Incidental Mutation 'R6084:Mtmr11'
ID 482365
Institutional Source Beutler Lab
Gene Symbol Mtmr11
Ensembl Gene ENSMUSG00000045934
Gene Name myotubularin related protein 11
Synonyms
MMRRC Submission 044243-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R6084 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 96069321-96079034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 96075400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 360 (R360L)
Ref Sequence ENSEMBL: ENSMUSP00000062341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054356] [ENSMUST00000076372] [ENSMUST00000129925]
AlphaFold Q3V1L6
Predicted Effect probably damaging
Transcript: ENSMUST00000054356
AA Change: R360L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934
AA Change: R360L

DomainStartEndE-ValueType
Pfam:Myotub-related 191 323 1.7e-12 PFAM
Pfam:Myotub-related 312 488 1.3e-44 PFAM
Pfam:3-PAP 550 683 2.3e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076372
SMART Domains Protein: ENSMUSP00000075709
Gene: ENSMUSG00000068856

DomainStartEndE-ValueType
RRM 14 87 1.46e-25 SMART
RRM 101 175 5.07e-25 SMART
low complexity region 214 307 N/A INTRINSIC
low complexity region 310 423 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123520
Predicted Effect probably benign
Transcript: ENSMUST00000129925
SMART Domains Protein: ENSMUSP00000118258
Gene: ENSMUSG00000045934

DomainStartEndE-ValueType
Pfam:Myotub-related 162 264 4.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180958
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,828,297 (GRCm39) D958G possibly damaging Het
Bag4 T C 8: 26,261,259 (GRCm39) T161A probably benign Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Cacna2d2 T C 9: 107,374,720 (GRCm39) probably null Het
Cass4 G T 2: 172,268,832 (GRCm39) A307S probably benign Het
Cbln4 A T 2: 171,884,016 (GRCm39) V68E probably damaging Het
Cc2d2a T A 5: 43,826,015 (GRCm39) N2K probably benign Het
Ccnf T A 17: 24,450,811 (GRCm39) D389V probably damaging Het
Cdipt T C 7: 126,578,773 (GRCm39) S161P probably benign Het
Ceacam19 T C 7: 19,616,812 (GRCm39) I161V probably benign Het
Cfap65 A G 1: 74,959,564 (GRCm39) I862T probably damaging Het
Cfi T A 3: 129,652,019 (GRCm39) L230Q probably benign Het
Chac2 G A 11: 30,936,159 (GRCm39) R30W probably damaging Het
Cmc2 G A 8: 117,616,566 (GRCm39) probably benign Het
Col1a2 A T 6: 4,505,840 (GRCm39) M1L probably benign Het
Cox8a C A 19: 7,194,783 (GRCm39) R32L possibly damaging Het
Cubn T A 2: 13,435,708 (GRCm39) N1083Y probably damaging Het
D630003M21Rik T C 2: 158,059,504 (GRCm39) D132G probably damaging Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Dnaaf3 T C 7: 4,527,212 (GRCm39) D358G probably benign Het
Dysf T A 6: 83,996,586 (GRCm39) F29L probably damaging Het
Dysf T C 6: 84,089,101 (GRCm39) L888P probably damaging Het
Ebf4 A G 2: 130,151,643 (GRCm39) D277G probably damaging Het
Ecm2 T A 13: 49,668,570 (GRCm39) L91* probably null Het
Foxs1 T C 2: 152,774,762 (GRCm39) D97G possibly damaging Het
Frs2 A C 10: 116,912,714 (GRCm39) probably null Het
Grp A T 18: 66,013,008 (GRCm39) D58V probably damaging Het
Hif1a T G 12: 73,988,616 (GRCm39) F537C probably damaging Het
Icam4 G A 9: 20,940,835 (GRCm39) S29N probably benign Het
Itfg1 T C 8: 86,452,799 (GRCm39) E523G probably benign Het
Jph2 T C 2: 163,217,600 (GRCm39) K359E probably damaging Het
Katnip G A 7: 125,414,037 (GRCm39) G394R probably benign Het
Kcnq2 A T 2: 180,729,449 (GRCm39) V490E possibly damaging Het
Klhl18 C T 9: 110,257,795 (GRCm39) M548I possibly damaging Het
Lpin3 A G 2: 160,737,721 (GRCm39) Y197C probably benign Het
Lrp1 T C 10: 127,396,422 (GRCm39) N2381D probably benign Het
Man1a A T 10: 53,795,307 (GRCm39) W649R probably damaging Het
Map4 T C 9: 109,893,360 (GRCm39) L542P probably damaging Het
Mboat2 A T 12: 24,928,284 (GRCm39) H52L probably damaging Het
Mok C G 12: 110,781,380 (GRCm39) S91T probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Ncoa4-ps A G 12: 119,225,386 (GRCm39) noncoding transcript Het
Or1j13 A G 2: 36,369,524 (GRCm39) V206A probably benign Het
Or4g7 A T 2: 111,309,734 (GRCm39) N202Y probably damaging Het
Or52z1 C T 7: 103,437,162 (GRCm39) M107I probably benign Het
Or55b4 T C 7: 102,133,596 (GRCm39) T244A probably damaging Het
Or7d11 A T 9: 19,966,179 (GRCm39) H75Q possibly damaging Het
Or7g21 A G 9: 19,032,623 (GRCm39) D121G probably damaging Het
Padi3 G T 4: 140,523,154 (GRCm39) T292N probably damaging Het
Pard6g A C 18: 80,160,420 (GRCm39) T178P possibly damaging Het
Pkd1l2 A T 8: 117,740,726 (GRCm39) Y2124N probably damaging Het
Plxdc1 G A 11: 97,819,289 (GRCm39) T398I probably damaging Het
Prickle2 A T 6: 92,393,829 (GRCm39) C225* probably null Het
Prmt2 G A 10: 76,046,278 (GRCm39) T317I probably benign Het
Psg22 T G 7: 18,453,705 (GRCm39) N172K probably benign Het
Ptpn9 C T 9: 56,940,447 (GRCm39) R196* probably null Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rapgef4 T A 2: 72,026,622 (GRCm39) probably null Het
Rlf A T 4: 121,006,412 (GRCm39) M856K possibly damaging Het
Rnf149 A G 1: 39,616,255 (GRCm39) L34P probably benign Het
Rock1 T C 18: 10,101,007 (GRCm39) E636G probably benign Het
Rsad2 A T 12: 26,504,122 (GRCm39) Y136N probably damaging Het
Ryr3 T C 2: 112,738,838 (GRCm39) H563R probably damaging Het
Slc18b1 A G 10: 23,680,110 (GRCm39) M102V probably benign Het
Slc34a2 T A 5: 53,224,989 (GRCm39) C377S possibly damaging Het
Slco1c1 T C 6: 141,492,496 (GRCm39) V293A probably benign Het
Spidr A T 16: 15,957,888 (GRCm39) S80T possibly damaging Het
Syne1 C T 10: 5,298,994 (GRCm39) E1031K probably damaging Het
Synj2 G A 17: 6,067,889 (GRCm39) V121I probably damaging Het
Synj2 A T 17: 6,088,373 (GRCm39) T1430S probably damaging Het
Tecpr2 G T 12: 110,895,543 (GRCm39) K343N probably damaging Het
Tmem132d T A 5: 127,861,164 (GRCm39) I986F probably benign Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Ttll10 T A 4: 156,129,814 (GRCm39) D283V probably benign Het
