Incidental Mutation 'R3055:Mier3'
ID265147
Institutional Source Beutler Lab
Gene Symbol Mier3
Ensembl Gene ENSMUSG00000032727
Gene NameMIER family member 3
Synonyms
MMRRC Submission 040564-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.804) question?
Stock #R3055 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location111680979-111718596 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111691303 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 7 (D7E)
Ref Sequence ENSEMBL: ENSMUSP00000156206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047412] [ENSMUST00000109272] [ENSMUST00000137268] [ENSMUST00000231273] [ENSMUST00000231979]
Predicted Effect probably damaging
Transcript: ENSMUST00000047412
AA Change: D7E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036809
Gene: ENSMUSG00000032727
AA Change: D7E

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: D32E
SMART Domains Protein: ENSMUSP00000104894
Gene: ENSMUSG00000032727
AA Change: D32E

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 damaging
Transcript: ENSMUST00000109272
AA Change: D34E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104895
Gene: ENSMUSG00000032727
AA Change: D34E

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 damaging
Transcript: ENSMUST00000137268
AA Change: D34E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117483
Gene: ENSMUSG00000032727
AA Change: D34E

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146726
Predicted Effect probably damaging
Transcript: ENSMUST00000231273
AA Change: D7E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231713
Predicted Effect probably damaging
Transcript: ENSMUST00000231979
AA Change: D7E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232560
Meta Mutation Damage Score 0.2674 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A G 14: 4,348,878 E13G probably damaging Het
5730596B20Rik A T 6: 52,179,128 probably benign Het
A230050P20Rik AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,873,717 probably benign Het
Abca16 A G 7: 120,435,851 M287V probably benign Het
Abca7 G A 10: 79,999,747 R283H probably damaging Het
Acad11 A G 9: 104,076,336 I126V probably damaging Het
Ahrr A G 13: 74,224,887 V148A probably damaging Het
Aldh1l2 T C 10: 83,502,472 K528E probably benign Het
Atp6v0a2 T A 5: 124,627,144 probably benign Het
Atxn10 A G 15: 85,387,005 D248G probably benign Het
Bard1 A G 1: 71,088,231 V73A possibly damaging Het
Catsper3 T C 13: 55,808,896 S376P unknown Het
Ccdc150 A G 1: 54,288,842 N361S possibly damaging Het
Cxcr6 A T 9: 123,810,464 I177F probably damaging Het
D330045A20Rik T A X: 139,511,557 V439E possibly damaging Het
Ddx25 A G 9: 35,551,351 V246A probably damaging Het
Drd4 T C 7: 141,294,479 V319A probably damaging Het
Dscam G A 16: 96,801,355 T629I probably damaging Het
Evi5l C T 8: 4,191,603 R311* probably null Het
Fxr1 A G 3: 34,049,184 E221G probably damaging Het
Gldn A T 9: 54,338,523 T453S probably damaging Het
Gm436 A G 4: 144,674,698 I72T probably benign Het
Ighm T A 12: 113,418,976 probably benign Het
Ints12 G A 3: 133,109,365 M444I possibly damaging Het
Lgr5 T A 10: 115,466,123 probably benign Het
Mms19 A T 19: 41,950,088 probably benign Het
Mrpl20 G T 4: 155,803,872 V43F possibly damaging Het
Muc5b G T 7: 141,864,041 V3575F probably damaging Het
Naip5 T C 13: 100,221,878 Y950C probably benign Het
Olfr1094 T C 2: 86,829,127 F125S possibly damaging Het
Olfr463 A G 11: 87,893,372 V184A possibly damaging Het
Olfr875 G T 9: 37,773,193 C178F probably damaging Het
Pkd1l2 T A 8: 117,068,315 probably null Het
Prune2 A G 19: 17,125,043 E2522G probably damaging Het
Radil T C 5: 142,495,406 T549A possibly damaging Het
Rasa2 G A 9: 96,611,473 L53F possibly damaging Het
Rasgrf2 A G 13: 92,029,075 F306L probably damaging Het
Rbm19 C T 5: 120,133,010 R633C probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Slc4a4 T A 5: 89,132,507 L353H probably damaging Het
Slc4a4 T C 5: 89,225,948 V971A probably damaging Het
Stil T A 4: 115,014,069 probably benign Het
Tjp3 T C 10: 81,280,507 K251R probably benign Het
Ugt2b35 A T 5: 87,001,598 Y236F probably benign Het
Utp14b T A 1: 78,664,725 D113E possibly damaging Het
Vmn1r121 G A 7: 21,098,465 Q17* probably null Het
Vmn2r28 A T 7: 5,481,392 L603Q probably damaging Het
Vps13b A G 15: 35,646,361 E1537G probably damaging Het
Xrcc4 T C 13: 90,062,077 T83A probably benign Het
Yae1d1 T C 13: 17,993,242 E22G probably damaging Het
Other mutations in Mier3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Mier3 APN 13 111714436 splice site probably benign
IGL03295:Mier3 APN 13 111703681 missense probably benign 0.00
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
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
R8953:Mier3 UTSW 13 111706053 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GACGCCCGTAAAAGTGTTTGTG -3'
(R):5'- GACCCTCACTGTTCTTGGATAAG -3'

Sequencing Primer
(F):5'- CGCCCGTAAAAGTGTTTGTGAATAC -3'
(R):5'- GTGGGTGTTCTAATGCTAC -3'
Posted On2015-02-05