Incidental Mutation 'R0787:Mtmr10'
ID 76903
Institutional Source Beutler Lab
Gene Symbol Mtmr10
Ensembl Gene ENSMUSG00000030522
Gene Name myotubularin related protein 10
Synonyms
MMRRC Submission 038967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R0787 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 64287653-64340806 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64300615 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 136 (I136T)
Ref Sequence ENSEMBL: ENSMUSP00000032736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032736] [ENSMUST00000206452]
AlphaFold Q7TPM9
Predicted Effect possibly damaging
Transcript: ENSMUST00000032736
AA Change: I136T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: I136T

DomainStartEndE-ValueType
Pfam:Myotub-related 176 330 8.6e-12 PFAM
Pfam:Myotub-related 319 508 2.7e-56 PFAM
Pfam:3-PAP 570 701 2.2e-57 PFAM
low complexity region 730 737 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000206452
AA Change: I136T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000206680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206732
Meta Mutation Damage Score 0.2509 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik T A 4: 107,890,129 (GRCm38) L6Q probably damaging Het
1700001F09Rik A T 14: 43,345,493 (GRCm38) probably null Het
Abca8a T A 11: 110,042,988 (GRCm38) Y1197F possibly damaging Het
Abcc2 T C 19: 43,798,516 (GRCm38) probably null Het
Adamts16 A T 13: 70,738,829 (GRCm38) C979S probably damaging Het
Agap2 T A 10: 127,085,150 (GRCm38) D523E unknown Het
Ankfy1 T A 11: 72,760,296 (GRCm38) I1024N probably damaging Het
Ankrd13c A G 3: 157,994,678 (GRCm38) S379G probably null Het
Arhgap40 T C 2: 158,547,790 (GRCm38) S625P probably benign Het
Armc12 G C 17: 28,538,766 (GRCm38) A291P probably damaging Het
Armc9 A G 1: 86,202,505 (GRCm38) N524D probably damaging Het
Col12a1 G T 9: 79,638,485 (GRCm38) T2305K probably damaging Het
Cyp2c54 T C 19: 40,047,635 (GRCm38) N277S probably benign Het
E130311K13Rik A T 3: 63,920,298 (GRCm38) V129E probably benign Het
Ehbp1l1 T C 19: 5,722,668 (GRCm38) D79G possibly damaging Het
Epb41l1 A G 2: 156,494,090 (GRCm38) E58G probably damaging Het
Fam217b T A 2: 178,420,909 (GRCm38) V222E probably benign Het
Fat1 T A 8: 45,040,555 (GRCm38) Y3913N probably damaging Het
Fgd4 A G 16: 16,423,901 (GRCm38) probably benign Het
Hltf A T 3: 20,106,446 (GRCm38) D759V probably damaging Het
Hsp90ab1 ACTTCTT ACTT 17: 45,569,499 (GRCm38) probably benign Het
Isg15 C T 4: 156,199,939 (GRCm38) R44H probably benign Het
Itga4 C T 2: 79,279,153 (GRCm38) T232I probably benign Het
Kntc1 C A 5: 123,796,104 (GRCm38) H1399Q probably benign Het
Lig1 A C 7: 13,299,069 (GRCm38) K499Q probably benign Het
Lrrn3 C A 12: 41,454,231 (GRCm38) C29F probably damaging Het
Naip1 A G 13: 100,426,096 (GRCm38) Y854H probably benign Het
Olfr770 T C 10: 129,133,526 (GRCm38) N81D possibly damaging Het
Pcdh9 G A 14: 93,886,757 (GRCm38) A659V possibly damaging Het
Phf20l1 T A 15: 66,615,630 (GRCm38) probably benign Het
Phgdh A G 3: 98,334,549 (GRCm38) V83A probably damaging Het
Pik3r1 A T 13: 101,690,523 (GRCm38) M326K probably benign Het
Pirb A T 7: 3,717,638 (GRCm38) L287Q probably benign Het
Pkd1l2 T C 8: 117,076,177 (GRCm38) D235G possibly damaging Het
Pkhd1l1 C A 15: 44,529,264 (GRCm38) P1665Q probably damaging Het
Ppp1r7 A G 1: 93,364,956 (GRCm38) T326A probably damaging Het
Prr22 A T 17: 56,771,072 (GRCm38) Y75F possibly damaging Het
Ptov1 A C 7: 44,865,470 (GRCm38) probably null Het
Rasal2 A G 1: 157,158,696 (GRCm38) S766P probably damaging Het
Shmt1 T C 11: 60,792,976 (GRCm38) T337A probably benign Het
