Incidental Mutation 'R7220:Trim33'
| ID |
561716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
045292-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7220 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103234109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 449
(I449T)
|
| 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: I449T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: I449T
| 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 damaging
Transcript: ENSMUST00000106860
AA Change: I449T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: I449T
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198706
AA Change: I20T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
AA Change: I20T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBC
|
1 |
30 |
9e-11 |
BLAST |
|
low complexity region
|
111 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
344 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8340 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,837,337 (GRCm39) |
H325Q |
probably damaging |
Het |
| Aasdh |
T |
C |
5: 77,049,772 (GRCm39) |
I75V |
probably benign |
Het |
| Abca14 |
G |
A |
7: 119,826,667 (GRCm39) |
D438N |
possibly damaging |
Het |
| Abca8a |
T |
A |
11: 109,980,793 (GRCm39) |
I82F |
probably benign |
Het |
| Abca8b |
G |
T |
11: 109,872,543 (GRCm39) |
N19K |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,757,896 (GRCm39) |
N506S |
|
Het |
| Alox12e |
C |
A |
11: 70,206,731 (GRCm39) |
R652L |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,498 (GRCm39) |
V173A |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,506,433 (GRCm39) |
K326R |
probably null |
Het |
| Atm |
G |
T |
9: 53,423,217 (GRCm39) |
C636* |
probably null |
Het |
| Atp2c2 |
G |
A |
8: 120,472,300 (GRCm39) |
M451I |
probably benign |
Het |
| Best1 |
A |
T |
19: 9,969,479 (GRCm39) |
M193K |
probably benign |
Het |
| Bmper |
G |
T |
9: 23,310,651 (GRCm39) |
G362C |
probably damaging |
Het |
| Brd4 |
T |
A |
17: 32,444,557 (GRCm39) |
Y139F |
unknown |
Het |
| Bzw2 |
A |
T |
12: 36,173,950 (GRCm39) |
I108N |
possibly damaging |
Het |
| Cbs |
C |
A |
17: 31,838,191 (GRCm39) |
V353L |
probably benign |
Het |
| Ceacam20 |
A |
G |
7: 19,701,678 (GRCm39) |
T22A |
probably damaging |
Het |
| Ckap2l |
C |
T |
2: 129,117,436 (GRCm39) |
E580K |
probably damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,189,374 (GRCm39) |
L15P |
possibly damaging |
Het |
| Clec18a |
G |
T |
8: 111,808,204 (GRCm39) |
P66H |
probably benign |
Het |
| Cma1 |
G |
T |
14: 56,180,120 (GRCm39) |
T95K |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 48,320,994 (GRCm39) |
V272A |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 64,670,368 (GRCm39) |
E632D |
probably benign |
Het |
| Ctsc |
T |
C |
7: 87,946,361 (GRCm39) |
L130P |
probably damaging |
Het |
| Frmpd2 |
A |
T |
14: 33,229,432 (GRCm39) |
R339S |
probably damaging |
Het |
| Frrs1 |
C |
A |
3: 116,674,425 (GRCm39) |
S69* |
probably null |
Het |
| Gcc2 |
A |
T |
10: 58,116,416 (GRCm39) |
E1108D |
probably benign |
Het |
| Gkn1 |
A |
T |
6: 87,326,135 (GRCm39) |
|
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,534,498 (GRCm39) |
M252K |
probably benign |
Het |
| H2-Ob |
T |
C |
17: 34,460,234 (GRCm39) |
F115S |
probably damaging |
Het |
| Ighv1-53 |
T |
C |
12: 115,122,135 (GRCm39) |
N80S |
probably benign |
Het |
| Ighv1-67 |
T |
C |
12: 115,567,666 (GRCm39) |
K82R |
probably benign |
Het |
| Ints1 |
A |
T |
5: 139,747,828 (GRCm39) |
I1193N |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,549,923 (GRCm39) |
F1353L |
probably damaging |
Het |
| Luc7l |
C |
T |
17: 26,472,219 (GRCm39) |
|
probably benign |
Het |
| Man1a |
A |
C |
10: 53,796,331 (GRCm39) |
S454A |
possibly damaging |
Het |
| Mars2 |
C |
A |
1: 55,277,222 (GRCm39) |
A275D |
probably damaging |
Het |
| Nrde2 |
A |
G |
12: 100,097,178 (GRCm39) |
V874A |
probably benign |
Het |
| Ociad1 |
A |
G |
5: 73,470,809 (GRCm39) |
T244A |
probably benign |
Het |
| Or10j2 |
A |
G |
1: 173,097,811 (GRCm39) |
Y23C |
possibly damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,589 (GRCm39) |
D170E |
possibly damaging |
Het |
| Or8c9 |
A |
T |
9: 38,241,046 (GRCm39) |
L51F |
probably damaging |
Het |
| Ovca2 |
A |
G |
11: 75,069,501 (GRCm39) |
C41R |
possibly damaging |
Het |
| Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,178,441 (GRCm39) |
S566N |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,135,297 (GRCm39) |
I1038M |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,593,350 (GRCm39) |
T1588S |
possibly damaging |
Het |
| Ppig |
A |
G |
2: 69,580,320 (GRCm39) |
D618G |
unknown |
Het |
| Pramel17 |
A |
G |
4: 101,694,565 (GRCm39) |
F106S |
probably benign |
Het |
| Prorp |
G |
A |
12: 55,351,200 (GRCm39) |
V170M |
possibly damaging |
Het |
| Prss51 |
A |
T |
14: 64,333,444 (GRCm39) |
K18* |
probably null |
Het |
| Ptpra |
T |
A |
2: 130,386,417 (GRCm39) |
D622E |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,725,988 (GRCm39) |
F1431L |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,044,479 (GRCm39) |
I486V |
probably benign |
Het |
| Rnpc3 |
G |
A |
3: 113,422,004 (GRCm39) |
A77V |
probably benign |
Het |
| Rtl10 |
T |
A |
16: 18,320,026 (GRCm39) |
C85* |
probably null |
Het |
| Skint10 |
A |
G |
4: 112,586,170 (GRCm39) |
S149P |
probably benign |
Het |
| Slc17a8 |
A |
C |
10: 89,412,275 (GRCm39) |
V570G |
probably benign |
Het |
| Slc25a42 |
A |
T |
8: 70,642,148 (GRCm39) |
V98E |
probably damaging |
Het |
| Smco2 |
A |
G |
6: 146,760,363 (GRCm39) |
E73G |
probably benign |
Het |
| Ss18 |
T |
C |
18: 14,812,477 (GRCm39) |
Y38C |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,453,540 (GRCm39) |
C2909* |
probably null |
Het |
| Tbccd1 |
A |
G |
16: 22,652,747 (GRCm39) |
Y125H |
probably benign |
Het |
| Tdrd9 |
A |
G |
12: 111,980,888 (GRCm39) |
T446A |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,255,183 (GRCm39) |
Q1672K |
probably benign |
Het |
| Tek |
G |
C |
4: 94,692,541 (GRCm39) |
W216C |
probably damaging |
Het |
| Timm17a |
C |
T |
1: 135,241,313 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
A |
T |
4: 66,758,188 (GRCm39) |
H327L |
probably benign |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,559 (GRCm39) |
N28S |
probably null |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,177 (GRCm39) |
H410L |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,772 (GRCm39) |
E500G |
probably damaging |
Het |
| Wif1 |
A |
G |
10: 120,926,019 (GRCm39) |
N245S |
possibly damaging |
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 |
|
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 |
|
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'- AGTGCAGTTTATTATCAAGTGTGGC -3'
(R):5'- TGACTTAAAGAGAGTTTCCAATGCC -3'
Sequencing Primer
(F):5'- GGCAAAGATTGAAGTATGTGCTTCTC -3'
(R):5'- GAGAGTTTCCAATGCCTAACAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation