Incidental Mutation 'IGL02405:Gm11992'
ID292036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11992
Ensembl Gene ENSMUSG00000040978
Gene Namepredicted gene 11992
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02405
Quality Score
Status
Chromosome11
Chromosomal Location9048594-9069356 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 9059939 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 179 (N179S)
Ref Sequence ENSEMBL: ENSMUSP00000039806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043285]
Predicted Effect probably benign
Transcript: ENSMUST00000043285
AA Change: N179S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000039806
Gene: ENSMUSG00000040978
AA Change: N179S

DomainStartEndE-ValueType
low complexity region 244 255 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,279,062 S1434P possibly damaging Het
Abcc12 G T 8: 86,558,153 Q278K probably damaging Het
Adk A G 14: 21,103,831 K48R probably benign Het
Atp8b3 C T 10: 80,530,628 G267D probably damaging Het
Bpifa6 T A 2: 153,990,862 L299* probably null Het
Cblb G A 16: 52,166,253 A620T probably benign Het
Cep128 C T 12: 91,266,986 R436H probably benign Het
Chd4 A G 6: 125,097,227 D21G probably benign Het
Cnksr1 T C 4: 134,236,281 D30G possibly damaging Het
Crybb2 A G 5: 113,058,508 Y154H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhx57 A T 17: 80,255,550 probably null Het
Eri2 T C 7: 119,785,482 R599G probably damaging Het
Fcrl1 A C 3: 87,385,767 K244Q probably damaging Het
Hgfac A G 5: 35,044,480 D319G probably benign Het
Irf5 G A 6: 29,535,761 R258H probably damaging Het
Mecr G A 4: 131,862,992 probably null Het
Obscn T G 11: 59,132,602 K650Q probably damaging Het
Olfr1450 A G 19: 12,954,459 Y290C probably damaging Het
Pde4d T C 13: 108,860,209 probably null Het
Ppp1r32 G A 19: 10,474,566 T406I probably damaging Het
Serpinh1 A G 7: 99,347,334 M217T possibly damaging Het
Setbp1 A T 18: 78,857,299 M1051K probably damaging Het
Slc43a3 A G 2: 84,938,241 E68G probably damaging Het
Supt5 T C 7: 28,315,824 N969D probably benign Het
Taf2 A T 15: 55,034,155 probably benign Het
Tlr2 A G 3: 83,836,674 F701L probably damaging Het
Trim46 T C 3: 89,242,485 T222A probably benign Het
Tshz3 A T 7: 36,769,650 N355Y possibly damaging Het
Vmn2r3 A G 3: 64,271,199 probably benign Het
Xkr9 A T 1: 13,672,773 probably benign Het
Zfhx3 C T 8: 108,955,742 A3271V unknown Het
Other mutations in Gm11992
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Gm11992 APN 11 9068383 makesense probably null
IGL01837:Gm11992 APN 11 9061266 missense probably damaging 1.00
IGL02875:Gm11992 APN 11 9052887 unclassified probably benign
P0023:Gm11992 UTSW 11 9052846 missense probably damaging 1.00
R5100:Gm11992 UTSW 11 9061290 missense probably damaging 0.99
R5471:Gm11992 UTSW 11 9068333 critical splice acceptor site probably null
R5935:Gm11992 UTSW 11 9052711 missense probably damaging 1.00
R6715:Gm11992 UTSW 11 9061214 missense probably damaging 1.00
R7559:Gm11992 UTSW 11 9052747 missense possibly damaging 0.94
R7910:Gm11992 UTSW 11 9049165 missense probably damaging 1.00
R7991:Gm11992 UTSW 11 9049165 missense probably damaging 1.00
Posted On2015-04-16