Incidental Mutation 'IGL02647:Mtmr1'
ID 301977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr1
Ensembl Gene ENSMUSG00000015214
Gene Name myotubularin related protein 1
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02647
Quality Score
Status
Chromosome X
Chromosomal Location 70408366-70462802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70436939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 256 (N256S)
Ref Sequence ENSEMBL: ENSMUSP00000110248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015358] [ENSMUST00000114601] [ENSMUST00000130909] [ENSMUST00000146213] [ENSMUST00000149323] [ENSMUST00000156756]
AlphaFold Q9Z2C4
Predicted Effect probably damaging
Transcript: ENSMUST00000015358
AA Change: N256S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015358
Gene: ENSMUSG00000015214
AA Change: N256S

DomainStartEndE-ValueType
low complexity region 6 29 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
GRAM 97 165 2.78e-12 SMART
Pfam:Myotub-related 216 556 6.9e-149 PFAM
low complexity region 649 661 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114601
AA Change: N256S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110248
Gene: ENSMUSG00000015214
AA Change: N256S

DomainStartEndE-ValueType
low complexity region 6 29 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
GRAM 97 165 2.78e-12 SMART
Pfam:Myotub-related 217 554 9.9e-147 PFAM
low complexity region 651 663 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130179
Predicted Effect probably benign
Transcript: ENSMUST00000130909
SMART Domains Protein: ENSMUSP00000121342
Gene: ENSMUSG00000015214

DomainStartEndE-ValueType
GRAM 74 142 2.78e-12 SMART
Predicted Effect unknown
Transcript: ENSMUST00000132837
AA Change: N265S
SMART Domains Protein: ENSMUSP00000121165
Gene: ENSMUSG00000015214
AA Change: N265S

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 29 36 N/A INTRINSIC
GRAM 107 175 2.78e-12 SMART
Pfam:Myotub-related 227 309 3.9e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138565
Predicted Effect probably benign
Transcript: ENSMUST00000146213
SMART Domains Protein: ENSMUSP00000117342
Gene: ENSMUSG00000015214

DomainStartEndE-ValueType
low complexity region 6 29 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
GRAM 105 173 2.78e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156307
Predicted Effect probably benign
Transcript: ENSMUST00000149323
SMART Domains Protein: ENSMUSP00000123363
Gene: ENSMUSG00000015214

DomainStartEndE-ValueType
GRAM 57 125 2.78e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156756
SMART Domains Protein: ENSMUSP00000115458
Gene: ENSMUSG00000015214

DomainStartEndE-ValueType
GRAM 65 133 2.78e-12 SMART
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 member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous and male mice hemizygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A T 14: 29,712,847 (GRCm39) R497W probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bmx T C X: 162,988,231 (GRCm39) E495G probably damaging Het
Cbx5 T C 15: 103,109,330 (GRCm39) probably null Het
Cenpj C T 14: 56,767,536 (GRCm39) V1203M probably damaging Het
Ces1b T C 8: 93,783,672 (GRCm39) H516R probably benign Het
D430041D05Rik T C 2: 104,078,611 (GRCm39) N1235S probably damaging Het
Depdc1a A T 3: 159,228,503 (GRCm39) K418N probably damaging Het
Dysf G A 6: 84,114,355 (GRCm39) V1215M probably damaging Het
Flacc1 T C 1: 58,709,613 (GRCm39) T181A probably benign Het
Foxf2 A T 13: 31,811,218 (GRCm39) N386Y probably damaging Het
Frem1 A T 4: 82,919,991 (GRCm39) V455E probably damaging Het
Fzd7 C A 1: 59,523,554 (GRCm39) P479Q probably damaging Het
Hnmt G A 2: 23,904,319 (GRCm39) S114F possibly damaging Het
Irf3 A G 7: 44,649,800 (GRCm39) N6S probably benign Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lrba A G 3: 86,267,038 (GRCm39) D1576G probably benign Het
Lsg1 A T 16: 30,404,370 (GRCm39) probably null Het
Mal2 T C 15: 54,451,833 (GRCm39) F85L probably damaging Het
Me2 A C 18: 73,930,974 (GRCm39) S106R probably benign Het
Med21 T C 6: 146,550,731 (GRCm39) S81P probably benign Het
Mos T C 4: 3,870,961 (GRCm39) Y285C probably damaging Het
Or7e174 T A 9: 20,012,505 (GRCm39) M150K probably benign Het
Prl3d2 A C 13: 27,309,999 (GRCm39) T155P probably benign Het
R3hdm2 C T 10: 127,295,353 (GRCm39) S240L probably damaging Het
Semp2l2a T C 8: 13,886,979 (GRCm39) T371A probably damaging Het
Skint6 A T 4: 112,985,088 (GRCm39) probably benign Het
Ubr5 A G 15: 37,992,326 (GRCm39) S1933P probably damaging Het
Veph1 A T 3: 66,066,869 (GRCm39) probably benign Het
Xpo7 A G 14: 70,922,905 (GRCm39) F557S probably damaging Het
Zfp647 T C 15: 76,801,915 (GRCm39) E30G probably damaging Het
Zfp655 A T 5: 145,179,816 (GRCm39) I75L probably benign Het
Zfp981 C A 4: 146,621,709 (GRCm39) Y211* probably null Het
Other mutations in Mtmr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02211:Mtmr1 APN X 70,455,863 (GRCm39) missense possibly damaging 0.55
R0370:Mtmr1 UTSW X 70,431,837 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16