Incidental Mutation 'R7968:Trim37'
| ID |
650472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim37
|
| Ensembl Gene |
ENSMUSG00000018548 |
| Gene Name |
tripartite motif-containing 37 |
| Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
| MMRRC Submission |
046011-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7968 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87040179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 225
(V225A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
[ENSMUST00000139532]
|
| AlphaFold |
Q6PCX9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041282
AA Change: V225A
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: V225A
| 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 benign
Transcript: ENSMUST00000139532
|
| SMART Domains |
Protein: ENSMUSP00000119269
Gene: ENSMUSG00000018548
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
75 |
117 |
7.32e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,922,441 (GRCm39) |
T35A |
|
Het |
| Adamts16 |
A |
C |
13: 70,886,701 (GRCm39) |
S1030A |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Aff4 |
C |
T |
11: 53,300,175 (GRCm39) |
T1026I |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,243,145 (GRCm39) |
Y1065C |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 27,108,070 (GRCm39) |
D192Y |
probably damaging |
Het |
| Arhgef3 |
G |
A |
14: 27,116,062 (GRCm39) |
R268Q |
probably damaging |
Het |
| Atp6v0e |
T |
A |
17: 26,913,885 (GRCm39) |
|
probably null |
Het |
| B3galt9 |
A |
G |
2: 34,728,257 (GRCm39) |
N19D |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,181,551 (GRCm39) |
Y605H |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,226,048 (GRCm39) |
V332A |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,091,118 (GRCm39) |
H219R |
|
Het |
| Csnk1g3 |
C |
T |
18: 54,028,726 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,116 (GRCm39) |
V263A |
possibly damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Entrep1 |
G |
T |
19: 23,962,091 (GRCm39) |
T304K |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gstm4 |
A |
T |
3: 107,951,677 (GRCm39) |
M35K |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,460 (GRCm39) |
Y347C |
possibly damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,566,444 (GRCm39) |
T829M |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,400,898 (GRCm39) |
V682A |
probably benign |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kera |
A |
G |
10: 97,444,821 (GRCm39) |
E60G |
possibly damaging |
Het |
| Letm2 |
C |
T |
8: 26,083,766 (GRCm39) |
G155D |
probably damaging |
Het |
| Lrfn4 |
G |
A |
19: 4,663,343 (GRCm39) |
A397V |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,324,424 (GRCm39) |
Q1253R |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,315,287 (GRCm39) |
M145K |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,529,295 (GRCm39) |
C201R |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,762,493 (GRCm39) |
E710G |
probably benign |
Het |
| Oas2 |
A |
G |
5: 120,876,437 (GRCm39) |
V502A |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,154 (GRCm39) |
S137G |
probably benign |
Het |
| Or52d3 |
T |
A |
7: 104,229,595 (GRCm39) |
C247* |
probably null |
Het |
| Or52h7 |
A |
T |
7: 104,213,857 (GRCm39) |
H143L |
probably benign |
Het |
| Parg |
A |
T |
14: 31,936,327 (GRCm39) |
H494L |
possibly damaging |
Het |
| Phf20 |
T |
A |
2: 156,135,464 (GRCm39) |
D600E |
probably benign |
Het |
| Ppef2 |
G |
A |
5: 92,397,022 (GRCm39) |
R118C |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,959,675 (GRCm39) |
N57K |
probably damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,832,081 (GRCm39) |
S29T |
probably damaging |
Het |
| Sema3g |
C |
A |
14: 30,942,605 (GRCm39) |
R69S |
probably damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,528,007 (GRCm39) |
T419A |
probably benign |
Het |
| Smc3 |
T |
C |
19: 53,611,649 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
C |
T |
1: 8,535,760 (GRCm39) |
W288* |
probably null |
Het |
| Synpo2l |
G |
T |
14: 20,716,870 (GRCm39) |
|
probably null |
Het |
| Tap1 |
A |
G |
17: 34,413,886 (GRCm39) |
I634V |
probably damaging |
Het |
| Tmem25 |
A |
G |
9: 44,706,983 (GRCm39) |
S278P |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,428 (GRCm39) |
S871P |
probably benign |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
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 |
|
|
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 |
|
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 |
|
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'- AATGGAGTTCTGTTCAGTTGCC -3'
(R):5'- AGCCACAGTATGAGATGCTACC -3'
Sequencing Primer
(F):5'- CCGTGGTTCTCTTGTACAGCG -3'
(R):5'- ACTATGAGTCCTAGGATGGCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation