Incidental Mutation 'R8112:Trim37'
| ID |
630943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim37
|
| Ensembl Gene |
ENSMUSG00000018548 |
| Gene Name |
tripartite motif-containing 37 |
| Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
| MMRRC Submission |
067541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87109093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 940
(F940S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
|
| AlphaFold |
Q6PCX9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041282
AA Change: F940S
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: F940S
| 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: ENSMUST00000154138
|
| SMART Domains |
Protein: ENSMUSP00000118260
Gene: ENSMUSG00000018548
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 95.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,264,624 (GRCm39) |
V3002A |
probably benign |
Het |
| Aifm3 |
T |
C |
16: 17,320,804 (GRCm39) |
V422A |
probably damaging |
Het |
| Alx3 |
G |
T |
3: 107,512,300 (GRCm39) |
E313* |
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,528,379 (GRCm39) |
V336A |
possibly damaging |
Het |
| Art5 |
A |
T |
7: 101,747,218 (GRCm39) |
V187E |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,721,433 (GRCm39) |
V154A |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,702 (GRCm39) |
D139G |
probably damaging |
Het |
| Cbx5 |
A |
G |
15: 103,108,171 (GRCm39) |
V158A |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,840,779 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
T |
C |
6: 120,739,175 (GRCm39) |
S1301P |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,538,012 (GRCm39) |
S80T |
probably benign |
Het |
| Cyp2g1 |
T |
A |
7: 26,518,886 (GRCm39) |
D427E |
probably benign |
Het |
| Depdc5 |
G |
A |
5: 33,126,050 (GRCm39) |
V1199I |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,841,026 (GRCm39) |
V3643A |
unknown |
Het |
| Ehmt1 |
G |
T |
2: 24,753,396 (GRCm39) |
L335M |
probably damaging |
Het |
| Elfn2 |
A |
G |
15: 78,557,635 (GRCm39) |
V304A |
probably damaging |
Het |
| Emc1 |
C |
T |
4: 139,094,498 (GRCm39) |
R684W |
probably benign |
Het |
| Eme2 |
A |
T |
17: 25,113,809 (GRCm39) |
V72E |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,304,374 (GRCm39) |
K230* |
probably null |
Het |
| Gfap |
T |
A |
11: 102,787,928 (GRCm39) |
I6F |
probably benign |
Het |
| Grid2 |
T |
C |
6: 63,885,891 (GRCm39) |
S96P |
probably damaging |
Het |
| H2-M2 |
A |
G |
17: 37,794,383 (GRCm39) |
L13P |
unknown |
Het |
| Hps4 |
T |
G |
5: 112,517,977 (GRCm39) |
C323W |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,952,181 (GRCm39) |
K52E |
probably damaging |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Krt4 |
T |
A |
15: 101,828,724 (GRCm39) |
N380I |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,441,715 (GRCm39) |
C174S |
probably damaging |
Het |
| Lrrc8e |
T |
C |
8: 4,285,575 (GRCm39) |
I600T |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
| Mindy1 |
T |
C |
3: 95,202,122 (GRCm39) |
L333P |
probably damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,682 (GRCm39) |
S77P |
probably damaging |
Het |
| Mtus2 |
G |
T |
5: 148,013,713 (GRCm39) |
E169* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,765 (GRCm39) |
T2904A |
possibly damaging |
Het |
| Noxa1 |
C |
T |
2: 24,982,553 (GRCm39) |
|
probably null |
Het |
| Ogfod3 |
G |
A |
11: 121,095,376 (GRCm39) |
R5W |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,872,982 (GRCm39) |
I132F |
probably damaging |
Het |
| Or7g35 |
T |
A |
9: 19,496,020 (GRCm39) |
F62L |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,864,753 (GRCm39) |
S274P |
probably damaging |
Het |
| Pgm3 |
C |
A |
9: 86,446,828 (GRCm39) |
R230L |
probably benign |
Het |
| Plpbp |
A |
G |
8: 27,536,069 (GRCm39) |
I121V |
unknown |
Het |
| Prl8a9 |
T |
C |
13: 27,743,355 (GRCm39) |
D150G |
probably benign |
Het |
| Psapl1 |
A |
G |
5: 36,362,919 (GRCm39) |
N504D |
probably benign |
Het |
| Ptchd4 |
A |
C |
17: 42,814,066 (GRCm39) |
N656H |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,741,532 (GRCm39) |
Y577* |
probably null |
Het |
| Rasgef1c |
A |
G |
11: 49,858,228 (GRCm39) |
Y263C |
probably damaging |
Het |
| Rinl |
A |
G |
7: 28,490,014 (GRCm39) |
|
probably null |
Het |
| Scd4 |
T |
C |
19: 44,325,945 (GRCm39) |
F100L |
probably benign |
Het |
| Scgb2b20 |
T |
G |
7: 33,063,969 (GRCm39) |
R100S |
probably benign |
Het |
| Scn8a |
C |
T |
15: 100,927,718 (GRCm39) |
A1399V |
probably benign |
Het |
| Slc22a7 |
A |
G |
17: 46,747,756 (GRCm39) |
V267A |
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,440 (GRCm39) |
E263G |
possibly damaging |
Het |
| Slmap |
A |
G |
14: 26,143,703 (GRCm39) |
L728P |
probably damaging |
Het |
| Smarcb1 |
A |
T |
10: 75,745,986 (GRCm39) |
|
probably null |
Het |
| Sspn |
T |
C |
6: 145,901,361 (GRCm39) |
V80A |
possibly damaging |
Het |
| Tasor2 |
A |
T |
13: 3,619,516 (GRCm39) |
D2238E |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,195,399 (GRCm39) |
T581A |
probably benign |
Het |
| Themis |
A |
G |
10: 28,673,502 (GRCm39) |
*596W |
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,669,501 (GRCm39) |
F1341S |
probably benign |
Het |
| Trac |
T |
C |
14: 54,460,557 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,974,490 (GRCm39) |
T231A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,529 (GRCm39) |
I23455V |
probably benign |
Het |
| Wap |
G |
T |
11: 6,586,724 (GRCm39) |
T125K |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Zfp85 |
T |
C |
13: 67,896,893 (GRCm39) |
D393G |
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 |
|
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 |
|
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'- TCCTTAGACTCTGAGGCTGG -3'
(R):5'- GCTGGAATTGTGTGCCTTCTAATAG -3'
Sequencing Primer
(F):5'- AGACTCTGAGGCTGGGGAGTG -3'
(R):5'- GTGCCTTCTAATAGTTTCAGAACTGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation