Incidental Mutation 'R0760:Trim44'
| ID |
70032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim44
|
| Ensembl Gene |
ENSMUSG00000027189 |
| Gene Name |
tripartite motif-containing 44 |
| Synonyms |
DIPB, Mc7 |
| MMRRC Submission |
038940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R0760 (G1)
|
| Quality Score |
110 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
102130464-102231541 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 102230905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102573]
[ENSMUST00000144110]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000102573
AA Change: R42H
|
| SMART Domains |
Protein: ENSMUSP00000099633
Gene: ENSMUSG00000027189
AA Change: R42H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
57 |
2e-11 |
BLAST |
|
coiled coil region
|
125 |
153 |
N/A |
INTRINSIC |
|
BBOX
|
175 |
216 |
1.48e-7 |
SMART |
|
coiled coil region
|
295 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144110
|
| SMART Domains |
Protein: ENSMUSP00000119847
Gene: ENSMUSG00000027189
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152929
|
| SMART Domains |
Protein: ENSMUSP00000116958
Gene: ENSMUSG00000027189
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
BBOX
|
33 |
74 |
1.48e-7 |
SMART |
|
coiled coil region
|
126 |
157 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1607 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.8%
|
| Validation Efficiency |
95% (39/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,324,661 (GRCm39) |
V120A |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,116,035 (GRCm39) |
V180M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,402,118 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
C |
2: 152,914,104 (GRCm39) |
N298T |
probably damaging |
Het |
| Ccni |
A |
G |
5: 93,331,188 (GRCm39) |
V261A |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyb5d1 |
A |
G |
11: 69,285,999 (GRCm39) |
F41L |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,203,966 (GRCm39) |
|
probably null |
Het |
| Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,216,119 (GRCm39) |
I33T |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,853,983 (GRCm39) |
S512T |
probably damaging |
Het |
| Gtpbp1 |
G |
A |
15: 79,603,356 (GRCm39) |
G140E |
probably damaging |
Het |
| Hspa4l |
T |
A |
3: 40,739,155 (GRCm39) |
L681* |
probably null |
Het |
| Hspg2 |
A |
G |
4: 137,239,660 (GRCm39) |
T456A |
probably damaging |
Het |
| Igkv3-1 |
A |
T |
6: 70,681,119 (GRCm39) |
D106V |
probably damaging |
Het |
| Inhbc |
C |
T |
10: 127,193,237 (GRCm39) |
G260S |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
| Kif5c |
T |
C |
2: 49,578,765 (GRCm39) |
I131T |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,558,315 (GRCm39) |
Y1133H |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,920,429 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
G |
8: 87,573,540 (GRCm39) |
Y744H |
probably damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,005 (GRCm39) |
Q183* |
probably null |
Het |
| Or1n2 |
A |
G |
2: 36,797,233 (GRCm39) |
S92G |
probably benign |
Het |
| Ovol2 |
A |
G |
2: 144,173,679 (GRCm39) |
|
probably null |
Het |
| Pappa2 |
C |
A |
1: 158,544,531 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,335,005 (GRCm39) |
E440K |
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,161,775 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,915,802 (GRCm39) |
N937S |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,642,722 (GRCm39) |
F541L |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,596,805 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,312,613 (GRCm39) |
P1111L |
possibly damaging |
Het |
| Rasal3 |
A |
G |
17: 32,611,146 (GRCm39) |
F929S |
probably benign |
Het |
| Rnf111 |
A |
G |
9: 70,336,960 (GRCm39) |
V909A |
probably damaging |
Het |
| Rnf168 |
A |
G |
16: 32,117,204 (GRCm39) |
|
probably null |
Het |
| Slc2a5 |
T |
C |
4: 150,224,124 (GRCm39) |
L244P |
probably benign |
Het |
| Snta1 |
T |
A |
2: 154,222,860 (GRCm39) |
I288F |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,498 (GRCm39) |
C297Y |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,200,805 (GRCm39) |
I1164N |
possibly damaging |
Het |
|
| Other mutations in Trim44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Trim44
|
APN |
2 |
102,134,824 (GRCm39) |
makesense |
probably null |
|
|
IGL01328:Trim44
|
APN |
2 |
102,230,365 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01925:Trim44
|
APN |
2 |
102,230,362 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02033:Trim44
|
APN |
2 |
102,230,521 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02138:Trim44
|
APN |
2 |
102,211,253 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02824:Trim44
|
APN |
2 |
102,230,540 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1695:Trim44
|
UTSW |
2 |
102,187,830 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2008:Trim44
|
UTSW |
2 |
102,230,722 (GRCm39) |
unclassified |
probably benign |
|
|
R5366:Trim44
|
UTSW |
2 |
102,230,476 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7253:Trim44
|
UTSW |
2 |
102,177,313 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7812:Trim44
|
UTSW |
2 |
102,230,489 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8129:Trim44
|
UTSW |
2 |
102,230,848 (GRCm39) |
missense |
unknown |
|
|
R8387:Trim44
|
UTSW |
2 |
102,230,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Trim44
|
UTSW |
2 |
102,230,521 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9469:Trim44
|
UTSW |
2 |
102,230,651 (GRCm39) |
missense |
unknown |
|
|
R9470:Trim44
|
UTSW |
2 |
102,230,651 (GRCm39) |
missense |
unknown |
|
|
R9471:Trim44
|
UTSW |
2 |
102,230,651 (GRCm39) |
missense |
unknown |
|
|
R9562:Trim44
|
UTSW |
2 |
102,187,827 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9565:Trim44
|
UTSW |
2 |
102,187,827 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9711:Trim44
|
UTSW |
2 |
102,230,813 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGATGAGCTGCCTATCTTCCTGAC -3'
(R):5'- GAGAGCACGCCAGCCGCTA -3'
Sequencing Primer
(F):5'- gtcactctcatcctcactgtc -3'
(R):5'- TGTGACGAGTGCGAACC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation