Incidental Mutation 'R7938:Trim37'
| ID |
648888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim37
|
| Ensembl Gene |
ENSMUSG00000018548 |
| Gene Name |
tripartite motif-containing 37 |
| Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
| MMRRC Submission |
045984-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7938 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87037863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 199
(N199S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
[ENSMUST00000139532]
|
| AlphaFold |
Q6PCX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041282
AA Change: N199S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: N199S
| 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
AA Change: N184S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000119269
Gene: ENSMUSG00000018548
AA Change: N184S
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
75 |
117 |
7.32e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Bcam |
T |
G |
7: 19,490,738 (GRCm39) |
E586D |
probably benign |
Het |
| Bmp7 |
A |
C |
2: 172,721,283 (GRCm39) |
I264S |
probably benign |
Het |
| Casz1 |
G |
A |
4: 149,028,943 (GRCm39) |
M1129I |
probably benign |
Het |
| Ccdc59 |
T |
A |
10: 105,677,455 (GRCm39) |
N31K |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,887,376 (GRCm39) |
Y607C |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,597 (GRCm39) |
E639G |
probably benign |
Het |
| Coch |
T |
A |
12: 51,643,366 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
C |
9: 105,657,883 (GRCm39) |
Y776* |
probably null |
Het |
| Cyp1a1 |
T |
G |
9: 57,609,073 (GRCm39) |
L318R |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,389,666 (GRCm39) |
Y233F |
probably benign |
Het |
| Dgkz |
G |
T |
2: 91,795,817 (GRCm39) |
R42S |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,673,218 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,163,922 (GRCm39) |
N3111S |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,260,246 (GRCm39) |
S768P |
probably benign |
Het |
| Gm45861 |
T |
A |
8: 28,071,990 (GRCm39) |
N1269K |
unknown |
Het |
| Gpr12 |
T |
A |
5: 146,520,094 (GRCm39) |
Y276F |
possibly damaging |
Het |
| Hace1 |
C |
T |
10: 45,562,792 (GRCm39) |
P769L |
probably benign |
Het |
| Hapln1 |
G |
A |
13: 89,753,347 (GRCm39) |
R171H |
probably damaging |
Het |
| Hlx |
T |
G |
1: 184,464,125 (GRCm39) |
T72P |
probably benign |
Het |
| Iqcm |
G |
T |
8: 76,304,596 (GRCm39) |
C119F |
probably benign |
Het |
| Katna1 |
G |
T |
10: 7,637,075 (GRCm39) |
A409S |
probably benign |
Het |
| Kcnip2 |
A |
T |
19: 45,782,729 (GRCm39) |
I204N |
probably damaging |
Het |
| Kel |
G |
T |
6: 41,675,310 (GRCm39) |
Q314K |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,536,444 (GRCm39) |
V5A |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,607,896 (GRCm39) |
C282S |
probably benign |
Het |
| Lyar |
A |
G |
5: 38,388,295 (GRCm39) |
T274A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,415,959 (GRCm39) |
H306R |
possibly damaging |
Het |
| Morn5 |
A |
T |
2: 35,947,082 (GRCm39) |
Y120F |
probably benign |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,240 (GRCm39) |
T193A |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,583,327 (GRCm39) |
W8R |
unknown |
Het |
| Nfasc |
A |
G |
1: 132,533,269 (GRCm39) |
V644A |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,842,855 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,141,866 (GRCm39) |
K393E |
possibly damaging |
Het |
| Or1o4 |
T |
A |
17: 37,590,991 (GRCm39) |
M107L |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,173 (GRCm39) |
Y256* |
probably null |
Het |
| Or5h19 |
A |
T |
16: 58,856,325 (GRCm39) |
Y258* |
probably null |
Het |
| Orc4 |
A |
T |
2: 48,800,203 (GRCm39) |
V315E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,443,549 (GRCm39) |
|
probably null |
Het |
| Pif1 |
A |
G |
9: 65,502,073 (GRCm39) |
D635G |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,310,648 (GRCm39) |
T52A |
probably damaging |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,180 (GRCm39) |
D301V |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,500 (GRCm39) |
N215S |
probably benign |
Het |
| Qser1 |
A |
C |
2: 104,619,312 (GRCm39) |
V410G |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,155,870 (GRCm39) |
N2207K |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,327,810 (GRCm39) |
V180A |
probably benign |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rsph3a |
G |
T |
17: 8,165,050 (GRCm39) |
E137* |
probably null |
Het |
| Spata31f1a |
A |
G |
4: 42,850,765 (GRCm39) |
S464P |
possibly damaging |
Het |
| Sqle |
C |
A |
15: 59,196,315 (GRCm39) |
H369Q |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,057,016 (GRCm39) |
D250E |
probably damaging |
Het |
| Svs3b |
A |
T |
2: 164,097,567 (GRCm39) |
C251* |
probably null |
Het |
| Tdrd9 |
A |
T |
12: 111,997,649 (GRCm39) |
N713Y |
possibly damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,717 (GRCm39) |
S202P |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
| Trav8-1 |
T |
G |
14: 53,707,688 (GRCm39) |
D109E |
possibly damaging |
Het |
| Trem2 |
T |
A |
17: 48,658,777 (GRCm39) |
S181T |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
| Ubxn8 |
A |
G |
8: 34,111,712 (GRCm39) |
M227T |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,296,519 (GRCm39) |
I448F |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,687,132 (GRCm39) |
L697M |
probably damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,300 (GRCm39) |
D613G |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,622,304 (GRCm39) |
Y11C |
unknown |
Het |
| Zw10 |
T |
A |
9: 48,982,933 (GRCm39) |
D521E |
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 |
|
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'- GCAATGTTGCCTACATAGTACAATT -3'
(R):5'- TATTCCAACAGAAGCCAGACTT -3'
Sequencing Primer
(F):5'- CAATGATTGCATTATCATGTTCTTGC -3'
(R):5'- GCCAGACTTGTGGTCAGATTAAAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation