Incidental Mutation 'IGL01586:Mier1'
ID 91811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mier1
Ensembl Gene ENSMUSG00000028522
Gene Name MEIR1 treanscription regulator
Synonyms 4933425I22Rik, 5830411K19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01586
Quality Score
Status
Chromosome 4
Chromosomal Location 102971587-103022951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103012769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 342 (T342I)
Ref Sequence ENSEMBL: ENSMUSP00000102470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030247] [ENSMUST00000097945] [ENSMUST00000106855] [ENSMUST00000106857] [ENSMUST00000106858]
AlphaFold Q5UAK0
Predicted Effect probably benign
Transcript: ENSMUST00000030247
AA Change: T359I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: T359I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 57 65 N/A INTRINSIC
low complexity region 100 121 N/A INTRINSIC
low complexity region 176 193 N/A INTRINSIC
ELM2 198 251 1.14e-11 SMART
SANT 300 349 7.01e-9 SMART
low complexity region 382 409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097945
AA Change: T387I

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: T387I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 85 93 N/A INTRINSIC
low complexity region 128 149 N/A INTRINSIC
low complexity region 204 221 N/A INTRINSIC
ELM2 226 279 1.14e-11 SMART
SANT 328 377 7.01e-9 SMART
low complexity region 410 437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106855
AA Change: T161I

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
AA Change: T161I

DomainStartEndE-ValueType
ELM2 1 53 2.51e-8 SMART
SANT 102 151 7.01e-9 SMART
low complexity region 184 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106857
AA Change: T342I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: T342I

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 40 48 N/A INTRINSIC
low complexity region 83 104 N/A INTRINSIC
low complexity region 159 176 N/A INTRINSIC
ELM2 181 234 1.14e-11 SMART
SANT 283 332 7.01e-9 SMART
low complexity region 365 392 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106858
AA Change: T359I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: T359I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 57 65 N/A INTRINSIC
low complexity region 100 121 N/A INTRINSIC
low complexity region 176 193 N/A INTRINSIC
ELM2 198 251 1.14e-11 SMART
SANT 300 349 7.01e-9 SMART
low complexity region 382 409 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128536
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,439,125 (GRCm39) Y144N unknown Het
Abca9 A C 11: 110,045,243 (GRCm39) C363W probably damaging Het
Acmsd G A 1: 127,687,447 (GRCm39) R243H probably damaging Het
Adam33 T C 2: 130,895,970 (GRCm39) T490A probably damaging Het
Ank1 A G 8: 23,610,928 (GRCm39) D1411G probably benign Het
Arhgap39 T C 15: 76,614,638 (GRCm39) E842G probably benign Het
Asgr2 T C 11: 69,996,193 (GRCm39) probably benign Het
Bbs9 T C 9: 22,557,293 (GRCm39) V14A possibly damaging Het
Cer1 A G 4: 82,803,080 (GRCm39) S81P probably damaging Het
Cln6 T A 9: 62,751,900 (GRCm39) H41Q probably damaging Het
Dock1 A G 7: 134,355,106 (GRCm39) D334G probably damaging Het
Dpy19l2 A G 9: 24,578,271 (GRCm39) I261T probably benign Het
Fhod3 T G 18: 25,223,804 (GRCm39) I1050S probably damaging Het
Gbgt1 T C 2: 28,387,842 (GRCm39) V22A probably benign Het
Izumo3 A G 4: 92,034,532 (GRCm39) probably null Het
Kif11 T C 19: 37,372,681 (GRCm39) probably benign Het
Krt1c C A 15: 101,719,825 (GRCm39) G615V unknown Het
Midn A G 10: 79,992,477 (GRCm39) probably benign Het
Mycbp2 A T 14: 103,378,305 (GRCm39) probably null Het
Nrp1 A T 8: 129,158,513 (GRCm39) S267C possibly damaging Het
Or8b8 A G 9: 37,809,272 (GRCm39) T191A possibly damaging Het
Pcdh20 A T 14: 88,708,344 (GRCm39) M28K probably benign Het
Prmt5 G A 14: 54,747,408 (GRCm39) probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rps6ka5 T C 12: 100,537,173 (GRCm39) E519G probably damaging Het
Samm50 T A 15: 84,080,039 (GRCm39) I39N probably benign Het
Shc2 A T 10: 79,458,138 (GRCm39) M515K probably damaging Het
Sorbs2 T A 8: 46,248,631 (GRCm39) F608L probably damaging Het
Sos2 T C 12: 69,654,172 (GRCm39) K727E probably damaging Het
Sox13 A T 1: 133,317,182 (GRCm39) H150Q possibly damaging Het
Tmem132e T C 11: 82,325,495 (GRCm39) V165A probably damaging Het
Trmt11 T C 10: 30,473,747 (GRCm39) T43A probably benign Het
Tyrp1 G T 4: 80,763,135 (GRCm39) V341L probably benign Het
Ugt2b35 C A 5: 87,159,250 (GRCm39) H481Q probably benign Het
Zzz3 T A 3: 152,161,476 (GRCm39) I290N possibly damaging Het
Other mutations in Mier1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Mier1 APN 4 103,012,738 (GRCm39) missense possibly damaging 0.58
IGL01996:Mier1 APN 4 102,984,473 (GRCm39) missense possibly damaging 0.93
IGL02228:Mier1 APN 4 102,988,259 (GRCm39) missense possibly damaging 0.85
R0194:Mier1 UTSW 4 102,996,716 (GRCm39) splice site probably null
R0505:Mier1 UTSW 4 103,012,820 (GRCm39) splice site probably benign
R0684:Mier1 UTSW 4 102,996,631 (GRCm39) missense probably damaging 0.99
R0691:Mier1 UTSW 4 102,996,699 (GRCm39) missense probably benign 0.07
R2997:Mier1 UTSW 4 102,988,233 (GRCm39) missense probably damaging 1.00
R4273:Mier1 UTSW 4 103,019,628 (GRCm39) missense possibly damaging 0.93
R4728:Mier1 UTSW 4 102,997,402 (GRCm39) missense probably damaging 1.00
R4769:Mier1 UTSW 4 102,997,417 (GRCm39) missense probably benign 0.01
R4798:Mier1 UTSW 4 102,988,195 (GRCm39) missense probably damaging 1.00
R5075:Mier1 UTSW 4 102,996,670 (GRCm39) missense probably benign 0.02
R5260:Mier1 UTSW 4 103,019,907 (GRCm39) missense probably benign 0.04
R5663:Mier1 UTSW 4 103,007,739 (GRCm39) missense probably damaging 0.96
R5924:Mier1 UTSW 4 103,016,899 (GRCm39) nonsense probably null
R7253:Mier1 UTSW 4 102,996,544 (GRCm39) splice site probably null
R7304:Mier1 UTSW 4 102,996,599 (GRCm39) nonsense probably null
R7641:Mier1 UTSW 4 102,996,637 (GRCm39) missense possibly damaging 0.89
R7998:Mier1 UTSW 4 103,019,812 (GRCm39) missense probably benign 0.09
R8000:Mier1 UTSW 4 102,988,240 (GRCm39) missense probably damaging 1.00
R8557:Mier1 UTSW 4 102,996,543 (GRCm39) splice site probably null
R9353:Mier1 UTSW 4 103,012,800 (GRCm39) missense probably damaging 0.97
R9537:Mier1 UTSW 4 103,019,758 (GRCm39) missense probably benign 0.00
R9759:Mier1 UTSW 4 103,019,725 (GRCm39) missense probably benign 0.13
Posted On 2013-12-09