Incidental Mutation 'R1331:Trim33'
| ID |
156179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
039396-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1331 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103217670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 205
(I205K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029444
AA Change: I205K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: I205K
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000106860
AA Change: I205K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: I205K
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000197779
|
| Meta Mutation Damage Score |
0.1780 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 93.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
T |
11: 69,773,202 (GRCm39) |
|
probably null |
Het |
| Acat1 |
T |
C |
9: 53,496,183 (GRCm39) |
D318G |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,791,002 (GRCm39) |
F748L |
probably benign |
Het |
| Alkbh8 |
T |
A |
9: 3,347,916 (GRCm39) |
|
probably null |
Het |
| Arhgef26 |
A |
G |
3: 62,247,449 (GRCm39) |
T178A |
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,909,359 (GRCm39) |
V509A |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,869,634 (GRCm39) |
E731G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,374,998 (GRCm39) |
V2931A |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,325,853 (GRCm39) |
N207K |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,273,584 (GRCm39) |
W718R |
unknown |
Het |
| Dnah7a |
A |
G |
1: 53,507,828 (GRCm39) |
I3081T |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,615,698 (GRCm39) |
V2977A |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,364,796 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,422,104 (GRCm39) |
|
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,617,891 (GRCm39) |
V291A |
probably damaging |
Het |
| Glra1 |
A |
C |
11: 55,405,896 (GRCm39) |
S282A |
probably benign |
Het |
| Gm7589 |
C |
A |
9: 59,053,325 (GRCm39) |
|
noncoding transcript |
Het |
| H6pd |
T |
C |
4: 150,066,872 (GRCm39) |
N505D |
probably benign |
Het |
| Hdlbp |
T |
A |
1: 93,348,853 (GRCm39) |
N566Y |
probably damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,659,254 (GRCm39) |
K514N |
probably damaging |
Het |
| Impdh1 |
A |
T |
6: 29,206,477 (GRCm39) |
V120D |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,465,627 (GRCm39) |
T1360A |
probably benign |
Het |
| Loxhd1 |
C |
T |
18: 77,490,632 (GRCm39) |
P1411S |
possibly damaging |
Het |
| Lpl |
A |
G |
8: 69,349,281 (GRCm39) |
E269G |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,136,701 (GRCm39) |
E2268* |
probably null |
Het |
| Mark1 |
T |
C |
1: 184,660,245 (GRCm39) |
E137G |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
| Mogat2 |
T |
C |
7: 98,872,722 (GRCm39) |
Y154C |
possibly damaging |
Het |
| Myo18a |
C |
G |
11: 77,732,405 (GRCm39) |
I859M |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,756,215 (GRCm39) |
V39A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,584,668 (GRCm39) |
I123N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,977,754 (GRCm39) |
V1966A |
probably benign |
Het |
| Or7g33 |
T |
C |
9: 19,448,842 (GRCm39) |
N128S |
probably benign |
Het |
| Orc3 |
T |
G |
4: 34,599,748 (GRCm39) |
N77T |
probably benign |
Het |
| Penk |
A |
G |
4: 4,134,287 (GRCm39) |
M120T |
probably benign |
Het |
| Phf7 |
G |
A |
14: 30,962,362 (GRCm39) |
Q148* |
probably null |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,452,993 (GRCm39) |
R3973C |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,862,109 (GRCm39) |
T264M |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,203,437 (GRCm39) |
T2070S |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,272,453 (GRCm39) |
F169S |
probably damaging |
Het |
| Rapgef5 |
G |
T |
12: 117,685,084 (GRCm39) |
A278S |
probably benign |
Het |
| Ripor2 |
G |
T |
13: 24,861,824 (GRCm39) |
E203* |
probably null |
Het |
| Setx |
T |
C |
2: 29,069,698 (GRCm39) |
L2501P |
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
A |
11: 95,276,689 (GRCm39) |
V56D |
probably damaging |
Het |
| Slc45a4 |
C |
T |
15: 73,458,596 (GRCm39) |
D326N |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,053,086 (GRCm39) |
V89D |
probably benign |
Het |
| Tek |
T |
A |
4: 94,627,943 (GRCm39) |
|
probably benign |
Het |
| Tert |
T |
A |
13: 73,796,473 (GRCm39) |
F1068Y |
probably damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,067,562 (GRCm39) |
I257K |
probably benign |
Het |
|
| Other mutations in Trim33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R9784:Trim33
|
UTSW |
3 |
103,244,823 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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'- TCCAGGGAAATAACTCAAACTGCTTTGT -3'
(R):5'- AAACCAACTGCACTTGCATTATCTTCAC -3'
Sequencing Primer
(F):5'- AACTCAAACTGCTTTGTTCATGTC -3'
(R):5'- TCTTAGGGTGTGGAAGAGTAATC -3'
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| Posted On |
2014-02-11 |
Incidental Mutation