Incidental Mutation 'R8026:Trim9'
| ID |
617730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim9
|
| Ensembl Gene |
ENSMUSG00000021071 |
| Gene Name |
tripartite motif-containing 9 |
| Synonyms |
C030048G07Rik |
| MMRRC Submission |
067465-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R8026 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
70291307-70394388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70337161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 309
(S309C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110520]
[ENSMUST00000110522]
[ENSMUST00000167755]
[ENSMUST00000221041]
[ENSMUST00000221370]
[ENSMUST00000222316]
[ENSMUST00000223160]
|
| AlphaFold |
Q8C7M3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110520
AA Change: S309C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: S309C
| 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: S309C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: S309C
| 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 |
probably benign
Transcript: ENSMUST00000167755
AA Change: S309C
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000127081
Gene: ENSMUSG00000021071
AA Change: S309C
| 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: S309C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221370
AA Change: S309C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222316
AA Change: S309C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223160
AA Change: S309C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (66/67) |
| 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 |
|---|
| Abcb8 |
T |
C |
5: 24,611,723 (GRCm39) |
V513A |
probably damaging |
Het |
| Acsf2 |
C |
T |
11: 94,453,714 (GRCm39) |
V416M |
probably damaging |
Het |
| Adrm1 |
G |
A |
2: 179,817,002 (GRCm39) |
A225T |
unknown |
Het |
| Aldh9a1 |
T |
C |
1: 167,180,236 (GRCm39) |
|
probably null |
Het |
| Apbb2 |
T |
C |
5: 66,608,987 (GRCm39) |
D220G |
probably benign |
Het |
| Bace2 |
T |
C |
16: 97,238,052 (GRCm39) |
V501A |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,828,214 (GRCm39) |
N1170S |
probably benign |
Het |
| Casr |
A |
G |
16: 36,315,979 (GRCm39) |
V697A |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,595 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
C |
11: 12,203,459 (GRCm39) |
K1081R |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,633,099 (GRCm39) |
L116I |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,780,312 (GRCm39) |
F616S |
probably damaging |
Het |
| Dynlt1a |
C |
T |
17: 6,362,089 (GRCm39) |
G30S |
possibly damaging |
Het |
| Eif1 |
T |
C |
11: 100,211,274 (GRCm39) |
S23P |
possibly damaging |
Het |
| Eml6 |
A |
C |
11: 29,699,973 (GRCm39) |
L1721R |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,521,049 (GRCm39) |
I139T |
probably benign |
Het |
| Fstl4 |
A |
G |
11: 52,959,496 (GRCm39) |
E179G |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,680,067 (GRCm39) |
T95A |
|
Het |
| Gigyf1 |
C |
T |
5: 137,523,740 (GRCm39) |
H1001Y |
probably damaging |
Het |
| Gm21886 |
T |
A |
18: 80,132,961 (GRCm39) |
S66C |
probably damaging |
Het |
| Helz2 |
G |
A |
2: 180,881,998 (GRCm39) |
T265I |
probably benign |
Het |
| Hs6st3 |
G |
T |
14: 120,106,968 (GRCm39) |
V459F |
probably damaging |
Het |
| Ido2 |
A |
G |
8: 25,025,156 (GRCm39) |
|
probably null |
Het |
| Idua |
A |
G |
5: 108,818,115 (GRCm39) |
I96V |
probably benign |
Het |
| Iftap |
A |
T |
2: 101,400,989 (GRCm39) |
|
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,445,171 (GRCm39) |
S494P |
|
Het |
| Krt19 |
A |
G |
11: 100,032,209 (GRCm39) |
V285A |
probably damaging |
Het |
| Krt71 |
T |
G |
15: 101,646,817 (GRCm39) |
D297A |
possibly damaging |
Het |
| L3hypdh |
G |
A |
12: 72,131,723 (GRCm39) |
R70C |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,303,156 (GRCm39) |
Y324C |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,741,114 (GRCm39) |
D25G |
possibly damaging |
Het |
| Mmp17 |
G |
A |
5: 129,672,148 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
G |
A |
4: 106,578,634 (GRCm39) |
P15S |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,373 (GRCm39) |
C3440S |
probably benign |
Het |
| Naip5 |
C |
A |
13: 100,382,406 (GRCm39) |
S101I |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,113,060 (GRCm39) |
Y1066N |
|
Het |
| Nop56 |
T |
A |
2: 130,119,188 (GRCm39) |
C38S |
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,923,362 (GRCm39) |
L1297Q |
possibly damaging |
Het |
| Oasl2 |
C |
A |
5: 115,040,329 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
A |
G |
2: 89,324,132 (GRCm39) |
F175L |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,675,273 (GRCm39) |
N15D |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,530,904 (GRCm39) |
V182A |
possibly damaging |
Het |
| Or52a5 |
T |
A |
7: 103,427,547 (GRCm39) |
I2F |
probably benign |
Het |
| Or5h24 |
T |
C |
16: 58,918,731 (GRCm39) |
H208R |
unknown |
Het |
| Or8g4 |
T |
C |
9: 39,662,092 (GRCm39) |
S137P |
possibly damaging |
Het |
| Pacrg |
C |
T |
17: 10,795,496 (GRCm39) |
V155I |
probably benign |
Het |
| Patz1 |
A |
T |
11: 3,257,658 (GRCm39) |
M96L |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,075 (GRCm39) |
Y44C |
probably damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,911,675 (GRCm39) |
|
probably null |
Het |
| Raet1e |
A |
C |
10: 22,057,198 (GRCm39) |
D174A |
probably damaging |
Het |
| Rhobtb2 |
T |
G |
14: 70,034,214 (GRCm39) |
D337A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,934,594 (GRCm39) |
K1377E |
probably damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,361,567 (GRCm39) |
K260E |
probably damaging |
Het |
| Slc4a8 |
A |
T |
15: 100,685,170 (GRCm39) |
I234F |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
| Tbxas1 |
C |
T |
6: 39,004,830 (GRCm39) |
T359I |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,659,483 (GRCm39) |
P12191S |
unknown |
Het |
| Unc80 |
A |
G |
1: 66,522,463 (GRCm39) |
R222G |
possibly damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,314 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,141 (GRCm39) |
N251K |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,924 (GRCm39) |
Y694N |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,205,782 (GRCm39) |
F255S |
probably benign |
Het |
| Zfp532 |
T |
G |
18: 65,758,227 (GRCm39) |
I720R |
possibly damaging |
Het |
| Zfp819 |
A |
G |
7: 43,267,319 (GRCm39) |
T601A |
probably benign |
Het |
| Zfp853 |
G |
T |
5: 143,274,280 (GRCm39) |
Q462K |
unknown |
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 |
|
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 |
|
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'- ACCGACAGCATATCCTGGTC -3'
(R):5'- ACAGGACGTTTGTACCACCC -3'
Sequencing Primer
(F):5'- TCCTGGTCTAGAGAAGTCACTCAG -3'
(R):5'- AATTCAAGCTGAAGAGGTGGTTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation