Incidental Mutation 'R3738:Trim9'
ID |
270251 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim9
|
Ensembl Gene |
ENSMUSG00000021071 |
Gene Name |
tripartite motif-containing 9 |
Synonyms |
C030048G07Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R3738 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70297969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 579
(T579A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000222316]
[ENSMUST00000223160]
|
AlphaFold |
Q8C7M3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110520
AA Change: T579A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106149 Gene: ENSMUSG00000021071 AA Change: T579A
Domain | Start | End | E-Value | Type |
RING
|
10 |
131 |
1.23e-4 |
SMART |
BBOX
|
163 |
212 |
2.84e-9 |
SMART |
BBOX
|
224 |
266 |
9.89e-9 |
SMART |
BBC
|
273 |
399 |
1.29e-38 |
SMART |
FN3
|
439 |
522 |
4.09e-7 |
SMART |
Pfam:SPRY
|
598 |
702 |
2.4e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110522
AA Change: T653A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106151 Gene: ENSMUSG00000021071 AA Change: T653A
Domain | Start | End | E-Value | Type |
RING
|
10 |
131 |
1.23e-4 |
SMART |
BBOX
|
163 |
212 |
2.84e-9 |
SMART |
BBOX
|
224 |
266 |
9.89e-9 |
SMART |
BBC
|
273 |
399 |
1.29e-38 |
SMART |
FN3
|
439 |
522 |
4.09e-7 |
SMART |
low complexity region
|
591 |
605 |
N/A |
INTRINSIC |
Pfam:SPRY
|
674 |
776 |
1.5e-9 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000221294
AA Change: T625A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222173
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222316
AA Change: T653A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223160
AA Change: T557A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223518
|
Meta Mutation Damage Score |
0.3745 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (47/48) |
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. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display increased axonal branching and increased corpus callosum thickness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,623,454 (GRCm39) |
|
probably benign |
Het |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Atp8b1 |
A |
G |
18: 64,666,800 (GRCm39) |
|
probably benign |
Het |
Camk2d |
A |
G |
3: 126,565,488 (GRCm39) |
D136G |
probably damaging |
Het |
Capn3 |
G |
A |
2: 120,315,768 (GRCm39) |
D227N |
possibly damaging |
Het |
Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,089,399 (GRCm39) |
T332A |
probably damaging |
Het |
Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
Fbxw18 |
T |
A |
9: 109,517,981 (GRCm39) |
Y335F |
possibly damaging |
Het |
Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
Insig1 |
T |
A |
5: 28,276,701 (GRCm39) |
I89N |
probably damaging |
Het |
Itpkc |
T |
A |
7: 26,927,029 (GRCm39) |
D295V |
possibly damaging |
Het |
Jak1 |
T |
C |
4: 101,048,665 (GRCm39) |
|
probably benign |
Het |
Kctd9 |
G |
A |
14: 67,971,737 (GRCm39) |
D157N |
possibly damaging |
Het |
Kmt2c |
A |
C |
5: 25,610,381 (GRCm39) |
F242V |
probably benign |
Het |
Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
Lin54 |
T |
C |
5: 100,607,665 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
Nr1d2 |
T |
A |
14: 18,211,804 (GRCm38) |
N433I |
possibly damaging |
Het |
Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
Or4c112 |
T |
C |
2: 88,853,954 (GRCm39) |
Y131C |
probably damaging |
Het |
Or4l15 |
T |
C |
14: 50,198,013 (GRCm39) |
N172S |
possibly damaging |
Het |
Pld4 |
T |
C |
12: 112,734,469 (GRCm39) |
I410T |
probably benign |
Het |
Pnma8b |
C |
T |
7: 16,680,521 (GRCm39) |
H502Y |
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,143,212 (GRCm39) |
|
probably benign |
Het |
Rbbp8nl |
G |
T |
2: 179,923,041 (GRCm39) |
T184K |
probably benign |
Het |
Saa4 |
T |
A |
7: 46,379,053 (GRCm39) |
N96Y |
possibly damaging |
Het |
Serpinb6d |
T |
A |
13: 33,851,663 (GRCm39) |
V140E |
probably damaging |
Het |
Ska3 |
A |
T |
14: 58,049,053 (GRCm39) |
M306K |
probably benign |
Het |
Slfn4 |
T |
C |
11: 83,076,137 (GRCm39) |
M1T |
probably null |
Het |
Sorcs1 |
T |
C |
19: 50,139,659 (GRCm39) |
I1168V |
probably benign |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
Ube2j1 |
A |
T |
4: 33,036,723 (GRCm39) |
M16L |
probably benign |
Het |
Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Vmn2r62 |
G |
A |
7: 42,437,311 (GRCm39) |
P391L |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,420,636 (GRCm39) |
|
noncoding transcript |
Het |
Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably damaging |
Het |
|
Other mutations in Trim9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00910:Trim9
|
APN |
12 |
70,393,887 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01618:Trim9
|
APN |
12 |
70,295,125 (GRCm39) |
missense |
probably benign |
|
IGL01794:Trim9
|
APN |
12 |
70,328,654 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03101:Trim9
|
APN |
12 |
70,393,428 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03184:Trim9
|
APN |
12 |
70,297,995 (GRCm39) |
missense |
probably damaging |
0.99 |
E0354:Trim9
|
UTSW |
12 |
70,319,233 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03098:Trim9
|
UTSW |
12 |
70,327,467 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0518:Trim9
|
UTSW |
12 |
70,393,359 (GRCm39) |
missense |
probably damaging |
0.99 |
R0622:Trim9
|
UTSW |
12 |
70,393,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R0941:Trim9
|
UTSW |
12 |
70,295,037 (GRCm39) |
missense |
probably damaging |
0.97 |
R1022:Trim9
|
UTSW |
12 |
70,298,791 (GRCm39) |
splice site |
probably null |
|
R1024:Trim9
|
UTSW |
12 |
70,298,791 (GRCm39) |
splice site |
probably null |
|
R1204:Trim9
|
UTSW |
12 |
70,393,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Trim9
|
UTSW |
12 |
70,297,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1530:Trim9
|
UTSW |
12 |
70,319,202 (GRCm39) |
missense |
probably damaging |
0.98 |
R1613:Trim9
|
UTSW |
12 |
70,295,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R1665:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R1722:Trim9
|
UTSW |
12 |
70,295,148 (GRCm39) |
missense |
probably benign |
0.33 |
R2097:Trim9
|
UTSW |
12 |
70,393,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R3082:Trim9
|
UTSW |
12 |
70,301,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3123:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R3124:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R3125:Trim9
|
UTSW |
12 |
70,295,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R4013:Trim9
|
UTSW |
12 |
70,393,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R4017:Trim9
|
UTSW |
12 |
70,393,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Trim9
|
UTSW |
12 |
70,393,892 (GRCm39) |
nonsense |
probably null |
|
R4734:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Trim9
|
UTSW |
12 |
70,295,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Trim9
|
UTSW |
12 |
70,393,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Trim9
|
UTSW |
12 |
70,393,482 (GRCm39) |
missense |
probably damaging |
0.96 |
R5451:Trim9
|
UTSW |
12 |
70,393,603 (GRCm39) |
missense |
probably benign |
0.17 |
R5471:Trim9
|
UTSW |
12 |
70,393,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6394:Trim9
|
UTSW |
12 |
70,301,987 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6901:Trim9
|
UTSW |
12 |
70,393,413 (GRCm39) |
missense |
probably damaging |
0.96 |
R7549:Trim9
|
UTSW |
12 |
70,393,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R7690:Trim9
|
UTSW |
12 |
70,295,117 (GRCm39) |
missense |
probably benign |
|
R7895:Trim9
|
UTSW |
12 |
70,301,961 (GRCm39) |
missense |
probably benign |
0.03 |
R8003:Trim9
|
UTSW |
12 |
70,393,608 (GRCm39) |
missense |
probably benign |
0.39 |
R8026:Trim9
|
UTSW |
12 |
70,337,161 (GRCm39) |
missense |
probably benign |
0.00 |
R8223:Trim9
|
UTSW |
12 |
70,297,789 (GRCm39) |
missense |
probably damaging |
0.99 |
R8956:Trim9
|
UTSW |
12 |
70,393,665 (GRCm39) |
missense |
probably damaging |
0.97 |
R9017:Trim9
|
UTSW |
12 |
70,314,013 (GRCm39) |
missense |
probably benign |
|
R9475:Trim9
|
UTSW |
12 |
70,393,228 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTCCGGTTATTGTCCAC -3'
(R):5'- GACTCTGGCCCCAAATACTTC -3'
Sequencing Primer
(F):5'- ACATACATTGCCCAAGCTTTG -3'
(R):5'- AAATACTTCCTTCCTGCATGGC -3'
|
Posted On |
2015-03-18 |