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)
|
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
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 |
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
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: 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
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |