Incidental Mutation 'R5417:Trim37'
| ID |
427795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim37
|
| Ensembl Gene |
ENSMUSG00000018548 |
| Gene Name |
tripartite motif-containing 37 |
| Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5417 (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 87057505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 313
(Y313C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
|
| AlphaFold |
Q6PCX9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041282
AA Change: Y313C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: Y313C
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
G |
15: 76,619,301 (GRCm39) |
V761A |
possibly damaging |
Het |
| Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,964,259 (GRCm39) |
E563G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Col17a1 |
C |
A |
19: 47,650,829 (GRCm39) |
G732C |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,579 (GRCm39) |
I812V |
probably null |
Het |
| Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
| Dgkg |
A |
T |
16: 22,407,081 (GRCm39) |
M168K |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dolpp1 |
T |
C |
2: 30,286,249 (GRCm39) |
L18P |
probably damaging |
Het |
| Eif3e |
A |
T |
15: 43,128,917 (GRCm39) |
D234E |
probably benign |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,767,990 (GRCm39) |
R942Q |
possibly damaging |
Het |
| Flvcr2 |
T |
G |
12: 85,793,965 (GRCm39) |
F114V |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,011,796 (GRCm39) |
C217S |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,459,746 (GRCm39) |
V83E |
possibly damaging |
Het |
| Gpsm1 |
T |
C |
2: 26,214,045 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,582,544 (GRCm39) |
F134S |
probably benign |
Het |
| Ibsp |
G |
A |
5: 104,458,335 (GRCm39) |
E291K |
possibly damaging |
Het |
| Igfals |
T |
G |
17: 25,099,290 (GRCm39) |
L127R |
probably damaging |
Het |
| Igsf9b |
CGGCCCCGGCCCAG |
CGGCCCCGGCCCAGGCCCCGGCCCAG |
9: 27,245,572 (GRCm39) |
|
probably benign |
Het |
| Iqcf3 |
T |
A |
9: 106,431,413 (GRCm39) |
D63V |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,942,957 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mapk8ip2 |
C |
A |
15: 89,341,642 (GRCm39) |
D284E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,781 (GRCm39) |
T1576S |
unknown |
Het |
| Nlrp3 |
G |
A |
11: 59,439,889 (GRCm39) |
G489S |
probably damaging |
Het |
| Nr5a1 |
T |
A |
2: 38,598,098 (GRCm39) |
Q233L |
possibly damaging |
Het |
| Nusap1 |
G |
A |
2: 119,477,624 (GRCm39) |
V345I |
probably damaging |
Het |
| Or10q1 |
A |
G |
19: 13,727,217 (GRCm39) |
H249R |
probably benign |
Het |
| Or4k51 |
A |
G |
2: 111,585,265 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,970 (GRCm39) |
V157E |
possibly damaging |
Het |
| Oxr1 |
A |
G |
15: 41,683,767 (GRCm39) |
T378A |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,569,087 (GRCm39) |
F78L |
probably benign |
Het |
| Pgm2l1 |
A |
T |
7: 99,921,583 (GRCm39) |
I605L |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,682,669 (GRCm39) |
I17V |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,539,209 (GRCm39) |
S150G |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
A |
9: 75,576,538 (GRCm39) |
Y279F |
probably benign |
Het |
| Skic2 |
C |
T |
17: 35,065,574 (GRCm39) |
V327I |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,697 (GRCm39) |
C253R |
probably benign |
Het |
| Tcirg1 |
C |
T |
19: 3,953,509 (GRCm39) |
|
probably null |
Het |
| Ttll9 |
A |
T |
2: 152,844,912 (GRCm39) |
M427L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
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 |
|
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'- AGAAACTTTCTGTTGTTCAGTCTTT -3'
(R):5'- CCCTATAAAGCAGAAATACATTTCATG -3'
Sequencing Primer
(F):5'- TGCTTGTTGCCATTTCATA -3'
(R):5'- GCACTGTTTTTCACAAATTGAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation