Incidental Mutation 'R4058:Mitd1'
Institutional Source Beutler Lab
Gene Symbol Mitd1
Ensembl Gene ENSMUSG00000026088
Gene NameMIT, microtubule interacting and transport, domain containing 1
MMRRC Submission 040969-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.311) question?
Stock #R4058 (G1)
Quality Score225
Status Validated
Chromosomal Location37874801-37890411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 37881026 bp
Amino Acid Change Serine to Asparagine at position 167 (S167N)
Ref Sequence ENSEMBL: ENSMUSP00000123009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027257] [ENSMUST00000041621] [ENSMUST00000139725]
Predicted Effect probably benign
Transcript: ENSMUST00000027257
AA Change: S167N

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027257
Gene: ENSMUSG00000026088
AA Change: S167N

MIT 8 86 4.27e-17 SMART
Pfam:MIT_C 100 242 4.3e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041621
SMART Domains Protein: ENSMUSP00000038739
Gene: ENSMUSG00000037216

PDB:3A7U|A 31 373 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138806
Predicted Effect probably benign
Transcript: ENSMUST00000139725
AA Change: S167N

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123009
Gene: ENSMUSG00000026088
AA Change: S167N

MIT 8 86 4.27e-17 SMART
Meta Mutation Damage Score 0.0636 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 88% (38/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,766,458 V301A probably benign Het
Adam15 A G 3: 89,347,055 V145A possibly damaging Het
Anxa4 C T 6: 86,757,818 probably null Het
Aqp9 C A 9: 71,130,444 V184L probably benign Het
Atp13a3 C A 16: 30,354,246 C271F possibly damaging Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
C130060K24Rik T A 6: 65,381,541 I83N probably damaging Het
Cldn34c4 C A X: 127,721,437 V137F probably benign Het
Cngb1 T C 8: 95,267,654 E163G probably benign Het
Dync1i1 A G 6: 5,769,764 D113G probably damaging Het
Etl4 T A 2: 20,806,019 V971D possibly damaging Het
Gys1 A G 7: 45,448,386 probably benign Het
H13 C G 2: 152,691,874 P227R probably damaging Het
Ift22 C A 5: 136,911,863 P84Q unknown Het
Igfn1 A G 1: 135,969,756 V1024A probably benign Het
Kdm8 T A 7: 125,456,494 Y65N probably damaging Het
Lbp T A 2: 158,324,630 V368E probably damaging Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Megf6 T C 4: 154,242,532 probably benign Het
Mettl13 G T 1: 162,546,186 H165Q probably damaging Het
Mon2 A G 10: 123,002,819 V1593A probably benign Het
Nkx3-2 T A 5: 41,762,063 E194V possibly damaging Het
Nup210 A T 6: 91,060,620 V757D probably benign Het
Olfr1031 T A 2: 85,992,232 S138R possibly damaging Het
Olfr1328 T C 4: 118,934,683 D53G probably damaging Het
Opcml A G 9: 28,901,588 Y192C probably damaging Het
Pcdha2 A G 18: 36,939,882 S189G probably benign Het
Pkd2l2 T C 18: 34,428,192 F418L probably benign Het
Plekhg1 A G 10: 3,957,087 D668G probably damaging Het
Prep G A 10: 45,158,371 V660M probably benign Het
Rgs8 A G 1: 153,690,996 T98A probably null Het
Rhbdd1 A G 1: 82,370,381 N235D possibly damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Sgo2b A T 8: 63,926,947 D950E probably damaging Het
Slc1a5 T C 7: 16,795,853 V399A probably damaging Het
Spag16 A T 1: 69,853,328 Q89H probably damaging Het
Spta1 T C 1: 174,241,137 W2168R probably damaging Het
Taok1 T A 11: 77,549,438 K581M probably benign Het
Tns3 T C 11: 8,492,275 D696G probably damaging Het
Tspan8 C T 10: 115,835,282 R115* probably null Het
Txnrd1 A G 10: 82,885,280 E510G probably benign Het
Usp45 T C 4: 21,810,746 I314T probably damaging Het
Vmn2r15 T A 5: 109,293,446 H182L probably damaging Het
Vmn2r76 A C 7: 86,230,300 M264R probably benign Het
Other mutations in Mitd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02155:Mitd1 APN 1 37885275 missense probably benign 0.44
R5012:Mitd1 UTSW 1 37885293 missense probably benign 0.00
R6976:Mitd1 UTSW 1 37882697 missense probably benign 0.00
R7443:Mitd1 UTSW 1 37881036 missense probably benign
R7570:Mitd1 UTSW 1 37890192 missense probably damaging 1.00
R7655:Mitd1 UTSW 1 37885275 missense probably benign 0.44
R7656:Mitd1 UTSW 1 37885275 missense probably benign 0.44
R7945:Mitd1 UTSW 1 37885265 missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-04-30