Ttn T A 2: 76,645,123 (GRCm39) K673* probably null Het
Ubqlnl T A 7: 103,797,905 (GRCm39) M531L probably benign Het
Vmn2r120 A T 17: 57,832,721 (GRCm39) W153R probably benign Het
Vmn2r2 A C 3: 64,024,467 (GRCm39) S705A probably benign Het
Vmn2r32 T A 7: 7,467,209 (GRCm39) D773V probably benign Het
Vmn2r54 T A 7: 12,366,205 (GRCm39) Q243L probably damaging Het
Wdr24 C A 17: 26,043,504 (GRCm39) R109S probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp426 G T 9: 20,381,923 (GRCm39) Q341K possibly damaging Het
Zfp616 A T 11: 73,974,672 (GRCm39) K314* probably null Het
Other mutations in Mtmr11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02539:Mtmr11 APN 3 96,072,308 (GRCm39) intron probably benign
R1017:Mtmr11 UTSW 3 96,071,794 (GRCm39) missense probably damaging 1.00
R1589:Mtmr11 UTSW 3 96,075,429 (GRCm39) missense probably benign 0.16
R1836:Mtmr11 UTSW 3 96,072,103 (GRCm39) missense probably damaging 0.98
R2264:Mtmr11 UTSW 3 96,076,413 (GRCm39) missense possibly damaging 0.53
R3623:Mtmr11 UTSW 3 96,072,583 (GRCm39) missense probably damaging 1.00
R4195:Mtmr11 UTSW 3 96,075,207 (GRCm39) splice site probably benign
R4243:Mtmr11 UTSW 3 96,075,393 (GRCm39) missense probably damaging 1.00
R4245:Mtmr11 UTSW 3 96,075,393 (GRCm39) missense probably damaging 1.00
R4414:Mtmr11 UTSW 3 96,075,207 (GRCm39) splice site probably benign
R4417:Mtmr11 UTSW 3 96,075,207 (GRCm39) splice site probably benign
R4461:Mtmr11 UTSW 3 96,075,207 (GRCm39) splice site probably benign
R4468:Mtmr11 UTSW 3 96,075,207 (GRCm39) splice site probably benign
R4963:Mtmr11 UTSW 3 96,070,567 (GRCm39) intron probably benign
R5134:Mtmr11 UTSW 3 96,077,223 (GRCm39) missense probably damaging 1.00
R5154:Mtmr11 UTSW 3 96,071,636 (GRCm39) missense probably benign 0.03
R5508:Mtmr11 UTSW 3 96,071,084 (GRCm39) missense probably damaging 1.00
R5821:Mtmr11 UTSW 3 96,075,185 (GRCm39) missense possibly damaging 0.91
R5868:Mtmr11 UTSW 3 96,078,518 (GRCm39) missense possibly damaging 0.65
R5991:Mtmr11 UTSW 3 96,075,905 (GRCm39) splice site probably null
R6354:Mtmr11 UTSW 3 96,075,992 (GRCm39) missense probably benign 0.07
R6446:Mtmr11 UTSW 3 96,078,504 (GRCm39) missense probably benign 0.00
R6821:Mtmr11 UTSW 3 96,077,723 (GRCm39) missense probably benign
R7033:Mtmr11 UTSW 3 96,077,262 (GRCm39) missense probably damaging 1.00
R7312:Mtmr11 UTSW 3 96,071,855 (GRCm39) missense possibly damaging 0.68
R7878:Mtmr11 UTSW 3 96,076,515 (GRCm39) missense probably benign 0.00
R7899:Mtmr11 UTSW 3 96,077,744 (GRCm39) missense probably damaging 1.00
R8479:Mtmr11 UTSW 3 96,071,051 (GRCm39) missense probably damaging 1.00
R8923:Mtmr11 UTSW 3 96,072,188 (GRCm39) missense probably damaging 1.00
R9376:Mtmr11 UTSW 3 96,072,372 (GRCm39) missense probably benign
R9708:Mtmr11 UTSW 3 96,076,403 (GRCm39) missense possibly damaging 0.93
X0019:Mtmr11 UTSW 3 96,071,809 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTATGTCAGGTATGCCTAGCC -3'
(R):5'- AGGATGAATTGGCACTCACAG -3'

Posted On 2017-07-14