Incidental Mutation 'IGL02215:Abca14'
ID284835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca14
Ensembl Gene ENSMUSG00000062017
Gene NameATP-binding cassette, sub-family A (ABC1), member 14
Synonyms1700110B15Rik, 4930539G24Rik
Accession Numbers

Genbank: NM_026458; MGI: 2388708

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02215
Quality Score
Status
Chromosome7
Chromosomal Location120203961-120325352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120253389 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 859 (M859K)
Ref Sequence ENSEMBL: ENSMUSP00000081690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084640]
Predicted Effect probably benign
Transcript: ENSMUST00000084640
AA Change: M859K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: M859K

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: ENSMUST00000143257
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,573 S378R probably benign Het
Adamts13 C T 2: 26,985,483 P462S probably damaging Het
Apol7a G T 15: 77,393,490 D19E possibly damaging Het
Armc8 T C 9: 99,483,978 N628D possibly damaging Het
Astn2 T A 4: 66,266,234 I209F unknown Het
Atp10b T C 11: 43,194,665 probably null Het
C4b C T 17: 34,734,491 C1006Y probably damaging Het
Capn13 A G 17: 73,330,998 L470P probably damaging Het
Col4a4 T C 1: 82,453,809 R1585G unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd3 C T 15: 47,585,688 V3637M probably damaging Het
Dgki C T 6: 37,016,675 D584N probably damaging Het
Dmrt2 T C 19: 25,678,134 S366P probably damaging Het
Dmtf1 A C 5: 9,136,070 L172R probably damaging Het
Efhc2 A G X: 17,230,578 F177L probably damaging Het
Enpep T A 3: 129,270,277 probably benign Het
Enpp6 A T 8: 47,065,932 D245V probably damaging Het
Fam199x T A X: 137,062,650 probably benign Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Gas7 A G 11: 67,643,332 H86R probably benign Het
Gcc2 A G 10: 58,271,636 N862S probably benign Het
Gstm7 T C 3: 107,930,278 D115G possibly damaging Het
Gtse1 C A 15: 85,862,598 P205Q possibly damaging Het
Herc4 G A 10: 63,273,566 M193I probably benign Het
Hist1h2ba A T 13: 23,934,110 F16Y probably benign Het
Igfl3 T A 7: 18,179,838 C38S possibly damaging Het
Il18rap G A 1: 40,547,922 D455N probably damaging Het
Ints8 A G 4: 11,209,244 I932T probably damaging Het
Itgbl1 A C 14: 123,972,141 I311L probably benign Het
Jmjd1c A T 10: 67,220,322 H794L probably damaging Het
Kif1a A G 1: 93,020,549 S1542P probably benign Het
Klc3 T A 7: 19,395,825 N373I probably damaging Het
Lcn2 T C 2: 32,384,865 *201W probably null Het
Ldhb A T 6: 142,495,566 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Npat T A 9: 53,559,117 S348T probably benign Het
Pclo A T 5: 14,856,985 D5001V unknown Het
Peg3 C A 7: 6,709,011 A1071S probably benign Het
Piwil2 A T 14: 70,391,373 D731E possibly damaging Het
Prss41 T A 17: 23,843,856 D35V probably benign Het
Ptprz1 T A 6: 22,965,182 D159E possibly damaging Het
Rabep1 C T 11: 70,923,197 Q571* probably null Het
Scn8a A G 15: 101,029,572 probably null Het
Sipa1l2 G A 8: 125,447,837 T1234I possibly damaging Het
Slc5a10 T A 11: 61,673,912 M414L probably benign Het
Smg5 T C 3: 88,352,998 S632P possibly damaging Het
Smim15 A G 13: 108,047,514 D18G probably benign Het
Sorl1 T A 9: 42,018,182 I1132F probably damaging Het
Spatc1 T C 15: 76,283,539 probably benign Het
Sytl2 A T 7: 90,381,214 probably benign Het
Tesc A G 5: 118,061,618 D195G probably damaging Het
Tmem39b T A 4: 129,692,518 probably null Het
Vmn2r52 A G 7: 10,171,102 V270A probably damaging Het
Wdr3 C A 3: 100,146,700 probably null Het
Other mutations in Abca14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Abca14 APN 7 120246853 missense probably damaging 1.00
IGL00800:Abca14 APN 7 120255390 missense probably benign 0.01
IGL00845:Abca14 APN 7 120223951 splice site probably benign
IGL00897:Abca14 APN 7 120216125 splice site probably benign
IGL01524:Abca14 APN 7 120253421 missense possibly damaging 0.57
IGL01747:Abca14 APN 7 120278087 missense probably benign 0.00
IGL02214:Abca14 APN 7 120294175 missense probably benign 0.09
IGL02253:Abca14 APN 7 120207959 missense probably benign 0.29
IGL02302:Abca14 APN 7 120318745 splice site probably benign
IGL03391:Abca14 APN 7 120246884 missense probably damaging 1.00
F6893:Abca14 UTSW 7 120325038 missense probably damaging 0.98
R0109:Abca14 UTSW 7 120318762 nonsense probably null
R0109:Abca14 UTSW 7 120318762 nonsense probably null
R0265:Abca14 UTSW 7 120223627 missense probably benign 0.03
R0326:Abca14 UTSW 7 120224419 missense probably damaging 1.00
R0380:Abca14 UTSW 7 120278480 missense probably benign 0.03
R0418:Abca14 UTSW 7 120207434 missense probably damaging 1.00
R0539:Abca14 UTSW 7 120207797 missense probably damaging 1.00
R0574:Abca14 UTSW 7 120224497 missense probably damaging 0.96
R0611:Abca14 UTSW 7 120252256 missense possibly damaging 0.63
R0783:Abca14 UTSW 7 120294157 missense probably damaging 1.00
R0785:Abca14 UTSW 7 120294157 missense probably damaging 1.00
R0863:Abca14 UTSW 7 120216230 missense probably benign 0.03
R1034:Abca14 UTSW 7 120216147 missense probably damaging 1.00
R1056:Abca14 UTSW 7 120325072 missense probably damaging 1.00
R1072:Abca14 UTSW 7 120212769 missense probably benign
R1244:Abca14 UTSW 7 120216338 missense probably benign 0.06
R1255:Abca14 UTSW 7 120207793 missense probably damaging 0.97
R1271:Abca14 UTSW 7 120325117 missense probably damaging 1.00
R1325:Abca14 UTSW 7 120247322 missense probably benign 0.32
R1457:Abca14 UTSW 7 120289460 missense probably benign 0.00
R1467:Abca14 UTSW 7 120216182 missense possibly damaging 0.80
R1467:Abca14 UTSW 7 120216182 missense possibly damaging 0.80
R1494:Abca14 UTSW 7 120216301 missense probably benign 0.00
R1551:Abca14 UTSW 7 120318878 missense probably benign 0.10
R1607:Abca14 UTSW 7 120251291 missense probably damaging 1.00
R1739:Abca14 UTSW 7 120278306 missense probably benign 0.04
R1856:Abca14 UTSW 7 120278181 missense probably damaging 1.00
R1875:Abca14 UTSW 7 120247967 missense possibly damaging 0.78
R1892:Abca14 UTSW 7 120216338 missense probably benign 0.06
R1898:Abca14 UTSW 7 120251169 missense probably damaging 1.00
R1958:Abca14 UTSW 7 120325159 missense probably damaging 0.98
R2018:Abca14 UTSW 7 120216185 missense probably benign 0.00
R2039:Abca14 UTSW 7 120312264 missense probably damaging 0.98
R2060:Abca14 UTSW 7 120227518 nonsense probably null
R2202:Abca14 UTSW 7 120289541 missense probably benign 0.17
R2205:Abca14 UTSW 7 120247280 missense probably damaging 0.98
R2360:Abca14 UTSW 7 120251208 missense probably benign 0.00
R2401:Abca14 UTSW 7 120283089 missense probably damaging 1.00
R2426:Abca14 UTSW 7 120283223 missense probably benign 0.04
R3433:Abca14 UTSW 7 120294232 missense probably damaging 0.97
R4598:Abca14 UTSW 7 120255403 missense probably benign 0.11
R4599:Abca14 UTSW 7 120255403 missense probably benign 0.11
R4700:Abca14 UTSW 7 120312705 critical splice donor site probably null
R4751:Abca14 UTSW 7 120312177 missense probably benign 0.01
R4826:Abca14 UTSW 7 120216247 missense probably damaging 1.00
R4828:Abca14 UTSW 7 120216247 missense probably damaging 1.00
R4837:Abca14 UTSW 7 120246980 missense probably benign
R4881:Abca14 UTSW 7 120278249 missense possibly damaging 0.49
R4895:Abca14 UTSW 7 120247349 critical splice donor site probably null
R4928:Abca14 UTSW 7 120324580 missense possibly damaging 0.90
R4990:Abca14 UTSW 7 120312165 missense probably benign 0.00
R5027:Abca14 UTSW 7 120312282 missense probably benign 0.05
R5091:Abca14 UTSW 7 120252274 missense probably damaging 1.00
R5158:Abca14 UTSW 7 120253429 missense probably benign
R5209:Abca14 UTSW 7 120232907 missense probably benign 0.01
R5333:Abca14 UTSW 7 120289546 nonsense probably null
R5424:Abca14 UTSW 7 120211554 missense probably benign 0.01
R5488:Abca14 UTSW 7 120252250 missense probably damaging 0.98
R5489:Abca14 UTSW 7 120252250 missense probably damaging 0.98
R5716:Abca14 UTSW 7 120246994 critical splice donor site probably null
R6450:Abca14 UTSW 7 120216226 missense probably benign 0.17
R6477:Abca14 UTSW 7 120325102 missense probably benign 0.44
R6652:Abca14 UTSW 7 120246941 missense probably damaging 1.00
R6782:Abca14 UTSW 7 120248085 missense probably damaging 1.00
R6874:Abca14 UTSW 7 120252205 missense possibly damaging 0.71
R6965:Abca14 UTSW 7 120283229 nonsense probably null
R7142:Abca14 UTSW 7 120251183 missense possibly damaging 0.89
R7146:Abca14 UTSW 7 120255297 missense probably benign 0.15
R7202:Abca14 UTSW 7 120318013 missense probably damaging 1.00
R7220:Abca14 UTSW 7 120227444 missense possibly damaging 0.45
R7241:Abca14 UTSW 7 120246961 missense probably damaging 1.00
R7291:Abca14 UTSW 7 120289609 nonsense probably null
R7296:Abca14 UTSW 7 120278311 missense probably benign
R7298:Abca14 UTSW 7 120207883 missense probably benign 0.00
R7315:Abca14 UTSW 7 120294118 missense probably benign 0.00
R7776:Abca14 UTSW 7 120232991 critical splice donor site probably null
R7820:Abca14 UTSW 7 120212721 missense probably benign 0.42
R7873:Abca14 UTSW 7 120289569 missense probably benign 0.17
R8215:Abca14 UTSW 7 120294202 missense probably benign
R8332:Abca14 UTSW 7 120216213 missense probably benign
R8419:Abca14 UTSW 7 120216266 missense probably benign 0.08
R8444:Abca14 UTSW 7 120318910 missense probably damaging 1.00
R8818:Abca14 UTSW 7 120216301 missense probably benign 0.00
R8834:Abca14 UTSW 7 120278149 missense probably benign 0.02
R8845:Abca14 UTSW 7 120247205 missense probably benign 0.00
Z1088:Abca14 UTSW 7 120216135 missense probably benign 0.14
Z1176:Abca14 UTSW 7 120246923 missense probably damaging 1.00
Z1177:Abca14 UTSW 7 120317987 missense probably damaging 1.00
Posted On2015-04-16