Incidental Mutation 'R4049:Trim37'
| ID |
314055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim37
|
| Ensembl Gene |
ENSMUSG00000018548 |
| Gene Name |
tripartite motif-containing 37 |
| Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
| MMRRC Submission |
041616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 87031429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
[ENSMUST00000139532]
|
| AlphaFold |
Q6PCX9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041282
|
| SMART Domains |
Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
| 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: ENSMUST00000139532
|
| SMART Domains |
Protein: ENSMUSP00000119269
Gene: ENSMUSG00000018548
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
75 |
117 |
7.32e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.9753 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,832,404 (GRCm39) |
E1190V |
probably damaging |
Het |
| Arhgef10 |
A |
G |
8: 15,029,998 (GRCm39) |
T928A |
probably benign |
Het |
| Arhgef10l |
T |
A |
4: 140,242,762 (GRCm39) |
I836F |
probably benign |
Het |
| Blm |
T |
A |
7: 80,152,610 (GRCm39) |
T446S |
probably benign |
Het |
| Ccdc63 |
T |
A |
5: 122,260,813 (GRCm39) |
Q237L |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,904 (GRCm39) |
D137G |
probably damaging |
Het |
| Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
| Clstn2 |
T |
G |
9: 97,339,613 (GRCm39) |
E786A |
possibly damaging |
Het |
| Col16a1 |
C |
T |
4: 129,962,545 (GRCm39) |
P540L |
probably damaging |
Het |
| Csf2 |
A |
G |
11: 54,140,159 (GRCm39) |
F61L |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,654,750 (GRCm39) |
R1094C |
unknown |
Het |
| Cyp3a41a |
A |
G |
5: 145,650,350 (GRCm39) |
C98R |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,984,508 (GRCm39) |
C404* |
probably null |
Het |
| Egfem1 |
A |
C |
3: 29,740,880 (GRCm39) |
H518P |
probably benign |
Het |
| Elf3 |
T |
C |
1: 135,182,015 (GRCm39) |
S369G |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,788,577 (GRCm39) |
V503M |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,444,240 (GRCm39) |
D105G |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,966,428 (GRCm39) |
L250P |
probably damaging |
Het |
| Gdf15 |
A |
T |
8: 71,082,605 (GRCm39) |
M167K |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
| Herc3 |
A |
G |
6: 58,853,822 (GRCm39) |
I623V |
probably damaging |
Het |
| Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
| Map1lc3a |
G |
T |
2: 155,119,462 (GRCm39) |
V91F |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,913,394 (GRCm39) |
V617A |
probably benign |
Het |
| Mov10l1 |
T |
A |
15: 88,879,235 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,220,494 (GRCm39) |
|
probably null |
Het |
| Nfe2 |
C |
T |
15: 103,159,364 (GRCm39) |
E36K |
possibly damaging |
Het |
| Oprm1 |
G |
A |
10: 6,779,087 (GRCm39) |
V95I |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,498,006 (GRCm39) |
I75V |
probably benign |
Het |
| Or4c107 |
A |
G |
2: 88,789,617 (GRCm39) |
K269R |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,575 (GRCm39) |
F241L |
probably benign |
Het |
| Or5d46 |
T |
C |
2: 88,174,144 (GRCm39) |
|
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,130,995 (GRCm39) |
H21Q |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,520,808 (GRCm39) |
I62F |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,407,053 (GRCm39) |
C435S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,361,953 (GRCm39) |
C542Y |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,529,597 (GRCm39) |
S75P |
probably damaging |
Het |
| Pphln1 |
C |
A |
15: 93,362,987 (GRCm39) |
A202E |
probably damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,223,414 (GRCm39) |
T43A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,592,298 (GRCm39) |
N199S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,757 (GRCm39) |
L199P |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,373,274 (GRCm39) |
M4939L |
possibly damaging |
Het |
| Slc23a2 |
C |
T |
2: 131,902,603 (GRCm39) |
R533Q |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,610,548 (GRCm39) |
|
probably null |
Het |
| Snrpd2 |
T |
A |
7: 18,885,232 (GRCm39) |
V31E |
probably damaging |
Het |
| Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
| Srsf4 |
T |
C |
4: 131,627,854 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,737,630 (GRCm39) |
S1274P |
probably damaging |
Het |
| Tcof1 |
C |
A |
18: 60,965,975 (GRCm39) |
A376S |
possibly damaging |
Het |
| Thsd1 |
T |
A |
8: 22,733,180 (GRCm39) |
Y76N |
possibly damaging |
Het |
| Timm44 |
A |
G |
8: 4,310,561 (GRCm39) |
V397A |
probably benign |
Het |
| Tmc6 |
G |
A |
11: 117,669,087 (GRCm39) |
T89I |
possibly damaging |
Het |
| Trbv31 |
C |
A |
6: 41,534,639 (GRCm39) |
C107F |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 86,059,573 (GRCm39) |
V1226A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,550,931 (GRCm39) |
V865A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,966 (GRCm39) |
M550K |
probably damaging |
Het |
| Vps54 |
C |
A |
11: 21,250,183 (GRCm39) |
T373N |
probably benign |
Het |
| Wdr64 |
T |
G |
1: 175,633,422 (GRCm39) |
I891S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,463,919 (GRCm39) |
S1384L |
probably damaging |
Het |
| Zfp703 |
A |
G |
8: 27,469,113 (GRCm39) |
E259G |
possibly damaging |
Het |
| Zfp933 |
T |
C |
4: 147,910,969 (GRCm39) |
H209R |
probably damaging |
Het |
| Zfp980 |
A |
G |
4: 145,429,170 (GRCm39) |
H633R |
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 |
|
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'- GCCCATGGTATCATTTTGTACAGG -3'
(R):5'- GCATTTACTTTGCATGTGGCC -3'
Sequencing Primer
(F):5'- ACCTTACTGTGTAGACCAGGCTAG -3'
(R):5'- GCATGTGGCCCCAGGATAAATC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation