Incidental Mutation 'R4224:Trim37'
ID |
319972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim37
|
Ensembl Gene |
ENSMUSG00000018548 |
Gene Name |
tripartite motif-containing 37 |
Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
MMRRC Submission |
041044-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4224 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87107289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 907
(C907S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
|
AlphaFold |
Q6PCX9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041282
AA Change: C907S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049057 Gene: ENSMUSG00000018548 AA Change: C907S
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 |
unknown
Transcript: ENSMUST00000154138
AA Change: C309S
|
SMART Domains |
Protein: ENSMUSP00000118260 Gene: ENSMUSG00000018548 AA Change: C309S
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 |
0.2995 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
95% (42/44) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330182O14Rik |
T |
C |
15: 40,005,672 (GRCm39) |
|
probably null |
Het |
Abl2 |
A |
G |
1: 156,461,417 (GRCm39) |
T440A |
probably damaging |
Het |
Acat2 |
T |
C |
17: 13,181,772 (GRCm39) |
|
probably benign |
Het |
Acsbg1 |
C |
T |
9: 54,523,325 (GRCm39) |
R434H |
possibly damaging |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Atosa |
T |
A |
9: 74,916,008 (GRCm39) |
N209K |
probably damaging |
Het |
Atp6v1a |
C |
A |
16: 43,922,174 (GRCm39) |
A355S |
probably damaging |
Het |
Corin |
T |
C |
5: 72,500,451 (GRCm39) |
E391G |
probably damaging |
Het |
Dnah11 |
T |
G |
12: 118,094,627 (GRCm39) |
S814R |
probably benign |
Het |
Fer1l4 |
A |
C |
2: 155,862,309 (GRCm39) |
V1788G |
probably benign |
Het |
Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
Ica1 |
T |
C |
6: 8,659,960 (GRCm39) |
K112R |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,326,232 (GRCm39) |
V1334A |
probably damaging |
Het |
Khdc3 |
C |
G |
9: 73,010,153 (GRCm39) |
H70D |
possibly damaging |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Mettl21a |
G |
T |
1: 64,647,115 (GRCm39) |
Y147* |
probably null |
Het |
Mr1 |
A |
T |
1: 155,006,465 (GRCm39) |
I294N |
possibly damaging |
Het |
Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
Or7e170 |
T |
A |
9: 19,794,896 (GRCm39) |
Y235F |
probably benign |
Het |
Pals1 |
A |
G |
12: 78,876,492 (GRCm39) |
K479E |
probably damaging |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
Polr1has |
T |
C |
17: 37,269,617 (GRCm39) |
|
probably benign |
Het |
Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,327,649 (GRCm39) |
R1879* |
probably null |
Het |
Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
Tnnt1 |
T |
C |
7: 4,513,006 (GRCm39) |
H92R |
probably damaging |
Het |
Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
Tssk3 |
T |
C |
4: 129,384,392 (GRCm39) |
D3G |
probably benign |
Het |
Ubash3a |
T |
C |
17: 31,456,902 (GRCm39) |
Y521H |
probably damaging |
Het |
Vmn1r73 |
T |
C |
7: 11,490,506 (GRCm39) |
I108T |
probably damaging |
Het |
Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,876,565 (GRCm39) |
T2799A |
probably damaging |
Het |
Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
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 |
|
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'- GCCCAGTTCTAATTAAAGAGCAC -3'
(R):5'- TGCCACGTTGTCTACCACAG -3'
Sequencing Primer
(F):5'- CATCCGTGGATTCTCATC -3'
(R):5'- GAATGGTCCCTCACAAATAACAG -3'
|
Posted On |
2015-06-12 |