Incidental Mutation 'R1613:Trim9'
| ID |
176951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim9
|
| Ensembl Gene |
ENSMUSG00000021071 |
| Gene Name |
tripartite motif-containing 9 |
| Synonyms |
C030048G07Rik |
| MMRRC Submission |
039650-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R1613 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70295169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 651
(I651N)
|
| 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: I651N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: I651N
| 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 |
possibly damaging
Transcript: ENSMUST00000110522
AA Change: I725N
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: I725N
| 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: I697N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222173
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222316
AA Change: I743N
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223160
AA Change: I647N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223518
|
| Meta Mutation Damage Score |
0.9268 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
82% (69/84) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aldh3a1 |
A |
T |
11: 61,105,377 (GRCm39) |
D161V |
probably damaging |
Het |
| Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
| Amfr |
T |
A |
8: 94,725,854 (GRCm39) |
M176L |
probably benign |
Het |
| Amigo1 |
A |
T |
3: 108,095,536 (GRCm39) |
E345V |
probably benign |
Het |
| Atp13a3 |
T |
C |
16: 30,151,118 (GRCm39) |
Y1064C |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,073,578 (GRCm39) |
C271S |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,470,222 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,499,522 (GRCm39) |
I887F |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,547,973 (GRCm39) |
|
probably benign |
Het |
| Cntn1 |
T |
A |
15: 92,143,871 (GRCm39) |
V278E |
possibly damaging |
Het |
| Col6a6 |
A |
C |
9: 105,609,410 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
C |
T |
1: 10,203,466 (GRCm39) |
R1016C |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,527,455 (GRCm39) |
Y267C |
probably damaging |
Het |
| Cyp2c67 |
C |
T |
19: 39,614,643 (GRCm39) |
V295I |
probably benign |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,640 (GRCm39) |
T122A |
unknown |
Het |
| Dennd10 |
T |
A |
19: 60,810,763 (GRCm39) |
V171D |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,289,311 (GRCm39) |
I2541T |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,113,620 (GRCm39) |
A438V |
possibly damaging |
Het |
| Fam178b |
C |
A |
1: 36,639,273 (GRCm39) |
W342L |
probably benign |
Het |
| Fam78a |
G |
T |
2: 31,959,581 (GRCm39) |
N176K |
probably damaging |
Het |
| Ghrhr |
A |
T |
6: 55,356,682 (GRCm39) |
K93M |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,953,002 (GRCm39) |
|
probably null |
Het |
| Gm1553 |
G |
A |
10: 82,328,430 (GRCm39) |
|
probably benign |
Het |
| Gm5885 |
G |
A |
6: 133,508,205 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
G |
A |
13: 50,056,474 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxc6 |
C |
T |
15: 102,918,017 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,223,348 (GRCm39) |
T1189A |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,418,205 (GRCm39) |
E55G |
probably damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,527,760 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,114,918 (GRCm39) |
G2356S |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,589 (GRCm39) |
|
probably null |
Het |
| Me3 |
T |
C |
7: 89,435,628 (GRCm39) |
|
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,170,338 (GRCm39) |
D258G |
probably damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,556 (GRCm39) |
D145G |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,105 (GRCm39) |
K169R |
probably damaging |
Het |
| Or10j3b |
C |
T |
1: 173,043,434 (GRCm39) |
T72I |
probably benign |
Het |
| Or1ad1 |
T |
A |
11: 50,876,045 (GRCm39) |
N172K |
probably damaging |
Het |
| Or1j20 |
A |
C |
2: 36,760,405 (GRCm39) |
I276L |
possibly damaging |
Het |
| Or2y1e |
A |
G |
11: 49,218,520 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or4a67 |
T |
C |
2: 88,598,149 (GRCm39) |
N170S |
probably damaging |
Het |
| Or4k1 |
A |
C |
14: 50,377,751 (GRCm39) |
L115R |
probably damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,407 (GRCm39) |
L200Q |
probably damaging |
Het |
| P4ha3 |
A |
T |
7: 99,962,457 (GRCm39) |
D405V |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,153 (GRCm39) |
D448G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,059 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
T |
C |
7: 141,020,690 (GRCm39) |
E469G |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,684,737 (GRCm39) |
D875G |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,050,740 (GRCm39) |
L886P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,391 (GRCm39) |
R1454C |
probably damaging |
Het |
| Slc24a1 |
A |
G |
9: 64,855,978 (GRCm39) |
S310P |
unknown |
Het |
| Slc44a5 |
A |
G |
3: 153,963,351 (GRCm39) |
|
probably null |
Het |
| Snx4 |
T |
G |
16: 33,106,416 (GRCm39) |
M283R |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,623,222 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
T |
17: 35,043,574 (GRCm39) |
L212H |
probably damaging |
Het |
| Sult2a4 |
T |
C |
7: 13,723,420 (GRCm39) |
K32E |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,442,193 (GRCm39) |
Y473N |
probably damaging |
Het |
| Tlr2 |
C |
G |
3: 83,744,660 (GRCm39) |
L474F |
probably damaging |
Het |
| Tnfrsf4 |
T |
A |
4: 156,100,619 (GRCm39) |
F213I |
probably benign |
Het |
| Vmn1r84 |
T |
A |
7: 12,096,460 (GRCm39) |
I78L |
possibly damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,356 (GRCm39) |
Y561H |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,901 (GRCm39) |
|
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,735,431 (GRCm39) |
N10S |
probably benign |
Het |
| Zfp81 |
A |
T |
17: 33,553,757 (GRCm39) |
H352Q |
probably damaging |
Het |
| Zscan5b |
T |
A |
7: 6,233,374 (GRCm39) |
L66Q |
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 |
|
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 |
|
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'- AGCAGCCAGTCTGTTGAAGTCATTC -3'
(R):5'- GGTAAAAGCCAGCGGCAAACTC -3'
Sequencing Primer
(F):5'- CTGTTGAAGTCATTCAGGTCTAC -3'
(R):5'- CTCACCTACTATACATGGGGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation