Incidental Mutation 'R7696:Trim10'
| ID |
593679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim10
|
| Ensembl Gene |
ENSMUSG00000073400 |
| Gene Name |
tripartite motif-containing 10 |
| Synonyms |
Rnf9, Herf1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37180466-37188725 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37182644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 170
(R170K)
|
| 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: R170K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400
AA Change: R170K
| 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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
C |
T |
15: 11,258,224 (GRCm39) |
R512C |
probably damaging |
Het |
| Afap1l2 |
C |
A |
19: 56,902,918 (GRCm39) |
V754L |
probably damaging |
Het |
| Atp5f1a |
T |
A |
18: 77,868,686 (GRCm39) |
I393N |
probably damaging |
Het |
| Bbs1 |
C |
T |
19: 4,941,017 (GRCm39) |
|
probably null |
Het |
| Bglap2 |
A |
T |
3: 88,285,923 (GRCm39) |
L12Q |
unknown |
Het |
| Bsn |
C |
T |
9: 107,991,700 (GRCm39) |
V1351I |
probably damaging |
Het |
| Cbx1 |
T |
C |
11: 96,697,468 (GRCm39) |
V147A |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,953,434 (GRCm39) |
S484T |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,921,106 (GRCm39) |
I298K |
unknown |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,198 (GRCm39) |
I128L |
probably benign |
Het |
| Dhdds |
C |
T |
4: 133,724,225 (GRCm39) |
A30T |
probably damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,242,911 (GRCm39) |
N143S |
probably benign |
Het |
| Eno3 |
T |
G |
11: 70,552,809 (GRCm39) |
N363K |
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,364 (GRCm39) |
D267E |
probably damaging |
Het |
| Galr2 |
C |
T |
11: 116,173,993 (GRCm39) |
R208C |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,788,712 (GRCm39) |
R82C |
unknown |
Het |
| Hspg2 |
T |
A |
4: 137,239,277 (GRCm39) |
F401L |
possibly damaging |
Het |
| Iars1 |
G |
T |
13: 49,860,214 (GRCm39) |
W455L |
probably damaging |
Het |
| Irf1 |
C |
T |
11: 53,667,162 (GRCm39) |
H294Y |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,929,356 (GRCm39) |
L1091P |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,263 (GRCm39) |
D2054A |
probably benign |
Het |
| Map3k2 |
T |
A |
18: 32,353,647 (GRCm39) |
H472Q |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,840,158 (GRCm39) |
D2545G |
probably damaging |
Het |
| Nle1 |
G |
T |
11: 82,795,792 (GRCm39) |
Y218* |
probably null |
Het |
| Pdlim5 |
A |
T |
3: 141,983,623 (GRCm39) |
S377T |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,662,726 (GRCm39) |
M259K |
probably benign |
Het |
| Pou6f1 |
A |
G |
15: 100,481,979 (GRCm39) |
V268A |
probably benign |
Het |
| Prn |
C |
A |
2: 131,788,365 (GRCm39) |
L7I |
unknown |
Het |
| Prpf6 |
C |
T |
2: 181,250,035 (GRCm39) |
A65V |
possibly damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,345 (GRCm39) |
F138L |
probably benign |
Het |
| Ros1 |
C |
T |
10: 52,018,379 (GRCm39) |
V781M |
probably damaging |
Het |
| Sec16a |
C |
A |
2: 26,305,645 (GRCm39) |
|
probably null |
Het |
| Slc44a4 |
G |
A |
17: 35,147,676 (GRCm39) |
G606D |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,756,237 (GRCm39) |
C538* |
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,513,336 (GRCm39) |
Y537C |
probably benign |
Het |
| Speg |
T |
A |
1: 75,405,805 (GRCm39) |
L3003Q |
probably damaging |
Het |
| Ssr3 |
A |
G |
3: 65,299,886 (GRCm39) |
S25P |
probably benign |
Het |
| Stard13 |
C |
A |
5: 150,984,267 (GRCm39) |
R623L |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,181,605 (GRCm39) |
I376T |
probably damaging |
Het |
| Tigd4 |
C |
A |
3: 84,502,224 (GRCm39) |
F380L |
possibly damaging |
Het |
| Tmc4 |
T |
C |
7: 3,672,574 (GRCm39) |
K489E |
probably damaging |
Het |
| Tmem114 |
C |
T |
16: 8,242,353 (GRCm39) |
R55H |
probably benign |
Het |
| Tmem168 |
A |
G |
6: 13,602,937 (GRCm39) |
I143T |
probably benign |
Het |
| Tmem87b |
C |
T |
2: 128,683,237 (GRCm39) |
T397I |
probably damaging |
Het |
| Tom1l1 |
C |
A |
11: 90,563,741 (GRCm39) |
R173L |
probably benign |
Het |
| Usp6nl |
T |
A |
2: 6,429,134 (GRCm39) |
Y222N |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,494 (GRCm39) |
I690F |
possibly damaging |
Het |
| Zfp1006 |
A |
G |
8: 129,945,794 (GRCm39) |
Y344H |
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 |
|
R3153:Trim10
|
UTSW |
17 |
37,182,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AATCTCTCAAGGTGCTGGGG -3'
(R):5'- CCTGCACTGATTTGATAAGGAAATG -3'
Sequencing Primer
(F):5'- GTGCTGGGGTTCACACTCATC -3'
(R):5'- GAACCTTAATCTCCATTCTTACAGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation