Incidental Mutation 'R9587:Trim36'
| ID |
722862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim36
|
| Ensembl Gene |
ENSMUSG00000033949 |
| Gene Name |
tripartite motif-containing 36 |
| Synonyms |
Haprin, D18Wsu100e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R9587 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
46298367-46345674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46308722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 380
(E380G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037011]
[ENSMUST00000167364]
|
| AlphaFold |
Q80WG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037011
AA Change: E380G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: E380G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
33 |
118 |
1.25e-5 |
SMART |
|
BBOX
|
207 |
249 |
1.82e-7 |
SMART |
|
Blast:BBC
|
256 |
381 |
5e-11 |
BLAST |
|
FN3
|
418 |
498 |
1.32e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167364
AA Change: E368G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: E368G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
21 |
106 |
1.25e-5 |
SMART |
|
BBOX
|
195 |
237 |
1.82e-7 |
SMART |
|
Blast:BBC
|
244 |
369 |
4e-11 |
BLAST |
|
FN3
|
406 |
486 |
1.32e-1 |
SMART |
|
Pfam:SPRY
|
560 |
704 |
1.7e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,119,149 (GRCm39) |
L3552Q |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,209,182 (GRCm39) |
E353G |
probably benign |
Het |
| Banf2 |
A |
G |
2: 143,907,452 (GRCm39) |
K42R |
probably damaging |
Het |
| Cabp7 |
T |
A |
11: 4,688,865 (GRCm39) |
M202L |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,233 (GRCm39) |
E204G |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,770,500 (GRCm39) |
V498A |
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,440,878 (GRCm39) |
F150L |
probably damaging |
Het |
| Cyb5r1 |
G |
A |
1: 134,335,387 (GRCm39) |
G141R |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,999,217 (GRCm39) |
Q974R |
probably null |
Het |
| Eps8l3 |
G |
A |
3: 107,798,683 (GRCm39) |
R523Q |
probably benign |
Het |
| Ext1 |
T |
C |
15: 52,955,808 (GRCm39) |
I430V |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,481,717 (GRCm39) |
K202R |
probably damaging |
Het |
| Gm11567 |
T |
C |
11: 99,770,136 (GRCm39) |
W25R |
unknown |
Het |
| Gpr3 |
G |
A |
4: 132,937,988 (GRCm39) |
A228V |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,277,420 (GRCm39) |
D426G |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,174,453 (GRCm39) |
I205F |
probably damaging |
Het |
| Krt33a |
T |
C |
11: 99,906,733 (GRCm39) |
N81D |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,277 (GRCm39) |
S505P |
possibly damaging |
Het |
| Matr3 |
A |
G |
18: 35,717,876 (GRCm39) |
D696G |
probably null |
Het |
| Mov10 |
C |
T |
3: 104,711,899 (GRCm39) |
G158S |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,102,196 (GRCm39) |
M829K |
probably benign |
Het |
| Ncam2 |
T |
C |
16: 81,262,501 (GRCm39) |
V318A |
probably benign |
Het |
| Ndufv3 |
A |
G |
17: 31,747,106 (GRCm39) |
E332G |
probably benign |
Het |
| Ngdn |
C |
T |
14: 55,254,578 (GRCm39) |
T43M |
probably benign |
Het |
| Nop2 |
T |
A |
6: 125,117,785 (GRCm39) |
D445E |
probably damaging |
Het |
| Or2y17 |
C |
T |
11: 49,232,007 (GRCm39) |
S216F |
probably benign |
Het |
| Or3a10 |
G |
A |
11: 73,935,360 (GRCm39) |
H247Y |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,584,184 (GRCm39) |
M51K |
possibly damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,564 (GRCm39) |
V297E |
probably damaging |
Het |
| Prl2b1 |
G |
A |
13: 27,567,601 (GRCm39) |
A181V |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,663,679 (GRCm39) |
D319G |
probably damaging |
Het |
| Sfswap |
G |
A |
5: 129,618,427 (GRCm39) |
D454N |
probably benign |
Het |
| Slc38a6 |
G |
T |
12: 73,388,513 (GRCm39) |
K242N |
probably benign |
Het |
| Tmigd3 |
A |
G |
3: 105,824,088 (GRCm39) |
D19G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,624,976 (GRCm39) |
I15201F |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,322 (GRCm39) |
S414P |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,936 (GRCm39) |
K306N |
possibly damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,769,230 (GRCm39) |
Y2232* |
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,075,830 (GRCm39) |
D345G |
probably damaging |
Het |
| Zfp26 |
G |
A |
9: 20,348,213 (GRCm39) |
R784C |
probably damaging |
Het |
| Zfp58 |
A |
T |
13: 67,639,823 (GRCm39) |
C223S |
probably damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,916 (GRCm39) |
H899R |
|
Het |
| Zfp963 |
A |
G |
8: 70,195,692 (GRCm39) |
Y254H |
probably benign |
Het |
| Zfp994 |
T |
C |
17: 22,421,764 (GRCm39) |
D17G |
probably damaging |
Het |
|
| Other mutations in Trim36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01710:Trim36
|
APN |
18 |
46,321,455 (GRCm39) |
splice site |
probably benign |
|
|
IGL02728:Trim36
|
APN |
18 |
46,305,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03166:Trim36
|
APN |
18 |
46,345,388 (GRCm39) |
missense |
probably benign |
|
|
IGL03209:Trim36
|
APN |
18 |
46,300,575 (GRCm39) |
missense |
probably benign |
|
|
R0346:Trim36
|
UTSW |
18 |
46,332,776 (GRCm39) |
unclassified |
probably benign |
|
|
R0426:Trim36
|
UTSW |
18 |
46,305,592 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0463:Trim36
|
UTSW |
18 |
46,311,523 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0590:Trim36
|
UTSW |
18 |
46,305,643 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0751:Trim36
|
UTSW |
18 |
46,329,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1037:Trim36
|
UTSW |
18 |
46,329,385 (GRCm39) |
splice site |
probably benign |
|
|
R1184:Trim36
|
UTSW |
18 |
46,329,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Trim36
|
UTSW |
18 |
46,319,250 (GRCm39) |
nonsense |
probably null |
|
|
R1571:Trim36
|
UTSW |
18 |
46,305,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1687:Trim36
|
UTSW |
18 |
46,321,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2057:Trim36
|
UTSW |
18 |
46,329,229 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2103:Trim36
|
UTSW |
18 |
46,329,149 (GRCm39) |
missense |
probably benign |
|
|
R2127:Trim36
|
UTSW |
18 |
46,345,404 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3853:Trim36
|
UTSW |
18 |
46,305,439 (GRCm39) |
splice site |
probably benign |
|
|
R4209:Trim36
|
UTSW |
18 |
46,329,191 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4787:Trim36
|
UTSW |
18 |
46,305,599 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4810:Trim36
|
UTSW |
18 |
46,305,536 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4953:Trim36
|
UTSW |
18 |
46,329,245 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5107:Trim36
|
UTSW |
18 |
46,305,705 (GRCm39) |
missense |
probably benign |
|
|
R5320:Trim36
|
UTSW |
18 |
46,300,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Trim36
|
UTSW |
18 |
46,302,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5823:Trim36
|
UTSW |
18 |
46,302,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Trim36
|
UTSW |
18 |
46,321,475 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7349:Trim36
|
UTSW |
18 |
46,302,495 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7814:Trim36
|
UTSW |
18 |
46,300,691 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7853:Trim36
|
UTSW |
18 |
46,305,558 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8008:Trim36
|
UTSW |
18 |
46,305,556 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8294:Trim36
|
UTSW |
18 |
46,331,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8735:Trim36
|
UTSW |
18 |
46,302,452 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8899:Trim36
|
UTSW |
18 |
46,302,264 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9091:Trim36
|
UTSW |
18 |
46,300,580 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9106:Trim36
|
UTSW |
18 |
46,300,664 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9135:Trim36
|
UTSW |
18 |
46,302,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9262:Trim36
|
UTSW |
18 |
46,300,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9270:Trim36
|
UTSW |
18 |
46,300,580 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9505:Trim36
|
UTSW |
18 |
46,329,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Trim36
|
UTSW |
18 |
46,308,623 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9763:Trim36
|
UTSW |
18 |
46,309,125 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCATCTGCGGTACACAC -3'
(R):5'- AAGCAGCTCCATCTCAGGTAC -3'
Sequencing Primer
(F):5'- TCTGCGGTACACACACAGC -3'
(R):5'- GGCTCCTTGGCTTCTGAAAAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation