abca14 UTSW 7 119,924,295 (GRCm39) missense probably damaging 1.00
R1072:Abca14 UTSW 7 119,811,992 (GRCm39) missense probably benign
R1244:Abca14 UTSW 7 119,815,561 (GRCm39) missense probably benign 0.06
R1255:Abca14 UTSW 7 119,807,016 (GRCm39) missense probably damaging 0.97
R1271:Abca14 UTSW 7 119,924,340 (GRCm39) missense probably damaging 1.00
R1325:Abca14 UTSW 7 119,846,545 (GRCm39) missense probably benign 0.32
R1457:Abca14 UTSW 7 119,888,683 (GRCm39) missense probably benign 0.00
R1467:Abca14 UTSW 7 119,815,405 (GRCm39) missense possibly damaging 0.80
R1467:Abca14 UTSW 7 119,815,405 (GRCm39) missense possibly damaging 0.80
R1494:Abca14 UTSW 7 119,815,524 (GRCm39) missense probably benign 0.00
R1551:Abca14 UTSW 7 119,918,101 (GRCm39) missense probably benign 0.10
R1607:Abca14 UTSW 7 119,850,514 (GRCm39) missense probably damaging 1.00
R1739:Abca14 UTSW 7 119,877,529 (GRCm39) missense probably benign 0.04
R1856:Abca14 UTSW 7 119,877,404 (GRCm39) missense probably damaging 1.00
R1875:Abca14 UTSW 7 119,847,190 (GRCm39) missense possibly damaging 0.78
R1892:Abca14 UTSW 7 119,815,561 (GRCm39) missense probably benign 0.06
R1898:Abca14 UTSW 7 119,850,392 (GRCm39) missense probably damaging 1.00
R1958:Abca14 UTSW 7 119,924,382 (GRCm39) missense probably damaging 0.98
R2018:Abca14 UTSW 7 119,815,408 (GRCm39) missense probably benign 0.00
R2039:Abca14 UTSW 7 119,911,487 (GRCm39) missense probably damaging 0.98
R2060:Abca14 UTSW 7 119,826,741 (GRCm39) nonsense probably null
R2202:Abca14 UTSW 7 119,888,764 (GRCm39) missense probably benign 0.17
R2205:Abca14 UTSW 7 119,846,503 (GRCm39) missense probably damaging 0.98
R2360:Abca14 UTSW 7 119,850,431 (GRCm39) missense probably benign 0.00
R2401:Abca14 UTSW 7 119,882,312 (GRCm39) missense probably damaging 1.00
R2426:Abca14 UTSW 7 119,882,446 (GRCm39) missense probably benign 0.04
R3433:Abca14 UTSW 7 119,893,455 (GRCm39) missense probably damaging 0.97
R4598:Abca14 UTSW 7 119,854,626 (GRCm39) missense probably benign 0.11
R4599:Abca14 UTSW 7 119,854,626 (GRCm39) missense probably benign 0.11
R4700:Abca14 UTSW 7 119,911,928 (GRCm39) critical splice donor site probably null
R4751:Abca14 UTSW 7 119,911,400 (GRCm39) missense probably benign 0.01
R4826:Abca14 UTSW 7 119,815,470 (GRCm39) missense probably damaging 1.00
R4837:Abca14 UTSW 7 119,846,203 (GRCm39) missense probably benign
R4881:Abca14 UTSW 7 119,877,472 (GRCm39) missense possibly damaging 0.49
R4895:Abca14 UTSW 7 119,846,572 (GRCm39) critical splice donor site probably null
R4928:Abca14 UTSW 7 119,923,803 (GRCm39) missense possibly damaging 0.90
R4990:Abca14 UTSW 7 119,911,388 (GRCm39) missense probably benign 0.00
R5027:Abca14 UTSW 7 119,911,505 (GRCm39) missense probably benign 0.05
R5091:Abca14 UTSW 7 119,851,497 (GRCm39) missense probably damaging 1.00
R5158:Abca14 UTSW 7 119,852,652 (GRCm39) missense probably benign
R5209:Abca14 UTSW 7 119,832,130 (GRCm39) missense probably benign 0.01
R5333:Abca14 UTSW 7 119,888,769 (GRCm39) nonsense probably null
R5424:Abca14 UTSW 7 119,810,777 (GRCm39) missense probably benign 0.01
R5488:Abca14 UTSW 7 119,851,473 (GRCm39) missense probably damaging 0.98
R5489:Abca14 UTSW 7 119,851,473 (GRCm39) missense probably damaging 0.98
R5716:Abca14 UTSW 7 119,846,217 (GRCm39) critical splice donor site probably null
R6450:Abca14 UTSW 7 119,815,449 (GRCm39) missense probably benign 0.17
R6477:Abca14 UTSW 7 119,924,325 (GRCm39) missense probably benign 0.44
R6652:Abca14 UTSW 7 119,846,164 (GRCm39) missense probably damaging 1.00
R6782:Abca14 UTSW 7 119,847,308 (GRCm39) missense probably damaging 1.00
R6874:Abca14 UTSW 7 119,851,428 (GRCm39) missense possibly damaging 0.71
R6965:Abca14 UTSW 7 119,882,452 (GRCm39) nonsense probably null
R7142:Abca14 UTSW 7 119,850,406 (GRCm39) missense possibly damaging 0.89
R7146:Abca14 UTSW 7 119,854,520 (GRCm39) missense probably benign 0.15
R7202:Abca14 UTSW 7 119,917,236 (GRCm39) missense probably damaging 1.00
R7220:Abca14 UTSW 7 119,826,667 (GRCm39) missense possibly damaging 0.45
R7241:Abca14 UTSW 7 119,846,184 (GRCm39) missense probably damaging 1.00
R7291:Abca14 UTSW 7 119,888,832 (GRCm39) nonsense probably null
R7296:Abca14 UTSW 7 119,877,534 (GRCm39) missense probably benign
R7298:Abca14 UTSW 7 119,807,106 (GRCm39) missense probably benign 0.00
R7315:Abca14 UTSW 7 119,893,341 (GRCm39) missense probably benign 0.00
R7776:Abca14 UTSW 7 119,832,214 (GRCm39) critical splice donor site probably null
R7820:Abca14 UTSW 7 119,811,944 (GRCm39) missense probably benign 0.42
R7873:Abca14 UTSW 7 119,888,792 (GRCm39) missense probably benign 0.17
R8215:Abca14 UTSW 7 119,893,425 (GRCm39) missense probably benign
R8332:Abca14 UTSW 7 119,815,436 (GRCm39) missense probably benign
R8419:Abca14 UTSW 7 119,815,489 (GRCm39) missense probably benign 0.08
R8444:Abca14 UTSW 7 119,918,133 (GRCm39) missense probably damaging 1.00
R8818:Abca14 UTSW 7 119,815,524 (GRCm39) missense probably benign 0.00
R8834:Abca14 UTSW 7 119,877,372 (GRCm39) missense probably benign 0.02
R8845:Abca14 UTSW 7 119,846,428 (GRCm39) missense probably benign 0.00
R8889:Abca14 UTSW 7 119,815,606 (GRCm39) missense probably damaging 1.00
R8892:Abca14 UTSW 7 119,815,606 (GRCm39) missense probably damaging 1.00
R8894:Abca14 UTSW 7 119,847,368 (GRCm39) missense probably damaging 1.00
R8903:Abca14 UTSW 7 119,815,526 (GRCm39) missense probably damaging 0.98
R8950:Abca14 UTSW 7 119,823,595 (GRCm39) missense possibly damaging 0.92
R8950:Abca14 UTSW 7 119,823,644 (GRCm39) nonsense probably null
R9018:Abca14 UTSW 7 119,918,532 (GRCm39) missense probably damaging 0.98
R9018:Abca14 UTSW 7 119,888,763 (GRCm39) missense probably benign 0.01
R9110:Abca14 UTSW 7 119,831,615 (GRCm39) intron probably benign
R9254:Abca14 UTSW 7 119,807,202 (GRCm39) nonsense probably null
R9376:Abca14 UTSW 7 119,893,438 (GRCm39) missense probably damaging 1.00
R9378:Abca14 UTSW 7 119,807,191 (GRCm39) missense possibly damaging 0.64
R9379:Abca14 UTSW 7 119,807,202 (GRCm39) nonsense probably null
R9388:Abca14 UTSW 7 119,882,261 (GRCm39) missense probably benign 0.01
R9445:Abca14 UTSW 7 119,877,691 (GRCm39) missense probably benign 0.05
R9522:Abca14 UTSW 7 119,847,368 (GRCm39) missense probably null 0.98
R9577:Abca14 UTSW 7 119,810,768 (GRCm39) missense probably benign 0.27
R9627:Abca14 UTSW 7 119,854,530 (GRCm39) missense probably benign 0.00
R9639:Abca14 UTSW 7 119,893,345 (GRCm39) missense probably benign 0.01
R9660:Abca14 UTSW 7 119,851,478 (GRCm39) missense probably benign 0.00
R9696:Abca14 UTSW 7 119,888,734 (GRCm39) missense possibly damaging 0.59
R9709:Abca14 UTSW 7 119,888,739 (GRCm39) nonsense probably null
R9780:Abca14 UTSW 7 119,911,447 (GRCm39) missense probably benign 0.00
Z1088:Abca14 UTSW 7 119,815,358 (GRCm39) missense probably benign 0.14
Z1176:Abca14 UTSW 7 119,846,146 (GRCm39) missense probably damaging 1.00
Z1177:Abca14 UTSW 7 119,917,210 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATCCTGAACTTGACAGTCTCTG -3'
(R):5'- ACACACTATTCTGCTGGCCC -3'

Sequencing Primer
(F):5'- CCTGAACTTGACAGTCTCTGGTTTTG -3'
(R):5'- TCTGCTGGCCCAGAATATTAC -3'
Posted On 2016-03-01