Incidental Mutation 'R3414:Trim69'
| ID |
266716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim69
|
| Ensembl Gene |
ENSMUSG00000033368 |
| Gene Name |
tripartite motif-containing 69 |
| Synonyms |
Rnf36, Trif, 4921519C19Rik |
| MMRRC Submission |
040632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R3414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121991189-122009503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122009125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 395
(V395A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028665]
[ENSMUST00000036089]
|
| AlphaFold |
Q80X56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028665
|
| SMART Domains |
Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
|
Pfam:PAT1
|
247 |
490 |
6.7e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036089
AA Change: V395A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368
AA Change: V395A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
42 |
82 |
8.48e-8 |
SMART |
|
low complexity region
|
95 |
111 |
N/A |
INTRINSIC |
|
PDB:4NQJ|C
|
144 |
322 |
2e-86 |
PDB |
|
PRY
|
323 |
375 |
9.37e-19 |
SMART |
|
SPRY
|
376 |
500 |
4.97e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143088
|
| Meta Mutation Damage Score |
0.3152 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,533,129 (GRCm39) |
T261K |
possibly damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
| Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
| Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Klk1b26 |
A |
G |
7: 43,666,297 (GRCm39) |
I247V |
probably benign |
Het |
| Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
| Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
| Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
| Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
probably damaging |
Het |
|
| Other mutations in Trim69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Trim69
|
APN |
2 |
121,998,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01321:Trim69
|
APN |
2 |
122,003,765 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01478:Trim69
|
APN |
2 |
122,008,924 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01907:Trim69
|
APN |
2 |
121,998,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01925:Trim69
|
APN |
2 |
121,998,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Trim69
|
APN |
2 |
122,009,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03121:Trim69
|
APN |
2 |
121,998,128 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03206:Trim69
|
APN |
2 |
122,003,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0019:Trim69
|
UTSW |
2 |
122,004,958 (GRCm39) |
splice site |
probably null |
|
|
R0019:Trim69
|
UTSW |
2 |
122,004,958 (GRCm39) |
splice site |
probably null |
|
|
R1956:Trim69
|
UTSW |
2 |
122,004,956 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1960:Trim69
|
UTSW |
2 |
121,998,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2212:Trim69
|
UTSW |
2 |
122,009,125 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3412:Trim69
|
UTSW |
2 |
122,009,125 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3900:Trim69
|
UTSW |
2 |
122,009,322 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4470:Trim69
|
UTSW |
2 |
122,009,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Trim69
|
UTSW |
2 |
122,009,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Trim69
|
UTSW |
2 |
122,004,727 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5237:Trim69
|
UTSW |
2 |
122,003,821 (GRCm39) |
missense |
probably benign |
|
|
R5931:Trim69
|
UTSW |
2 |
122,009,075 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6483:Trim69
|
UTSW |
2 |
121,998,081 (GRCm39) |
nonsense |
probably null |
|
|
R6872:Trim69
|
UTSW |
2 |
121,998,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7372:Trim69
|
UTSW |
2 |
122,009,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7451:Trim69
|
UTSW |
2 |
121,998,508 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7591:Trim69
|
UTSW |
2 |
121,998,454 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8353:Trim69
|
UTSW |
2 |
121,998,490 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8551:Trim69
|
UTSW |
2 |
122,003,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9025:Trim69
|
UTSW |
2 |
122,003,771 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9075:Trim69
|
UTSW |
2 |
122,009,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9413:Trim69
|
UTSW |
2 |
122,009,083 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Trim69
|
UTSW |
2 |
121,998,035 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCATCCCAATCTGGTG -3'
(R):5'- AAAGATGGGTCATGGTTGTAGC -3'
Sequencing Primer
(F):5'- CTGGTGTTATCCAAAAGCCAG -3'
(R):5'- GTTGTAGCGTTGTAGAAGGATAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation