Incidental Mutation 'R7734:Trim37'
ID |
596076 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim37
|
Ensembl Gene |
ENSMUSG00000018548 |
Gene Name |
tripartite motif-containing 37 |
Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
MMRRC Submission |
045790-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7734 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87068821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 389
(Y389C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
|
AlphaFold |
Q6PCX9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041282
AA Change: Y389C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049057 Gene: ENSMUSG00000018548 AA Change: Y389C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa2 |
T |
C |
9: 69,398,764 (GRCm39) |
Y333H |
probably benign |
Het |
Arid1a |
A |
T |
4: 133,408,679 (GRCm39) |
F1558I |
unknown |
Het |
Aste1 |
A |
G |
9: 105,274,678 (GRCm39) |
D306G |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,596,590 (GRCm39) |
V843A |
possibly damaging |
Het |
Atrip |
T |
A |
9: 108,894,574 (GRCm39) |
H451L |
probably benign |
Het |
Cdc42bpb |
T |
C |
12: 111,295,664 (GRCm39) |
D200G |
probably damaging |
Het |
Ceacam19 |
A |
C |
7: 19,620,520 (GRCm39) |
M37R |
probably benign |
Het |
Cemip |
G |
A |
7: 83,606,872 (GRCm39) |
R782* |
probably null |
Het |
Cpe |
A |
T |
8: 65,070,654 (GRCm39) |
I197N |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,445,850 (GRCm39) |
P3307T |
|
Het |
Cyp4a12b |
C |
A |
4: 115,268,937 (GRCm39) |
Q20K |
possibly damaging |
Het |
Dcaf1 |
T |
C |
9: 106,715,878 (GRCm39) |
Y332H |
probably damaging |
Het |
Dclk3 |
A |
G |
9: 111,298,163 (GRCm39) |
H569R |
probably damaging |
Het |
Dcp1b |
A |
G |
6: 119,192,244 (GRCm39) |
S387G |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,819 (GRCm39) |
M590T |
possibly damaging |
Het |
Dixdc1 |
T |
G |
9: 50,613,268 (GRCm39) |
Q229P |
probably damaging |
Het |
Dnase1l3 |
T |
C |
14: 7,977,144 (GRCm38) |
R181G |
probably benign |
Het |
Dzip1l |
A |
T |
9: 99,549,735 (GRCm39) |
D735V |
probably damaging |
Het |
Edem3 |
T |
C |
1: 151,694,336 (GRCm39) |
S890P |
probably benign |
Het |
Fuom |
A |
G |
7: 139,679,455 (GRCm39) |
L155P |
unknown |
Het |
Gm6408 |
C |
A |
5: 146,421,160 (GRCm39) |
S263* |
probably null |
Het |
Helz |
C |
G |
11: 107,576,248 (GRCm39) |
S1814R |
unknown |
Het |
Hrc |
T |
C |
7: 44,986,100 (GRCm39) |
L417P |
probably benign |
Het |
Igdcc4 |
A |
C |
9: 65,039,035 (GRCm39) |
H894P |
probably damaging |
Het |
Lgr6 |
C |
A |
1: 134,930,981 (GRCm39) |
V296L |
probably damaging |
Het |
Map3k4 |
T |
A |
17: 12,482,998 (GRCm39) |
Y573F |
probably damaging |
Het |
Mest |
T |
C |
6: 30,746,299 (GRCm39) |
Y296H |
unknown |
Het |
Mettl21a |
C |
T |
1: 64,647,288 (GRCm39) |
V90M |
probably damaging |
Het |
Mfsd4b1 |
A |
T |
10: 39,883,374 (GRCm39) |
N25K |
probably damaging |
Het |
Mmd |
T |
A |
11: 90,167,579 (GRCm39) |
F203I |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,401,108 (GRCm39) |
V3028M |
probably benign |
Het |
Nlrp1a |
T |
A |
11: 70,998,826 (GRCm39) |
N859I |
unknown |
Het |
Nrcam |
T |
C |
12: 44,584,034 (GRCm39) |
L36P |
possibly damaging |
Het |
Nup107 |
C |
A |
10: 117,593,917 (GRCm39) |
E759* |
probably null |
Het |
Or14a259 |
A |
G |
7: 86,013,476 (GRCm39) |
I23T |
not run |
Het |
Pcdh7 |
T |
G |
5: 57,876,976 (GRCm39) |
I177S |
probably damaging |
Het |
Pde6a |
T |
C |
18: 61,365,938 (GRCm39) |
I221T |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,709,828 (GRCm39) |
N1497I |
probably damaging |
Het |
Rmc1 |
T |
A |
18: 12,322,320 (GRCm39) |
I591N |
possibly damaging |
Het |
Rpl4 |
T |
A |
9: 64,084,661 (GRCm39) |
H245Q |
probably benign |
Het |
Rsf1 |
C |
CCACGGCGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scara5 |
A |
G |
14: 65,968,600 (GRCm39) |
D291G |
possibly damaging |
Het |
Septin14 |
T |
A |
5: 129,760,583 (GRCm39) |
I422L |
probably benign |
Het |
Serpina1e |
T |
C |
12: 103,917,151 (GRCm39) |
K173E |
probably benign |
Het |
Slc5a1 |
C |
T |
5: 33,318,279 (GRCm39) |
T644I |
probably benign |
Het |
Slc6a13 |
A |
T |
6: 121,314,334 (GRCm39) |
T590S |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,578,658 (GRCm39) |
T938I |
possibly damaging |
Het |
Stxbp1 |
A |
T |
2: 32,691,832 (GRCm39) |
D453E |
probably benign |
Het |
Tcf12 |
C |
A |
9: 71,829,943 (GRCm39) |
V173L |
probably benign |
Het |
Tenm3 |
A |
G |
8: 49,099,368 (GRCm39) |
C146R |
probably damaging |
Het |
Trim11 |
T |
C |
11: 58,869,180 (GRCm39) |
C39R |
probably damaging |
Het |
Ttll8 |
C |
T |
15: 88,798,368 (GRCm39) |
G789D |
probably damaging |
Het |
Tubb2a |
C |
T |
13: 34,258,776 (GRCm39) |
S338N |
probably benign |
Het |
Ulk2 |
G |
A |
11: 61,744,127 (GRCm39) |
Q50* |
probably null |
Het |
Urgcp |
T |
C |
11: 5,666,406 (GRCm39) |
D687G |
probably benign |
Het |
Usp13 |
C |
T |
3: 32,892,054 (GRCm39) |
H78Y |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
Vwc2 |
G |
A |
11: 11,065,929 (GRCm39) |
A6T |
possibly 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 |
|
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 |
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'- ATGATATGTTTTGAACAGAGTTCCG -3'
(R):5'- TGTTGGTACAGAGCATCCCTC -3'
Sequencing Primer
(F):5'- GTTTTGAACAGAGTTCCGTTATTTTC -3'
(R):5'- GTAGACCTGGCTATTCTGGAATTCAC -3'
|
Posted On |
2019-11-12 |