Incidental Mutation 'R9784:Trim33'
ID 734194
Institutional Source Beutler Lab
Gene Symbol Trim33
Ensembl Gene ENSMUSG00000033014
Gene Name tripartite motif-containing 33
Synonyms 8030451N04Rik, ectodermin, Ecto, Tif1g
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9784 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 103186609-103266086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103244823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 737 (S737P)
Ref Sequence ENSEMBL: ENSMUSP00000029444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029444] [ENSMUST00000106860] [ENSMUST00000198706]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029444
AA Change: S737P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: S737P

DomainStartEndE-ValueType
low complexity region 6 31 N/A INTRINSIC
low complexity region 33 134 N/A INTRINSIC
PHD 138 199 9.85e0 SMART
RING 139 198 2.12e-8 SMART
BBOX 226 273 1.24e-9 SMART
RING 231 293 2.01e0 SMART
BBOX 285 326 1.54e-10 SMART
BBC 333 459 7.55e-45 SMART
low complexity region 540 583 N/A INTRINSIC
low complexity region 731 773 N/A INTRINSIC
low complexity region 820 837 N/A INTRINSIC
PHD 902 945 4.15e-11 SMART
BROMO 972 1095 3.74e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106860
AA Change: S737P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: S737P

DomainStartEndE-ValueType
low complexity region 6 31 N/A INTRINSIC
low complexity region 33 134 N/A INTRINSIC
PHD 138 199 9.85e0 SMART
RING 139 198 2.12e-8 SMART
BBOX 226 273 1.24e-9 SMART
RING 231 293 2.01e0 SMART
BBOX 285 326 1.54e-10 SMART
BBC 333 459 7.55e-45 SMART
low complexity region 540 583 N/A INTRINSIC
low complexity region 731 773 N/A INTRINSIC
low complexity region 820 837 N/A INTRINSIC
PHD 902 945 4.15e-11 SMART
BROMO 972 1078 3.52e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197365
Predicted Effect probably damaging
Transcript: ENSMUST00000198706
AA Change: S308P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
AA Change: S308P

DomainStartEndE-ValueType
Blast:BBC 1 30 9e-11 BLAST
low complexity region 111 154 N/A INTRINSIC
low complexity region 302 344 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G A 5: 113,338,527 (GRCm39) P495L possibly damaging Het
Acly C T 11: 100,389,112 (GRCm39) A557T probably benign Het
Adgrl4 A T 3: 151,214,948 (GRCm39) T446S probably damaging Het
AK157302 A G 13: 21,679,768 (GRCm39) E98G probably damaging Het
Akap6 A T 12: 53,187,853 (GRCm39) T1756S probably damaging Het
Aldh1l1 A G 6: 90,541,424 (GRCm39) T273A probably benign Het
Aldh1l2 T A 10: 83,342,614 (GRCm39) probably null Het
Alox12 T C 11: 70,143,665 (GRCm39) E201G possibly damaging Het
Arhgef16 A G 4: 154,371,422 (GRCm39) V257A probably damaging Het
Asxl3 C T 18: 22,650,311 (GRCm39) L767F probably benign Het
Atxn7l2 T C 3: 108,110,565 (GRCm39) K692R probably null Het
Btbd2 T C 10: 80,484,481 (GRCm39) D145G probably damaging Het
Cacna1b A T 2: 24,651,801 (GRCm39) M126K possibly damaging Het
Cacna2d2 T A 9: 107,404,346 (GRCm39) C1081S probably benign Het
Cass4 T C 2: 172,269,753 (GRCm39) S612P probably benign Het
Cd209d A G 8: 3,926,337 (GRCm39) S123P probably damaging Het
Cep112 T C 11: 108,461,217 (GRCm39) S665P probably damaging Het
Cnp C T 11: 100,467,437 (GRCm39) R127W probably damaging Het
Col9a2 A T 4: 120,898,226 (GRCm39) D46V unknown Het
Cyp1a2 T A 9: 57,587,562 (GRCm39) N336I probably benign Het
Cyp2c37 A G 19: 39,988,943 (GRCm39) T301A possibly damaging Het
Dhtkd1 T A 2: 5,935,622 (GRCm39) E163D probably benign Het
Dido1 A T 2: 180,325,354 (GRCm39) F611L probably benign Het
Dnah9 T A 11: 65,975,960 (GRCm39) N1363I probably damaging Het
Drg2 A G 11: 60,358,548 (GRCm39) K331R probably benign Het
Fam171b T A 2: 83,690,787 (GRCm39) I250K probably damaging Het
Fem1al A T 11: 29,775,253 (GRCm39) V68E probably damaging Het
Fut8 T A 12: 77,459,613 (GRCm39) I242N probably damaging Het
Glyat T C 19: 12,628,844 (GRCm39) V247A probably benign Het
Gucy2e T C 11: 69,123,516 (GRCm39) N461S probably benign Het
Hif3a T A 7: 16,771,076 (GRCm39) H627L probably benign Het
Ighv8-5 T A 12: 115,031,228 (GRCm39) T104S probably benign Het
Ighv8-9 C T 12: 115,431,994 (GRCm39) V106M probably benign Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Katna1 G C 10: 7,638,590 (GRCm39) E440D probably null Het
Kmt2c T C 5: 25,549,959 (GRCm39) R1341G probably damaging Het
Krt14 C T 11: 100,097,966 (GRCm39) G106S unknown Het
Krt39 A G 11: 99,409,188 (GRCm39) C238R possibly damaging Het
Mak C T 13: 41,202,836 (GRCm39) S204N possibly damaging Het
Map3k5 A G 10: 19,810,812 (GRCm39) Y154C probably damaging Het
Mgam A G 6: 40,736,024 (GRCm39) Y841C probably damaging Het
Mgst1 A T 6: 138,124,799 (GRCm39) R38W probably damaging Het
Midn A G 10: 79,992,247 (GRCm39) E433G probably damaging Het
Muc2 T A 7: 141,280,785 (GRCm39) C380* probably null Het
Nans G T 4: 46,499,129 (GRCm39) K145N possibly damaging Het
Nbeal1 G A 1: 60,299,741 (GRCm39) W1359* probably null Het
Neo1 T A 9: 58,889,503 (GRCm39) E256V probably benign Het
Nkd1 C A 8: 89,318,330 (GRCm39) D322E probably damaging Het
Olfm4 T C 14: 80,249,348 (GRCm39) V155A probably damaging Het
Opa1 C A 16: 29,437,029 (GRCm39) S646* probably null Het
Or1p4-ps1 G T 11: 74,208,709 (GRCm39) C286F unknown Het
Or4f7 A G 2: 111,644,604 (GRCm39) S156P probably damaging Het
Or51ab3 T A 7: 103,201,266 (GRCm39) H91Q probably benign Het
Or52z1 T A 7: 103,436,732 (GRCm39) I251F probably benign Het
Or5b107 T A 19: 13,142,813 (GRCm39) L145Q probably damaging Het
Or5b12b G A 19: 12,861,874 (GRCm39) V210M probably benign Het
Or7g29 A T 9: 19,287,116 (GRCm39) D20E probably damaging Het
Pcdh15 A T 10: 74,467,212 (GRCm39) H1743L probably benign Het
Ppp1r13b T C 12: 111,810,119 (GRCm39) T230A probably benign Het
Ptf1a G T 2: 19,451,381 (GRCm39) R237L probably benign Het
Ripk4 G A 16: 97,549,306 (GRCm39) P250L possibly damaging Het
Ropn1l T C 15: 31,453,649 (GRCm39) H14R Het
Setdb1 T C 3: 95,233,173 (GRCm39) S1122G probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc22a18 T A 7: 143,046,678 (GRCm39) M274K probably benign Het
Spink5 T G 18: 44,119,490 (GRCm39) F267C probably damaging Het
Stau1 T C 2: 166,791,695 (GRCm39) M481V probably benign Het
Stk39 C T 2: 68,198,775 (GRCm39) G281E probably damaging Het
Stt3a A T 9: 36,670,079 (GRCm39) L119Q probably damaging Het
Stx18 C T 5: 38,196,635 (GRCm39) probably benign Het
Tgfbr3 G T 5: 107,297,799 (GRCm39) N200K probably benign Het
Timm8b A G 9: 50,516,273 (GRCm39) E42G probably benign Het
Togaram1 T A 12: 65,014,168 (GRCm39) L473* probably null Het
Trappc12 A G 12: 28,797,457 (GRCm39) I25T probably benign Het
Trmt1 A C 8: 85,424,330 (GRCm39) H455P probably damaging Het
Trpc1 C T 9: 95,599,646 (GRCm39) R471H possibly damaging Het
Ttll2 T A 17: 7,618,707 (GRCm39) T407S probably benign Het
Unc45b T A 11: 82,816,986 (GRCm39) N475K probably damaging Het
Usp48 T A 4: 137,321,812 (GRCm39) I40N probably benign Het
Wdr7 T G 18: 64,037,236 (GRCm39) V1220G probably damaging Het
Zfp830 C T 11: 82,655,805 (GRCm39) T203I possibly damaging Het
Zfp955a T A 17: 33,461,149 (GRCm39) I328F probably damaging Het
Other mutations in Trim33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Trim33 APN 3 103,237,498 (GRCm39) missense probably benign 0.44
IGL00981:Trim33 APN 3 103,259,311 (GRCm39) splice site probably benign
IGL01010:Trim33 APN 3 103,254,031 (GRCm39) nonsense probably null
IGL01025:Trim33 APN 3 103,261,234 (GRCm39) utr 3 prime probably benign
IGL01082:Trim33 APN 3 103,234,175 (GRCm39) missense possibly damaging 0.49
IGL02245:Trim33 APN 3 103,254,086 (GRCm39) critical splice donor site probably null
IGL02291:Trim33 APN 3 103,234,181 (GRCm39) missense probably damaging 1.00
IGL03248:Trim33 APN 3 103,218,289 (GRCm39) unclassified probably benign
IGL03400:Trim33 APN 3 103,236,459 (GRCm39) missense probably damaging 0.99
abilene UTSW 3 103,228,875 (GRCm39) missense probably damaging 0.99
Bemoaned UTSW 3 103,234,109 (GRCm39) missense possibly damaging 0.92
Excision UTSW 3 103,251,892 (GRCm39) missense probably damaging 1.00
Peaked UTSW 3 103,244,848 (GRCm39) critical splice donor site probably null
Pike UTSW 3 103,218,201 (GRCm39) missense probably damaging 0.98
westworld UTSW 3 103,234,217 (GRCm39) missense possibly damaging 0.46
R0143:Trim33 UTSW 3 103,259,417 (GRCm39) missense probably benign 0.00
R0471:Trim33 UTSW 3 103,234,217 (GRCm39) missense possibly damaging 0.46
R0513:Trim33 UTSW 3 103,217,700 (GRCm39) missense probably damaging 1.00
R0573:Trim33 UTSW 3 103,259,306 (GRCm39) splice site probably benign
R0586:Trim33 UTSW 3 103,217,660 (GRCm39) missense probably damaging 0.99
R1103:Trim33 UTSW 3 103,218,201 (GRCm39) missense probably damaging 0.98
R1157:Trim33 UTSW 3 103,261,146 (GRCm39) missense probably damaging 1.00
R1328:Trim33 UTSW 3 103,260,913 (GRCm39) missense possibly damaging 0.86
R1331:Trim33 UTSW 3 103,217,670 (GRCm39) missense probably damaging 0.99
R1385:Trim33 UTSW 3 103,218,266 (GRCm39) missense possibly damaging 0.46
R1397:Trim33 UTSW 3 103,217,750 (GRCm39) unclassified probably benign
R1785:Trim33 UTSW 3 103,236,536 (GRCm39) frame shift probably null
R1848:Trim33 UTSW 3 103,231,956 (GRCm39) unclassified probably benign
R1903:Trim33 UTSW 3 103,244,760 (GRCm39) missense probably damaging 1.00
R3404:Trim33 UTSW 3 103,228,875 (GRCm39) missense probably damaging 0.99
R3878:Trim33 UTSW 3 103,259,321 (GRCm39) missense probably damaging 1.00
R4156:Trim33 UTSW 3 103,217,630 (GRCm39) missense possibly damaging 0.94
R4281:Trim33 UTSW 3 103,236,402 (GRCm39) missense probably damaging 0.99
R4570:Trim33 UTSW 3 103,237,481 (GRCm39) missense probably damaging 0.96
R4809:Trim33 UTSW 3 103,236,572 (GRCm39) missense possibly damaging 0.91
R4904:Trim33 UTSW 3 103,238,963 (GRCm39) missense possibly damaging 0.46
R5168:Trim33 UTSW 3 103,248,997 (GRCm39) nonsense probably null
R5458:Trim33 UTSW 3 103,237,496 (GRCm39) missense possibly damaging 0.64
R5910:Trim33 UTSW 3 103,251,892 (GRCm39) missense probably damaging 1.00
R6195:Trim33 UTSW 3 103,244,848 (GRCm39) critical splice donor site probably null
R6331:Trim33 UTSW 3 103,248,925 (GRCm39) missense probably benign 0.00
R6636:Trim33 UTSW 3 103,261,035 (GRCm39) missense probably damaging 1.00
R6642:Trim33 UTSW 3 103,244,830 (GRCm39) missense probably damaging 0.99
R6783:Trim33 UTSW 3 103,259,403 (GRCm39) missense probably damaging 1.00
R6856:Trim33 UTSW 3 103,259,365 (GRCm39) missense probably damaging 0.97
R7220:Trim33 UTSW 3 103,234,109 (GRCm39) missense possibly damaging 0.92
R7325:Trim33 UTSW 3 103,228,952 (GRCm39) missense possibly damaging 0.93
R7374:Trim33 UTSW 3 103,217,639 (GRCm39) missense probably damaging 0.98
R7430:Trim33 UTSW 3 103,218,219 (GRCm39) missense possibly damaging 0.92
R7438:Trim33 UTSW 3 103,253,956 (GRCm39) splice site probably benign
R7491:Trim33 UTSW 3 103,233,464 (GRCm39) missense probably benign 0.28
R8001:Trim33 UTSW 3 103,218,831 (GRCm39) critical splice donor site probably null
R8127:Trim33 UTSW 3 103,239,043 (GRCm39) missense possibly damaging 0.66
R8326:Trim33 UTSW 3 103,218,770 (GRCm39) nonsense probably null
R8334:Trim33 UTSW 3 103,261,145 (GRCm39) missense probably benign 0.06
R8813:Trim33 UTSW 3 103,254,052 (GRCm39) missense probably benign 0.01
R8828:Trim33 UTSW 3 103,236,392 (GRCm39) missense probably damaging 0.97
R8894:Trim33 UTSW 3 103,218,807 (GRCm39) missense probably damaging 1.00
R9239:Trim33 UTSW 3 103,237,453 (GRCm39) missense probably benign 0.08
R9433:Trim33 UTSW 3 103,228,979 (GRCm39) critical splice donor site probably null
R9495:Trim33 UTSW 3 103,239,074 (GRCm39) missense probably benign 0.17
R9514:Trim33 UTSW 3 103,239,074 (GRCm39) missense probably benign 0.17
R9564:Trim33 UTSW 3 103,238,965 (GRCm39) missense probably benign 0.28
R9595:Trim33 UTSW 3 103,259,350 (GRCm39) missense probably damaging 1.00
R9722:Trim33 UTSW 3 103,261,146 (GRCm39) missense possibly damaging 0.55
RF005:Trim33 UTSW 3 103,187,528 (GRCm39) frame shift probably null
RF007:Trim33 UTSW 3 103,187,533 (GRCm39) small deletion probably benign
RF014:Trim33 UTSW 3 103,236,408 (GRCm39) missense possibly damaging 0.94
RF061:Trim33 UTSW 3 103,187,533 (GRCm39) small deletion probably benign
RF064:Trim33 UTSW 3 103,187,511 (GRCm39) frame shift probably null
Z1176:Trim33 UTSW 3 103,261,043 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTAAGGAAGTTACAGTTAGGTTGAAC -3'
(R):5'- AATGGCATGTATCTCTACACACC -3'

Sequencing Primer
(F):5'- GTGAGTACAGACAGTGACATTAATTC -3'
(R):5'- GGCATGTATCTCTACACACCGTCTC -3'
Posted On 2022-11-14