Incidental Mutation 'IGL03106:Tmem33'
ID 418945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem33
Ensembl Gene ENSMUSG00000037720
Gene Name transmembrane protein 33
Synonyms 2700052H22Rik, 5430406L04Rik, 1110006G02Rik, 1600019D15Rik, 2410089A21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # IGL03106
Quality Score
Status
Chromosome 5
Chromosomal Location 67417908-67448804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67421139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 38 (S38P)
Ref Sequence ENSEMBL: ENSMUSP00000124390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037918] [ENSMUST00000160352] [ENSMUST00000161233] [ENSMUST00000161369] [ENSMUST00000162074] [ENSMUST00000162543] [ENSMUST00000201979]
AlphaFold Q9CR67
Predicted Effect probably damaging
Transcript: ENSMUST00000037918
AA Change: S38P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042852
Gene: ENSMUSG00000037720
AA Change: S38P

DomainStartEndE-ValueType
Pfam:UPF0121 1 247 9.8e-126 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160352
AA Change: S38P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124766
Gene: ENSMUSG00000037720
AA Change: S38P

DomainStartEndE-ValueType
Pfam:UPF0121 1 246 2.8e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161233
Predicted Effect probably damaging
Transcript: ENSMUST00000161369
AA Change: S38P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124390
Gene: ENSMUSG00000037720
AA Change: S38P

DomainStartEndE-ValueType
Pfam:UPF0121 7 245 1.8e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162074
Predicted Effect probably damaging
Transcript: ENSMUST00000162543
AA Change: S38P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124765
Gene: ENSMUSG00000037720
AA Change: S38P

DomainStartEndE-ValueType
Pfam:UPF0121 1 119 2.1e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163028
Predicted Effect possibly damaging
Transcript: ENSMUST00000201979
AA Change: S38P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144531
Gene: ENSMUSG00000037720
AA Change: S38P

DomainStartEndE-ValueType
Pfam:UPF0121 7 61 5.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202324
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 G T 8: 25,205,135 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,621,018 (GRCm39) N3911S probably benign Het
Alox12b C T 11: 69,059,702 (GRCm39) Q585* probably null Het
Amtn A G 5: 88,525,944 (GRCm39) Q36R probably benign Het
Arg2 G A 12: 79,196,665 (GRCm39) G129S probably damaging Het
Arhgef28 A C 13: 98,094,301 (GRCm39) Y948D probably damaging Het
Atp10b T C 11: 43,138,304 (GRCm39) V1195A probably benign Het
Bet1l G T 7: 140,434,523 (GRCm39) T42K probably benign Het
Cabin1 G A 10: 75,569,462 (GRCm39) T875I probably benign Het
Ccdc17 A G 4: 116,454,033 (GRCm39) probably null Het
Crebrf A G 17: 26,990,293 (GRCm39) E612G probably damaging Het
Cyp2c67 A T 19: 39,632,119 (GRCm39) M83K probably benign Het
Dgkz A G 2: 91,771,204 (GRCm39) S414P probably damaging Het
Dock10 G T 1: 80,546,551 (GRCm39) H411N probably damaging Het
Dpyd A T 3: 118,988,783 (GRCm39) T749S probably benign Het
Dsc1 C T 18: 20,219,701 (GRCm39) probably null Het
Echdc1 A T 10: 29,198,276 (GRCm39) M74L probably damaging Het
Edn1 C A 13: 42,458,499 (GRCm39) T104K possibly damaging Het
Fat2 T A 11: 55,202,727 (GRCm39) T116S probably benign Het
Fcrl5 A T 3: 87,343,190 (GRCm39) probably null Het
Fpgt C T 3: 154,792,759 (GRCm39) G423R probably damaging Het
Gprc5b A T 7: 118,583,416 (GRCm39) V151E probably damaging Het
Grm5 A G 7: 87,685,278 (GRCm39) Y465C probably damaging Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Ighmbp2 T C 19: 3,323,022 (GRCm39) K308R possibly damaging Het
Lrch1 A T 14: 75,073,202 (GRCm39) S146T possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mterf3 T C 13: 67,078,221 (GRCm39) K16R probably damaging Het
Ncapg T A 5: 45,853,010 (GRCm39) H825Q probably damaging Het
Or2t1 G A 14: 14,328,851 (GRCm38) V247I probably damaging Het
Or2y1f T A 11: 49,184,988 (GRCm39) I280N probably damaging Het
Or4d5 A G 9: 40,012,030 (GRCm39) V252A probably damaging Het
Or5b95 G A 19: 12,658,287 (GRCm39) V272M possibly damaging Het
Or5t15 A C 2: 86,681,958 (GRCm39) L28R possibly damaging Het
Or5w15 A T 2: 87,568,462 (GRCm39) S69T probably benign Het
Pald1 A T 10: 61,182,884 (GRCm39) M355K probably benign Het
Phc1 A G 6: 122,300,428 (GRCm39) probably benign Het
Phkb T A 8: 86,745,095 (GRCm39) probably benign Het
Pkn3 G T 2: 29,975,257 (GRCm39) R506L probably damaging Het
Plod2 T C 9: 92,455,620 (GRCm39) Y100H probably damaging Het
Prl7b1 G T 13: 27,790,918 (GRCm39) Q56K probably benign Het
Rhot1 T A 11: 80,133,407 (GRCm39) C229* probably null Het
Sema3a G A 5: 13,649,456 (GRCm39) R735Q probably damaging Het
Slc18b1 A G 10: 23,702,557 (GRCm39) *460W probably null Het
Slco6c1 T A 1: 96,993,748 (GRCm39) probably benign Het
Slu7 T A 11: 43,333,457 (GRCm39) V359D possibly damaging Het
Suco T C 1: 161,662,049 (GRCm39) Y794C possibly damaging Het
Sult3a2 T C 10: 33,655,769 (GRCm39) N70S probably benign Het
Taar2 A T 10: 23,817,195 (GRCm39) D245V probably damaging Het
Taf1d A G 9: 15,221,237 (GRCm39) H181R possibly damaging Het
Traf3ip1 T C 1: 91,450,609 (GRCm39) S519P probably benign Het
Ttc12 T C 9: 49,369,362 (GRCm39) K253E possibly damaging 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
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
R1692:Tmem33 UTSW 5 67,425,897 (GRCm39) missense probably null 0.57
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
Posted On 2016-08-02