Incidental Mutation 'R3437:Trim14'
| ID |
267222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim14
|
| Ensembl Gene |
ENSMUSG00000039853 |
| Gene Name |
tripartite motif-containing 14 |
| Synonyms |
5830400N10Rik |
| MMRRC Submission |
040655-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46505072-46536148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46523739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 100
(V100I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046897]
[ENSMUST00000102924]
[ENSMUST00000184112]
|
| AlphaFold |
Q8BVW3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046897
AA Change: V100I
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038719
Gene: ENSMUSG00000039853
AA Change: V100I
| 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 |
possibly damaging
Transcript: ENSMUST00000102924
AA Change: V100I
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099988
Gene: ENSMUSG00000039853
AA Change: V100I
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142606
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184112
AA Change: V100I
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138876
Gene: ENSMUSG00000039853
AA Change: V100I
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (42/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,616,253 (GRCm39) |
L127R |
probably null |
Het |
| Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
| Amy1 |
G |
A |
3: 113,349,658 (GRCm39) |
A504V |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,713,612 (GRCm39) |
V290A |
probably benign |
Het |
| Bad |
A |
G |
19: 6,919,799 (GRCm39) |
R37G |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,723,223 (GRCm39) |
D98G |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,474,889 (GRCm39) |
T650M |
unknown |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,298 (GRCm39) |
R128G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,229,303 (GRCm39) |
S1974P |
probably damaging |
Het |
| Fabp1 |
T |
C |
6: 71,178,595 (GRCm39) |
L24P |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
| Gmnc |
G |
T |
16: 26,779,217 (GRCm39) |
H221Q |
probably benign |
Het |
| Homer1 |
T |
C |
13: 93,502,929 (GRCm39) |
|
probably benign |
Het |
| Kit |
A |
G |
5: 75,806,565 (GRCm39) |
D690G |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mc3r |
C |
T |
2: 172,091,588 (GRCm39) |
T270I |
probably benign |
Het |
| Mrgpra3 |
A |
C |
7: 47,239,314 (GRCm39) |
L204W |
probably damaging |
Het |
| Mroh1 |
C |
T |
15: 76,317,808 (GRCm39) |
T839I |
possibly damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
| Or5af1 |
A |
T |
11: 58,722,150 (GRCm39) |
M57L |
probably damaging |
Het |
| P4ha3 |
C |
T |
7: 99,934,831 (GRCm39) |
A31V |
possibly damaging |
Het |
| Plch2 |
A |
G |
4: 155,075,470 (GRCm39) |
|
probably null |
Het |
| Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Pter |
T |
A |
2: 13,005,805 (GRCm39) |
L326H |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
| Slc8a2 |
T |
G |
7: 15,892,810 (GRCm39) |
V824G |
probably damaging |
Het |
| Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
| Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,429,252 (GRCm39) |
|
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,151,507 (GRCm39) |
|
probably benign |
Het |
| Uty |
A |
G |
Y: 1,158,336 (GRCm39) |
I522T |
probably benign |
Het |
| Vmn1r120 |
A |
C |
7: 20,787,582 (GRCm39) |
L43W |
probably damaging |
Het |
| Vmn2r16 |
A |
T |
5: 109,478,362 (GRCm39) |
D39V |
probably damaging |
Het |
| Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,298,133 (GRCm39) |
V333A |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
| Zfy1 |
A |
T |
Y: 726,357 (GRCm39) |
D469E |
possibly damaging |
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 |
|
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 |
|
R8370:Trim14
|
UTSW |
4 |
46,523,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGTGACTCAGGTGCAGTGTGA -3'
(R):5'- CCATTTTGCCAGTGCTTAGAA -3'
Sequencing Primer
(F):5'- CCCTGGTAGAGAAGTCATCCATG -3'
(R):5'- GCCAGTGCTTAGAAAAACTTTCC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation