Incidental Mutation 'IGL01372:Trim37'
ID |
76198 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01372
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87075772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 459
(H459Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
|
AlphaFold |
Q6PCX9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041282
AA Change: H459Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000049057 Gene: ENSMUSG00000018548 AA Change: H459Q
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 |
noncoding transcript
Transcript: ENSMUST00000152637
|
Coding Region Coverage |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
A |
10: 79,842,089 (GRCm39) |
D1049N |
probably benign |
Het |
Ankdd1a |
A |
T |
9: 65,411,421 (GRCm39) |
L362Q |
probably damaging |
Het |
Ankib1 |
A |
T |
5: 3,822,594 (GRCm39) |
N37K |
probably damaging |
Het |
Ankrd55 |
T |
A |
13: 112,459,677 (GRCm39) |
D90E |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,106,510 (GRCm39) |
R831G |
probably damaging |
Het |
Bcar3 |
A |
G |
3: 122,316,943 (GRCm39) |
D638G |
probably damaging |
Het |
Cabp4 |
T |
A |
19: 4,189,322 (GRCm39) |
E78D |
probably benign |
Het |
Cmtm8 |
A |
G |
9: 114,619,755 (GRCm39) |
V130A |
possibly damaging |
Het |
Cyth3 |
A |
G |
5: 143,678,393 (GRCm39) |
T66A |
possibly damaging |
Het |
Dmbt1 |
A |
T |
7: 130,705,409 (GRCm39) |
I1171F |
possibly damaging |
Het |
Dnah10 |
G |
A |
5: 124,856,218 (GRCm39) |
G2060D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,156,134 (GRCm39) |
H172R |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,230,636 (GRCm39) |
A178V |
probably benign |
Het |
Efcab6 |
T |
G |
15: 83,928,505 (GRCm39) |
M30L |
possibly damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,765,817 (GRCm39) |
|
probably benign |
Het |
Eps15 |
G |
A |
4: 109,179,303 (GRCm39) |
E230K |
probably damaging |
Het |
Fam91a1 |
A |
G |
15: 58,301,911 (GRCm39) |
I258M |
probably damaging |
Het |
Gm5581 |
G |
A |
6: 131,145,366 (GRCm39) |
|
noncoding transcript |
Het |
Hrh1 |
G |
A |
6: 114,456,958 (GRCm39) |
V80I |
probably damaging |
Het |
Ldhd |
G |
A |
8: 112,355,032 (GRCm39) |
H290Y |
probably benign |
Het |
Lepr |
G |
A |
4: 101,592,774 (GRCm39) |
E130K |
possibly damaging |
Het |
Mycbpap |
T |
C |
11: 94,397,282 (GRCm39) |
I40V |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,317,534 (GRCm39) |
|
probably null |
Het |
Opn5 |
T |
A |
17: 42,891,435 (GRCm39) |
|
probably null |
Het |
Or1j14 |
T |
A |
2: 36,417,463 (GRCm39) |
I13N |
probably benign |
Het |
Or5ac24 |
A |
G |
16: 59,165,524 (GRCm39) |
I180T |
probably damaging |
Het |
Otop3 |
A |
T |
11: 115,235,930 (GRCm39) |
T521S |
possibly damaging |
Het |
Pcsk5 |
T |
G |
19: 17,595,108 (GRCm39) |
T409P |
probably damaging |
Het |
Pde9a |
T |
A |
17: 31,680,685 (GRCm39) |
F322Y |
probably benign |
Het |
Pgm5 |
T |
A |
19: 24,710,985 (GRCm39) |
I406F |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,113,942 (GRCm39) |
S1998P |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,102,433 (GRCm39) |
Y2531H |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,445,923 (GRCm39) |
V932A |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,559,437 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
T |
A |
1: 153,701,887 (GRCm39) |
Y224F |
probably damaging |
Het |
Rps6kl1 |
A |
T |
12: 85,193,663 (GRCm39) |
C143S |
probably damaging |
Het |
S100a7l2 |
A |
G |
3: 90,995,616 (GRCm39) |
|
probably benign |
Het |
Slc5a5 |
G |
A |
8: 71,343,020 (GRCm39) |
|
probably benign |
Het |
Tfb2m |
A |
G |
1: 179,369,878 (GRCm39) |
S182P |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,261,746 (GRCm39) |
H608R |
probably damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,270,022 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,344,334 (GRCm39) |
S2192P |
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 |
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 |
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 |
|
|
Posted On |
2013-10-07 |