Incidental Mutation 'R3878:Trim37'
| ID |
276954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim37
|
| Ensembl Gene |
ENSMUSG00000018548 |
| Gene Name |
tripartite motif-containing 37 |
| Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3878 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87096828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 777
(V777A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
|
| AlphaFold |
Q6PCX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041282
AA Change: V777A
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: V777A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
54 |
1.71e-1 |
SMART |
|
BBOX
|
90 |
132 |
7.32e-12 |
SMART |
|
BBC
|
132 |
254 |
3.05e-31 |
SMART |
|
MATH
|
281 |
384 |
1.51e-13 |
SMART |
|
low complexity region
|
494 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
808 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154138
|
| SMART Domains |
Protein: ENSMUSP00000118260
Gene: ENSMUSG00000018548
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is part of the tripartite-motif containing family (TRIM), which is typified by the RING, B-box type 1, B-box type 2, and coiled-coil region domains. In mouse this protein is proposed to oligomerize through its coiled coil domain and has been reported to be expressed in neural crest-derived tissues as well as in tissues whose development is regulated by mesenchymal-epithelial interactions. In humans, mutations in this gene are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder characterized by prenatal onset growth failure, cardiomyopathy and dysmorphic features. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are infertile due to gonadal degeneration and exhibit late-onset weight loss, smaller skull size, non-compaction cardiomyopathy, hepatomegaly, fatty liver, altered glucose metabolism, splenomegaly, and increased tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Gene trapped(7) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
C |
T |
2: 130,247,560 (GRCm39) |
T32M |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,531,324 (GRCm39) |
S915G |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,025,642 (GRCm39) |
|
probably null |
Het |
| Atosb |
T |
G |
4: 43,035,867 (GRCm39) |
H288P |
probably damaging |
Het |
| Cadm2 |
C |
T |
16: 66,612,329 (GRCm39) |
E78K |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,484,506 (GRCm39) |
P416L |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,845 (GRCm39) |
F661S |
probably damaging |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,653,048 (GRCm39) |
I403T |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,620,423 (GRCm39) |
R237G |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,148,150 (GRCm39) |
|
probably null |
Het |
| Frs2 |
A |
C |
10: 116,914,815 (GRCm39) |
S35A |
probably benign |
Het |
| Gpr155 |
C |
T |
2: 73,198,736 (GRCm39) |
W394* |
probably null |
Het |
| Ift140 |
G |
A |
17: 25,247,918 (GRCm39) |
V259M |
probably benign |
Het |
| Igkv9-124 |
A |
T |
6: 67,919,191 (GRCm39) |
S74T |
probably benign |
Het |
| Krt14 |
C |
T |
11: 100,097,915 (GRCm39) |
V123M |
possibly damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,398,063 (GRCm39) |
T457A |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,349,362 (GRCm38) |
|
noncoding transcript |
Het |
| Nsa2 |
C |
G |
13: 97,268,542 (GRCm39) |
G175A |
probably benign |
Het |
| Or8k40 |
T |
C |
2: 86,584,972 (GRCm39) |
T37A |
probably benign |
Het |
| Pax1 |
A |
T |
2: 147,204,228 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,262 (GRCm39) |
E1291G |
probably benign |
Het |
| Relb |
G |
A |
7: 19,351,769 (GRCm39) |
H115Y |
probably damaging |
Het |
| Rnase10 |
A |
G |
14: 51,246,889 (GRCm39) |
E52G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,202,289 (GRCm39) |
V614I |
probably benign |
Het |
| Slc20a2 |
T |
C |
8: 23,058,399 (GRCm39) |
L645P |
possibly damaging |
Het |
| Smoc2 |
A |
G |
17: 14,545,879 (GRCm39) |
D56G |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,247,782 (GRCm39) |
S789P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,030,401 (GRCm39) |
|
probably null |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,152 (GRCm39) |
V169A |
probably damaging |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,322 (GRCm39) |
T86I |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,941,708 (GRCm39) |
D886G |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,259,321 (GRCm39) |
I1003M |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,364 (GRCm39) |
D11856G |
possibly damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,260 (GRCm39) |
D164V |
possibly damaging |
Het |
| Vmn1r34 |
G |
A |
6: 66,614,552 (GRCm39) |
T62I |
possibly damaging |
Het |
| Wapl |
T |
C |
14: 34,414,104 (GRCm39) |
L322P |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,105,960 (GRCm39) |
D17G |
probably damaging |
Het |
|
| Other mutations in Trim37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Trim37
|
APN |
11 |
87,077,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01372:Trim37
|
APN |
11 |
87,075,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01510:Trim37
|
APN |
11 |
87,068,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02055:Trim37
|
APN |
11 |
87,057,475 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02106:Trim37
|
APN |
11 |
87,092,230 (GRCm39) |
nonsense |
probably null |
|
|
IGL02251:Trim37
|
APN |
11 |
87,058,256 (GRCm39) |
splice site |
probably benign |
|
|
IGL02498:Trim37
|
APN |
11 |
87,075,876 (GRCm39) |
missense |
probably benign |
|
|
IGL02836:Trim37
|
APN |
11 |
87,087,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03089:Trim37
|
APN |
11 |
87,080,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03302:Trim37
|
APN |
11 |
87,037,827 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03347:Trim37
|
APN |
11 |
87,092,447 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
G5030:Trim37
|
UTSW |
11 |
87,033,967 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0396:Trim37
|
UTSW |
11 |
87,037,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Trim37
|
UTSW |
11 |
87,036,328 (GRCm39) |
nonsense |
probably null |
|
|
R0946:Trim37
|
UTSW |
11 |
87,037,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1481:Trim37
|
UTSW |
11 |
87,020,585 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Trim37
|
UTSW |
11 |
87,068,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Trim37
|
UTSW |
11 |
87,109,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Trim37
|
UTSW |
11 |
87,050,651 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4049:Trim37
|
UTSW |
11 |
87,031,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4224:Trim37
|
UTSW |
11 |
87,107,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:Trim37
|
UTSW |
11 |
87,087,651 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5244:Trim37
|
UTSW |
11 |
87,109,083 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5343:Trim37
|
UTSW |
11 |
87,028,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5417:Trim37
|
UTSW |
11 |
87,057,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Trim37
|
UTSW |
11 |
87,092,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5911:Trim37
|
UTSW |
11 |
87,087,663 (GRCm39) |
nonsense |
probably null |
|
|
R5957:Trim37
|
UTSW |
11 |
87,036,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6159:Trim37
|
UTSW |
11 |
87,107,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6479:Trim37
|
UTSW |
11 |
87,107,313 (GRCm39) |
nonsense |
probably null |
|
|
R6527:Trim37
|
UTSW |
11 |
87,080,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Trim37
|
UTSW |
11 |
87,058,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7734:Trim37
|
UTSW |
11 |
87,068,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Trim37
|
UTSW |
11 |
87,092,270 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7938:Trim37
|
UTSW |
11 |
87,037,863 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7968:Trim37
|
UTSW |
11 |
87,040,179 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8046:Trim37
|
UTSW |
11 |
87,037,794 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8112:Trim37
|
UTSW |
11 |
87,109,093 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8735:Trim37
|
UTSW |
11 |
87,037,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8770:Trim37
|
UTSW |
11 |
87,050,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Trim37
|
UTSW |
11 |
87,097,629 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9234:Trim37
|
UTSW |
11 |
87,036,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9332:Trim37
|
UTSW |
11 |
87,058,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9346:Trim37
|
UTSW |
11 |
87,057,426 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9431:Trim37
|
UTSW |
11 |
87,077,257 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Trim37
|
UTSW |
11 |
87,075,869 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCCCTGTTGTTTTGAAC -3'
(R):5'- TTTGAGATCAGATACTAGAGCCCG -3'
Sequencing Primer
(F):5'- CCCTGTTGTTTTGAACATTGTAGGC -3'
(R):5'- GTCAGCTTTACCTTCAGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation