Incidental Mutation 'R5244:Trim37'
ID |
401073 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim37
|
Ensembl Gene |
ENSMUSG00000018548 |
Gene Name |
tripartite motif-containing 37 |
Synonyms |
MUL, TEF3, 1110032A10Rik, 2810004E07Rik |
MMRRC Submission |
042815-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5244 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87017903-87111509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87109083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 937
(H937Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041282]
|
AlphaFold |
Q6PCX9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041282
AA Change: H937Y
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000049057 Gene: ENSMUSG00000018548 AA Change: H937Y
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 |
silent
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 |
|
Meta Mutation Damage Score |
0.0615 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (63/65) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
G |
T |
9: 53,323,098 (GRCm39) |
G45W |
probably damaging |
Het |
Abca13 |
C |
T |
11: 9,225,081 (GRCm39) |
T520I |
probably benign |
Het |
Adamtsl3 |
C |
T |
7: 82,247,277 (GRCm39) |
P485L |
probably benign |
Het |
Bbof1 |
A |
C |
12: 84,476,847 (GRCm39) |
E492A |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,944,818 (GRCm39) |
E483G |
probably damaging |
Het |
Cbs |
C |
T |
17: 31,836,134 (GRCm39) |
G438D |
probably damaging |
Het |
Chil6 |
A |
G |
3: 106,297,290 (GRCm39) |
Y284H |
probably damaging |
Het |
Cops4 |
C |
A |
5: 100,681,241 (GRCm39) |
Q131K |
probably benign |
Het |
Cul4a |
T |
C |
8: 13,196,566 (GRCm39) |
I740T |
probably damaging |
Het |
Cyfip1 |
C |
T |
7: 55,574,947 (GRCm39) |
T1066I |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,273,018 (GRCm39) |
L2382P |
probably damaging |
Het |
Ehd3 |
A |
T |
17: 74,136,995 (GRCm39) |
H388L |
probably benign |
Het |
Fam13a |
G |
T |
6: 58,930,459 (GRCm39) |
Y484* |
probably null |
Het |
Gm5117 |
A |
G |
8: 32,228,305 (GRCm39) |
|
noncoding transcript |
Het |
Gulp1 |
G |
A |
1: 44,827,613 (GRCm39) |
D260N |
probably damaging |
Het |
Hhipl1 |
T |
A |
12: 108,278,393 (GRCm39) |
N240K |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,259,451 (GRCm39) |
E2474D |
possibly damaging |
Het |
Ifi207 |
C |
T |
1: 173,557,503 (GRCm39) |
V412I |
probably benign |
Het |
Ighv9-4 |
T |
C |
12: 114,263,871 (GRCm39) |
I21V |
probably benign |
Het |
Kcnh1 |
A |
T |
1: 191,907,184 (GRCm39) |
T79S |
probably benign |
Het |
Kpna6 |
A |
G |
4: 129,549,221 (GRCm39) |
|
probably null |
Het |
Lnpk |
C |
T |
2: 74,362,232 (GRCm39) |
G262D |
probably damaging |
Het |
Lsm7 |
T |
C |
10: 80,688,907 (GRCm39) |
E66G |
probably benign |
Het |
Mbd3l1 |
T |
A |
9: 18,395,933 (GRCm39) |
C19* |
probably null |
Het |
Mfsd6l |
T |
A |
11: 68,448,001 (GRCm39) |
L284Q |
possibly damaging |
Het |
Naip5 |
C |
T |
13: 100,382,170 (GRCm39) |
V180I |
probably benign |
Het |
Or2ag1b |
T |
A |
7: 106,288,396 (GRCm39) |
I181F |
probably benign |
Het |
Or2j6 |
A |
T |
7: 139,980,051 (GRCm39) |
C303S |
probably benign |
Het |
Or4k39 |
T |
A |
2: 111,238,899 (GRCm39) |
|
noncoding transcript |
Het |
Or6d13 |
T |
A |
6: 116,518,187 (GRCm39) |
Y258N |
probably damaging |
Het |
Or7g22 |
A |
T |
9: 19,049,147 (GRCm39) |
N286I |
probably damaging |
Het |
Or8g20 |
T |
G |
9: 39,395,808 (GRCm39) |
H247P |
probably damaging |
Het |
Or8u10 |
C |
G |
2: 85,915,300 (GRCm39) |
A274P |
probably damaging |
Het |
Pck1 |
T |
A |
2: 172,996,656 (GRCm39) |
I190N |
possibly damaging |
Het |
Pfkfb3 |
T |
A |
2: 11,489,660 (GRCm39) |
I209F |
probably damaging |
Het |
Phc1 |
A |
G |
6: 122,298,938 (GRCm39) |
S677P |
probably damaging |
Het |
Pirb |
G |
A |
7: 3,719,062 (GRCm39) |
A609V |
probably benign |
Het |
Plag1 |
A |
T |
4: 3,903,887 (GRCm39) |
S435T |
probably benign |
Het |
Plscr2 |
C |
G |
9: 92,173,102 (GRCm39) |
L215V |
probably benign |
Het |
Pnma8a |
A |
G |
7: 16,695,248 (GRCm39) |
S368G |
probably damaging |
Het |
Polr2b |
A |
G |
5: 77,490,847 (GRCm39) |
|
probably benign |
Het |
Pthlh |
T |
C |
6: 147,158,651 (GRCm39) |
Y103C |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,697,494 (GRCm39) |
I85L |
possibly damaging |
Het |
Slc27a2 |
T |
C |
2: 126,420,775 (GRCm39) |
V422A |
probably benign |
Het |
Slc29a1 |
T |
C |
17: 45,899,339 (GRCm39) |
|
probably benign |
Het |
Slc36a4 |
A |
T |
9: 15,645,574 (GRCm39) |
I334F |
probably benign |
Het |
Slc4a10 |
T |
A |
2: 62,119,069 (GRCm39) |
S761R |
probably damaging |
Het |
Spa17 |
T |
A |
9: 37,523,285 (GRCm39) |
M1L |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stk19 |
A |
G |
17: 35,051,046 (GRCm39) |
L72P |
probably damaging |
Het |
Trhde |
T |
C |
10: 114,636,986 (GRCm39) |
M74V |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,314,269 (GRCm39) |
L46P |
probably damaging |
Het |
Ttll4 |
T |
C |
1: 74,735,607 (GRCm39) |
V1005A |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,239,765 (GRCm39) |
T207A |
probably damaging |
Het |
Unc13c |
C |
T |
9: 73,433,233 (GRCm39) |
|
probably null |
Het |
Vmn1r221 |
T |
C |
13: 23,401,808 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r101 |
T |
C |
17: 19,831,788 (GRCm39) |
S595P |
probably damaging |
Het |
Wnt10a |
T |
C |
1: 74,842,454 (GRCm39) |
L310P |
probably damaging |
Het |
Yif1b |
G |
A |
7: 28,943,866 (GRCm39) |
A115T |
probably damaging |
Het |
Zfp219 |
C |
A |
14: 52,245,999 (GRCm39) |
R331L |
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 |
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'- TCCTTAGACTCTGAGGCTGG -3'
(R):5'- AGAACTGCTATTTCAGGTAGAGATG -3'
Sequencing Primer
(F):5'- AGACTCTGAGGCTGGGGAGTG -3'
(R):5'- TCAGGTAGAGATGACAAAAAGAAATG -3'
|
Posted On |
2016-07-06 |