Incidental Mutation 'R6619:Trim36'
| ID |
524321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim36
|
| Ensembl Gene |
ENSMUSG00000033949 |
| Gene Name |
tripartite motif-containing 36 |
| Synonyms |
Haprin, D18Wsu100e |
| MMRRC Submission |
044742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R6619 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
46298367-46345674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46321475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 191
(T191A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037011]
[ENSMUST00000167364]
|
| AlphaFold |
Q80WG7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037011
AA Change: T203A
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: T203A
| 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: T191A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: T191A
| 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 |
|
| Meta Mutation Damage Score |
0.0721 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
G |
A |
16: 29,167,833 (GRCm39) |
P109S |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,222,916 (GRCm39) |
K106R |
probably benign |
Het |
| Coro6 |
A |
G |
11: 77,357,030 (GRCm39) |
I111V |
possibly damaging |
Het |
| Crocc2 |
A |
G |
1: 93,118,223 (GRCm39) |
E382G |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,724 (GRCm39) |
N44K |
possibly damaging |
Het |
| Dnah5 |
C |
A |
15: 28,409,266 (GRCm39) |
N3561K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,335 (GRCm39) |
E879D |
probably benign |
Het |
| Frk |
A |
G |
10: 34,481,835 (GRCm39) |
Y375C |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,717,840 (GRCm39) |
R61* |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,027,872 (GRCm39) |
D146G |
probably damaging |
Het |
| Lancl2 |
C |
A |
6: 57,699,566 (GRCm39) |
T127K |
probably damaging |
Het |
| Large1 |
G |
A |
8: 73,609,892 (GRCm39) |
Q359* |
probably null |
Het |
| Mast2 |
C |
A |
4: 116,173,694 (GRCm39) |
E521* |
probably null |
Het |
| Mrc1 |
T |
A |
2: 14,299,597 (GRCm39) |
|
probably null |
Het |
| Obi1 |
T |
C |
14: 104,759,993 (GRCm39) |
H19R |
possibly damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,727 (GRCm39) |
I92T |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,425 (GRCm39) |
N266S |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,929,323 (GRCm39) |
D173E |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,406 (GRCm39) |
Y132C |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,023,154 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,842,702 (GRCm39) |
D807E |
probably benign |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,737 (GRCm39) |
N377K |
probably damaging |
Het |
| Phf13 |
T |
A |
4: 152,076,114 (GRCm39) |
N263Y |
probably damaging |
Het |
| Rab19 |
T |
A |
6: 39,365,060 (GRCm39) |
S107T |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,165,027 (GRCm39) |
F380I |
probably damaging |
Het |
| Reep1 |
T |
C |
6: 71,784,826 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1l |
C |
T |
8: 91,959,499 (GRCm39) |
E1134K |
possibly damaging |
Het |
| Serpina3m |
A |
T |
12: 104,357,766 (GRCm39) |
Y230F |
probably benign |
Het |
| Skint3 |
T |
C |
4: 112,111,061 (GRCm39) |
I62T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,823,279 (GRCm39) |
|
probably null |
Het |
| Sp4 |
G |
A |
12: 118,263,077 (GRCm39) |
T323I |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,913 (GRCm39) |
I1378T |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,986,428 (GRCm39) |
G128D |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 71,996,266 (GRCm39) |
N89D |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,077,980 (GRCm39) |
|
probably null |
Het |
| Zfp418 |
G |
A |
7: 7,184,895 (GRCm39) |
C286Y |
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 |
|
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 |
|
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'- TCAGAGATCATAGGACATGAAGTTC -3'
(R):5'- ATTGTCGAGAGATACCGGCAGG -3'
Sequencing Primer
(F):5'- GCTTTAAAGTACTGGGCTGT -3'
(R):5'- GTGCAAGCTACTGCAATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation