Incidental Mutation 'R9763:Trim36'
| ID |
735846 |
| 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? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R9763 (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 46309125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 312
(D312Y)
|
| 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: D312Y
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: D312Y
| 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: D300Y
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: D300Y
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,302,717 (GRCm39) |
D2167E |
possibly damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,327 (GRCm39) |
Y420N |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,014,126 (GRCm39) |
L176Q |
probably damaging |
Het |
| Amdhd1 |
T |
A |
10: 93,367,398 (GRCm39) |
K252M |
possibly damaging |
Het |
| Aspa |
C |
A |
11: 73,213,094 (GRCm39) |
E83* |
probably null |
Het |
| Atat1 |
A |
G |
17: 36,220,899 (GRCm39) |
L10P |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,869,919 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdkal1 |
A |
T |
13: 29,809,692 (GRCm39) |
C217* |
probably null |
Het |
| Cttnbp2 |
C |
T |
6: 18,435,240 (GRCm39) |
S206N |
probably benign |
Het |
| Dner |
A |
T |
1: 84,361,656 (GRCm39) |
I651N |
possibly damaging |
Het |
| Efcab3 |
G |
A |
11: 104,890,485 (GRCm39) |
G4189E |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 63,982,438 (GRCm39) |
V91A |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,805,421 (GRCm39) |
D404G |
probably damaging |
Het |
| Gm13941 |
A |
G |
2: 110,931,518 (GRCm39) |
L38S |
unknown |
Het |
| Golph3l |
G |
A |
3: 95,517,085 (GRCm39) |
E198K |
possibly damaging |
Het |
| Hecw2 |
A |
C |
1: 53,963,074 (GRCm39) |
D812E |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,587,835 (GRCm39) |
E212V |
possibly damaging |
Het |
| Il6st |
C |
T |
13: 112,627,051 (GRCm39) |
S281F |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
T |
G |
15: 101,646,757 (GRCm39) |
K317T |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,760,020 (GRCm39) |
F72S |
probably damaging |
Het |
| Map3k1 |
C |
T |
13: 111,912,499 (GRCm39) |
R174H |
probably damaging |
Het |
| Marveld3 |
T |
A |
8: 110,688,375 (GRCm39) |
H122L |
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,174 (GRCm39) |
S184P |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,699,482 (GRCm39) |
G282* |
probably null |
Het |
| Myo16 |
T |
A |
8: 10,450,528 (GRCm39) |
M510K |
unknown |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Or10a3 |
T |
A |
7: 108,480,874 (GRCm39) |
|
probably benign |
Het |
| Or10a3n |
T |
G |
7: 108,493,210 (GRCm39) |
I140L |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,238,041 (GRCm39) |
Y3C |
probably damaging |
Het |
| Or4e5 |
T |
G |
14: 52,728,307 (GRCm39) |
Y38S |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,181 (GRCm39) |
M305K |
probably benign |
Het |
| Or9g20 |
T |
G |
2: 85,630,060 (GRCm39) |
N185H |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,376 (GRCm39) |
Y843H |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,903,867 (GRCm39) |
V242A |
possibly damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,865,261 (GRCm39) |
M717L |
probably benign |
Het |
| Rnf150 |
T |
C |
8: 83,732,968 (GRCm39) |
S272P |
probably benign |
Het |
| Rtraf |
A |
G |
14: 19,866,314 (GRCm39) |
V134A |
probably damaging |
Het |
| Rubcnl |
T |
A |
14: 75,287,108 (GRCm39) |
L592* |
probably null |
Het |
| Slc23a1 |
A |
G |
18: 35,755,364 (GRCm39) |
S484P |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,204,118 (GRCm39) |
Y68H |
probably damaging |
Het |
| Speer4b |
C |
A |
5: 27,705,206 (GRCm39) |
V56L |
probably damaging |
Het |
| Sycp2l |
T |
A |
13: 41,306,232 (GRCm39) |
S84T |
|
Het |
| Syne1 |
T |
C |
10: 5,007,858 (GRCm39) |
D122G |
probably benign |
Het |
| Timd2 |
G |
T |
11: 46,573,540 (GRCm39) |
P155T |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,223,923 (GRCm39) |
R1401Q |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,818,860 (GRCm39) |
T1094A |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,186,988 (GRCm39) |
Y465N |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,531 (GRCm39) |
L530P |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,425,965 (GRCm39) |
T100S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCGGAGGTTTTCAGAAGC -3'
(R):5'- GAAGACCTCGATGGGGTTTCTG -3'
Sequencing Primer
(F):5'- ACCTGAGATGGAGCTGCTTC -3'
(R):5'- CTGGCTAAGATAATGCGTGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation