Incidental Mutation 'IGL01542:Gm4952'
ID90180
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: 0.058) question?
Stock #IGL01542
Quality Score
Status
Chromosome19
Chromosomal Location12599974-12628251 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12618407 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 54 (T54A)
Ref Sequence ENSEMBL: ENSMUSP00000137934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092931] [ENSMUST00000181868]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092931
AA Change: T54A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: T54A

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 possibly damaging
Transcript: ENSMUST00000181868
AA Change: T54A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633
AA Change: T54A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A G 1: 177,743,384 T95A possibly damaging Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arhgap20 A G 9: 51,838,887 M316V probably benign Het
Chd7 T G 4: 8,859,285 N2458K possibly damaging Het
Clock T C 5: 76,231,475 E538G possibly damaging Het
Clpb G A 7: 101,787,505 V596I probably damaging Het
Col9a3 T C 2: 180,609,316 probably benign Het
D130043K22Rik G A 13: 24,876,037 probably null Het
Drd4 T C 7: 141,293,831 probably benign Het
Fam228b A T 12: 4,763,055 I105N probably damaging Het
Gm20939 A T 17: 94,874,293 probably benign Het
Hbs1l T C 10: 21,307,756 V132A probably benign Het
Kpna2 T A 11: 106,991,201 E266D probably benign Het
Lars T C 18: 42,214,827 E977G probably benign Het
Lrrn4 T C 2: 132,879,472 T142A probably benign Het
Myo19 T C 11: 84,909,546 L919P probably damaging Het
Nhlrc1 A T 13: 47,014,131 F217I probably damaging Het
Olfr1495 T C 19: 13,768,537 F65S probably damaging Het
Plch1 T C 3: 63,731,649 I468V probably damaging Het
Rergl T A 6: 139,493,498 probably null Het
Sctr A G 1: 120,044,769 probably benign Het
Sdhb T C 4: 140,972,967 V126A probably benign Het
Smad3 C T 9: 63,655,586 R214Q probably damaging Het
Tdrd9 T C 12: 112,046,989 M1219T possibly damaging Het
Tmem167b A T 3: 108,558,906 N75K possibly damaging Het
Vmn2r83 T C 10: 79,479,012 S365P probably benign Het
Vps16 T C 2: 130,438,394 F153L probably damaging Het
Other mutations in Gm4952
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Gm4952 APN 19 12618408 missense probably damaging 1.00
IGL00990:Gm4952 APN 19 12623623 missense probably damaging 1.00
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 On2013-12-03