Incidental Mutation 'R1692:Tmem33'
ID 191852
Institutional Source Beutler Lab
Gene Symbol Tmem33
Ensembl Gene ENSMUSG00000037720
Gene Name transmembrane protein 33
Synonyms 2700052H22Rik, 5430406L04Rik, 1110006G02Rik, 1600019D15Rik, 2410089A21Rik
MMRRC Submission 039725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R1692 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 67417908-67448804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67425897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 38 (D38G)
Ref Sequence ENSEMBL: ENSMUSP00000124623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037918] [ENSMUST00000160352] [ENSMUST00000161233] [ENSMUST00000161369] [ENSMUST00000162074] [ENSMUST00000162543] [ENSMUST00000201979]
AlphaFold Q9CR67
Predicted Effect probably benign
Transcript: ENSMUST00000037918
AA Change: D147G

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000042852
Gene: ENSMUSG00000037720
AA Change: D147G

DomainStartEndE-ValueType
Pfam:UPF0121 1 247 9.8e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160352
AA Change: D147G

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124766
Gene: ENSMUSG00000037720
AA Change: D147G

DomainStartEndE-ValueType
Pfam:UPF0121 1 246 2.8e-126 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161233
AA Change: D38G

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000161369
AA Change: D147G

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124390
Gene: ENSMUSG00000037720
AA Change: D147G

DomainStartEndE-ValueType
Pfam:UPF0121 7 245 1.8e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162074
Predicted Effect probably null
Transcript: ENSMUST00000162543
SMART Domains Protein: ENSMUSP00000124765
Gene: ENSMUSG00000037720

DomainStartEndE-ValueType
Pfam:UPF0121 1 119 2.1e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163028
Predicted Effect probably benign
Transcript: ENSMUST00000201979
SMART Domains Protein: ENSMUSP00000144531
Gene: ENSMUSG00000037720

DomainStartEndE-ValueType
Pfam:UPF0121 7 61 5.9e-7 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,489,673 (GRCm39) *582R probably null Het
Agfg2 A G 5: 137,662,633 (GRCm39) Y145H probably damaging Het
Aldh1a1 C T 19: 20,608,182 (GRCm39) P335S probably damaging Het
Amotl1 T C 9: 14,463,018 (GRCm39) R732G possibly damaging Het
Ankef1 A T 2: 136,392,346 (GRCm39) I512F probably benign Het
Atg9a A T 1: 75,166,999 (GRCm39) D17E probably benign Het
Atpsckmt T C 15: 31,602,297 (GRCm39) probably null Het
Brd8 A T 18: 34,742,886 (GRCm39) S253R probably damaging Het
Ccnq T C 11: 78,642,157 (GRCm39) E111G probably benign Het
Cd79a T A 7: 24,600,881 (GRCm39) M192K probably damaging Het
Clcn1 T G 6: 42,290,032 (GRCm39) F822L possibly damaging Het
Dnajb12 A G 10: 59,732,199 (GRCm39) Y346C probably damaging Het
Erbb3 A G 10: 128,407,594 (GRCm39) I918T probably benign Het
Fbxw20 G T 9: 109,050,777 (GRCm39) T377K possibly damaging Het
Fry A G 5: 150,293,692 (GRCm39) I462V probably damaging Het
Gmip A G 8: 70,266,553 (GRCm39) N251S probably benign Het
Gpx1 A G 9: 108,216,674 (GRCm39) T55A possibly damaging Het
Hmcn2 T C 2: 31,340,856 (GRCm39) V4443A possibly damaging Het
Kdm4d A T 9: 14,375,807 (GRCm39) I17K probably benign Het
Lamc3 A G 2: 31,811,793 (GRCm39) S927G probably null Het
Map7d1 G A 4: 126,136,101 (GRCm39) P36S probably damaging Het
Mfsd13a C A 19: 46,360,515 (GRCm39) H356N probably benign Het
Mtap C T 4: 89,095,151 (GRCm39) R268C probably benign Het
Myo1a C T 10: 127,555,203 (GRCm39) probably null Het
Myom3 T C 4: 135,502,862 (GRCm39) L313P probably benign Het
Nrxn2 T A 19: 6,569,298 (GRCm39) V1391E probably damaging Het
Otoa A C 7: 120,690,774 (GRCm39) Q3P probably damaging Het
Phldb1 T C 9: 44,626,717 (GRCm39) E576G probably damaging Het
Pigw A C 11: 84,767,892 (GRCm39) L479R probably damaging Het
Pip5k1a A G 3: 94,971,041 (GRCm39) I507T probably benign Het
Ppp4r3b T A 11: 29,138,123 (GRCm39) I157N probably benign Het
Rrm2b G A 15: 37,927,566 (GRCm39) R115* probably null Het
Sall1 C T 8: 89,755,028 (GRCm39) S1317N probably benign Het
Serpinb6b T G 13: 33,158,978 (GRCm39) F179V probably damaging Het
Slc4a8 T A 15: 100,698,454 (GRCm39) F648I probably damaging Het
Slc5a7 T C 17: 54,588,754 (GRCm39) T298A probably damaging Het
Slit3 T C 11: 35,550,171 (GRCm39) L830P probably damaging Het
Smarcc1 T A 9: 110,003,072 (GRCm39) N387K possibly damaging Het
Tanc2 C T 11: 105,748,326 (GRCm39) T486I probably benign Het
Tdp1 C T 12: 99,921,260 (GRCm39) P599S probably damaging Het
Uvrag C T 7: 98,653,870 (GRCm39) R247Q probably benign Het
Vars1 T C 17: 35,232,701 (GRCm39) V875A probably damaging Het
Vcl A G 14: 21,074,250 (GRCm39) E879G probably damaging Het
Vmn1r231 C T 17: 21,110,871 (GRCm39) V15I probably benign Het
Zfp609 T C 9: 65,702,593 (GRCm39) T20A probably damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp959 T A 17: 56,205,299 (GRCm39) H445Q probably damaging Het
Zmiz2 T A 11: 6,350,795 (GRCm39) V515E probably damaging Het
Zmym5 G A 14: 57,041,650 (GRCm39) T151M probably damaging Het
Zxdc C T 6: 90,355,933 (GRCm39) Q481* probably null Het
Other mutations in Tmem33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Tmem33 APN 5 67,441,538 (GRCm39) missense probably damaging 1.00
IGL02076:Tmem33 APN 5 67,443,446 (GRCm39) missense probably damaging 1.00
IGL03106:Tmem33 APN 5 67,421,139 (GRCm39) missense probably damaging 1.00
commonplace UTSW 5 67,421,802 (GRCm39) critical splice donor site probably null
R0573:Tmem33 UTSW 5 67,421,603 (GRCm39) intron probably benign
R0839:Tmem33 UTSW 5 67,421,651 (GRCm39) missense probably damaging 1.00
R1129:Tmem33 UTSW 5 67,421,803 (GRCm39) splice site probably null
R1438:Tmem33 UTSW 5 67,424,634 (GRCm39) splice site probably null
R4513:Tmem33 UTSW 5 67,443,468 (GRCm39) missense probably benign 0.02
R4763:Tmem33 UTSW 5 67,443,479 (GRCm39) missense probably benign 0.22
R6298:Tmem33 UTSW 5 67,425,894 (GRCm39) nonsense probably null
R6673:Tmem33 UTSW 5 67,443,468 (GRCm39) missense probably benign 0.02
R6813:Tmem33 UTSW 5 67,421,802 (GRCm39) critical splice donor site probably null
R7186:Tmem33 UTSW 5 67,421,130 (GRCm39) missense possibly damaging 0.68
R7378:Tmem33 UTSW 5 67,443,476 (GRCm39) missense probably benign
R8402:Tmem33 UTSW 5 67,424,718 (GRCm39) splice site probably benign
R9747:Tmem33 UTSW 5 67,425,922 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GCATTACCTGTCAAGGGTGCTACTG -3'
(R):5'- GCTGACACCTGCTGACTCACAAAG -3'

Sequencing Primer
(F):5'- agtgagacaacggcacag -3'
(R):5'- GCTGACTCACAAAGTATGATATCTG -3'
Posted On 2014-05-14