Incidental Mutation 'IGL02508:AI429214'
ID296451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI429214
Ensembl Gene ENSMUSG00000074384
Gene Nameexpressed sequence AI429214
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02508
Quality Score
Status
Chromosome8
Chromosomal Location36993604-36995533 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 36994086 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 129 (D129E)
Ref Sequence ENSEMBL: ENSMUSP00000096424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098825]
Predicted Effect probably benign
Transcript: ENSMUST00000098825
AA Change: D129E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384
AA Change: D129E

DomainStartEndE-ValueType
low complexity region 72 86 N/A INTRINSIC
Pfam:DUF4606 175 277 3.7e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209814
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 117,077,115 noncoding transcript Het
5430419D17Rik A G 7: 131,222,830 E91G probably damaging Het
Adgrv1 A T 13: 81,435,556 probably benign Het
Alx1 G A 10: 103,022,193 T215M probably damaging Het
Arhgap39 A G 15: 76,724,984 *1079Q probably null Het
Brca2 T C 5: 150,543,308 V2179A possibly damaging Het
Celsr1 G A 15: 86,030,617 Q1052* probably null Het
Chd5 A G 4: 152,363,024 E510G probably damaging Het
Cntnap2 A G 6: 46,234,320 D556G probably damaging Het
Cux2 G A 5: 121,860,822 P1352S possibly damaging Het
Cyp4a31 A T 4: 115,571,064 Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 probably null Het
Dcc C A 18: 71,370,702 A942S probably benign Het
Dyrk1a A T 16: 94,685,183 D463V probably damaging Het
Eln T A 5: 134,704,568 probably benign Het
Fbxl13 A G 5: 21,556,805 probably null Het
Fndc3b T C 3: 27,458,751 Y742C probably damaging Het
Furin G A 7: 80,392,521 T442I probably benign Het
Gli1 T C 10: 127,337,092 Q155R probably benign Het
Glra3 A G 8: 56,085,144 E218G probably benign Het
Gm13101 T C 4: 143,965,020 N378D probably benign Het
Grb10 C T 11: 11,946,767 V236M probably damaging Het
Grhl2 T C 15: 37,309,765 probably benign Het
Hgfac A T 5: 35,047,220 M579L probably damaging Het
Ifi202b A T 1: 173,974,772 D165E probably benign Het
Klhl26 A T 8: 70,452,731 D95E probably damaging Het
Klk12 T C 7: 43,769,689 V26A probably benign Het
Lrp2 C T 2: 69,503,430 G1489D probably benign Het
Lrrtm1 A T 6: 77,244,591 S344C probably damaging Het
Lzts1 G A 8: 69,140,848 R36* probably null Het
Mapkap1 T C 2: 34,518,669 probably benign Het
Meis3 T A 7: 16,178,797 probably null Het
Mtmr14 T A 6: 113,240,306 C60S probably damaging Het
Nfkb1 T A 3: 135,590,818 Y789F probably damaging Het
Nup54 G A 5: 92,417,539 Q440* probably null Het
Ogdhl T G 14: 32,345,174 M861R probably damaging Het
Olfr1290 C T 2: 111,489,835 A108T probably damaging Het
Olfr1425 G T 19: 12,073,887 H248Q possibly damaging Het
Olfr156 T C 4: 43,821,289 E24G possibly damaging Het
Olfr692 A T 7: 105,368,536 H61L possibly damaging Het
Olfr810 A G 10: 129,790,791 V266A probably benign Het
Pde6c A G 19: 38,157,500 K412R probably benign Het
Pex5l T C 3: 32,992,902 probably benign Het
Pigr A T 1: 130,850,858 I760L probably benign Het
Prr14l G A 5: 32,830,942 A403V probably benign Het
Prrt3 T C 6: 113,494,307 D968G probably damaging Het
Psmc5 T C 11: 106,263,043 I401T possibly damaging Het
Ralyl T A 3: 14,107,272 probably benign Het
Samd9l T C 6: 3,374,798 E821G probably damaging Het
Serpinb3a T A 1: 107,046,072 I370F probably damaging Het
Setd1a A G 7: 127,797,698 probably benign Het
Slco2a1 T A 9: 103,074,416 F381L probably benign Het
Strada A G 11: 106,168,356 Y199H probably benign Het
Stxbp2 T C 8: 3,632,531 I40T probably damaging Het
Tbx3 T C 5: 119,678,812 V358A possibly damaging Het
Tenm3 A G 8: 48,299,639 L896S probably benign Het
Tmem132a A G 19: 10,858,518 S883P probably damaging Het
Trio A G 15: 27,818,104 I496T possibly damaging Het
Unc79 C T 12: 103,112,276 R1548W probably damaging Het
Unc79 T C 12: 103,112,018 probably benign Het
Vmn2r9 T C 5: 108,848,201 M194V possibly damaging Het
Other mutations in AI429214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:AI429214 APN 8 36994229 missense probably damaging 0.98
R0973:AI429214 UTSW 8 36994319 missense probably benign 0.29
R0973:AI429214 UTSW 8 36994319 missense probably benign 0.29
R0974:AI429214 UTSW 8 36994319 missense probably benign 0.29
R2007:AI429214 UTSW 8 36993769 missense probably benign 0.29
R2113:AI429214 UTSW 8 36994000 nonsense probably null
R2126:AI429214 UTSW 8 36994208 missense probably benign 0.00
R2254:AI429214 UTSW 8 36993766 missense possibly damaging 0.91
R3409:AI429214 UTSW 8 36993917 missense probably benign 0.00
R3411:AI429214 UTSW 8 36993917 missense probably benign 0.00
R3852:AI429214 UTSW 8 36994442 missense probably damaging 1.00
R4657:AI429214 UTSW 8 36994391 missense probably damaging 1.00
R5766:AI429214 UTSW 8 36994229 frame shift probably null
R5767:AI429214 UTSW 8 36994229 frame shift probably null
R6248:AI429214 UTSW 8 36994124 missense probably damaging 1.00
R6888:AI429214 UTSW 8 36993833 missense possibly damaging 0.85
R8018:AI429214 UTSW 8 36993666 start gained probably benign
Posted On2015-04-16