Incidental Mutation 'R9433:Trim33'
| ID |
713084 |
| 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 # |
R9433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103186609-103266086 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 103228979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029444]
[ENSMUST00000106860]
[ENSMUST00000198706]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029444
|
| SMART Domains |
Protein: ENSMUSP00000029444
Gene: ENSMUSG00000033014
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102473
Gene: ENSMUSG00000033014
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198706
|
| SMART Domains |
Protein: ENSMUSP00000142585
Gene: ENSMUSG00000033014
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,714,471 (GRCm39) |
F937L |
probably benign |
Het |
| Adipor2 |
A |
T |
6: 119,336,486 (GRCm39) |
F159Y |
probably damaging |
Het |
| Ahcyl1 |
A |
G |
3: 107,575,645 (GRCm39) |
V380A |
probably damaging |
Het |
| Akp3 |
A |
G |
1: 87,053,517 (GRCm39) |
K157E |
probably benign |
Het |
| Arpc1a |
T |
A |
5: 145,045,203 (GRCm39) |
I364N |
possibly damaging |
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| Brms1l |
G |
A |
12: 55,912,863 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
G |
2: 5,680,777 (GRCm39) |
S6P |
unknown |
Het |
| Ccdc112 |
C |
A |
18: 46,424,040 (GRCm39) |
V233L |
probably benign |
Het |
| Ccdc113 |
A |
T |
8: 96,272,613 (GRCm39) |
N240I |
possibly damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,095,668 (GRCm39) |
V1810E |
possibly damaging |
Het |
| Ccdc6 |
T |
C |
10: 70,004,951 (GRCm39) |
V232A |
possibly damaging |
Het |
| Cct5 |
A |
G |
15: 31,592,883 (GRCm39) |
I409T |
possibly damaging |
Het |
| Cd96 |
A |
G |
16: 45,856,298 (GRCm39) |
Y583H |
probably damaging |
Het |
| Cdh22 |
C |
T |
2: 164,954,329 (GRCm39) |
V731M |
probably benign |
Het |
| Clcn1 |
C |
T |
6: 42,282,494 (GRCm39) |
P521S |
probably damaging |
Het |
| Clec18a |
C |
T |
8: 111,808,322 (GRCm39) |
A27T |
probably benign |
Het |
| Cnnm2 |
C |
T |
19: 46,750,807 (GRCm39) |
A199V |
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,880,478 (GRCm39) |
A494T |
possibly damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,948,252 (GRCm39) |
E16G |
probably damaging |
Het |
| Cyp2j5 |
T |
A |
4: 96,552,244 (GRCm39) |
I2F |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,384,065 (GRCm39) |
N463Y |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,976,007 (GRCm39) |
D2804G |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,792,995 (GRCm39) |
N488D |
probably benign |
Het |
| Etv5 |
G |
A |
16: 22,254,668 (GRCm39) |
P64L |
probably damaging |
Het |
| Fbrs |
A |
G |
7: 127,084,272 (GRCm39) |
E468G |
probably benign |
Het |
| Fcho1 |
A |
T |
8: 72,169,468 (GRCm39) |
M146K |
probably benign |
Het |
| Gad1 |
A |
T |
2: 70,423,807 (GRCm39) |
M405L |
|
Het |
| Gcc2 |
T |
A |
10: 58,106,592 (GRCm39) |
H609Q |
probably benign |
Het |
| Gm11983 |
A |
T |
11: 6,786,902 (GRCm39) |
M75K |
unknown |
Het |
| Gm4353 |
T |
A |
7: 115,682,871 (GRCm39) |
I237F |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,731,222 (GRCm39) |
D143G |
unknown |
Het |
| Id1 |
T |
A |
2: 152,578,430 (GRCm39) |
V57D |
probably damaging |
Het |
| Ifna13 |
T |
C |
4: 88,562,540 (GRCm39) |
Q28R |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Lonrf2 |
G |
A |
1: 38,875,538 (GRCm39) |
|
probably benign |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,148,371 (GRCm39) |
E77G |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,483,937 (GRCm39) |
Q6945L |
probably benign |
Het |
| Nos2 |
G |
A |
11: 78,850,490 (GRCm39) |
R1116H |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,795,224 (GRCm39) |
C305Y |
probably benign |
Het |
| Parpbp |
A |
C |
10: 87,975,858 (GRCm39) |
V85G |
probably benign |
Het |
| Pcmtd2 |
C |
T |
2: 181,496,837 (GRCm39) |
H273Y |
possibly damaging |
Het |
| Pcp4l1 |
C |
T |
1: 171,001,998 (GRCm39) |
G54D |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,070 (GRCm39) |
H622R |
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,945,754 (GRCm39) |
D906E |
probably benign |
Het |
| Pnpla8 |
T |
C |
12: 44,330,305 (GRCm39) |
S286P |
probably damaging |
Het |
| Prss36 |
C |
T |
7: 127,533,339 (GRCm39) |
V631I |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 56,964,010 (GRCm39) |
N381I |
possibly damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,576,041 (GRCm39) |
I222N |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,092,173 (GRCm39) |
T1249A |
probably damaging |
Het |
| Ripply2 |
G |
T |
9: 86,901,715 (GRCm39) |
W80C |
probably damaging |
Het |
| Rnaseh2b |
C |
A |
14: 62,602,722 (GRCm39) |
P235Q |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,443,997 (GRCm39) |
F2014L |
probably damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,518,238 (GRCm39) |
N246S |
probably benign |
Het |
| Sh3pxd2a |
A |
T |
19: 47,255,539 (GRCm39) |
S1088T |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skint3 |
A |
G |
4: 112,137,432 (GRCm39) |
I367V |
probably benign |
Het |
| Slc20a2 |
G |
T |
8: 23,051,211 (GRCm39) |
E415* |
probably null |
Het |
| Slc5a1 |
T |
A |
5: 33,310,025 (GRCm39) |
S418T |
probably benign |
Het |
| Spats2 |
G |
T |
15: 99,076,446 (GRCm39) |
G175* |
probably null |
Het |
| Srebf1 |
A |
T |
11: 60,095,015 (GRCm39) |
F485L |
possibly damaging |
Het |
| St8sia4 |
A |
G |
1: 95,555,364 (GRCm39) |
V222A |
|
Het |
| Stab1 |
C |
T |
14: 30,865,531 (GRCm39) |
E1786K |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,112,657 (GRCm39) |
M58V |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,765,870 (GRCm39) |
T319A |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,385,532 (GRCm39) |
|
probably benign |
Het |
| Tle6 |
T |
A |
10: 81,426,880 (GRCm39) |
I579F |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,845,459 (GRCm39) |
D390E |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,611,678 (GRCm39) |
V1046A |
probably benign |
Het |
| Vit |
G |
A |
17: 78,932,413 (GRCm39) |
G507R |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,695,590 (GRCm39) |
I274T |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,804,917 (GRCm39) |
K65M |
possibly damaging |
Het |
| Vmn2r86 |
C |
T |
10: 130,282,567 (GRCm39) |
G683E |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,335,871 (GRCm39) |
|
probably null |
Het |
| Zdhhc14 |
A |
G |
17: 5,781,779 (GRCm39) |
D333G |
probably benign |
Het |
| Zup1 |
G |
A |
10: 33,795,355 (GRCm39) |
S568L |
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 |
|
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'- GTACTAGACAGGTGACCAGC -3'
(R):5'- AAACCCCAGTCATCCTTCTG -3'
Sequencing Primer
(F):5'- GACAGGTGACCAGCAGATTATTTC -3'
(R):5'- ACTCCAGAGGTAGGTACATCTCTTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation