Incidental Mutation 'IGL01536:Trim10'
| ID |
89955 |
| 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: 0.080)
|
| Stock # |
IGL01536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37180466-37188725 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4557 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 37188180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060524]
[ENSMUST00000087158]
[ENSMUST00000172711]
|
| AlphaFold |
Q9WUH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060524
AA Change: F465L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400
AA Change: F465L
| 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 null
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 null
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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp5f1a |
T |
C |
18: 77,868,012 (GRCm39) |
|
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,505 (GRCm39) |
I81V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,422,237 (GRCm39) |
D560G |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,316,859 (GRCm39) |
Y826H |
probably damaging |
Het |
| Dtx2 |
A |
G |
5: 136,038,940 (GRCm39) |
|
probably benign |
Het |
| Enpp4 |
T |
C |
17: 44,410,494 (GRCm39) |
K361E |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,542 (GRCm39) |
K294* |
probably null |
Het |
| Erbb4 |
T |
A |
1: 68,329,441 (GRCm39) |
Y636F |
probably benign |
Het |
| Fads1 |
C |
A |
19: 10,171,394 (GRCm39) |
Q342K |
probably benign |
Het |
| Fntb |
A |
T |
12: 76,966,904 (GRCm39) |
T447S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,857,868 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,531,522 (GRCm39) |
I463T |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,905,765 (GRCm39) |
T726K |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,021,966 (GRCm39) |
S275P |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,873,868 (GRCm39) |
S425P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,000,895 (GRCm39) |
I2224V |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,606,410 (GRCm39) |
T173S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,584,340 (GRCm39) |
Y2590H |
possibly damaging |
Het |
| Myo18a |
C |
T |
11: 77,711,677 (GRCm39) |
P676L |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,944 (GRCm39) |
S267P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,046 (GRCm39) |
M426T |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,737,123 (GRCm39) |
V891A |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,967,475 (GRCm39) |
N956S |
probably benign |
Het |
| Ppil3 |
T |
C |
1: 58,483,750 (GRCm39) |
M1V |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,286 (GRCm39) |
S238T |
possibly damaging |
Het |
| Shc3 |
A |
C |
13: 51,670,595 (GRCm39) |
S51A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,409,992 (GRCm39) |
|
probably null |
Het |
| Smg5 |
A |
G |
3: 88,256,552 (GRCm39) |
K273E |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,653,424 (GRCm39) |
|
probably null |
Het |
| Sstr4 |
T |
C |
2: 148,237,800 (GRCm39) |
L137P |
probably damaging |
Het |
| Taar8b |
C |
T |
10: 23,967,493 (GRCm39) |
V234I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,621 (GRCm39) |
Y860C |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,527,323 (GRCm39) |
S399R |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,807 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,562,695 (GRCm39) |
|
probably null |
Het |
| Usp43 |
T |
C |
11: 67,746,764 (GRCm39) |
D981G |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,543 (GRCm39) |
C554S |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,136 (GRCm39) |
Y464N |
probably damaging |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,847 (GRCm39) |
K575E |
probably damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,771,610 (GRCm39) |
C697Y |
probably damaging |
Het |
| Zcchc8 |
A |
C |
5: 123,858,782 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation