Incidental Mutation 'R1103:Trim33'
| ID |
98244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim33
|
| Ensembl Gene |
ENSMUSG00000033014 |
| Gene Name |
tripartite motif-containing 33 |
| Synonyms |
8030451N04Rik, ectodermin, Ecto, Tif1g |
| MMRRC Submission |
039176-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1103 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103218201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 250
(W250L)
|
| 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: W250L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
AA Change: W250L
| 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: W250L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
AA Change: W250L
| 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 |
0.6967 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930524J08Rik |
G |
A |
5: 100,126,980 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
| Adpgk |
A |
G |
9: 59,221,079 (GRCm39) |
H295R |
probably damaging |
Het |
| Aftph |
A |
T |
11: 20,676,547 (GRCm39) |
M199K |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,553,593 (GRCm39) |
|
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,776 (GRCm39) |
I216V |
probably benign |
Het |
| Bag4 |
A |
T |
8: 26,257,891 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,050,672 (GRCm39) |
M3003L |
probably benign |
Het |
| Bud23 |
T |
C |
5: 135,089,993 (GRCm39) |
S67G |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,671,410 (GRCm39) |
F132S |
probably damaging |
Het |
| Cngb3 |
G |
A |
4: 19,309,658 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
A |
G |
1: 116,508,399 (GRCm39) |
I1304V |
possibly damaging |
Het |
| Cp |
A |
G |
3: 20,036,149 (GRCm39) |
K764E |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,901,925 (GRCm39) |
V2438A |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,811,402 (GRCm39) |
W1230R |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,494,111 (GRCm39) |
V475I |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,071 (GRCm39) |
S429P |
probably benign |
Het |
| Dtwd1 |
T |
C |
2: 125,996,643 (GRCm39) |
S43P |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,016,274 (GRCm39) |
T705A |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,022,710 (GRCm39) |
T43N |
probably benign |
Het |
| Fcgbpl1 |
G |
T |
7: 27,853,945 (GRCm39) |
L1636F |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gpr150 |
G |
T |
13: 76,203,712 (GRCm39) |
P411Q |
probably damaging |
Het |
| Grap |
C |
A |
11: 61,562,544 (GRCm39) |
Q172K |
probably benign |
Het |
| Ido2 |
G |
A |
8: 25,066,239 (GRCm39) |
T9M |
probably benign |
Het |
| Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
| Klra17 |
G |
A |
6: 129,845,806 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
| Lhpp |
A |
T |
7: 132,212,484 (GRCm39) |
D17V |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Lrrc7 |
C |
T |
3: 157,854,343 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
A |
T |
19: 5,797,439 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
C |
19: 5,797,440 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
T |
A |
4: 136,268,041 (GRCm39) |
L88Q |
possibly damaging |
Het |
| Magi2 |
T |
C |
5: 20,816,101 (GRCm39) |
I747T |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,563,974 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,455,950 (GRCm39) |
|
probably null |
Het |
| Map3k5 |
C |
A |
10: 19,899,422 (GRCm39) |
D226E |
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,732,261 (GRCm39) |
S440T |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,714,156 (GRCm39) |
L389Q |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,160,827 (GRCm39) |
D900G |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,534,795 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,912,309 (GRCm39) |
S7044R |
probably damaging |
Het |
| Or5bw2 |
T |
A |
7: 6,573,111 (GRCm39) |
N40K |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,090 (GRCm39) |
V9A |
possibly damaging |
Het |
| Or6k4 |
T |
C |
1: 173,964,457 (GRCm39) |
V49A |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
| Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
| Pramel22 |
A |
C |
4: 143,381,942 (GRCm39) |
C251W |
probably damaging |
Het |
| Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
| Sesn1 |
G |
T |
10: 41,778,589 (GRCm39) |
R346L |
possibly damaging |
Het |
| Setd4 |
G |
T |
16: 93,382,082 (GRCm39) |
H390Q |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,116,299 (GRCm39) |
E688G |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 76,156,609 (GRCm39) |
D6802N |
probably benign |
Het |
| Syt16 |
A |
G |
12: 74,313,672 (GRCm39) |
K533E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,591,504 (GRCm39) |
Q26H |
probably benign |
Het |
| Trip4 |
A |
G |
9: 65,788,188 (GRCm39) |
C86R |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,030,986 (GRCm39) |
C809S |
unknown |
Het |
| Vrk2 |
A |
G |
11: 26,499,325 (GRCm39) |
F76L |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,087,844 (GRCm39) |
T558A |
probably 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 |
|
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 |
|
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'- CTCTTCCACACCCTAAGACTTGGTAGA -3'
(R):5'- GCTGACCAGATGTTCCAACAGACTC -3'
Sequencing Primer
(F):5'- CCTATCTAAATGTTATTGCTA -3'
(R):5'- CCTGATCAGGTGGTCTTTAGTGA -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation