Incidental Mutation 'R4993:Abca15'
ID 385015
Institutional Source Beutler Lab
Gene Symbol Abca15
Ensembl Gene ENSMUSG00000054746
Gene Name ATP-binding cassette, sub-family A member 15
Synonyms 4930500I12Rik
MMRRC Submission 042587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4993 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 119927893-120006910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120000941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1492 (N1492K)
Ref Sequence ENSEMBL: ENSMUSP00000112821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076272] [ENSMUST00000121265]
AlphaFold E9PWH4
Predicted Effect probably damaging
Transcript: ENSMUST00000076272
AA Change: N1492K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: N1492K

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 464 5.7e-21 PFAM
AAA 550 732 9.14e-11 SMART
Pfam:ABC2_membrane_3 892 1293 7.9e-24 PFAM
AAA 1381 1565 1.16e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121265
AA Change: N1492K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: N1492K

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 24 464 2.1e-21 PFAM
AAA 550 732 9.14e-11 SMART
Pfam:ABC2_membrane_3 907 1293 1e-25 PFAM
AAA 1381 1565 1.16e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2

Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
9130008F23Rik G T 17: 41,191,052 (GRCm39) Q126K probably benign Het
Afap1l2 C T 19: 56,906,472 (GRCm39) D402N probably damaging Het
Akap11 A G 14: 78,750,408 (GRCm39) F660L probably damaging Het
Bcl3 T C 7: 19,554,102 (GRCm39) T89A probably benign Het
Bub1b T C 2: 118,467,251 (GRCm39) I858T possibly damaging Het
Cdk19 A G 10: 40,352,214 (GRCm39) D288G possibly damaging Het
Cyp2d34 T A 15: 82,502,530 (GRCm39) D202V probably damaging Het
Dip2c T G 13: 9,625,259 (GRCm39) Y584* probably null Het
Dpf3 A T 12: 83,378,635 (GRCm39) probably null Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Emid1 G T 11: 5,081,512 (GRCm39) Q212K probably benign Het
Esm1 C T 13: 113,349,933 (GRCm39) Q118* probably null Het
Fahd2a T G 2: 127,278,284 (GRCm39) I308L probably benign Het
Fanci T C 7: 79,085,126 (GRCm39) *851Q probably null Het
Fastkd1 C A 2: 69,533,084 (GRCm39) V428F probably damaging Het
Fat2 A T 11: 55,173,918 (GRCm39) I2265N probably damaging Het
Gale C A 4: 135,694,171 (GRCm39) H191Q probably damaging Het
Ghsr T A 3: 27,426,403 (GRCm39) V153E possibly damaging Het
Gpc6 A G 14: 117,861,951 (GRCm39) N289S possibly damaging Het
Hoxb6 A T 11: 96,191,537 (GRCm39) Y153F probably damaging Het
Ints3 T C 3: 90,322,814 (GRCm39) T139A probably benign Het
Irf2bp2 A G 8: 127,319,410 (GRCm39) S256P probably benign Het
Klf4 G T 4: 55,530,640 (GRCm39) P148Q probably damaging Het
Loxl1 T G 9: 58,219,820 (GRCm39) H117P probably damaging Het
Lpl A G 8: 69,348,445 (GRCm39) K225E probably benign Het
Lrba T A 3: 86,267,344 (GRCm39) V1678D probably damaging Het
Med1 A T 11: 98,054,730 (GRCm39) F398Y probably damaging Het
Mfap2 T C 4: 140,742,889 (GRCm39) *186Q probably null Het
Mfsd3 T C 15: 76,586,182 (GRCm39) L105P probably damaging Het
Mlxip T G 5: 123,533,357 (GRCm39) I122S probably damaging Het
Mmrn2 A T 14: 34,118,355 (GRCm39) Y107F probably damaging Het
Mtg1 G T 7: 139,720,196 (GRCm39) D88Y probably null Het
Mutyh T A 4: 116,675,132 (GRCm39) S426R probably benign Het
Myo16 C T 8: 10,526,094 (GRCm39) T878I probably damaging Het
Myo9a T A 9: 59,768,755 (GRCm39) Y912* probably null Het
Ncor1 A C 11: 62,234,167 (GRCm39) I669R probably damaging Het
Ndufs1 T C 1: 63,202,935 (GRCm39) I210V probably benign Het
Nek9 A G 12: 85,357,194 (GRCm39) C657R probably damaging Het
Noct C T 3: 51,157,442 (GRCm39) T260I probably damaging Het
Nr1h4 A T 10: 89,334,042 (GRCm39) M102K probably benign Het
Obscn G A 11: 59,015,587 (GRCm39) R1054C possibly damaging Het
Or10ag58 T A 2: 87,265,496 (GRCm39) F222I probably benign Het
Or1j20 C A 2: 36,760,000 (GRCm39) Q141K probably benign Het
Or2a57 A G 6: 43,213,390 (GRCm39) M283V possibly damaging Het
Or51ah3 T A 7: 103,210,524 (GRCm39) I280N possibly damaging Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or5p75-ps1 G A 7: 108,107,450 (GRCm39) M62I probably damaging Het
Otol1 C A 3: 69,926,211 (GRCm39) Q129K probably benign Het
Otx1 A T 11: 21,948,532 (GRCm39) probably null Het
Pcdhac2 C A 18: 37,279,304 (GRCm39) N761K probably damaging Het
Pde1c A T 6: 56,127,609 (GRCm39) M452K probably damaging Het
Phkg2 T C 7: 127,173,113 (GRCm39) Y24H probably damaging Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prg4 C T 1: 150,336,432 (GRCm39) C97Y probably damaging Het
Ptdss1 T C 13: 67,093,352 (GRCm39) V64A probably benign Het
Ralgapa2 T C 2: 146,289,231 (GRCm39) K324E probably damaging Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Riiad1 T C 3: 94,380,170 (GRCm39) T42A probably benign Het
Rims2 T C 15: 39,317,841 (GRCm39) V640A possibly damaging Het
Rnpep G T 1: 135,190,770 (GRCm39) S592Y possibly damaging Het
Scap T C 9: 110,207,458 (GRCm39) L431P probably damaging Het
Siglec1 T A 2: 130,915,281 (GRCm39) I1437F possibly damaging Het
Skic3 T A 13: 76,331,055 (GRCm39) M1495K probably damaging Het
Skint1 T C 4: 111,885,530 (GRCm39) probably null Het
Slc44a1 A G 4: 53,543,644 (GRCm39) E396G probably damaging Het
Slc4a2 T C 5: 24,639,867 (GRCm39) F521S probably damaging Het
Smarcc1 T A 9: 110,004,129 (GRCm39) S394R probably damaging Het
Socs1 A G 16: 10,602,549 (GRCm39) S63P probably benign Het
Spopfm2 C T 3: 94,083,623 (GRCm39) G63R probably damaging Het
Sun1 T G 5: 139,211,088 (GRCm39) S20A possibly damaging Het
Tac4 A T 11: 95,156,068 (GRCm39) K50* probably null Het
Tasor T A 14: 27,151,071 (GRCm39) W16R possibly damaging Het
Tcaf2 A G 6: 42,619,574 (GRCm39) I151T probably damaging Het
Tcf4 T C 18: 69,814,840 (GRCm39) V587A probably damaging Het
Ttn T A 2: 76,571,253 (GRCm39) K24801* probably null Het
Tuba3b G T 6: 145,566,999 (GRCm39) M413I possibly damaging Het
Ufl1 C T 4: 25,267,832 (GRCm39) A280T possibly damaging Het
Ugt2b5 T A 5: 87,287,532 (GRCm39) I212L probably benign Het
Umodl1 A G 17: 31,205,459 (GRCm39) T685A probably benign Het
Uqcrc1 T A 9: 108,773,878 (GRCm39) V183D probably damaging Het
Ush2a A G 1: 188,642,917 (GRCm39) N4093S probably benign Het
Vmn1r167 C T 7: 23,204,653 (GRCm39) S121N probably damaging Het
Vmn1r47 A G 6: 89,999,740 (GRCm39) S291G possibly damaging Het
Vmn2r108 A G 17: 20,701,449 (GRCm39) V17A probably benign Het
Vmn2r58 T A 7: 41,487,176 (GRCm39) H573L probably benign Het
Xirp1 C T 9: 119,847,858 (GRCm39) V342I probably damaging Het
Zfp462 A G 4: 55,051,204 (GRCm39) M2226V possibly damaging Het
Zfp467 G A 6: 48,415,963 (GRCm39) H230Y probably damaging Het
Zfp595 T A 13: 67,464,465 (GRCm39) K599N probably damaging Het
Zfp819 C A 7: 43,266,720 (GRCm39) T401K probably benign Het
Other mutations in Abca15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Abca15 APN 7 119,996,277 (GRCm39) missense probably damaging 1.00
IGL00505:Abca15 APN 7 119,968,459 (GRCm39) critical splice donor site probably null
IGL00851:Abca15 APN 7 119,939,230 (GRCm39) missense probably damaging 1.00
IGL00985:Abca15 APN 7 119,996,241 (GRCm39) missense probably damaging 1.00
IGL01114:Abca15 APN 7 119,960,643 (GRCm39) missense probably damaging 0.99
IGL01287:Abca15 APN 7 119,932,081 (GRCm39) utr 3 prime probably benign
IGL01333:Abca15 APN 7 119,981,531 (GRCm39) missense probably damaging 1.00
IGL01482:Abca15 APN 7 119,981,969 (GRCm39) missense probably benign 0.00
IGL01610:Abca15 APN 7 119,939,867 (GRCm39) missense probably damaging 0.98
IGL02238:Abca15 APN 7 119,995,829 (GRCm39) missense probably benign 0.02
IGL02377:Abca15 APN 7 119,965,133 (GRCm39) splice site probably benign
IGL02666:Abca15 APN 7 119,934,431 (GRCm39) missense probably damaging 1.00
IGL02836:Abca15 APN 7 119,987,439 (GRCm39) missense probably benign
IGL03337:Abca15 APN 7 119,995,930 (GRCm39) missense probably benign 0.24
IGL03354:Abca15 APN 7 119,993,711 (GRCm39) nonsense probably null
H8562:Abca15 UTSW 7 119,974,077 (GRCm39) splice site probably benign
IGL03098:Abca15 UTSW 7 119,987,499 (GRCm39) splice site probably null
R0029:Abca15 UTSW 7 119,945,225 (GRCm39) missense probably benign 0.01
R0029:Abca15 UTSW 7 119,945,225 (GRCm39) missense probably benign 0.01
R0076:Abca15 UTSW 7 119,972,908 (GRCm39) splice site probably benign
R0165:Abca15 UTSW 7 119,950,126 (GRCm39) splice site probably benign
R0311:Abca15 UTSW 7 120,002,127 (GRCm39) missense probably damaging 0.98
R0387:Abca15 UTSW 7 119,932,075 (GRCm39) critical splice donor site probably null
R0610:Abca15 UTSW 7 119,965,009 (GRCm39) missense possibly damaging 0.75
R0612:Abca15 UTSW 7 119,936,478 (GRCm39) missense probably damaging 1.00
R0704:Abca15 UTSW 7 119,953,746 (GRCm39) missense probably damaging 0.98
R0890:Abca15 UTSW 7 119,972,936 (GRCm39) missense probably benign 0.01
R0961:Abca15 UTSW 7 119,960,208 (GRCm39) nonsense probably null
R1144:Abca15 UTSW 7 119,960,083 (GRCm39) splice site probably benign
R1412:Abca15 UTSW 7 119,944,546 (GRCm39) missense possibly damaging 0.93
R1419:Abca15 UTSW 7 119,974,125 (GRCm39) missense probably benign 0.10
R1467:Abca15 UTSW 7 119,939,761 (GRCm39) splice site probably null
R1467:Abca15 UTSW 7 119,939,761 (GRCm39) splice site probably null
R1469:Abca15 UTSW 7 119,981,720 (GRCm39) missense probably benign 0.00
R1469:Abca15 UTSW 7 119,981,720 (GRCm39) missense probably benign 0.00
R1493:Abca15 UTSW 7 119,981,513 (GRCm39) missense probably benign 0.00
R1513:Abca15 UTSW 7 119,939,322 (GRCm39) missense probably damaging 0.96
R1702:Abca15 UTSW 7 119,981,925 (GRCm39) missense probably benign 0.10
R1857:Abca15 UTSW 7 119,960,592 (GRCm39) missense probably damaging 1.00
R1893:Abca15 UTSW 7 119,939,776 (GRCm39) missense possibly damaging 0.85
R1901:Abca15 UTSW 7 119,945,322 (GRCm39) missense probably damaging 1.00
R1951:Abca15 UTSW 7 119,960,655 (GRCm39) missense probably damaging 1.00
R1953:Abca15 UTSW 7 119,960,655 (GRCm39) missense probably damaging 1.00
R1962:Abca15 UTSW 7 119,940,468 (GRCm39) missense probably damaging 1.00
R2063:Abca15 UTSW 7 119,960,127 (GRCm39) missense possibly damaging 0.61
R2141:Abca15 UTSW 7 120,006,697 (GRCm39) missense probably damaging 1.00
R2145:Abca15 UTSW 7 119,953,701 (GRCm39) missense probably benign 0.08
R2182:Abca15 UTSW 7 119,939,450 (GRCm39) nonsense probably null
R2425:Abca15 UTSW 7 119,959,033 (GRCm39) missense probably damaging 1.00
R2444:Abca15 UTSW 7 119,965,120 (GRCm39) missense probably damaging 1.00
R3023:Abca15 UTSW 7 119,982,002 (GRCm39) missense probably benign 0.40
R3079:Abca15 UTSW 7 119,984,392 (GRCm39) missense probably damaging 1.00
R3106:Abca15 UTSW 7 119,995,856 (GRCm39) missense possibly damaging 0.63
R3622:Abca15 UTSW 7 119,950,036 (GRCm39) nonsense probably null
R4085:Abca15 UTSW 7 119,981,949 (GRCm39) missense probably damaging 1.00
R4233:Abca15 UTSW 7 120,002,202 (GRCm39) nonsense probably null
R4591:Abca15 UTSW 7 119,981,636 (GRCm39) missense probably damaging 1.00
R4612:Abca15 UTSW 7 119,934,384 (GRCm39) missense probably benign 0.03
R4721:Abca15 UTSW 7 119,949,998 (GRCm39) missense probably benign 0.01
R4838:Abca15 UTSW 7 119,944,523 (GRCm39) missense probably benign 0.00
R4940:Abca15 UTSW 7 119,931,917 (GRCm39) missense probably benign
R4963:Abca15 UTSW 7 119,960,142 (GRCm39) missense probably damaging 1.00
R5022:Abca15 UTSW 7 119,945,319 (GRCm39) missense probably damaging 0.98
R5030:Abca15 UTSW 7 119,939,224 (GRCm39) missense probably damaging 1.00
R5072:Abca15 UTSW 7 120,006,198 (GRCm39) missense probably damaging 1.00
R5090:Abca15 UTSW 7 119,984,422 (GRCm39) missense probably damaging 1.00
R5309:Abca15 UTSW 7 119,944,592 (GRCm39) missense probably damaging 0.96
R5310:Abca15 UTSW 7 119,931,839 (GRCm39) missense possibly damaging 0.46
R5312:Abca15 UTSW 7 119,944,592 (GRCm39) missense probably damaging 0.96
R5482:Abca15 UTSW 7 119,968,370 (GRCm39) missense probably damaging 1.00
R5596:Abca15 UTSW 7 120,000,972 (GRCm39) missense possibly damaging 0.94
R5853:Abca15 UTSW 7 119,939,806 (GRCm39) missense probably benign 0.00
R5950:Abca15 UTSW 7 119,981,879 (GRCm39) missense probably damaging 1.00
R5953:Abca15 UTSW 7 119,960,241 (GRCm39) missense probably damaging 1.00
R6072:Abca15 UTSW 7 119,987,481 (GRCm39) missense probably damaging 0.98
R6131:Abca15 UTSW 7 119,939,428 (GRCm39) missense probably benign 0.03
R6132:Abca15 UTSW 7 119,960,643 (GRCm39) missense probably benign 0.14
R6136:Abca15 UTSW 7 119,939,272 (GRCm39) missense possibly damaging 0.81
R6207:Abca15 UTSW 7 119,973,017 (GRCm39) missense probably benign 0.01
R6315:Abca15 UTSW 7 119,945,315 (GRCm39) missense probably damaging 1.00
R6417:Abca15 UTSW 7 119,996,351 (GRCm39) missense possibly damaging 0.95
R6420:Abca15 UTSW 7 119,996,351 (GRCm39) missense possibly damaging 0.95
R6595:Abca15 UTSW 7 119,993,710 (GRCm39) missense probably benign 0.00
R6653:Abca15 UTSW 7 119,945,229 (GRCm39) missense probably benign 0.03
R6859:Abca15 UTSW 7 120,002,217 (GRCm39) nonsense probably null
R6983:Abca15 UTSW 7 119,953,686 (GRCm39) missense probably benign 0.26
R7127:Abca15 UTSW 7 119,931,825 (GRCm39) missense probably benign 0.06
R7205:Abca15 UTSW 7 119,993,587 (GRCm39) missense possibly damaging 0.89
R7336:Abca15 UTSW 7 119,987,456 (GRCm39) missense possibly damaging 0.66
R7426:Abca15 UTSW 7 119,945,221 (GRCm39) missense possibly damaging 0.88
R7745:Abca15 UTSW 7 119,931,440 (GRCm39) missense probably damaging 1.00
R7751:Abca15 UTSW 7 119,965,044 (GRCm39) missense possibly damaging 0.72
R7806:Abca15 UTSW 7 119,932,059 (GRCm39) missense probably damaging 0.96
R8042:Abca15 UTSW 7 120,002,233 (GRCm39) missense possibly damaging 0.95
R8098:Abca15 UTSW 7 119,960,619 (GRCm39) missense probably benign 0.09
R8153:Abca15 UTSW 7 119,999,812 (GRCm39) missense probably damaging 1.00
R8247:Abca15 UTSW 7 119,936,445 (GRCm39) missense possibly damaging 0.83
R8259:Abca15 UTSW 7 119,939,422 (GRCm39) missense probably benign 0.00
R8272:Abca15 UTSW 7 120,006,665 (GRCm39) missense probably damaging 1.00
R8295:Abca15 UTSW 7 119,974,188 (GRCm39) missense probably benign 0.00
R8757:Abca15 UTSW 7 120,006,631 (GRCm39) missense probably damaging 0.96
R8759:Abca15 UTSW 7 120,006,631 (GRCm39) missense probably damaging 0.96
R8905:Abca15 UTSW 7 119,960,771 (GRCm39) missense probably benign 0.28
R9145:Abca15 UTSW 7 119,987,388 (GRCm39) missense probably benign 0.13
R9217:Abca15 UTSW 7 119,987,439 (GRCm39) missense probably benign
R9264:Abca15 UTSW 7 120,001,056 (GRCm39) missense probably benign 0.14
R9517:Abca15 UTSW 7 119,987,424 (GRCm39) missense probably benign 0.07
RF018:Abca15 UTSW 7 119,993,683 (GRCm39) missense possibly damaging 0.50
Z1176:Abca15 UTSW 7 119,981,728 (GRCm39) missense probably damaging 0.99
Z1176:Abca15 UTSW 7 119,945,249 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TGCATGAACAGATGTGCTTGG -3'
(R):5'- ACCATAATTCTTGCCAACTCTTGAC -3'

Sequencing Primer
(F):5'- CATGAACAGATGTGCTTGGACCTG -3'
(R):5'- TCTTGACCGAGCCTTCCAAAGAG -3'
Posted On 2016-05-10