Incidental Mutation 'IGL00898:Gm4952'
ID29484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4952
Ensembl Gene ENSMUSG00000071633
Gene Namepredicted gene 4952
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00898
Quality Score
Status
Chromosome19
Chromosomal Location12599974-12628251 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 12618408 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 54 (T54I)
Ref Sequence ENSEMBL: ENSMUSP00000137934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092931] [ENSMUST00000181868]
Predicted Effect probably damaging
Transcript: ENSMUST00000092931
AA Change: T54I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: T54I

DomainStartEndE-ValueType
Pfam:Gly_acyl_tr_N 1 206 2.6e-90 PFAM
Pfam:Gly_acyl_tr_C 207 295 2.7e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000181868
AA Change: T54I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633
AA Change: T54I

DomainStartEndE-ValueType
Pfam:Gly_acyl_tr_N 1 206 3.7e-112 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,733,690 G956S probably damaging Het
Alpk2 G T 18: 65,350,573 D121E probably benign Het
Apc A G 18: 34,317,094 T2314A probably damaging Het
Arhgef11 T C 3: 87,729,503 L990P probably damaging Het
Ccar1 T A 10: 62,753,234 K823N unknown Het
Celsr2 C T 3: 108,413,879 R539H possibly damaging Het
Clca3b A G 3: 144,844,628 probably benign Het
Cpxcr1 T C X: 116,477,710 L106S possibly damaging Het
Edc4 T A 8: 105,881,123 L16Q probably damaging Het
Emc1 A G 4: 139,371,630 E808G probably damaging Het
Epha6 A T 16: 59,775,541 probably null Het
Epha7 G A 4: 28,938,693 R516Q probably damaging Het
Fancm T C 12: 65,106,000 S1077P probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Il1b T C 2: 129,367,333 R126G possibly damaging Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Lamb3 A T 1: 193,338,883 T923S possibly damaging Het
Lrp6 C T 6: 134,479,739 S854N probably damaging Het
Ltv1 A G 10: 13,182,287 F258L probably damaging Het
Mcm3ap T C 10: 76,470,325 S91P probably benign Het
Msra A G 14: 64,123,325 I125T probably damaging Het
Nr0b1 A T X: 86,192,471 Q224L probably benign Het
Nr2e1 T A 10: 42,568,453 D220V probably damaging Het
Nup160 C A 2: 90,693,106 H351Q probably damaging Het
Olfr1446 T A 19: 12,889,918 M220L probably benign Het
Pcdh12 C A 18: 38,281,457 V872L probably benign Het
Pcnx2 T A 8: 125,887,585 S376C probably damaging Het
Pkd2 A G 5: 104,483,135 E475G probably damaging Het
Psg22 A G 7: 18,724,467 Y322C probably damaging Het
Rgl2 T C 17: 33,933,418 I363T possibly damaging Het
Rimklb G T 6: 122,456,631 Q187K possibly damaging Het
Sectm1b A T 11: 121,056,249 W17R probably damaging Het
Snu13 C A 15: 82,042,315 A60S probably benign Het
Sox30 T A 11: 45,991,900 F586I possibly damaging Het
Tnfsfm13 C A 11: 69,684,301 V220L probably benign Het
Ttn A T 2: 76,762,773 V20711E probably damaging Het
Vmn2r116 A G 17: 23,385,995 N94S possibly damaging Het
Yipf2 T C 9: 21,592,524 probably null Het
Zzef1 T C 11: 72,875,173 S1509P probably benign Het
Other mutations in Gm4952
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Gm4952 APN 19 12623623 missense probably damaging 1.00
IGL01542:Gm4952 APN 19 12618407 missense possibly damaging 0.76
IGL01714:Gm4952 APN 19 12624711 missense probably benign 0.16
IGL02339:Gm4952 APN 19 12626911 missense probably damaging 0.98
IGL03068:Gm4952 APN 19 12623704 missense probably damaging 0.99
IGL03100:Gm4952 APN 19 12624719 critical splice donor site probably null
IGL03274:Gm4952 APN 19 12623596 splice site probably benign
IGL03295:Gm4952 APN 19 12618327 missense probably benign 0.39
PIT4520001:Gm4952 UTSW 19 12624684 missense probably benign 0.12
R0604:Gm4952 UTSW 19 12624672 missense probably benign 0.07
R1221:Gm4952 UTSW 19 12623695 missense possibly damaging 0.51
R1513:Gm4952 UTSW 19 12624675 missense probably damaging 0.99
R1514:Gm4952 UTSW 19 12626914 missense probably damaging 1.00
R1804:Gm4952 UTSW 19 12618420 missense probably damaging 0.98
R1928:Gm4952 UTSW 19 12623609 missense probably damaging 0.99
R2447:Gm4952 UTSW 19 12618406 missense possibly damaging 0.70
R4930:Gm4952 UTSW 19 12627012 missense probably benign 0.00
R5360:Gm4952 UTSW 19 12623629 missense probably benign 0.08
R5704:Gm4952 UTSW 19 12626911 missense probably damaging 1.00
R7143:Gm4952 UTSW 19 12618407 missense possibly damaging 0.76
R7332:Gm4952 UTSW 19 12627009 missense probably damaging 1.00
R7420:Gm4952 UTSW 19 12626901 missense probably damaging 1.00
R7702:Gm4952 UTSW 19 12627064 missense probably benign 0.00
Posted On2013-04-17