Incidental Mutation 'R9505:Trim36'
| ID |
717803 |
| 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 # |
R9505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
46298367-46345674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46329281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 53
(C53F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037011]
[ENSMUST00000167364]
|
| AlphaFold |
Q80WG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037011
AA Change: C53F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: C53F
| 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 damaging
Transcript: ENSMUST00000167364
AA Change: C41F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: C41F
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,185,782 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
C |
7: 66,774,683 (GRCm39) |
N961T |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,855,751 (GRCm39) |
T373I |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,385,522 (GRCm39) |
E85A |
probably benign |
Het |
| Brca1 |
G |
T |
11: 101,403,592 (GRCm39) |
H1437N |
probably benign |
Het |
| Camk2n1 |
T |
C |
4: 138,182,567 (GRCm39) |
I24T |
possibly damaging |
Het |
| Ces2f |
T |
A |
8: 105,676,669 (GRCm39) |
M121K |
probably benign |
Het |
| Cfap299 |
A |
G |
5: 98,477,213 (GRCm39) |
M1V |
probably null |
Het |
| CN725425 |
T |
A |
15: 91,124,867 (GRCm39) |
Y136N |
possibly damaging |
Het |
| Ctla2a |
T |
A |
13: 61,084,342 (GRCm39) |
M2L |
unknown |
Het |
| Cyp3a57 |
A |
T |
5: 145,286,139 (GRCm39) |
Y25F |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,697,297 (GRCm39) |
V87M |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,644,912 (GRCm39) |
I1123N |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,841,909 (GRCm39) |
K615* |
probably null |
Het |
| Fkbp10 |
G |
T |
11: 100,306,826 (GRCm39) |
E73* |
probably null |
Het |
| Flnb |
C |
A |
14: 7,904,665 (GRCm38) |
H1023N |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,613,026 (GRCm39) |
Q312H |
|
Het |
| Garre1 |
A |
T |
7: 33,984,371 (GRCm39) |
L84Q |
probably damaging |
Het |
| Htr1d |
A |
T |
4: 136,170,889 (GRCm39) |
I373F |
probably benign |
Het |
| Inhba |
G |
A |
13: 16,201,356 (GRCm39) |
R306H |
probably damaging |
Het |
| Inka1 |
T |
A |
9: 107,862,092 (GRCm39) |
K75* |
probably null |
Het |
| Iqcg |
A |
T |
16: 32,861,247 (GRCm39) |
D156E |
probably benign |
Het |
| Ireb2 |
C |
A |
9: 54,813,921 (GRCm39) |
T798K |
probably damaging |
Het |
| Klk1b8 |
G |
A |
7: 43,451,605 (GRCm39) |
A199T |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,711,775 (GRCm39) |
T182A |
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,900,638 (GRCm39) |
R228L |
probably damaging |
Het |
| Lyrm1 |
A |
G |
7: 119,509,090 (GRCm39) |
K22E |
possibly damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,339,897 (GRCm39) |
D967G |
probably benign |
Het |
| Nr6a1 |
C |
T |
2: 38,630,485 (GRCm39) |
R259Q |
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,687,929 (GRCm39) |
N20D |
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,167,446 (GRCm39) |
I48M |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,670,698 (GRCm39) |
V276F |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,812 (GRCm39) |
I92N |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,664 (GRCm39) |
I348K |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,957,134 (GRCm39) |
A1078T |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,487,049 (GRCm39) |
V560A |
probably benign |
Het |
| Slc27a4 |
A |
G |
2: 29,701,608 (GRCm39) |
I409V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,809,017 (GRCm39) |
|
probably null |
Het |
| Spon1 |
A |
G |
7: 113,632,311 (GRCm39) |
T545A |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,877,722 (GRCm39) |
S772P |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,645,304 (GRCm39) |
S719T |
probably benign |
Het |
| Syne1 |
A |
G |
10: 4,980,394 (GRCm39) |
V864A |
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,180,579 (GRCm39) |
S836G |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,439,577 (GRCm39) |
E298* |
probably null |
Het |
| Tmem52 |
A |
G |
4: 155,554,615 (GRCm39) |
T114A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,811 (GRCm39) |
K6871R |
unknown |
Het |
| Ttn |
C |
A |
2: 76,715,468 (GRCm39) |
|
probably null |
Het |
| Ube2d1 |
T |
C |
10: 71,098,094 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,838,824 (GRCm39) |
T676A |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,878,838 (GRCm39) |
D1029E |
unknown |
Het |
| Vps13a |
A |
T |
19: 16,719,908 (GRCm39) |
Y417N |
possibly damaging |
Het |
| Zfp729a |
C |
T |
13: 67,767,673 (GRCm39) |
C852Y |
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 |
|
R9587:Trim36
|
UTSW |
18 |
46,308,722 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- GAATCTATCGATAAGCTCTCCCTCC -3'
(R):5'- GCTGGGAAGTTCACACTTTAAGG -3'
Sequencing Primer
(F):5'- GATAAGCTCTCCCTCCCCACC -3'
(R):5'- GAAGTTCACACTTTAAGGTCTGTTTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation