Incidental Mutation 'R9234:Trim37'
| ID |
700995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim37
|
| Ensembl Gene |
ENSMUSG00000018548 |
| Gene Name |
tripartite motif-containing 37 |
| Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9234 (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 87036393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 158
(I158T)
|
| 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: I158T
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: I158T
| 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 damaging
Transcript: ENSMUST00000139532
AA Change: I143T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119269
Gene: ENSMUSG00000018548
AA Change: I143T
| 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: 99.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
G |
2: 155,845,798 (GRCm39) |
Y20H |
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,964,628 (GRCm39) |
F348L |
possibly damaging |
Het |
| Bms1 |
C |
A |
6: 118,375,044 (GRCm39) |
A777S |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,049,012 (GRCm39) |
Y61C |
|
Het |
| Caprin2 |
A |
T |
6: 148,744,337 (GRCm39) |
Y1029* |
probably null |
Het |
| Casp1 |
A |
T |
9: 5,303,128 (GRCm39) |
D194V |
probably benign |
Het |
| Crkl |
A |
G |
16: 17,286,822 (GRCm39) |
E126G |
probably damaging |
Het |
| Crp |
A |
T |
1: 172,526,413 (GRCm39) |
D166V |
probably damaging |
Het |
| Dnah10 |
A |
C |
5: 124,818,989 (GRCm39) |
D425A |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 117,951,095 (GRCm39) |
L3071Q |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,924,751 (GRCm39) |
I2168F |
possibly damaging |
Het |
| Elp3 |
T |
A |
14: 65,788,920 (GRCm39) |
I388F |
probably damaging |
Het |
| Espn |
C |
A |
4: 152,217,380 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
G |
T |
5: 110,511,250 (GRCm39) |
F504L |
probably benign |
Het |
| Fzd9 |
A |
C |
5: 135,279,540 (GRCm39) |
M115R |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,899,682 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Gm9195 |
A |
T |
14: 72,695,786 (GRCm39) |
Y1415* |
probably null |
Het |
| Gnpat |
T |
A |
8: 125,610,179 (GRCm39) |
L454Q |
probably damaging |
Het |
| Grm5 |
C |
T |
7: 87,723,440 (GRCm39) |
P577S |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,041,334 (GRCm39) |
N683S |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Leng8 |
C |
A |
7: 4,145,247 (GRCm39) |
P216T |
probably damaging |
Het |
| Letm2 |
C |
A |
8: 26,084,102 (GRCm39) |
R43L |
probably benign |
Het |
| Lims2 |
A |
T |
18: 32,090,943 (GRCm39) |
Y309F |
probably benign |
Het |
| Llgl1 |
T |
C |
11: 60,600,956 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,194,089 (GRCm39) |
D1417E |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,029,261 (GRCm39) |
N345K |
unknown |
Het |
| Mapre2 |
T |
C |
18: 23,937,236 (GRCm39) |
I26T |
probably benign |
Het |
| Nfe2 |
A |
G |
15: 103,159,636 (GRCm39) |
|
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,695,622 (GRCm39) |
|
probably null |
Het |
| Or51b6b |
T |
A |
7: 103,309,950 (GRCm39) |
Y169F |
possibly damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,651 (GRCm39) |
F96S |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,789 (GRCm39) |
N104D |
probably benign |
Het |
| Otud7b |
G |
T |
3: 96,047,771 (GRCm39) |
Q43H |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,695 (GRCm39) |
V25A |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,560,439 (GRCm39) |
T163A |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,324,262 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,194,300 (GRCm39) |
W26R |
probably null |
Het |
| Pigp |
T |
A |
16: 94,165,522 (GRCm39) |
*206Y |
probably null |
Het |
| Pip5kl1 |
G |
T |
2: 32,468,211 (GRCm39) |
G126C |
probably benign |
Het |
| Plekhg2 |
G |
T |
7: 28,064,215 (GRCm39) |
T442K |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,748,674 (GRCm39) |
S375T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,340,943 (GRCm39) |
M3529K |
|
Het |
| Ror2 |
C |
A |
13: 53,265,374 (GRCm39) |
D573Y |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,962,579 (GRCm39) |
T98A |
unknown |
Het |
| Shcbp1 |
A |
T |
8: 4,798,800 (GRCm39) |
I373K |
possibly damaging |
Het |
| Slc25a42 |
A |
G |
8: 70,642,736 (GRCm39) |
S64P |
probably damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,410 (GRCm39) |
I155F |
probably damaging |
Het |
| Snx4 |
C |
A |
16: 33,087,161 (GRCm39) |
S102* |
probably null |
Het |
| Snx4 |
T |
A |
16: 33,108,069 (GRCm39) |
S288T |
probably benign |
Het |
| Socs4 |
A |
G |
14: 47,527,716 (GRCm39) |
N217S |
probably benign |
Het |
| Tatdn2 |
G |
A |
6: 113,679,683 (GRCm39) |
|
probably null |
Het |
| Tmprss2 |
A |
G |
16: 97,379,821 (GRCm39) |
Y160H |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,811,990 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
G |
A |
2: 69,727,990 (GRCm39) |
A118T |
probably benign |
Het |
| Ubxn7 |
T |
C |
16: 32,178,895 (GRCm39) |
|
probably null |
Het |
| Unc5cl |
C |
T |
17: 48,770,658 (GRCm39) |
H369Y |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,250,877 (GRCm39) |
N263K |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,907 (GRCm39) |
I636T |
possibly damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,792 (GRCm39) |
Q1578K |
|
Het |
| Wnk2 |
T |
C |
13: 49,224,274 (GRCm39) |
D1171G |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,470 (GRCm39) |
Y985C |
probably damaging |
Het |
| Zpbp2 |
A |
T |
11: 98,443,398 (GRCm39) |
N77I |
probably 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 |
|
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 |
|
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'- CTGGCCCTGTTTTAAGAAGATAAAGG -3'
(R):5'- CAGTGCTCTGGGTGTAAATTTCTC -3'
Sequencing Primer
(F):5'- TTTACCAGTTTGATTGTCCATAGTG -3'
(R):5'- CTACTTTTTGATGCTAAGACTTGAGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation