Incidental Mutation 'R4058:Mitd1'
ID 314312
Institutional Source Beutler Lab
Gene Symbol Mitd1
Ensembl Gene ENSMUSG00000026088
Gene Name MIT, microtubule interacting and transport, domain containing 1
Synonyms 1500032H18Rik
MMRRC Submission 040969-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R4058 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 37913882-37929492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37920107 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8VDV8
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 64,586,821 (GRCm39) V301A probably benign Het
Adam15 A G 3: 89,254,362 (GRCm39) V145A possibly damaging Het
Anxa4 C T 6: 86,734,800 (GRCm39) probably null Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Atp13a3 C A 16: 30,173,064 (GRCm39) C271F possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cldn34c4 C A X: 126,629,060 (GRCm39) V137F probably benign Het
Cngb1 T C 8: 95,994,282 (GRCm39) E163G probably benign Het
Dync1i1 A G 6: 5,769,764 (GRCm39) D113G probably damaging Het
Etl4 T A 2: 20,810,830 (GRCm39) V971D possibly damaging Het
Gys1 A G 7: 45,097,810 (GRCm39) probably benign Het
H13 C G 2: 152,533,794 (GRCm39) P227R probably damaging Het
Ift22 C A 5: 136,940,717 (GRCm39) P84Q unknown Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Kdm8 T A 7: 125,055,666 (GRCm39) Y65N probably damaging Het
Lbp T A 2: 158,166,550 (GRCm39) V368E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Megf6 T C 4: 154,326,989 (GRCm39) probably benign Het
Mettl13 G T 1: 162,373,755 (GRCm39) H165Q probably damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Nkx3-2 T A 5: 41,919,406 (GRCm39) E194V possibly damaging Het
Nup210 A T 6: 91,037,602 (GRCm39) V757D probably benign Het
Opcml A G 9: 28,812,884 (GRCm39) Y192C probably damaging Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or5m8 T A 2: 85,822,576 (GRCm39) S138R possibly damaging Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Pkd2l2 T C 18: 34,561,245 (GRCm39) F418L probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Prep G A 10: 45,034,467 (GRCm39) V660M probably benign Het
Qrfprl T A 6: 65,358,525 (GRCm39) I83N probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhbdd1 A G 1: 82,348,102 (GRCm39) N235D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Sgo2b A T 8: 64,379,981 (GRCm39) D950E probably damaging Het
Slc1a5 T C 7: 16,529,778 (GRCm39) V399A probably damaging Het
Spag16 A T 1: 69,892,487 (GRCm39) Q89H probably damaging Het
Spta1 T C 1: 174,068,703 (GRCm39) W2168R probably damaging Het
Taok1 T A 11: 77,440,264 (GRCm39) K581M probably benign Het
Tns3 T C 11: 8,442,275 (GRCm39) D696G probably damaging Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Usp45 T C 4: 21,810,746 (GRCm39) I314T probably damaging Het
Vmn2r15 T A 5: 109,441,312 (GRCm39) H182L probably damaging Het
Vmn2r76 A C 7: 85,879,508 (GRCm39) M264R probably benign Het
Other mutations in Mitd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02155:Mitd1 APN 1 37,924,356 (GRCm39) missense probably benign 0.44
R5012:Mitd1 UTSW 1 37,924,374 (GRCm39) missense probably benign 0.00
R6976:Mitd1 UTSW 1 37,921,778 (GRCm39) missense probably benign 0.00
R7443:Mitd1 UTSW 1 37,920,117 (GRCm39) missense probably benign
R7570:Mitd1 UTSW 1 37,929,273 (GRCm39) missense probably damaging 1.00
R7655:Mitd1 UTSW 1 37,924,356 (GRCm39) missense probably benign 0.44
R7656:Mitd1 UTSW 1 37,924,356 (GRCm39) missense probably benign 0.44
R7945:Mitd1 UTSW 1 37,924,346 (GRCm39) missense probably damaging 0.97
R8523:Mitd1 UTSW 1 37,918,639 (GRCm39) critical splice donor site probably null
R8815:Mitd1 UTSW 1 37,929,315 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTCTGCACAGAACTCAGAACTC -3'
(R):5'- AACCAACAGTTGCTTCTTTGAG -3'

Sequencing Primer
(F):5'- TTCCCACATGACATAGGACCTG -3'
(R):5'- ACCAACAGTTGCTTCTTTGAGTTAGC -3'
Posted On 2015-04-30