Incidental Mutation 'IGL02339:Gm4952'
ID 288991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4952
Ensembl Gene ENSMUSG00000071633
Gene Name predicted gene 4952
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02339
Quality Score
Status
Chromosome 19
Chromosomal Location 12599974-12628251 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12626911 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 229 (R229Q)
Ref Sequence ENSEMBL: ENSMUSP00000090607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092931] [ENSMUST00000181868]
AlphaFold Q5FW57
Predicted Effect probably damaging
Transcript: ENSMUST00000092931
AA Change: R229Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: R229Q

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 benign
Transcript: ENSMUST00000181868
SMART Domains Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,739,465 S546P probably damaging Het
Aass C A 6: 23,093,966 V119F probably damaging Het
Abcg5 T C 17: 84,673,604 I186V possibly damaging Het
B4gat1 G A 19: 5,039,418 E148K probably benign Het
Ccr6 A T 17: 8,256,253 T97S probably benign Het
Cd209f A C 8: 4,104,483 probably null Het
Chst1 T A 2: 92,613,577 D131E possibly damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah6 A G 6: 73,101,898 Y2361H probably benign Het
Dpp6 C T 5: 27,652,230 T333I probably damaging Het
Glt8d1 C A 14: 31,008,810 T91K probably damaging Het
Gm5117 T C 8: 31,738,226 noncoding transcript Het
Gp5 T C 16: 30,309,190 E222G probably damaging Het
Herc2 T A 7: 56,121,722 D1077E probably benign Het
Hfe T C 13: 23,704,390 E171G probably damaging Het
Hsp90b1 A G 10: 86,701,814 V209A probably damaging Het
Ktn1 A T 14: 47,683,378 probably benign Het
Med13 T C 11: 86,288,939 I1394M probably benign Het
Meioc T G 11: 102,668,448 S65R probably benign Het
Myof T C 19: 37,972,213 Y460C possibly damaging Het
Olfr1276 A T 2: 111,257,243 T43S probably benign Het
Pms1 A G 1: 53,275,165 Y74H possibly damaging Het
Ptprn2 A C 12: 116,722,104 Q61P probably damaging Het
Rab29 A G 1: 131,872,142 T152A probably benign Het
Rest A G 5: 77,275,288 H313R probably damaging Het
Slc9a5 T C 8: 105,358,459 Y531H probably damaging Het
St3gal3 T C 4: 117,958,562 T148A probably damaging Het
Stxbp5 C T 10: 9,816,297 V368I possibly damaging Het
Taf1c T C 8: 119,604,280 D33G probably damaging Het
Trim38 G A 13: 23,788,230 R178Q probably damaging Het
Uvssa A T 5: 33,414,849 K704N probably damaging Het
Vmn1r69 G A 7: 10,580,718 Q29* probably null Het
Ypel2 T C 11: 86,940,603 D119G possibly 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
IGL01542:Gm4952 APN 19 12618407 missense possibly damaging 0.76
IGL01714:Gm4952 APN 19 12624711 missense probably benign 0.16
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
R9573:Gm4952 UTSW 19 12626726 missense probably benign 0.01
Posted On 2015-04-16