Incidental Mutation 'R6479:Trim37'
ID |
516990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim37
|
Ensembl Gene |
ENSMUSG00000018548 |
Gene Name |
tripartite motif-containing 37 |
Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
MMRRC Submission |
044611-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6479 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 87107313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 317
(E317*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
|
AlphaFold |
Q6PCX9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041282
AA Change: E915*
|
SMART Domains |
Protein: ENSMUSP00000049057 Gene: ENSMUSG00000018548 AA Change: E915*
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 |
probably null
Transcript: ENSMUST00000154138
AA Change: E317*
|
SMART Domains |
Protein: ENSMUSP00000118260 Gene: ENSMUSG00000018548 AA Change: E317*
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 |
|
Meta Mutation Damage Score |
0.9753 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.0%
|
Validation Efficiency |
95% (55/58) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
A |
C |
8: 25,119,681 (GRCm39) |
S533A |
probably benign |
Het |
Akap6 |
T |
G |
12: 53,187,952 (GRCm39) |
S1789A |
probably damaging |
Het |
Alox15 |
A |
G |
11: 70,236,011 (GRCm39) |
S519P |
probably damaging |
Het |
Anapc2 |
A |
G |
2: 25,175,407 (GRCm39) |
K816E |
probably benign |
Het |
Atp6v1a |
T |
C |
16: 43,919,121 (GRCm39) |
D488G |
probably benign |
Het |
Banp |
A |
G |
8: 122,718,176 (GRCm39) |
|
probably null |
Het |
Camsap1 |
A |
G |
2: 25,825,874 (GRCm39) |
C1367R |
possibly damaging |
Het |
Casz1 |
C |
A |
4: 149,021,535 (GRCm39) |
H539Q |
probably damaging |
Het |
Ccl5 |
A |
G |
11: 83,421,212 (GRCm39) |
Y26H |
probably benign |
Het |
Cops3 |
A |
T |
11: 59,723,898 (GRCm39) |
S86R |
probably benign |
Het |
Cts7 |
A |
G |
13: 61,503,455 (GRCm39) |
S170P |
probably benign |
Het |
Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
Dennd1b |
C |
T |
1: 138,969,698 (GRCm39) |
|
probably benign |
Het |
Dicer1 |
T |
C |
12: 104,662,982 (GRCm39) |
D1533G |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,878,954 (GRCm39) |
E1531G |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,811,612 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
Gm10309 |
A |
T |
17: 86,812,007 (GRCm39) |
M1K |
probably null |
Het |
Gm4884 |
A |
T |
7: 40,690,211 (GRCm39) |
N36Y |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,553,053 (GRCm39) |
R2546* |
probably null |
Het |
Hmcn2 |
A |
G |
2: 31,315,480 (GRCm39) |
D3743G |
probably damaging |
Het |
Hsd3b9 |
T |
A |
3: 98,354,157 (GRCm39) |
E114V |
possibly damaging |
Het |
Irak2 |
A |
T |
6: 113,663,902 (GRCm39) |
N423Y |
probably damaging |
Het |
Jarid2 |
G |
A |
13: 45,001,765 (GRCm39) |
G26D |
probably benign |
Het |
Kif13b |
A |
G |
14: 64,988,974 (GRCm39) |
K785R |
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,777,413 (GRCm39) |
I20F |
probably benign |
Het |
Limk1 |
G |
A |
5: 134,690,373 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
C |
T |
2: 91,317,429 (GRCm39) |
T851I |
probably damaging |
Het |
Med13 |
G |
A |
11: 86,248,353 (GRCm39) |
|
probably benign |
Het |
Megf10 |
T |
C |
18: 57,379,642 (GRCm39) |
F273L |
possibly damaging |
Het |
Meltf |
T |
A |
16: 31,700,700 (GRCm39) |
D73E |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,560,385 (GRCm39) |
F640L |
possibly damaging |
Het |
Mtor |
T |
C |
4: 148,635,457 (GRCm39) |
S2448P |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,467,877 (GRCm39) |
V377A |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,750,086 (GRCm39) |
V183A |
probably damaging |
Het |
Nedd4l |
G |
A |
18: 65,342,752 (GRCm39) |
R755H |
probably damaging |
Het |
Nrde2 |
T |
C |
12: 100,110,207 (GRCm39) |
T275A |
probably benign |
Het |
Or52n4 |
A |
G |
7: 104,294,333 (GRCm39) |
I80T |
probably benign |
Het |
Osgepl1 |
T |
C |
1: 53,360,702 (GRCm39) |
V381A |
probably benign |
Het |
Pcdha1 |
C |
T |
18: 37,064,509 (GRCm39) |
T391I |
probably benign |
Het |
Pdp1 |
T |
C |
4: 11,961,327 (GRCm39) |
N328S |
probably damaging |
Het |
Pepd |
A |
G |
7: 34,740,147 (GRCm39) |
E340G |
probably benign |
Het |
Plch1 |
T |
C |
3: 63,651,931 (GRCm39) |
T387A |
probably benign |
Het |
Plxnb1 |
C |
A |
9: 108,940,733 (GRCm39) |
T1536K |
possibly damaging |
Het |
Rbp7 |
T |
C |
4: 149,534,347 (GRCm39) |
T130A |
probably benign |
Het |
Rhot2 |
A |
T |
17: 26,060,054 (GRCm39) |
V309E |
probably benign |
Het |
Slc37a1 |
A |
G |
17: 31,557,964 (GRCm39) |
I421M |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,389,331 (GRCm39) |
L585H |
probably damaging |
Het |
Spint4 |
C |
A |
2: 164,542,764 (GRCm39) |
A119D |
probably benign |
Het |
Strip2 |
G |
T |
6: 29,944,496 (GRCm39) |
|
probably null |
Het |
Stxbp4 |
T |
C |
11: 90,510,013 (GRCm39) |
Y59C |
probably damaging |
Het |
Syne1 |
G |
A |
10: 5,181,679 (GRCm39) |
Q4219* |
probably null |
Het |
Syne1 |
A |
T |
10: 5,406,826 (GRCm39) |
I37N |
probably damaging |
Het |
Syne4 |
G |
T |
7: 30,016,340 (GRCm39) |
G179* |
probably null |
Het |
Tead1 |
T |
C |
7: 112,460,672 (GRCm39) |
V192A |
probably benign |
Het |
Wdfy3 |
A |
C |
5: 102,061,045 (GRCm39) |
Y1390D |
probably damaging |
Het |
Wdr81 |
A |
G |
11: 75,342,931 (GRCm39) |
F779L |
possibly damaging |
Het |
Zfp1002 |
C |
T |
2: 150,096,511 (GRCm39) |
G306D |
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 |
R3878:Trim37
|
UTSW |
11 |
87,096,828 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
|
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'- ATGCCCAGTTCTAATTAAAGAGCAC -3'
(R):5'- GCCACGTTGTCTACCACAGAATG -3'
Sequencing Primer
(F):5'- CATCCGTGGATTCTCATC -3'
(R):5'- GAATGGTCCCTCACAAATAACAG -3'
|
Posted On |
2018-05-21 |