Incidental Mutation 'IGL03274:Gm4884'
ID415346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4884
Ensembl Gene ENSMUSG00000048312
Gene Namepredicted gene 4884
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL03274
Quality Score
Status
Chromosome7
Chromosomal Location41032719-41045302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41044545 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 646 (E646G)
Ref Sequence ENSEMBL: ENSMUSP00000133059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164422]
Predicted Effect probably damaging
Transcript: ENSMUST00000164422
AA Change: E646G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133059
Gene: ENSMUSG00000048312
AA Change: E646G

DomainStartEndE-ValueType
Pfam:DUF4629 243 387 8e-62 PFAM
low complexity region 509 533 N/A INTRINSIC
internal_repeat_1 554 584 1.89e-11 PROSPERO
internal_repeat_1 583 613 1.89e-11 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191289
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037H04Rik A T 2: 131,153,592 probably null Het
Anln C A 9: 22,382,269 R26M probably damaging Het
Capn15 A T 17: 25,961,838 S753T probably damaging Het
Ccdc62 A G 5: 123,954,680 N576S probably benign Het
Csmd3 T C 15: 47,645,504 D2895G probably damaging Het
Dspp T A 5: 104,174,948 V37E probably damaging Het
Efcab6 T C 15: 83,868,249 D1473G probably damaging Het
Ehhadh T C 16: 21,763,340 probably benign Het
Fbln1 T C 15: 85,232,678 probably null Het
Gbp9 A G 5: 105,082,786 V424A possibly damaging Het
Gda T C 19: 21,417,007 Y236C possibly damaging Het
Gm11639 A T 11: 104,721,093 D587V probably benign Het
Gm4952 C A 19: 12,623,596 probably benign Het
Gm5422 G T 10: 31,250,352 noncoding transcript Het
Grin2b C T 6: 135,780,255 D403N possibly damaging Het
Hsf2bp G A 17: 32,007,770 R204C probably damaging Het
Il16 T C 7: 83,661,234 E488G probably damaging Het
Kat6b G T 14: 21,609,763 D212Y possibly damaging Het
Kctd2 A C 11: 115,429,382 I247L possibly damaging Het
Kel T A 6: 41,687,995 probably null Het
Krt20 A T 11: 99,430,029 probably benign Het
Litaf T C 16: 10,966,569 T26A probably damaging Het
N4bp2l2 G T 5: 150,661,466 Q350K probably damaging Het
Nav2 T G 7: 49,362,099 I26S probably damaging Het
Nfya A G 17: 48,391,347 Y162H probably damaging Het
Olfr117 C T 17: 37,659,755 A193T probably benign Het
Pbx4 A T 8: 69,866,550 S244C probably damaging Het
Pcdhb16 T C 18: 37,479,232 V415A probably benign Het
Rbbp8 A G 18: 11,741,076 probably benign Het
Sp100 T C 1: 85,707,304 probably benign Het
Spag16 A G 1: 69,844,381 probably benign Het
Star A G 8: 25,811,054 D138G possibly damaging Het
Other mutations in Gm4884
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Gm4884 APN 7 41044385 missense probably benign 0.22
IGL00980:Gm4884 APN 7 41043726 missense probably damaging 1.00
IGL02230:Gm4884 APN 7 41043405 missense probably damaging 1.00
IGL03271:Gm4884 APN 7 41043275 missense probably benign 0.33
R0013:Gm4884 UTSW 7 41044292 missense probably damaging 1.00
R0139:Gm4884 UTSW 7 41042963 missense probably benign 0.00
R0179:Gm4884 UTSW 7 41043828 missense probably benign 0.26
R0960:Gm4884 UTSW 7 41042808 missense possibly damaging 0.55
R1167:Gm4884 UTSW 7 41043912 missense possibly damaging 0.92
R1311:Gm4884 UTSW 7 41043115 missense possibly damaging 0.73
R1466:Gm4884 UTSW 7 41043128 missense probably damaging 0.96
R1466:Gm4884 UTSW 7 41043128 missense probably damaging 0.96
R1581:Gm4884 UTSW 7 41043831 missense probably benign 0.09
R1622:Gm4884 UTSW 7 41042841 missense probably damaging 0.99
R1891:Gm4884 UTSW 7 41043115 missense possibly damaging 0.73
R1952:Gm4884 UTSW 7 41044247 missense probably benign 0.02
R2198:Gm4884 UTSW 7 41040805 missense probably benign
R2209:Gm4884 UTSW 7 41043321 missense possibly damaging 0.47
R2210:Gm4884 UTSW 7 41043546 missense possibly damaging 0.72
R2219:Gm4884 UTSW 7 41043486 missense possibly damaging 0.75
R3688:Gm4884 UTSW 7 41043486 missense possibly damaging 0.75
R4437:Gm4884 UTSW 7 41043090 missense probably damaging 0.97
R4472:Gm4884 UTSW 7 41043263 missense probably benign 0.35
R5137:Gm4884 UTSW 7 41042894 missense probably damaging 0.99
R5700:Gm4884 UTSW 7 41043219 missense probably benign 0.22
R5875:Gm4884 UTSW 7 41042936 missense possibly damaging 0.75
R6479:Gm4884 UTSW 7 41040787 missense probably damaging 0.99
R6659:Gm4884 UTSW 7 41044622 missense probably damaging 1.00
R7180:Gm4884 UTSW 7 41044209 missense possibly damaging 0.89
R7844:Gm4884 UTSW 7 41040698 missense probably benign 0.11
R8153:Gm4884 UTSW 7 41043158 missense probably benign 0.17
R8436:Gm4884 UTSW 7 41043386 missense probably damaging 0.97
RF013:Gm4884 UTSW 7 41040809 missense probably damaging 1.00
Z1088:Gm4884 UTSW 7 41042876 missense possibly damaging 0.71
Z1177:Gm4884 UTSW 7 41032737 start gained probably benign
Posted On2016-08-02