Incidental Mutation 'R3875:Trim32'
ID |
276779 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim32
|
Ensembl Gene |
ENSMUSG00000051675 |
Gene Name |
tripartite motif-containing 32 |
Synonyms |
3f3, Zfp117, 1810045E12Rik, BBS11 |
MMRRC Submission |
068967-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
R3875 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
65523223-65534475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65531703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 87
(I87F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050850]
[ENSMUST00000068214]
[ENSMUST00000084496]
[ENSMUST00000107366]
[ENSMUST00000155978]
[ENSMUST00000156922]
|
AlphaFold |
Q8CH72 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050850
AA Change: I87F
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000062277 Gene: ENSMUSG00000051675 AA Change: I87F
Domain | Start | End | E-Value | Type |
RING
|
21 |
65 |
8.61e-9 |
SMART |
BBOX
|
96 |
139 |
3.44e-8 |
SMART |
low complexity region
|
253 |
268 |
N/A |
INTRINSIC |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
Pfam:NHL
|
471 |
498 |
6.9e-7 |
PFAM |
Pfam:NHL
|
618 |
645 |
4.1e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000068214
|
SMART Domains |
Protein: ENSMUSP00000065786 Gene: ENSMUSG00000028373
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
low complexity region
|
87 |
127 |
N/A |
INTRINSIC |
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
low complexity region
|
342 |
361 |
N/A |
INTRINSIC |
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
low complexity region
|
432 |
437 |
N/A |
INTRINSIC |
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
EGF_like
|
526 |
563 |
2.92e1 |
SMART |
Blast:EGF_like
|
667 |
708 |
2e-18 |
BLAST |
EGF_like
|
715 |
764 |
4.03e1 |
SMART |
MACPF
|
864 |
1048 |
2.88e-55 |
SMART |
FN3
|
1079 |
1191 |
2.41e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084496
|
SMART Domains |
Protein: ENSMUSP00000081540 Gene: ENSMUSG00000028373
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
low complexity region
|
87 |
127 |
N/A |
INTRINSIC |
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
low complexity region
|
380 |
385 |
N/A |
INTRINSIC |
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
EGF_like
|
474 |
511 |
2.92e1 |
SMART |
Blast:EGF_like
|
615 |
656 |
2e-18 |
BLAST |
EGF_like
|
663 |
712 |
4.03e1 |
SMART |
MACPF
|
812 |
996 |
2.88e-55 |
SMART |
FN3
|
1027 |
1139 |
2.41e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107366
AA Change: I87F
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102989 Gene: ENSMUSG00000051675 AA Change: I87F
Domain | Start | End | E-Value | Type |
RING
|
21 |
65 |
8.61e-9 |
SMART |
BBOX
|
96 |
139 |
3.44e-8 |
SMART |
low complexity region
|
253 |
268 |
N/A |
INTRINSIC |
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
Pfam:NHL
|
373 |
400 |
3.6e-7 |
PFAM |
Pfam:NHL
|
471 |
498 |
2.7e-7 |
PFAM |
Pfam:NHL
|
618 |
645 |
2.5e-8 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155978
AA Change: I87F
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000119579 Gene: ENSMUSG00000051675 AA Change: I87F
Domain | Start | End | E-Value | Type |
RING
|
21 |
65 |
8.61e-9 |
SMART |
Blast:BBOX
|
96 |
136 |
3e-22 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156922
AA Change: I87F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121949 Gene: ENSMUSG00000051675 AA Change: I87F
Domain | Start | End | E-Value | Type |
RING
|
21 |
65 |
8.61e-9 |
SMART |
BBOX
|
96 |
139 |
3.44e-8 |
SMART |
|
Meta Mutation Damage Score |
0.2005 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (50/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit mild myopathy with sarcotubular myopathy, decreased fertility, and decreased axon diameter. Mice homozygous for a knock-out allele exhibit impaired adult muscle regeneration and myopathy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
C |
2: 152,276,000 (GRCm39) |
S72P |
probably benign |
Het |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Adgrg2 |
A |
G |
X: 159,261,992 (GRCm39) |
S337G |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
Cacna1g |
G |
A |
11: 94,328,749 (GRCm39) |
T1033I |
probably damaging |
Het |
Car12 |
C |
A |
9: 66,624,834 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
G |
A |
2: 155,918,202 (GRCm39) |
H352Y |
probably damaging |
Het |
D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm39) |
T69S |
probably benign |
Het |
Dhodh |
T |
C |
8: 110,321,592 (GRCm39) |
D310G |
probably null |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Drd5 |
T |
G |
5: 38,477,157 (GRCm39) |
V50G |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,210,328 (GRCm39) |
H934Q |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
Far2 |
G |
A |
6: 148,052,089 (GRCm39) |
E123K |
probably benign |
Het |
Fbxo43 |
A |
T |
15: 36,162,249 (GRCm39) |
F319L |
probably benign |
Het |
Flii |
T |
C |
11: 60,611,318 (GRCm39) |
S418G |
probably benign |
Het |
Glyctk |
T |
A |
9: 106,034,820 (GRCm39) |
Y82F |
probably damaging |
Het |
Gm11353 |
G |
T |
13: 26,676,651 (GRCm39) |
|
noncoding transcript |
Het |
Gm6505 |
T |
A |
3: 28,819,286 (GRCm39) |
|
noncoding transcript |
Het |
Gpr151 |
A |
G |
18: 42,711,661 (GRCm39) |
V339A |
probably benign |
Het |
H2-T22 |
T |
C |
17: 36,351,195 (GRCm39) |
I296V |
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,882,352 (GRCm39) |
N2831S |
probably damaging |
Het |
Igkv13-85 |
A |
G |
6: 68,907,484 (GRCm39) |
V39A |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,793 (GRCm39) |
T242A |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
Mcoln1 |
A |
G |
8: 3,558,355 (GRCm39) |
D203G |
probably benign |
Het |
Mlph |
T |
C |
1: 90,855,844 (GRCm39) |
C57R |
probably damaging |
Het |
Myh13 |
C |
A |
11: 67,249,020 (GRCm39) |
H1275Q |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,233,758 (GRCm39) |
|
probably benign |
Het |
Orc5 |
T |
A |
5: 22,742,564 (GRCm39) |
M115L |
probably benign |
Het |
Pcdha6 |
T |
A |
18: 37,101,119 (GRCm39) |
I104N |
probably damaging |
Het |
Plcb4 |
T |
C |
2: 135,844,552 (GRCm39) |
S157P |
probably damaging |
Het |
Polq |
A |
G |
16: 36,894,389 (GRCm39) |
D1787G |
probably damaging |
Het |
Prkar2b |
T |
G |
12: 32,015,122 (GRCm39) |
I142L |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,520,965 (GRCm39) |
S736P |
possibly damaging |
Het |
Qrich2 |
A |
T |
11: 116,336,477 (GRCm39) |
V2046D |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,833,361 (GRCm39) |
F373I |
probably damaging |
Het |
Rcvrn |
A |
G |
11: 67,590,880 (GRCm39) |
I155V |
probably benign |
Het |
Rsrc2 |
C |
T |
5: 123,874,691 (GRCm39) |
|
probably benign |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,930,261 (GRCm39) |
D114V |
probably damaging |
Het |
St6gal2 |
C |
A |
17: 55,789,698 (GRCm39) |
P244Q |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,165,538 (GRCm39) |
|
probably benign |
Het |
Tmem221 |
T |
C |
8: 72,008,399 (GRCm39) |
|
probably null |
Het |
Trh |
A |
T |
6: 92,220,679 (GRCm39) |
V61E |
possibly damaging |
Het |
Tti2 |
A |
G |
8: 31,641,175 (GRCm39) |
K100E |
probably benign |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vps13d |
A |
G |
4: 144,917,114 (GRCm39) |
Y17H |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,365,094 (GRCm39) |
K438E |
probably benign |
Het |
Zfp60 |
T |
C |
7: 27,449,006 (GRCm39) |
I558T |
probably damaging |
Het |
Zzef1 |
A |
C |
11: 72,779,866 (GRCm39) |
I1880L |
probably benign |
Het |
|
Other mutations in Trim32 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02142:Trim32
|
APN |
4 |
65,532,736 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02534:Trim32
|
APN |
4 |
65,532,906 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0302:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R0356:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R0358:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R0497:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R0544:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R0547:Trim32
|
UTSW |
4 |
65,531,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R0611:Trim32
|
UTSW |
4 |
65,531,893 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1183:Trim32
|
UTSW |
4 |
65,532,628 (GRCm39) |
missense |
probably benign |
0.00 |
R1523:Trim32
|
UTSW |
4 |
65,532,241 (GRCm39) |
missense |
probably benign |
0.04 |
R1784:Trim32
|
UTSW |
4 |
65,532,634 (GRCm39) |
missense |
probably damaging |
0.96 |
R1939:Trim32
|
UTSW |
4 |
65,532,303 (GRCm39) |
missense |
probably benign |
|
R2069:Trim32
|
UTSW |
4 |
65,533,013 (GRCm39) |
nonsense |
probably null |
|
R2869:Trim32
|
UTSW |
4 |
65,532,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Trim32
|
UTSW |
4 |
65,532,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R5464:Trim32
|
UTSW |
4 |
65,532,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R6246:Trim32
|
UTSW |
4 |
65,532,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R6610:Trim32
|
UTSW |
4 |
65,533,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R8125:Trim32
|
UTSW |
4 |
65,532,199 (GRCm39) |
missense |
probably benign |
0.05 |
R8128:Trim32
|
UTSW |
4 |
65,531,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R8430:Trim32
|
UTSW |
4 |
65,532,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Trim32
|
UTSW |
4 |
65,531,692 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1177:Trim32
|
UTSW |
4 |
65,533,062 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGGAGTCCTTCACTGAAGAG -3'
(R):5'- TTAGACGAGTCAACTTCTCCCC -3'
Sequencing Primer
(F):5'- GCAGCTGCGACCCAAGC -3'
(R):5'- TCCCCGAAGTCCCTCCG -3'
|
Posted On |
2015-04-06 |