Incidental Mutation 'R1481:Trim37'
| ID |
164389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim37
|
| Ensembl Gene |
ENSMUSG00000018548 |
| Gene Name |
tripartite motif-containing 37 |
| Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
| MMRRC Submission |
039534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1481 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 87020585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 22
(L22*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
[ENSMUST00000139532]
|
| AlphaFold |
Q6PCX9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041282
AA Change: L22*
|
| SMART Domains |
Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: L22*
| 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: ENSMUST00000129441
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139532
AA Change: C21S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119269
Gene: ENSMUSG00000018548
AA Change: C21S
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
75 |
117 |
7.32e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155828
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
100% (71/71) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
A |
G |
6: 43,251,568 (GRCm39) |
H773R |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,062,583 (GRCm39) |
V3365A |
probably damaging |
Het |
| Bmp3 |
G |
A |
5: 99,020,329 (GRCm39) |
V251M |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,148,722 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
C |
T |
18: 22,238,678 (GRCm39) |
G313D |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,459 (GRCm39) |
I129F |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,609,951 (GRCm39) |
Q120R |
possibly damaging |
Het |
| Ckb |
T |
C |
12: 111,637,696 (GRCm39) |
H145R |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,045,393 (GRCm39) |
N336K |
probably damaging |
Het |
| Coil |
T |
A |
11: 88,864,886 (GRCm39) |
C38S |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,183,041 (GRCm39) |
V133A |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,094 (GRCm39) |
E943G |
probably damaging |
Het |
| Cyp2c54 |
C |
T |
19: 40,036,032 (GRCm39) |
D293N |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,302 (GRCm39) |
S72P |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,601,902 (GRCm39) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,731,918 (GRCm39) |
T1158A |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,583,941 (GRCm39) |
V469I |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,613,714 (GRCm39) |
T221A |
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 21,956,782 (GRCm39) |
*1207W |
probably null |
Het |
| Eln |
T |
C |
5: 134,735,426 (GRCm39) |
K786E |
probably damaging |
Het |
| Fyb1 |
C |
T |
15: 6,649,128 (GRCm39) |
P385S |
probably benign |
Het |
| Galr1 |
A |
G |
18: 82,423,866 (GRCm39) |
I137T |
possibly damaging |
Het |
| Gcm1 |
A |
T |
9: 77,966,999 (GRCm39) |
K73* |
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,032,480 (GRCm39) |
N775D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,788,435 (GRCm39) |
H147Y |
probably damaging |
Het |
| Gm10754 |
G |
T |
10: 97,518,089 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,137 (GRCm39) |
D569G |
probably damaging |
Het |
| Grina |
T |
A |
15: 76,133,289 (GRCm39) |
Y286N |
probably damaging |
Het |
| Gtf3c1 |
C |
A |
7: 125,292,310 (GRCm39) |
|
probably null |
Het |
| Kcnc4 |
C |
T |
3: 107,355,534 (GRCm39) |
V305M |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,916,338 (GRCm39) |
F724L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,069,136 (GRCm39) |
Y249C |
probably damaging |
Het |
| Krt6b |
T |
C |
15: 101,586,809 (GRCm39) |
T269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,097,380 (GRCm39) |
K1555E |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,755,650 (GRCm39) |
Y104C |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,567,679 (GRCm39) |
T1681A |
unknown |
Het |
| Mettl17 |
T |
C |
14: 52,128,160 (GRCm39) |
L272P |
probably benign |
Het |
| Mib2 |
T |
A |
4: 155,741,456 (GRCm39) |
S357C |
probably benign |
Het |
| Mmp19 |
C |
A |
10: 128,634,047 (GRCm39) |
T316K |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,854,078 (GRCm39) |
G774E |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,096,325 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
C |
A |
5: 125,104,202 (GRCm39) |
E963* |
probably null |
Het |
| Nol6 |
T |
A |
4: 41,123,596 (GRCm39) |
T51S |
probably benign |
Het |
| Nsun3 |
A |
T |
16: 62,555,732 (GRCm39) |
C265S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,623,517 (GRCm39) |
N71K |
probably damaging |
Het |
| Or10a5 |
T |
G |
7: 106,635,356 (GRCm39) |
L5R |
probably benign |
Het |
| Or5p73 |
C |
T |
7: 108,065,167 (GRCm39) |
T212I |
probably benign |
Het |
| Orc3 |
T |
A |
4: 34,607,228 (GRCm39) |
E34V |
possibly damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,575,889 (GRCm39) |
L89Q |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,502,616 (GRCm39) |
V1241E |
probably null |
Het |
| Prpf39 |
C |
T |
12: 65,100,088 (GRCm39) |
P135S |
probably damaging |
Het |
| Psrc1 |
T |
C |
3: 108,292,309 (GRCm39) |
V34A |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,989,684 (GRCm39) |
V52M |
probably benign |
Het |
| Rassf9 |
A |
G |
10: 102,381,895 (GRCm39) |
T424A |
probably benign |
Het |
| Ripor3 |
G |
T |
2: 167,842,297 (GRCm39) |
R61S |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,466,867 (GRCm39) |
|
probably benign |
Het |
| Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,516 (GRCm39) |
V1366M |
probably benign |
Het |
| Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
| Tctn2 |
T |
C |
5: 124,745,826 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem45a |
A |
T |
16: 56,631,965 (GRCm39) |
F218I |
possibly damaging |
Het |
| Tpte |
A |
T |
8: 22,845,487 (GRCm39) |
R512S |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,783,916 (GRCm39) |
N1792D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,775,960 (GRCm39) |
M1694T |
probably damaging |
Het |
| Vmn1r181 |
T |
A |
7: 23,684,137 (GRCm39) |
W201R |
probably damaging |
Het |
| Wdr74 |
C |
T |
19: 8,715,592 (GRCm39) |
L198F |
possibly damaging |
Het |
| Zfp560 |
T |
C |
9: 20,260,086 (GRCm39) |
T259A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACTAATCAAGTTCTGACAGGGAGT -3'
(R):5'- GGGCATGGTTAATACTTACAGTGAAGCA -3'
Sequencing Primer
(F):5'- ctcagactgatagagatcgcc -3'
(R):5'- caggagggaggcagagg -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation