Incidental Mutation 'R6901:Trim9'
| ID |
538548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim9
|
| Ensembl Gene |
ENSMUSG00000021071 |
| Gene Name |
tripartite motif-containing 9 |
| Synonyms |
C030048G07Rik |
| MMRRC Submission |
044995-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R6901 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70393413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 177
(E177G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000167755]
[ENSMUST00000221041]
[ENSMUST00000221370]
[ENSMUST00000222316]
[ENSMUST00000223160]
|
| AlphaFold |
Q8C7M3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110520
AA Change: E177G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: E177G
| 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 benign
Transcript: ENSMUST00000110522
AA Change: E177G
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: E177G
| 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 |
possibly damaging
Transcript: ENSMUST00000167755
AA Change: E177G
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127081
Gene: ENSMUSG00000021071
AA Change: E177G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221041
AA Change: E177G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221370
AA Change: E177G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222316
AA Change: E177G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223160
AA Change: E177G
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| 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. 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
A |
9: 122,197,220 (GRCm39) |
S136T |
probably benign |
Het |
| Anxa10 |
T |
C |
8: 62,549,816 (GRCm39) |
T10A |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,554,650 (GRCm39) |
E262G |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,134,660 (GRCm39) |
|
probably null |
Het |
| Arhgef40 |
A |
G |
14: 52,234,825 (GRCm39) |
T1043A |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,250,232 (GRCm39) |
S328T |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,113,911 (GRCm39) |
K166R |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,583,872 (GRCm39) |
I571V |
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,501,987 (GRCm39) |
V316I |
probably benign |
Het |
| Cebpg |
A |
T |
7: 34,750,202 (GRCm39) |
H20Q |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,873,330 (GRCm39) |
V392I |
probably benign |
Het |
| CN725425 |
C |
A |
15: 91,124,966 (GRCm39) |
P169T |
possibly damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,703 (GRCm39) |
F243S |
probably damaging |
Het |
| Dkk2 |
T |
A |
3: 131,880,887 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,131,855 (GRCm39) |
Y1651H |
probably damaging |
Het |
| Dyrk1b |
T |
A |
7: 27,884,542 (GRCm39) |
L346Q |
probably damaging |
Het |
| Ephx4 |
T |
C |
5: 107,561,427 (GRCm39) |
V85A |
probably benign |
Het |
| Etv6 |
A |
G |
6: 134,243,421 (GRCm39) |
E392G |
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,341,221 (GRCm39) |
N202I |
probably benign |
Het |
| Gpc6 |
G |
T |
14: 118,188,629 (GRCm39) |
R421L |
possibly damaging |
Het |
| Gse1 |
A |
G |
8: 120,956,561 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,089 (GRCm39) |
E360G |
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,492,675 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,756,190 (GRCm39) |
E136G |
probably damaging |
Het |
| Ift56 |
G |
A |
6: 38,378,079 (GRCm39) |
R297H |
possibly damaging |
Het |
| Kcna3 |
C |
T |
3: 106,943,884 (GRCm39) |
A49V |
probably benign |
Het |
| Krt42 |
C |
T |
11: 100,160,542 (GRCm39) |
M52I |
probably benign |
Het |
| Lyrm4 |
A |
T |
13: 36,301,107 (GRCm39) |
Y13N |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,460,932 (GRCm39) |
S1576L |
possibly damaging |
Het |
| Map3k12 |
G |
T |
15: 102,409,064 (GRCm39) |
P817Q |
possibly damaging |
Het |
| Map3k12 |
G |
T |
15: 102,409,065 (GRCm39) |
P817T |
possibly damaging |
Het |
| Masp1 |
T |
C |
16: 23,332,584 (GRCm39) |
K84E |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,310,489 (GRCm39) |
|
probably null |
Het |
| Mrap |
C |
G |
16: 90,546,193 (GRCm39) |
S94C |
probably damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,154,779 (GRCm39) |
C986F |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,926,836 (GRCm39) |
M789R |
probably damaging |
Het |
| Or2ag1b |
T |
C |
7: 106,288,396 (GRCm39) |
I181V |
probably benign |
Het |
| Or6b2 |
G |
T |
1: 92,408,327 (GRCm39) |
N5K |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,116,266 (GRCm39) |
N475S |
probably benign |
Het |
| Pex7 |
C |
T |
10: 19,736,740 (GRCm39) |
V297I |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,341,246 (GRCm39) |
H33L |
unknown |
Het |
| Prl8a6 |
A |
T |
13: 27,621,030 (GRCm39) |
Y67N |
possibly damaging |
Het |
| Rcor1 |
A |
T |
12: 111,075,322 (GRCm39) |
E383V |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,903,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Snx7 |
G |
A |
3: 117,623,285 (GRCm39) |
Q292* |
probably null |
Het |
| Tgm3 |
C |
T |
2: 129,883,890 (GRCm39) |
T516M |
possibly damaging |
Het |
| Ttc28 |
C |
A |
5: 111,424,891 (GRCm39) |
T1541N |
possibly damaging |
Het |
| Ttc8 |
T |
A |
12: 98,927,735 (GRCm39) |
L202H |
probably damaging |
Het |
| Ttll13 |
T |
C |
7: 79,899,930 (GRCm39) |
Y90H |
probably damaging |
Het |
| Uba1y |
T |
G |
Y: 825,496 (GRCm39) |
I286S |
probably benign |
Het |
| Ubxn11 |
G |
A |
4: 133,853,575 (GRCm39) |
A125T |
probably damaging |
Het |
| Vmn1r48 |
A |
G |
6: 90,013,550 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,368 (GRCm39) |
F223L |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,313,880 (GRCm39) |
T696I |
probably benign |
Het |
| Zfp266 |
G |
T |
9: 20,410,895 (GRCm39) |
Y427* |
probably null |
Het |
| Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
probably damaging |
Het |
| Zfp385c |
T |
C |
11: 100,523,585 (GRCm39) |
N123S |
probably benign |
Het |
| Zfp936 |
T |
A |
7: 42,839,467 (GRCm39) |
H311Q |
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 |
|
R3738:Trim9
|
UTSW |
12 |
70,297,969 (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 |
|
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'- ACATGCTGTGGTTCTCCAGC -3'
(R):5'- AGATGAGCCTGTACAGCGAG -3'
Sequencing Primer
(F):5'- CAGCTCGTGGTCTGTGCAG -3'
(R):5'- TCCTACGGAGGTTTCGCCAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation