Incidental Mutation 'R3154:Trim10'
ID |
263437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim10
|
Ensembl Gene |
ENSMUSG00000073400 |
Gene Name |
tripartite motif-containing 10 |
Synonyms |
Rnf9, Herf1 |
MMRRC Submission |
040605-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R3154 (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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 52 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 |
Ap1b1 |
T |
C |
11: 4,973,135 (GRCm39) |
V326A |
possibly damaging |
Het |
Bdp1 |
A |
T |
13: 100,186,322 (GRCm39) |
V1710E |
probably damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
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 |
Cobll1 |
A |
T |
2: 64,937,394 (GRCm39) |
M406K |
probably benign |
Het |
Cyp2d34 |
T |
C |
15: 82,501,767 (GRCm39) |
K248E |
probably benign |
Het |
Dcdc2a |
A |
C |
13: 25,286,340 (GRCm39) |
I125L |
probably benign |
Het |
Dgat1 |
G |
A |
15: 76,386,721 (GRCm39) |
L439F |
probably benign |
Het |
Disc1 |
T |
A |
8: 125,862,043 (GRCm39) |
S472T |
probably damaging |
Het |
Dnajb3 |
C |
A |
1: 88,132,773 (GRCm39) |
V210F |
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,570,230 (GRCm39) |
S1394G |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,632,242 (GRCm39) |
C2335S |
probably damaging |
Het |
Gpld1 |
T |
C |
13: 25,127,603 (GRCm39) |
S2P |
unknown |
Het |
Gpld1 |
G |
T |
13: 25,140,146 (GRCm39) |
|
probably null |
Het |
Gsc2 |
G |
A |
16: 17,732,364 (GRCm39) |
R137W |
probably damaging |
Het |
Gsdme |
T |
C |
6: 50,228,343 (GRCm39) |
R42G |
probably damaging |
Het |
Gtf3c5 |
T |
C |
2: 28,469,548 (GRCm39) |
T119A |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 120,106,389 (GRCm39) |
S266P |
probably damaging |
Het |
Htr2a |
T |
C |
14: 74,943,262 (GRCm39) |
F281L |
probably benign |
Het |
Hus1b |
T |
C |
13: 31,131,236 (GRCm39) |
K141R |
probably benign |
Het |
Ireb2 |
T |
C |
9: 54,793,230 (GRCm39) |
|
probably null |
Het |
Klhdc7a |
T |
A |
4: 139,693,024 (GRCm39) |
Y641F |
probably benign |
Het |
Kri1 |
T |
C |
9: 21,193,190 (GRCm39) |
E57G |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,828,860 (GRCm39) |
T82A |
probably benign |
Het |
Mthfr |
T |
G |
4: 148,136,061 (GRCm39) |
M353R |
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,240,083 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
A |
7: 141,346,473 (GRCm39) |
|
probably null |
Het |
Myo15a |
T |
A |
11: 60,370,186 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
T |
14: 56,101,044 (GRCm39) |
Q278L |
possibly damaging |
Het |
Pced1b |
T |
G |
15: 97,282,423 (GRCm39) |
|
probably null |
Het |
Penk |
T |
C |
4: 4,134,152 (GRCm39) |
D165G |
probably damaging |
Het |
Pfkm |
T |
A |
15: 98,016,090 (GRCm39) |
V90D |
probably damaging |
Het |
Pgk2 |
T |
A |
17: 40,519,134 (GRCm39) |
D98V |
probably damaging |
Het |
Psg28 |
C |
A |
7: 18,160,348 (GRCm39) |
A283S |
possibly damaging |
Het |
Rgl3 |
A |
G |
9: 21,892,070 (GRCm39) |
L338P |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
Ros1 |
T |
C |
10: 51,927,077 (GRCm39) |
H2181R |
probably benign |
Het |
Slc38a11 |
C |
T |
2: 65,160,679 (GRCm39) |
C305Y |
probably damaging |
Het |
Speg |
T |
A |
1: 75,378,186 (GRCm39) |
V798E |
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 |
Syt2 |
T |
C |
1: 134,669,599 (GRCm39) |
L80P |
possibly damaging |
Het |
Tra2a |
C |
T |
6: 49,222,446 (GRCm39) |
|
probably benign |
Het |
Vmn2r38 |
T |
C |
7: 9,097,689 (GRCm39) |
T135A |
probably benign |
Het |
Wipf1 |
A |
G |
2: 73,267,834 (GRCm39) |
V188A |
possibly damaging |
Het |
Yipf2 |
G |
A |
9: 21,501,197 (GRCm39) |
A67V |
probably benign |
Het |
Zfp759 |
A |
G |
13: 67,286,719 (GRCm39) |
E96G |
probably benign |
Het |
Zic3 |
G |
A |
X: 57,076,838 (GRCm39) |
V100M |
possibly damaging |
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 |
R3153: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'- ATCTCTAGGACATAAAGCAAGAGTC -3'
(R):5'- GGATTCCGATTCAGAGAGCTCC -3'
Sequencing Primer
(F):5'- GTAAGCCTGGACTACATGAGATCC -3'
(R):5'- GATTCAGAGAGCTCCACGTCTCTG -3'
|
Posted On |
2015-02-05 |