Incidental Mutation 'R7052:Mtmr7'
ID 547658
Institutional Source Beutler Lab
Gene Symbol Mtmr7
Ensembl Gene ENSMUSG00000039431
Gene Name myotubularin related protein 7
Synonyms
MMRRC Submission 045149-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7052 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 41004136-41087840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41008874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 315 (H315R)
Ref Sequence ENSEMBL: ENSMUSP00000134281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048890] [ENSMUST00000048898] [ENSMUST00000098817] [ENSMUST00000173487] [ENSMUST00000174205]
AlphaFold Q9Z2C9
Predicted Effect probably benign
Transcript: ENSMUST00000048890
SMART Domains Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431

DomainStartEndE-ValueType
Pfam:Myotub-related 108 450 4.9e-145 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000048898
AA Change: H479R

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: H479R

DomainStartEndE-ValueType
Pfam:Myotub-related 109 448 1.6e-143 PFAM
coiled coil region 514 553 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098817
SMART Domains Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
Blast:UBCc 29 128 6e-6 BLAST
low complexity region 155 164 N/A INTRINSIC
low complexity region 171 189 N/A INTRINSIC
Pfam:Mod_r 235 380 2.7e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173487
AA Change: H315R

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
AA Change: H315R

DomainStartEndE-ValueType
Pfam:Myotub-related 1 286 8.1e-125 PFAM
coiled coil region 350 383 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174205
AA Change: H479R

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: H479R

DomainStartEndE-ValueType
Pfam:Myotub-related 108 450 7.2e-145 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,604,261 (GRCm39) R658H probably benign Het
Als2cl C T 9: 110,727,151 (GRCm39) R906C probably damaging Het
Asb8 T C 15: 98,034,282 (GRCm39) H91R probably damaging Het
Atp8b3 C T 10: 80,355,858 (GRCm39) E1285K probably benign Het
Bves G A 10: 45,222,386 (GRCm39) R172H possibly damaging Het
C6 A T 15: 4,763,177 (GRCm39) N59I probably damaging Het
Capn15 A T 17: 26,180,724 (GRCm39) V782D probably damaging Het
Ccdc168 T A 1: 44,096,466 (GRCm39) Y1544F possibly damaging Het
Ccdc18 T C 5: 108,309,554 (GRCm39) L383S probably benign Het
Coro6 C A 11: 77,357,056 (GRCm39) N119K probably benign Het
Cps1 T A 1: 67,237,569 (GRCm39) D1023E probably damaging Het
Dctn1 T A 6: 83,172,262 (GRCm39) probably null Het
Ero1a T A 14: 45,544,040 (GRCm39) K55* probably null Het
Fam209 G A 2: 172,314,751 (GRCm39) G80D possibly damaging Het
Fam89b G A 19: 5,779,276 (GRCm39) R94C probably damaging Het
Fut1 A G 7: 45,269,181 (GRCm39) *323W probably null Het
Garin2 C T 12: 78,766,176 (GRCm39) T315I probably benign Het
Gm47985 T A 1: 151,058,890 (GRCm39) F177Y possibly damaging Het
Gstm7 T A 3: 107,838,633 (GRCm39) D37V probably damaging Het
H2-Aa T A 17: 34,503,484 (GRCm39) S38C possibly damaging Het
Ighg2c T C 12: 113,252,343 (GRCm39) T70A Het
Ino80 A G 2: 119,257,068 (GRCm39) probably null Het
Irf8 C T 8: 121,466,581 (GRCm39) R9W probably damaging Het
Kcnt2 A G 1: 140,310,785 (GRCm39) N197S probably damaging Het
Kif11 T A 19: 37,373,040 (GRCm39) C86* probably null Het
Lonp1 A T 17: 56,933,549 (GRCm39) F109I probably benign Het
Mlkl G A 8: 112,046,074 (GRCm39) S312L possibly damaging Het
Mroh9 T A 1: 162,866,525 (GRCm39) Q706L possibly damaging Het
Myh7b G C 2: 155,456,053 (GRCm39) R146P probably damaging Het
Naip5 A G 13: 100,358,855 (GRCm39) Y794H probably benign Het
Nup153 A T 13: 46,840,949 (GRCm39) N886K probably benign Het
Nup205 A G 6: 35,192,077 (GRCm39) R1047G possibly damaging Het
Oog3 A T 4: 143,887,027 (GRCm39) L31Q probably damaging Het
Or5b123 T A 19: 13,596,990 (GRCm39) S155T probably benign Het
Or6c38 T C 10: 128,929,744 (GRCm39) Y33C probably damaging Het
Palmd T C 3: 116,717,012 (GRCm39) N495S probably benign Het
Patj A G 4: 98,565,497 (GRCm39) Q1070R probably benign Het
Pax1 G A 2: 147,207,824 (GRCm39) R232H probably damaging Het
Pcdhb1 A G 18: 37,399,582 (GRCm39) N511S probably damaging Het
Pigs C T 11: 78,232,211 (GRCm39) L448F probably damaging Het
Pih1d2 A G 9: 50,533,077 (GRCm39) Y235C probably damaging Het
Pkd2l2 T A 18: 34,558,212 (GRCm39) I297K possibly damaging Het
Pou2f1 C T 1: 165,742,684 (GRCm39) V82I possibly damaging Het
Pramel1 T C 4: 143,123,074 (GRCm39) L17P probably damaging Het
Riok1 C T 13: 38,220,991 (GRCm39) probably benign Het
Scg3 C A 9: 75,568,664 (GRCm39) E358* probably null Het
Siglec15 T C 18: 78,091,946 (GRCm39) E85G probably damaging Het
Snx20 T C 8: 89,356,606 (GRCm39) H70R probably benign Het
Spi1 T A 2: 90,943,685 (GRCm39) S76R probably damaging Het
Stat5a T C 11: 100,770,111 (GRCm39) S463P probably damaging Het
Svs5 A G 2: 164,080,126 (GRCm39) I13T unknown Het
Tmem132e T C 11: 82,328,189 (GRCm39) S406P probably damaging Het
Top1mt T C 15: 75,540,560 (GRCm39) N237S possibly damaging Het
Trav6d-4 G A 14: 52,991,053 (GRCm39) V30M possibly damaging Het
Trp73 A T 4: 154,149,140 (GRCm39) M217K probably damaging Het
Vmn1r58 A G 7: 5,414,134 (GRCm39) I32T probably benign Het
Vmn1r9 T C 6: 57,048,396 (GRCm39) M157T probably benign Het
Vmn2r100 C T 17: 19,751,556 (GRCm39) S533F possibly damaging Het
Vmn2r112 T A 17: 22,821,507 (GRCm39) M160K probably benign Het
Vps13d C A 4: 144,889,914 (GRCm39) A597S probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) probably benign 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
R4849:Mtmr7 UTSW 8 41,062,040 (GRCm39) missense probably benign 0.00
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
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'- ATAGCCACGCATCTTCCCTG -3'
(R):5'- GTAAGAAAGTTTCTGTACCATGCC -3'

Sequencing Primer
(F):5'- GGTGGGTTTTATGTCCAGCAAAGC -3'
(R):5'- GCCATTGACCAGTGGTAATGTCAC -3'
Posted On 2019-05-13