Incidental Mutation 'R3153:Trim10'
ID |
264496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim10
|
Ensembl Gene |
ENSMUSG00000073400 |
Gene Name |
tripartite motif-containing 10 |
Synonyms |
Rnf9, Herf1 |
MMRRC Submission |
040604-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R3153 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
37180466-37188725 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37182580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 149
(C149S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025329]
[ENSMUST00000060524]
[ENSMUST00000174195]
|
AlphaFold |
Q9WUH5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025329
|
SMART Domains |
Protein: ENSMUSP00000025329 Gene: ENSMUSG00000050747
Domain | Start | End | E-Value | Type |
RING
|
15 |
53 |
2e-4 |
SMART |
BBOX
|
73 |
114 |
2.41e-12 |
SMART |
coiled coil region
|
145 |
229 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060524
AA Change: C149S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057928 Gene: ENSMUSG00000073400 AA Change: C149S
Domain | Start | End | E-Value | Type |
RING
|
16 |
60 |
1.2e-7 |
SMART |
BBOX
|
94 |
135 |
5.38e-10 |
SMART |
coiled coil region
|
152 |
175 |
N/A |
INTRINSIC |
low complexity region
|
187 |
207 |
N/A |
INTRINSIC |
PRY
|
309 |
361 |
1.04e-25 |
SMART |
SPRY
|
362 |
485 |
1.51e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173639
|
SMART Domains |
Protein: ENSMUSP00000133638 Gene: ENSMUSG00000050747
Domain | Start | End | E-Value | Type |
SCOP:d1dkza_
|
15 |
105 |
1e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174195
|
SMART Domains |
Protein: ENSMUSP00000133953 Gene: ENSMUSG00000050747
Domain | Start | End | E-Value | Type |
RING
|
15 |
53 |
2e-4 |
SMART |
BBOX
|
73 |
114 |
2.41e-12 |
SMART |
coiled coil region
|
145 |
229 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
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. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
C |
2: 152,282,744 (GRCm39) |
N200H |
probably damaging |
Het |
Abca17 |
T |
A |
17: 24,547,720 (GRCm39) |
D218V |
probably damaging |
Het |
Abhd12 |
A |
G |
2: 150,676,275 (GRCm39) |
F361L |
probably benign |
Het |
Abr |
A |
T |
11: 76,377,295 (GRCm39) |
I59N |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,369,944 (GRCm39) |
E681G |
probably damaging |
Het |
B3gnt4 |
G |
T |
5: 123,648,716 (GRCm39) |
R27L |
probably benign |
Het |
Cct8l1 |
A |
C |
5: 25,722,137 (GRCm39) |
E284A |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,855,174 (GRCm39) |
N2134K |
probably benign |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
Cndp2 |
C |
A |
18: 84,686,722 (GRCm39) |
M433I |
probably benign |
Het |
Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Col20a1 |
C |
T |
2: 180,650,386 (GRCm39) |
P1074L |
probably damaging |
Het |
Coq6 |
G |
A |
12: 84,418,309 (GRCm39) |
V298M |
probably damaging |
Het |
Cpt1a |
A |
G |
19: 3,406,430 (GRCm39) |
Y132C |
probably damaging |
Het |
Dcdc2a |
A |
C |
13: 25,286,340 (GRCm39) |
I125L |
probably benign |
Het |
Eps8l1 |
A |
T |
7: 4,474,798 (GRCm39) |
I321F |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,570,230 (GRCm39) |
S1394G |
possibly damaging |
Het |
Fcrl5 |
T |
C |
3: 87,350,987 (GRCm39) |
F166L |
probably benign |
Het |
Gatc |
T |
C |
5: 115,473,546 (GRCm39) |
E131G |
probably benign |
Het |
Gpld1 |
T |
C |
13: 25,127,603 (GRCm39) |
S2P |
unknown |
Het |
Gprc5b |
G |
A |
7: 118,575,770 (GRCm39) |
P385L |
probably damaging |
Het |
Gsc2 |
G |
A |
16: 17,732,364 (GRCm39) |
R137W |
probably damaging |
Het |
Hsd3b1 |
T |
C |
3: 98,759,980 (GRCm39) |
D337G |
probably damaging |
Het |
Ireb2 |
T |
C |
9: 54,793,230 (GRCm39) |
|
probably null |
Het |
Kank1 |
T |
A |
19: 25,388,052 (GRCm39) |
V575E |
possibly damaging |
Het |
Kcnmb1 |
A |
T |
11: 33,916,339 (GRCm39) |
D95V |
probably damaging |
Het |
L3mbtl4 |
T |
A |
17: 68,764,243 (GRCm39) |
Y125* |
probably null |
Het |
Lce1h |
C |
T |
3: 92,670,982 (GRCm39) |
G57R |
unknown |
Het |
Lgalsl |
A |
G |
11: 20,776,487 (GRCm39) |
F135S |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,192,526 (GRCm39) |
M147V |
probably damaging |
Het |
Mdm2 |
T |
C |
10: 117,545,618 (GRCm39) |
E23G |
possibly damaging |
Het |
Mthfd1 |
C |
A |
12: 76,358,737 (GRCm39) |
Q67K |
probably benign |
Het |
Mtus2 |
T |
C |
5: 148,019,870 (GRCm39) |
L755P |
probably damaging |
Het |
Or5m13b |
T |
C |
2: 85,754,074 (GRCm39) |
V154A |
probably benign |
Het |
Orc3 |
A |
G |
4: 34,575,124 (GRCm39) |
F587L |
probably damaging |
Het |
Pcdhb7 |
C |
T |
18: 37,476,126 (GRCm39) |
P421S |
probably damaging |
Het |
Pgk2 |
T |
A |
17: 40,519,134 (GRCm39) |
D98V |
probably damaging |
Het |
Pkd1l1 |
A |
C |
11: 8,817,207 (GRCm39) |
S1364A |
probably benign |
Het |
Rin3 |
A |
C |
12: 102,334,800 (GRCm39) |
E157A |
unknown |
Het |
Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
Rph3a |
T |
C |
5: 121,111,440 (GRCm39) |
T47A |
probably damaging |
Het |
Sap18 |
T |
C |
14: 58,039,402 (GRCm39) |
M68T |
probably benign |
Het |
Sfrp2 |
A |
G |
3: 83,680,577 (GRCm39) |
T246A |
probably benign |
Het |
Slc18a3 |
A |
G |
14: 32,185,228 (GRCm39) |
V385A |
probably benign |
Het |
Slitrk3 |
C |
T |
3: 72,956,315 (GRCm39) |
W819* |
probably null |
Het |
Smap1 |
A |
T |
1: 23,892,630 (GRCm39) |
D111E |
probably damaging |
Het |
Spesp1 |
G |
A |
9: 62,189,376 (GRCm39) |
|
probably benign |
Het |
Styk1 |
A |
T |
6: 131,286,975 (GRCm39) |
Y84* |
probably null |
Het |
Sv2a |
T |
A |
3: 96,092,574 (GRCm39) |
D91E |
possibly damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,275,264 (GRCm39) |
I77T |
probably damaging |
Het |
Zbtb38 |
T |
C |
9: 96,570,302 (GRCm39) |
K261E |
probably benign |
Het |
Zfp202 |
T |
C |
9: 40,119,734 (GRCm39) |
L179P |
probably benign |
Het |
Zkscan5 |
T |
A |
5: 145,149,437 (GRCm39) |
S251R |
probably benign |
Het |
|
Other mutations in Trim10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Trim10
|
APN |
17 |
37,188,140 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00501:Trim10
|
APN |
17 |
37,187,939 (GRCm39) |
missense |
probably benign |
0.08 |
IGL00846:Trim10
|
APN |
17 |
37,182,584 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01536:Trim10
|
APN |
17 |
37,188,180 (GRCm39) |
splice site |
probably null |
|
IGL02814:Trim10
|
APN |
17 |
37,188,228 (GRCm39) |
nonsense |
probably null |
|
IGL03135:Trim10
|
APN |
17 |
37,185,113 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL03144:Trim10
|
APN |
17 |
37,187,740 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03298:Trim10
|
APN |
17 |
37,187,917 (GRCm39) |
missense |
possibly damaging |
0.87 |
PIT4378001:Trim10
|
UTSW |
17 |
37,188,020 (GRCm39) |
missense |
probably damaging |
0.98 |
R0102:Trim10
|
UTSW |
17 |
37,181,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R0102:Trim10
|
UTSW |
17 |
37,181,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Trim10
|
UTSW |
17 |
37,183,283 (GRCm39) |
missense |
probably benign |
0.00 |
R1517:Trim10
|
UTSW |
17 |
37,183,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R1691:Trim10
|
UTSW |
17 |
37,187,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Trim10
|
UTSW |
17 |
37,188,073 (GRCm39) |
nonsense |
probably null |
|
R2149:Trim10
|
UTSW |
17 |
37,187,906 (GRCm39) |
missense |
probably benign |
0.18 |
R3154:Trim10
|
UTSW |
17 |
37,182,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R5156:Trim10
|
UTSW |
17 |
37,187,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R5327:Trim10
|
UTSW |
17 |
37,181,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:Trim10
|
UTSW |
17 |
37,186,328 (GRCm39) |
missense |
probably benign |
0.03 |
R5758:Trim10
|
UTSW |
17 |
37,188,044 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5764:Trim10
|
UTSW |
17 |
37,181,073 (GRCm39) |
missense |
probably damaging |
0.97 |
R6032:Trim10
|
UTSW |
17 |
37,182,606 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6032:Trim10
|
UTSW |
17 |
37,182,606 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6179:Trim10
|
UTSW |
17 |
37,187,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R6709:Trim10
|
UTSW |
17 |
37,183,262 (GRCm39) |
missense |
probably damaging |
0.99 |
R7172:Trim10
|
UTSW |
17 |
37,180,955 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7197:Trim10
|
UTSW |
17 |
37,187,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R7390:Trim10
|
UTSW |
17 |
37,180,773 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R7391:Trim10
|
UTSW |
17 |
37,180,773 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R7696:Trim10
|
UTSW |
17 |
37,182,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R8830:Trim10
|
UTSW |
17 |
37,180,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R8867:Trim10
|
UTSW |
17 |
37,181,048 (GRCm39) |
missense |
probably benign |
0.00 |
R8970:Trim10
|
UTSW |
17 |
37,184,168 (GRCm39) |
missense |
probably benign |
0.00 |
R9376:Trim10
|
UTSW |
17 |
37,184,168 (GRCm39) |
missense |
probably benign |
0.00 |
R9635:Trim10
|
UTSW |
17 |
37,187,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTGCTCAAAATCTCTAGGAC -3'
(R):5'- CAGGATTCCGATTCAGAGAGCTC -3'
Sequencing Primer
(F):5'- GTAAGCCTGGACTACATGAGATCC -3'
(R):5'- GATTCAGAGAGCTCCACGTCTCTG -3'
|
Posted On |
2015-02-05 |