Incidental Mutation 'IGL02690:Gm12666'
ID303680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12666
Ensembl Gene ENSMUSG00000066107
Gene Namepredicted gene 12666
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02690
Quality Score
Status
Chromosome4
Chromosomal Location92190744-92191749 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92191011 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 191 (D191V)
Ref Sequence ENSEMBL: ENSMUSP00000122212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123179]
Predicted Effect probably damaging
Transcript: ENSMUST00000123179
AA Change: D191V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122212
Gene: ENSMUSG00000066107
AA Change: D191V

DomainStartEndE-ValueType
RRM 3 73 9.8e-9 SMART
low complexity region 87 103 N/A INTRINSIC
low complexity region 134 153 N/A INTRINSIC
low complexity region 179 188 N/A INTRINSIC
low complexity region 228 246 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,480,921 V896A probably damaging Het
Ahnak C A 19: 9,012,584 S3744* probably null Het
Aldh7a1 A G 18: 56,528,355 probably benign Het
Ankk1 T A 9: 49,421,900 I95F probably damaging Het
Borcs8 C A 8: 70,165,088 A32D probably damaging Het
Cdh1 T A 8: 106,657,884 I328N probably damaging Het
Cebpz C T 17: 78,922,557 D856N probably damaging Het
Clip2 T A 5: 134,510,159 probably benign Het
Dock7 C A 4: 98,969,635 V1451F possibly damaging Het
Edem3 T G 1: 151,804,799 C558W probably damaging Het
Eif3f T C 7: 108,934,718 V96A probably damaging Het
Gen1 A G 12: 11,241,575 S738P probably damaging Het
Gm8906 C T 5: 11,505,261 Q66* probably null Het
Ipo8 A T 6: 148,777,363 S912R probably benign Het
Kcp G T 6: 29,484,999 probably benign Het
Lrrfip1 A G 1: 91,053,661 T2A probably damaging Het
Lyst A G 13: 13,641,125 E1198G possibly damaging Het
Maml1 A G 11: 50,258,630 L761P probably damaging Het
Mon2 T A 10: 123,009,627 E1392V possibly damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Nov A G 15: 54,747,802 Y111C probably damaging Het
Olfr156 G A 4: 43,821,190 T57M possibly damaging Het
Olfr181 G A 16: 58,925,851 T240I possibly damaging Het
Papd7 T A 13: 69,510,625 M364L probably benign Het
Rag2 A T 2: 101,629,494 I50L probably benign Het
Rasgrf2 T C 13: 92,030,765 N267D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsc1a1 A T 4: 141,685,301 V100D probably damaging Het
Rtp1 T C 16: 23,431,382 Y166H probably damaging Het
Scly A T 1: 91,305,325 T109S probably benign Het
Scn8a A T 15: 100,970,254 S327C probably damaging Het
Sgsm1 T C 5: 113,286,767 probably benign Het
Slc4a9 A G 18: 36,531,987 Y463C probably damaging Het
Sptan1 A G 2: 29,998,183 M936V possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tbx20 T A 9: 24,773,737 N37Y probably benign Het
Tex14 C T 11: 87,486,274 T148I probably benign Het
Ubxn7 A G 16: 32,381,605 E371G probably benign Het
Ugt2b35 T C 5: 87,001,237 F116L probably benign Het
Vmn2r111 C T 17: 22,559,042 probably null Het
Vmn2r26 T C 6: 124,026,132 L167P probably benign Het
Vps13b T C 15: 35,917,142 W3711R probably damaging Het
Wdr5 A T 2: 27,534,828 T326S probably benign Het
Other mutations in Gm12666
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01373:Gm12666 APN 4 92191625 missense probably damaging 0.98
IGL01670:Gm12666 APN 4 92191500 splice site probably null
IGL03052:Gm12666 UTSW 4 92191050 missense probably benign 0.01
R2094:Gm12666 UTSW 4 92191656 missense probably damaging 1.00
R2567:Gm12666 UTSW 4 92191323 missense probably benign 0.10
R3438:Gm12666 UTSW 4 92191682 missense possibly damaging 0.94
R3439:Gm12666 UTSW 4 92191682 missense possibly damaging 0.94
R4388:Gm12666 UTSW 4 92191114 missense probably benign 0.00
R4710:Gm12666 UTSW 4 92190975 missense possibly damaging 0.94
R5810:Gm12666 UTSW 4 92191583 critical splice donor site probably null
R6969:Gm12666 UTSW 4 92191589 missense probably damaging 1.00
R7486:Gm12666 UTSW 4 92191269 missense probably benign 0.11
X0067:Gm12666 UTSW 4 92191334 splice site probably null
Posted On2015-04-16