Incidental Mutation 'R4849:Mtmr7'
ID 373397
Institutional Source Beutler Lab
Gene Symbol Mtmr7
Ensembl Gene ENSMUSG00000039431
Gene Name myotubularin related protein 7
Synonyms
MMRRC Submission 042461-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4849 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41004136-41087840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41062040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 15 (V15A)
Ref Sequence ENSEMBL: ENSMUSP00000043367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048890] [ENSMUST00000048898] [ENSMUST00000173957] [ENSMUST00000174205]
AlphaFold Q9Z2C9
Predicted Effect probably benign
Transcript: ENSMUST00000048890
AA Change: V15A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: V15A

DomainStartEndE-ValueType
Pfam:Myotub-related 108 450 4.9e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048898
AA Change: V15A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: V15A

DomainStartEndE-ValueType
Pfam:Myotub-related 109 448 1.6e-143 PFAM
coiled coil region 514 553 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173957
SMART Domains Protein: ENSMUSP00000134020
Gene: ENSMUSG00000039431

DomainStartEndE-ValueType
Pfam:Myotub-related 67 260 4e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174205
AA Change: V15A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: V15A

DomainStartEndE-ValueType
Pfam:Myotub-related 108 450 7.2e-145 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174537
Meta Mutation Damage Score 0.1536 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
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 family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G T 7: 28,314,877 (GRCm39) R239S possibly damaging Het
Angptl1 C A 1: 156,684,735 (GRCm39) N301K probably benign Het
Ankrd26 T A 6: 118,509,257 (GRCm39) T603S probably benign Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Atxn3 A G 12: 101,900,627 (GRCm39) S219P probably benign Het
Birc6 T C 17: 74,954,383 (GRCm39) S3397P probably damaging Het
Bivm A G 1: 44,182,033 (GRCm39) I414V possibly damaging Het
Cemip A G 7: 83,584,945 (GRCm39) F1324L possibly damaging Het
Ckap5 T A 2: 91,445,616 (GRCm39) N1724K probably damaging Het
Corin T A 5: 72,460,178 (GRCm39) M1035L probably damaging Het
Ctnna3 T C 10: 64,709,094 (GRCm39) I711T probably damaging Het
Cts6 A T 13: 61,349,415 (GRCm39) W98R probably null Het
Dip2a A G 10: 76,130,367 (GRCm39) S580P probably damaging Het
Dock6 A G 9: 21,723,068 (GRCm39) probably null Het
Dusp15 T A 2: 152,791,002 (GRCm39) T32S probably damaging Het
Eogt T A 6: 97,093,016 (GRCm39) N387I probably damaging Het
Evx2 T C 2: 74,489,675 (GRCm39) D29G probably benign Het
Fat1 A G 8: 45,466,007 (GRCm39) N1422S probably benign Het
Fat2 T C 11: 55,201,463 (GRCm39) D537G probably damaging Het
Fat3 A C 9: 16,289,244 (GRCm39) I93S probably benign Het
Fem1b T C 9: 62,704,576 (GRCm39) E228G probably damaging Het
Fh1 A G 1: 175,448,072 (GRCm39) T25A probably benign Het
Fndc3b A G 3: 27,514,097 (GRCm39) W695R probably damaging Het
Gaa G A 11: 119,163,813 (GRCm39) V222I possibly damaging Het
Ggnbp1 T C 17: 27,251,947 (GRCm39) probably null Het
Gipc1 A G 8: 84,388,756 (GRCm39) Y154C probably benign Het
Gm5356 G T 8: 89,913,670 (GRCm39) noncoding transcript Het
Gnl1 T A 17: 36,298,603 (GRCm39) probably null Het
Gpcpd1 C T 2: 132,376,019 (GRCm39) G605R probably damaging Het
Guca1a T C 17: 47,705,662 (GRCm39) T177A possibly damaging Het
Ifit1bl1 T C 19: 34,572,076 (GRCm39) E127G probably damaging Het
Ift81 A T 5: 122,729,282 (GRCm39) I350N probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A G 6: 125,020,946 (GRCm39) R23G probably damaging Het
Ins1 A G 19: 52,253,384 (GRCm39) N108S probably damaging Het
Iqce A T 5: 140,679,214 (GRCm39) M72K possibly damaging Het
Itga3 C A 11: 94,967,097 (GRCm39) M22I probably benign Het
Kctd18 T C 1: 58,001,152 (GRCm39) E201G probably damaging Het
Klc1 A G 12: 111,748,129 (GRCm39) N344S probably damaging Het
Klrb1f A T 6: 129,033,347 (GRCm39) I192F probably damaging Het
Klrg2 A T 6: 38,607,214 (GRCm39) probably null Het
Kntc1 A C 5: 123,897,128 (GRCm39) I164L probably benign Het
Ltf T A 9: 110,855,058 (GRCm39) I357K probably benign Het
Mr1 T C 1: 155,006,436 (GRCm39) T304A probably benign Het
Msh6 C T 17: 88,290,947 (GRCm39) R178C possibly damaging Het
Mtch1 T C 17: 29,566,565 (GRCm39) D66G probably benign Het
Mtss2 A T 8: 111,452,875 (GRCm39) H40L possibly damaging Het
Mxra8 A G 4: 155,925,331 (GRCm39) probably benign Het
Myo3b T C 2: 70,075,253 (GRCm39) L535P probably damaging Het
Neurl2 T A 2: 164,674,739 (GRCm39) probably null Het
Nfia A C 4: 97,970,048 (GRCm39) T503P probably damaging Het
Noa1 T C 5: 77,454,179 (GRCm39) E487G possibly damaging Het
Nuak1 A T 10: 84,211,143 (GRCm39) V315D probably damaging Het
Nup205 A G 6: 35,207,505 (GRCm39) N1519S possibly damaging Het
Or10x1 T A 1: 174,196,966 (GRCm39) I161K probably damaging Het
Or1l4b T C 2: 37,036,266 (GRCm39) L14P probably damaging Het
Or1o1 T C 17: 37,716,589 (GRCm39) V50A probably benign Het
Or51f1e A G 7: 102,747,526 (GRCm39) I193V possibly damaging Het
Or6b13 G T 7: 139,782,340 (GRCm39) C114* probably null Het
Or9s18 G A 13: 65,300,493 (GRCm39) V152M possibly damaging Het
Peli1 T A 11: 21,098,528 (GRCm39) probably benign Het
Ppp6r1 A G 7: 4,646,206 (GRCm39) L175P probably damaging Het
Prkcd A G 14: 30,321,700 (GRCm39) L498P probably damaging Het
Prss30 T A 17: 24,191,769 (GRCm39) I251F probably benign Het
Psme3 A T 11: 101,207,907 (GRCm39) N21Y probably benign Het
Ptpra T C 2: 130,374,081 (GRCm39) Y271H probably damaging Het
Ralgapa1 T A 12: 55,745,588 (GRCm39) N1303Y probably damaging Het
Rims4 T C 2: 163,707,463 (GRCm39) I121V probably benign Het
Rnf123 A T 9: 107,933,290 (GRCm39) L1149Q probably damaging Het
Ryr3 T A 2: 112,738,807 (GRCm39) L593F probably damaging Het
Sec23b T C 2: 144,427,519 (GRCm39) F582S probably damaging Het
Sgpl1 T C 10: 60,940,297 (GRCm39) K335R probably benign Het
Sirpa C T 2: 129,451,163 (GRCm39) T141I probably damaging Het
Slit1 G T 19: 41,637,983 (GRCm39) A270E probably benign Het
Snap91 T C 9: 86,674,613 (GRCm39) T533A possibly damaging Het
Sphkap T G 1: 83,255,105 (GRCm39) E881D probably benign Het
Sptan1 C A 2: 29,901,054 (GRCm39) R1407S probably damaging Het
Tfdp1 A G 8: 13,423,895 (GRCm39) T353A probably benign Het
Ttyh1 A G 7: 4,125,533 (GRCm39) I62V possibly damaging Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp398 T C 6: 47,836,446 (GRCm39) I82T possibly damaging Het
