Incidental Mutation 'R6303:Trim14'
ID |
509145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim14
|
Ensembl Gene |
ENSMUSG00000039853 |
Gene Name |
tripartite motif-containing 14 |
Synonyms |
5830400N10Rik |
MMRRC Submission |
044410-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6303 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46505072-46536148 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 46522118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 186
(M186I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099988
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046897]
[ENSMUST00000102924]
[ENSMUST00000184112]
|
AlphaFold |
Q8BVW3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046897
AA Change: M186I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000038719 Gene: ENSMUSG00000039853 AA Change: M186I
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 benign
Transcript: ENSMUST00000102924
AA Change: M186I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099988 Gene: ENSMUSG00000039853 AA Change: M186I
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 |
probably benign
Transcript: ENSMUST00000184112
|
SMART Domains |
Protein: ENSMUSP00000138876 Gene: ENSMUSG00000039853
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: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (43/44) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
Cobll1 |
A |
T |
2: 64,928,377 (GRCm39) |
M982K |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,814,898 (GRCm39) |
V1593A |
possibly damaging |
Het |
Ctsh |
A |
G |
9: 89,944,796 (GRCm39) |
S76G |
possibly damaging |
Het |
Dnajc10 |
T |
G |
2: 80,181,008 (GRCm39) |
D767E |
probably benign |
Het |
Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,977,317 (GRCm39) |
E1394G |
probably damaging |
Het |
Gm19410 |
T |
C |
8: 36,274,714 (GRCm39) |
C1512R |
possibly damaging |
Het |
Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
Hephl1 |
C |
A |
9: 15,001,448 (GRCm39) |
V226F |
possibly damaging |
Het |
Ilf3 |
G |
A |
9: 21,314,432 (GRCm39) |
|
probably benign |
Het |
Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
Nlrp2 |
A |
G |
7: 5,340,760 (GRCm39) |
L18P |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
Pappa |
G |
A |
4: 65,122,891 (GRCm39) |
G742D |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
Plscr5 |
A |
T |
9: 92,087,609 (GRCm39) |
I193F |
probably benign |
Het |
Polr1b |
G |
A |
2: 128,957,682 (GRCm39) |
R579H |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,637,739 (GRCm39) |
W202R |
probably damaging |
Het |
Ppp4r1 |
A |
G |
17: 66,131,724 (GRCm39) |
K489E |
probably benign |
Het |
Qser1 |
G |
A |
2: 104,593,175 (GRCm39) |
T1704I |
probably damaging |
Het |
Sik1 |
A |
G |
17: 32,065,270 (GRCm39) |
V776A |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
Spice1 |
A |
G |
16: 44,191,060 (GRCm39) |
M305V |
probably benign |
Het |
Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
Usp49 |
C |
A |
17: 47,991,747 (GRCm39) |
Q670K |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
Vmn1r224 |
T |
A |
17: 20,640,028 (GRCm39) |
S202T |
possibly damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
Zfp985 |
A |
G |
4: 147,668,232 (GRCm39) |
I367V |
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 |
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'- GCAAGGACTTGGAGTTGGTC -3'
(R):5'- TGATTGGGGCCCTAAGTATCCTG -3'
Sequencing Primer
(F):5'- ACTTGGAGTTGGTCTTAGGCAAC -3'
(R):5'- GCCCTAAGTATCCTGTGGGAG -3'
|
Posted On |
2018-04-02 |