Incidental Mutation 'R8370:Trim14'
| ID |
646334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim14
|
| Ensembl Gene |
ENSMUSG00000039853 |
| Gene Name |
tripartite motif-containing 14 |
| Synonyms |
5830400N10Rik |
| MMRRC Submission |
067809-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8370 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46505072-46536148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46523711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 109
(L109Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046897]
[ENSMUST00000102924]
[ENSMUST00000184112]
|
| AlphaFold |
Q8BVW3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046897
AA Change: L109Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038719
Gene: ENSMUSG00000039853
AA Change: L109Q
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
PRY
|
264 |
316 |
2.63e-13 |
SMART |
|
SPRY
|
317 |
440 |
2.48e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102924
AA Change: L109Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099988
Gene: ENSMUSG00000039853
AA Change: L109Q
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184112
AA Change: L109Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138876
Gene: ENSMUSG00000039853
AA Change: L109Q
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,696,881 (GRCm39) |
V92A |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,799,833 (GRCm39) |
N675I |
possibly damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,293 (GRCm39) |
H126R |
possibly damaging |
Het |
| Ccdc202 |
T |
C |
14: 96,119,930 (GRCm39) |
L229P |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,824 (GRCm39) |
F227S |
probably damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,968,758 (GRCm39) |
G41D |
probably damaging |
Het |
| Commd1 |
A |
T |
11: 22,932,104 (GRCm39) |
L51Q |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,553,192 (GRCm39) |
V1245D |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,383,302 (GRCm39) |
I925T |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,131,454 (GRCm39) |
I700K |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,319,284 (GRCm39) |
T983K |
probably damaging |
Het |
| Gm14325 |
T |
C |
2: 177,474,385 (GRCm39) |
I232M |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,732,679 (GRCm39) |
H683R |
probably benign |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kif9 |
C |
T |
9: 110,317,681 (GRCm39) |
R113C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,280 (GRCm39) |
E489G |
possibly damaging |
Het |
| Lhb |
A |
G |
7: 45,071,066 (GRCm39) |
D97G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,888,117 (GRCm39) |
D2381G |
|
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,682,642 (GRCm39) |
D427G |
probably damaging |
Het |
| Mrps18b |
T |
C |
17: 36,223,254 (GRCm39) |
I131V |
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,398,882 (GRCm39) |
K567* |
probably null |
Het |
| Ncam1 |
T |
A |
9: 49,468,431 (GRCm39) |
R343* |
probably null |
Het |
| Nfrkb |
T |
A |
9: 31,316,875 (GRCm39) |
N591K |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,854,974 (GRCm39) |
C117* |
probably null |
Het |
| Or5b123 |
T |
A |
19: 13,596,661 (GRCm39) |
I2N |
probably damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,681 (GRCm39) |
Y61N |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,275 (GRCm39) |
N509Y |
probably damaging |
Het |
| Prss58 |
C |
A |
6: 40,872,358 (GRCm39) |
G222C |
probably damaging |
Het |
| Ptx4 |
C |
A |
17: 25,342,314 (GRCm39) |
P263Q |
possibly damaging |
Het |
| Ribc2 |
T |
G |
15: 85,027,489 (GRCm39) |
H323Q |
probably benign |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,908 (GRCm39) |
T1028M |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,891,766 (GRCm39) |
D18G |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,093,022 (GRCm39) |
I806V |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,815,208 (GRCm39) |
H1602Q |
|
Het |
| Zbtb48 |
A |
G |
4: 152,105,744 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
T |
C |
1: 127,895,670 (GRCm39) |
E726G |
probably benign |
Het |
|
| Other mutations in Trim14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0034:Trim14
|
UTSW |
4 |
46,523,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0310:Trim14
|
UTSW |
4 |
46,522,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Trim14
|
UTSW |
4 |
46,522,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3436:Trim14
|
UTSW |
4 |
46,523,739 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3437:Trim14
|
UTSW |
4 |
46,523,739 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4085:Trim14
|
UTSW |
4 |
46,523,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4086:Trim14
|
UTSW |
4 |
46,523,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4087:Trim14
|
UTSW |
4 |
46,523,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4088:Trim14
|
UTSW |
4 |
46,523,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4992:Trim14
|
UTSW |
4 |
46,507,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Trim14
|
UTSW |
4 |
46,507,134 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5943:Trim14
|
UTSW |
4 |
46,522,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5979:Trim14
|
UTSW |
4 |
46,507,239 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6029:Trim14
|
UTSW |
4 |
46,506,998 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6303:Trim14
|
UTSW |
4 |
46,522,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6304:Trim14
|
UTSW |
4 |
46,522,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6312:Trim14
|
UTSW |
4 |
46,507,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7671:Trim14
|
UTSW |
4 |
46,507,238 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7996:Trim14
|
UTSW |
4 |
46,533,086 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9501:Trim14
|
UTSW |
4 |
46,510,404 (GRCm39) |
missense |
unknown |
|
|
Z1176:Trim14
|
UTSW |
4 |
46,510,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTGCAGTGTGAGTAGC -3'
(R):5'- TTTACGAGTGGCCTCTTGC -3'
Sequencing Primer
(F):5'- TACCTGCAGCAGCTGAACAGG -3'
(R):5'- GCTTTGAACAGCCACCTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation