Incidental Mutation 'R4414:Mtmr11'
ID 328053
Institutional Source Beutler Lab
Gene Symbol Mtmr11
Ensembl Gene ENSMUSG00000045934
Gene Name myotubularin related protein 11
Synonyms
MMRRC Submission 041694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R4414 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96069321-96079034 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 96075207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054356] [ENSMUST00000076372] [ENSMUST00000129925]
AlphaFold Q3V1L6
Predicted Effect probably benign
Transcript: ENSMUST00000054356
SMART Domains Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934

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: ENSMUST00000180958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199721
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T A 14: 44,406,690 (GRCm39) M120L probably benign Het
Aco2 A G 15: 81,773,584 (GRCm39) probably null Het
Acss1 A G 2: 150,501,823 (GRCm39) S115P possibly damaging Het
Ank2 A T 3: 127,019,411 (GRCm39) probably null Het
AU041133 C T 10: 81,987,316 (GRCm39) T323M probably damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Bod1l G A 5: 41,977,870 (GRCm39) T1148I probably benign Het
Celsr1 C T 15: 85,847,334 (GRCm39) V1468I probably benign Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cep89 A G 7: 35,115,822 (GRCm39) probably benign Het
Cfap58 A G 19: 47,941,480 (GRCm39) K283E possibly damaging Het
Cog5 C T 12: 31,710,853 (GRCm39) Q78* probably null Het
Col20a1 C T 2: 180,643,043 (GRCm39) R796C possibly damaging Het
Dnah7b A T 1: 46,165,840 (GRCm39) T502S probably benign Het
Dnm1l A G 16: 16,160,559 (GRCm39) probably null Het
Dse A T 10: 34,028,632 (GRCm39) F819L probably benign Het
Eloa G T 4: 135,738,553 (GRCm39) L136I possibly damaging Het
Eloa T A 4: 135,738,576 (GRCm39) H128L probably benign Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Golim4 T G 3: 75,802,347 (GRCm39) N287T probably benign Het
Gpx8 T A 13: 113,179,682 (GRCm39) K206N possibly damaging Het
Iqgap3 G T 3: 88,004,293 (GRCm39) V460F probably benign Het
Kcne4 A T 1: 78,795,651 (GRCm39) M100L probably benign Het
Kmt2a A T 9: 44,721,077 (GRCm39) probably benign Het
Ktn1 G A 14: 47,962,387 (GRCm39) W1117* probably null Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lmln T G 16: 32,930,220 (GRCm39) I559S probably benign Het
Mapk4 A T 18: 74,063,609 (GRCm39) F538I possibly damaging Het
Mlxipl A G 5: 135,166,253 (GRCm39) probably benign Het
Mmrn1 T C 6: 60,921,570 (GRCm39) L9P probably damaging Het
Mnat1 G A 12: 73,228,601 (GRCm39) R155H probably damaging Het
Naaladl1 T C 19: 6,165,581 (GRCm39) L745P probably damaging Het
Obsl1 A T 1: 75,467,546 (GRCm39) D1409E probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Pla2g4e A T 2: 120,013,194 (GRCm39) H375Q probably benign Het
Prodh2 G A 7: 30,205,877 (GRCm39) V238M probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rock1 A T 18: 10,080,514 (GRCm39) M1010K probably damaging Het
Ros1 A G 10: 52,038,800 (GRCm39) probably null Het
Sim1 A T 10: 50,857,708 (GRCm39) D486V probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Src A G 2: 157,306,573 (GRCm39) D192G probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tmem145 A G 7: 25,006,554 (GRCm39) Y54C probably damaging Het
Try4 C T 6: 41,281,905 (GRCm39) P164S possibly damaging Het
Vegfc A T 8: 54,634,130 (GRCm39) N270Y probably benign 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
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
R6084:Mtmr11 UTSW 3 96,075,400 (GRCm39) missense probably damaging 0.99
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'- AACCAGACTTCTTATCCCATCTG -3'
(R):5'- CTGGAAGGGCGTGTGATGA -3'

Sequencing Primer
(F):5'- CATAGTCAGCTGCTGTGGACAATC -3'
(R):5'- TGATGAAGAAGGGAGTAATGTATTGG -3'
Posted On 2015-07-07