St5 G T 7: 109,525,620 (GRCm38) R1068S possibly damaging Het
Tbc1d4 A T 14: 101,449,209 (GRCm38) I1168N probably damaging Het
Tecpr2 T C 12: 110,946,343 (GRCm38) V1126A probably benign Het
Tep1 A T 14: 50,829,230 (GRCm38) S2304T possibly damaging Het
Tiam1 C A 16: 89,789,561 (GRCm38) R1446M probably damaging Het
Tmem87a T C 2: 120,370,484 (GRCm38) I425V probably benign Het
Ubr3 T C 2: 69,951,421 (GRCm38) probably benign Het
Ubxn7 T A 16: 32,381,763 (GRCm38) probably benign Het
Vmn2r13 A G 5: 109,156,847 (GRCm38) S573P probably damaging Het
Wdfy3 A T 5: 101,957,388 (GRCm38) V191E probably damaging Het
Zdhhc3 A T 9: 123,083,623 (GRCm38) C153* probably null Het
Zfp407 A T 18: 84,209,022 (GRCm38) V2154D probably damaging Het
Zfp407 A G 18: 84,209,346 (GRCm38) V2046A probably benign Het
Zfr T A 15: 12,140,548 (GRCm38) I227N unknown Het
Other mutations in Mtmr10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Mtmr10 APN 7 64,337,712 (GRCm38) missense probably benign
IGL02082:Mtmr10 APN 7 64,333,490 (GRCm38) splice site probably benign
IGL02234:Mtmr10 APN 7 64,299,602 (GRCm38) missense probably benign 0.04
IGL02448:Mtmr10 APN 7 64,308,150 (GRCm38) missense probably damaging 1.00
IGL02515:Mtmr10 APN 7 64,337,511 (GRCm38) missense probably damaging 1.00
Curlyq UTSW 7 64,333,439 (GRCm38) missense probably damaging 1.00
K7371:Mtmr10 UTSW 7 64,314,210 (GRCm38) missense probably benign 0.18
PIT4472001:Mtmr10 UTSW 7 64,333,358 (GRCm38) missense probably benign 0.23
R0302:Mtmr10 UTSW 7 64,297,497 (GRCm38) missense probably damaging 1.00
R0619:Mtmr10 UTSW 7 64,321,213 (GRCm38) missense probably benign 0.00
R0972:Mtmr10 UTSW 7 64,326,709 (GRCm38) missense probably damaging 1.00
R1482:Mtmr10 UTSW 7 64,314,249 (GRCm38) missense probably damaging 1.00
R1770:Mtmr10 UTSW 7 64,336,721 (GRCm38) missense possibly damaging 0.47
R1826:Mtmr10 UTSW 7 64,337,466 (GRCm38) missense probably benign 0.00
R2174:Mtmr10 UTSW 7 64,336,764 (GRCm38) missense possibly damaging 0.94
R2215:Mtmr10 UTSW 7 64,337,655 (GRCm38) missense probably benign 0.00
R2352:Mtmr10 UTSW 7 64,297,580 (GRCm38) missense possibly damaging 0.71
R2411:Mtmr10 UTSW 7 64,297,497 (GRCm38) missense probably damaging 1.00
R3702:Mtmr10 UTSW 7 64,337,899 (GRCm38) missense probably damaging 1.00
R3710:Mtmr10 UTSW 7 64,326,685 (GRCm38) missense possibly damaging 0.86
R3802:Mtmr10 UTSW 7 64,320,628 (GRCm38) missense probably benign 0.29
R4190:Mtmr10 UTSW 7 64,314,186 (GRCm38) missense probably benign 0.37
R4484:Mtmr10 UTSW 7 64,320,631 (GRCm38) missense possibly damaging 0.86
R4562:Mtmr10 UTSW 7 64,314,159 (GRCm38) missense possibly damaging 0.92
R5128:Mtmr10 UTSW 7 64,333,439 (GRCm38) missense probably damaging 1.00
R5203:Mtmr10 UTSW 7 64,318,161 (GRCm38) missense probably benign
R5444:Mtmr10 UTSW 7 64,288,401 (GRCm38) splice site probably null
R5627:Mtmr10 UTSW 7 64,336,752 (GRCm38) missense probably damaging 1.00
R5786:Mtmr10 UTSW 7 64,337,710 (GRCm38) missense probably damaging 1.00
R7078:Mtmr10 UTSW 7 64,320,627 (GRCm38) missense possibly damaging 0.65
R7236:Mtmr10 UTSW 7 64,314,184 (GRCm38) utr 3 prime probably benign
R7575:Mtmr10 UTSW 7 64,297,465 (GRCm38) missense probably damaging 0.99
R7863:Mtmr10 UTSW 7 64,319,457 (GRCm38) missense probably benign 0.03
R7939:Mtmr10 UTSW 7 64,314,151 (GRCm38) missense probably benign 0.19
R9370:Mtmr10 UTSW 7 64,319,501 (GRCm38) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- CCATGCTGAGAAGCAGTTAGAACTGTAA -3'
(R):5'- TGGCTAGTAGCGGTCATAAAGAAGGA -3'

Sequencing Primer
(F):5'- CAGTTAGAACTGTAAATGAGCACC -3'
(R):5'- gtgcttccagctacgcc -3'
Posted On 2013-10-16