Zp1 A G 19: 10,896,198 (GRCm39) Y176H possibly damaging Het
Other mutations in Mtmr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Mtmr7 APN 8 41,050,388 (GRCm39) missense probably damaging 1.00
IGL01340:Mtmr7 APN 8 41,050,465 (GRCm39) missense probably damaging 1.00
IGL01773:Mtmr7 APN 8 41,034,461 (GRCm39) missense probably damaging 1.00
IGL02040:Mtmr7 APN 8 41,013,926 (GRCm39) missense probably benign 0.01
IGL02195:Mtmr7 APN 8 41,013,946 (GRCm39) missense probably damaging 0.96
IGL03394:Mtmr7 APN 8 41,061,972 (GRCm39) missense probably damaging 0.97
BB001:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
BB003:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
BB011:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
BB013:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R0116:Mtmr7 UTSW 8 41,034,447 (GRCm39) splice site probably benign
R0379:Mtmr7 UTSW 8 41,004,642 (GRCm39) missense probably damaging 1.00
R1443:Mtmr7 UTSW 8 41,013,923 (GRCm39) missense probably damaging 1.00
R1763:Mtmr7 UTSW 8 41,004,852 (GRCm39) missense probably benign
R4372:Mtmr7 UTSW 8 41,007,386 (GRCm39) missense probably damaging 1.00
R4482:Mtmr7 UTSW 8 41,007,425 (GRCm39) missense probably benign 0.32
R4502:Mtmr7 UTSW 8 41,011,203 (GRCm39) missense possibly damaging 0.94
R4622:Mtmr7 UTSW 8 41,034,583 (GRCm39) missense probably damaging 1.00
R4833:Mtmr7 UTSW 8 41,043,505 (GRCm39) missense probably damaging 1.00
R4991:Mtmr7 UTSW 8 41,007,386 (GRCm39) missense probably damaging 1.00
R5424:Mtmr7 UTSW 8 41,059,873 (GRCm39) missense probably benign
R5707:Mtmr7 UTSW 8 41,011,203 (GRCm39) missense possibly damaging 0.94
R5929:Mtmr7 UTSW 8 41,011,399 (GRCm39) critical splice acceptor site probably null
R5985:Mtmr7 UTSW 8 41,004,873 (GRCm39) missense probably benign
R6013:Mtmr7 UTSW 8 41,034,570 (GRCm39) missense probably damaging 1.00
R6249:Mtmr7 UTSW 8 41,034,524 (GRCm39) missense probably damaging 1.00
R7052:Mtmr7 UTSW 8 41,008,874 (GRCm39) missense possibly damaging 0.83
R7249:Mtmr7 UTSW 8 41,043,520 (GRCm39) missense probably benign 0.11
R7538:Mtmr7 UTSW 8 41,050,427 (GRCm39) missense probably damaging 1.00
R7698:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7699:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7699:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7700:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7708:Mtmr7 UTSW 8 41,043,554 (GRCm39) missense probably damaging 0.98
R7890:Mtmr7 UTSW 8 41,004,776 (GRCm39) missense possibly damaging 0.91
R7924:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7926:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R8059:Mtmr7 UTSW 8 41,034,564 (GRCm39) missense probably damaging 1.00
R8446:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R8493:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R9009:Mtmr7 UTSW 8 41,008,904 (GRCm39) missense possibly damaging 0.92
R9527:Mtmr7 UTSW 8 41,011,345 (GRCm39) missense possibly damaging 0.74
Z1177:Mtmr7 UTSW 8 41,050,422 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTTAGGGCTGTGAAGGAAATTCC -3'
(R):5'- CACTTACGTAAATGTTTTGTGGCAC -3'

Sequencing Primer
(F):5'- TTCTAATACATCTCAGAAATCGCTCC -3'
(R):5'- GTGGCACATTTAAAATCACATTTTCG -3'
Posted On 2016-03-01