Incidental Mutation 'R0946:Trim37'
ID |
82118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim37
|
Ensembl Gene |
ENSMUSG00000018548 |
Gene Name |
tripartite motif-containing 37 |
Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
MMRRC Submission |
039085-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0946 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87037781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 172
(R172G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
[ENSMUST00000139532]
|
AlphaFold |
Q6PCX9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041282
AA Change: R172G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049057 Gene: ENSMUSG00000018548 AA Change: R172G
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 damaging
Transcript: ENSMUST00000139532
AA Change: R157G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119269 Gene: ENSMUSG00000018548 AA Change: R157G
Domain | Start | End | E-Value | Type |
BBOX
|
75 |
117 |
7.32e-12 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230112D13Rik |
A |
G |
14: 34,234,099 (GRCm39) |
M64T |
unknown |
Het |
Adamts15 |
C |
T |
9: 30,813,493 (GRCm39) |
G891R |
probably damaging |
Het |
Adck5 |
G |
A |
15: 76,477,486 (GRCm39) |
V107I |
possibly damaging |
Het |
Aoc3 |
G |
A |
11: 101,223,131 (GRCm39) |
V456M |
possibly damaging |
Het |
Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,654,442 (GRCm39) |
H693R |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,406,509 (GRCm39) |
T414A |
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
Coasy |
G |
T |
11: 100,976,696 (GRCm39) |
V489F |
probably damaging |
Het |
Ercc6 |
A |
T |
14: 32,274,578 (GRCm39) |
M574L |
probably benign |
Het |
Esrrb |
T |
C |
12: 86,552,598 (GRCm39) |
L180P |
probably damaging |
Het |
Fam83b |
A |
T |
9: 76,398,679 (GRCm39) |
V808D |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,909,100 (GRCm39) |
V2301I |
possibly damaging |
Het |
Ftdc1 |
C |
A |
16: 58,435,075 (GRCm39) |
R83S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,755,912 (GRCm39) |
Y43* |
probably null |
Het |
Hydin |
C |
A |
8: 111,257,685 (GRCm39) |
L2372M |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,459,809 (GRCm39) |
V145A |
probably benign |
Het |
Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
Muc21 |
A |
C |
17: 35,929,105 (GRCm39) |
S1581A |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,142,577 (GRCm39) |
I913V |
possibly damaging |
Het |
Nat10 |
C |
T |
2: 103,561,719 (GRCm39) |
G654D |
probably damaging |
Het |
Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
Nup50l |
A |
T |
6: 96,142,677 (GRCm39) |
N122K |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,907,128 (GRCm39) |
Y503C |
unknown |
Het |
Or11g7 |
C |
A |
14: 50,691,130 (GRCm39) |
T207K |
probably benign |
Het |
Pappa |
G |
T |
4: 65,233,029 (GRCm39) |
|
probably null |
Het |
Pfas |
A |
G |
11: 68,884,121 (GRCm39) |
|
probably null |
Het |
Pfas |
G |
T |
11: 68,881,573 (GRCm39) |
|
probably null |
Het |
Pign |
A |
T |
1: 105,519,422 (GRCm39) |
M500K |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,269,605 (GRCm39) |
K3313R |
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,396,047 (GRCm39) |
V807A |
probably benign |
Het |
Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
Rfpl4b |
A |
T |
10: 38,696,833 (GRCm39) |
I256N |
probably benign |
Het |
Skap1 |
C |
G |
11: 96,432,295 (GRCm39) |
S88* |
probably null |
Het |
Slc4a2 |
T |
C |
5: 24,640,884 (GRCm39) |
S742P |
probably damaging |
Het |
Supv3l1 |
T |
C |
10: 62,265,599 (GRCm39) |
D647G |
probably damaging |
Het |
Tmem184c |
A |
C |
8: 78,331,386 (GRCm39) |
V121G |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,507,421 (GRCm39) |
I118V |
probably benign |
Het |
Top1 |
T |
A |
2: 160,554,588 (GRCm39) |
Y446* |
probably null |
Het |
Vgll4 |
C |
A |
6: 114,867,768 (GRCm39) |
|
probably null |
Het |
Vgll4 |
T |
A |
6: 114,867,769 (GRCm39) |
|
probably null |
Het |
Vmn1r5 |
T |
G |
6: 56,963,150 (GRCm39) |
I275S |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,187,874 (GRCm39) |
H584Q |
probably damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp282 |
T |
A |
6: 47,856,943 (GRCm39) |
W59R |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,754,103 (GRCm39) |
T186S |
probably benign |
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 |
|
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 |
|
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'- GGCTTGTGCTATCAGTGAGTGAACTATT -3'
(R):5'- AGCCAGACTTGTGGTCAGATTAAACAAC -3'
Sequencing Primer
(F):5'- tggcaaacatctttcaccttac -3'
(R):5'- TGTGGTCAGATTAAACAACATAGAG -3'
|
Posted On |
2013-11-08 |