Incidental Mutation 'IGL03295:Mier3'
ID416043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mier3
Ensembl Gene ENSMUSG00000032727
Gene NameMIER family member 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.682) question?
Stock #IGL03295
Quality Score
Status
Chromosome13
Chromosomal Location111680979-111718596 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 111703681 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 51 (T51K)
Ref Sequence ENSEMBL: ENSMUSP00000156206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047412] [ENSMUST00000109272] [ENSMUST00000137268] [ENSMUST00000231273] [ENSMUST00000231979]
Predicted Effect probably benign
Transcript: ENSMUST00000047412
AA Change: T51K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036809
Gene: ENSMUSG00000032727
AA Change: T51K

DomainStartEndE-ValueType
low complexity region 53 65 N/A INTRINSIC
ELM2 149 203 8.33e-14 SMART
SANT 251 300 5.32e-9 SMART
low complexity region 509 522 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000109271
AA Change: T76K
SMART Domains Protein: ENSMUSP00000104894
Gene: ENSMUSG00000032727
AA Change: T76K

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
ELM2 175 229 8.33e-14 SMART
SANT 277 326 5.32e-9 SMART
low complexity region 535 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109272
AA Change: T78K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104895
Gene: ENSMUSG00000032727
AA Change: T78K

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
ELM2 176 230 8.33e-14 SMART
SANT 279 328 5.32e-9 SMART
low complexity region 537 550 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137268
AA Change: T78K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117483
Gene: ENSMUSG00000032727
AA Change: T78K

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231273
AA Change: T51K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000231979
AA Change: T51K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232560
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,056 probably benign Het
Adamts5 T C 16: 85,877,945 T444A probably damaging Het
Aldh18a1 T C 19: 40,562,942 E522G probably damaging Het
Bbx T C 16: 50,224,564 T437A probably damaging Het
Bsx A G 9: 40,874,447 probably benign Het
C330027C09Rik T C 16: 48,994,341 S22P probably damaging Het
Cdc42bpa A G 1: 180,150,204 N729S probably benign Het
Cdk1 G T 10: 69,342,543 H162Q possibly damaging Het
Chrac1 A G 15: 73,093,596 probably benign Het
Ddx60 A T 8: 61,956,121 D397V possibly damaging Het
Edn2 T A 4: 120,161,981 C56S probably damaging Het
Gm13103 G A 4: 143,853,189 C448Y probably damaging Het
Gm4952 T C 19: 12,618,327 V27A probably benign Het
Herc1 T A 9: 66,396,703 S763T possibly damaging Het
Hspd1 G A 1: 55,080,175 T381I probably benign Het
Krt2 T A 15: 101,816,429 I249F probably damaging Het
Lman2l T C 1: 36,438,811 D148G probably damaging Het
Lrp1b C T 2: 40,678,987 probably null Het
Ppp1r36 C T 12: 76,438,418 P305L probably damaging Het
Prdm1 T C 10: 44,439,870 I790V probably damaging Het
Sephs2 T C 7: 127,272,769 E384G possibly damaging Het
Sipa1l1 T A 12: 82,432,940 W1466R probably damaging Het
Snai2 T C 16: 14,706,774 L48P possibly damaging Het
Stt3a A G 9: 36,763,331 probably null Het
Synj1 T A 16: 90,938,430 N1545I probably benign Het
Vav2 A T 2: 27,275,029 S607T possibly damaging Het
Wdr27 T C 17: 14,934,575 K27E possibly damaging Het
Xcl1 A T 1: 164,935,435 V19E unknown Het
Xlr3c A T X: 73,257,634 probably null Het
Zbtb44 T A 9: 31,053,457 D54E probably benign Het
Zscan21 A G 5: 138,125,278 D73G possibly damaging Het
Other mutations in Mier3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Mier3 APN 13 111714436 splice site probably benign
IGL03054:Mier3 UTSW 13 111686314 start gained probably benign
R0119:Mier3 UTSW 13 111715038 missense probably damaging 1.00
R1106:Mier3 UTSW 13 111708229 missense probably damaging 1.00
R1453:Mier3 UTSW 13 111705244 missense probably damaging 1.00
R1463:Mier3 UTSW 13 111711755 missense probably damaging 0.99
R1555:Mier3 UTSW 13 111708359 missense probably damaging 0.98
R2413:Mier3 UTSW 13 111715128 utr 3 prime probably benign
R3055:Mier3 UTSW 13 111691303 missense probably damaging 1.00
R3114:Mier3 UTSW 13 111706648 missense probably damaging 0.98
R3115:Mier3 UTSW 13 111706648 missense probably damaging 0.98
R3116:Mier3 UTSW 13 111706648 missense probably damaging 0.98
R4345:Mier3 UTSW 13 111705283 missense probably damaging 1.00
R4834:Mier3 UTSW 13 111715109 nonsense probably null
R5050:Mier3 UTSW 13 111714573 missense possibly damaging 0.94
R5592:Mier3 UTSW 13 111706661 nonsense probably null
R5869:Mier3 UTSW 13 111714850 missense probably damaging 1.00
R6406:Mier3 UTSW 13 111709809 critical splice donor site probably null
R7151:Mier3 UTSW 13 111714768 missense probably benign 0.01
R7361:Mier3 UTSW 13 111705249 missense possibly damaging 0.91
R7362:Mier3 UTSW 13 111705249 missense possibly damaging 0.91
R7385:Mier3 UTSW 13 111705249 missense possibly damaging 0.91
R7683:Mier3 UTSW 13 111705312 missense probably benign
Posted On2016-08-02