Incidental Mutation 'IGL03144:Trim10'
| ID |
410823 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim10
|
| Ensembl Gene |
ENSMUSG00000073400 |
| Gene Name |
tripartite motif-containing 10 |
| Synonyms |
Rnf9, Herf1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL03144
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37180466-37188725 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37187740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 319
(S319P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060524]
[ENSMUST00000087158]
[ENSMUST00000172711]
|
| AlphaFold |
Q9WUH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060524
AA Change: S319P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400
AA Change: S319P
| 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: ENSMUST00000087158
|
| SMART Domains |
Protein: ENSMUSP00000084400
Gene: ENSMUSG00000073399
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
54 |
6e-8 |
SMART |
|
Pfam:zf-B_box
|
65 |
105 |
1.1e-6 |
PFAM |
|
coiled coil region
|
106 |
150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172711
|
| SMART Domains |
Protein: ENSMUSP00000133581
Gene: ENSMUSG00000073399
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
12 |
54 |
6e-8 |
SMART |
|
Pfam:zf-B_box
|
65 |
105 |
3.4e-7 |
PFAM |
|
coiled coil region
|
106 |
150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
A |
17: 24,600,938 (GRCm39) |
Q451K |
probably benign |
Het |
| Acly |
A |
T |
11: 100,405,909 (GRCm39) |
D294E |
possibly damaging |
Het |
| Arid3a |
C |
T |
10: 79,782,316 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,643,539 (GRCm39) |
V1830A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,735,333 (GRCm39) |
V467A |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,736,327 (GRCm39) |
I1233L |
probably damaging |
Het |
| Ccdc74a |
C |
A |
16: 17,466,730 (GRCm39) |
Q146K |
possibly damaging |
Het |
| Cdh26 |
A |
G |
2: 178,109,967 (GRCm39) |
D420G |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,444 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cmya5 |
C |
A |
13: 93,227,376 (GRCm39) |
A2571S |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,763 (GRCm39) |
S360P |
probably damaging |
Het |
| Col26a1 |
G |
T |
5: 136,794,202 (GRCm39) |
T132N |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,259 (GRCm39) |
H224L |
probably benign |
Het |
| Cpm |
C |
T |
10: 117,519,319 (GRCm39) |
S409L |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,742,906 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,557,603 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Exosc9 |
G |
A |
3: 36,608,284 (GRCm39) |
G126D |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,420,453 (GRCm39) |
S256P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,541 (GRCm39) |
D994G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,011,008 (GRCm39) |
Q2036R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,798 (GRCm39) |
Q662R |
probably null |
Het |
| Gm13271 |
A |
G |
4: 88,673,636 (GRCm39) |
R178G |
probably benign |
Het |
| Gpr165 |
T |
A |
X: 95,760,560 (GRCm39) |
L279Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,112 (GRCm39) |
L328P |
probably damaging |
Het |
| Klhl26 |
C |
T |
8: 70,905,214 (GRCm39) |
R198H |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,123,115 (GRCm39) |
R973G |
possibly damaging |
Het |
| Nmi |
A |
T |
2: 51,842,546 (GRCm39) |
F182Y |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,475 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Ooep |
G |
T |
9: 78,285,289 (GRCm39) |
A109E |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,093 (GRCm39) |
T282A |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,387,591 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,459 (GRCm39) |
N127D |
probably damaging |
Het |
| Rabgap1 |
G |
A |
2: 37,430,544 (GRCm39) |
R695H |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,426,327 (GRCm39) |
G3R |
possibly damaging |
Het |
| Slc17a3 |
T |
C |
13: 24,030,423 (GRCm39) |
M178T |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,589,971 (GRCm39) |
E287G |
probably benign |
Het |
| Slc44a5 |
G |
T |
3: 153,949,177 (GRCm39) |
D217Y |
possibly damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,080,810 (GRCm39) |
V346L |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,651,362 (GRCm39) |
Y547H |
probably damaging |
Het |
| St6galnac3 |
A |
C |
3: 152,911,164 (GRCm39) |
Y266D |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,609,182 (GRCm39) |
Y3F |
possibly damaging |
Het |
| Stk25 |
C |
A |
1: 93,556,858 (GRCm39) |
L53F |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,081,474 (GRCm39) |
|
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,135,400 (GRCm39) |
M1L |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,721,766 (GRCm39) |
P466T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,008,401 (GRCm39) |
I256T |
probably damaging |
Het |
| Vmn2r125 |
G |
T |
4: 156,702,314 (GRCm39) |
L33F |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation