Incidental Mutation 'R1397:Trim42'
| ID |
160189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim42
|
| Ensembl Gene |
ENSMUSG00000032451 |
| Gene Name |
tripartite motif-containing 42 |
| Synonyms |
4930486B16Rik |
| MMRRC Submission |
039459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1397 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
97231615-97252011 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97247674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 341
(I341F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035026]
|
| AlphaFold |
Q9D2H5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035026
AA Change: I341F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035026
Gene: ENSMUSG00000032451
AA Change: I341F
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
146 |
191 |
3.67e-3 |
SMART |
|
BBOX
|
233 |
280 |
1.42e0 |
SMART |
|
BBOX
|
285 |
326 |
1.04e-2 |
SMART |
|
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
|
FN3
|
603 |
688 |
2.44e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127307
|
| Meta Mutation Damage Score |
0.1500 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,504,733 (GRCm39) |
E1222G |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,220,440 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,271,754 (GRCm39) |
G827D |
probably damaging |
Het |
| Chrac1 |
A |
G |
15: 72,962,293 (GRCm39) |
D3G |
possibly damaging |
Het |
| Dmrtb1 |
G |
C |
4: 107,534,236 (GRCm39) |
P349R |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,573 (GRCm39) |
Y207H |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,569,343 (GRCm39) |
|
probably null |
Het |
| Fam13b |
C |
T |
18: 34,578,636 (GRCm39) |
M705I |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,651,862 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,245,618 (GRCm39) |
D569V |
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,083,464 (GRCm39) |
L189Q |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,764,123 (GRCm39) |
F368S |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,274 (GRCm39) |
S130P |
probably benign |
Het |
| Nid1 |
G |
A |
13: 13,683,380 (GRCm39) |
A1153T |
possibly damaging |
Het |
| Nr2c2 |
T |
C |
6: 92,126,745 (GRCm39) |
I78T |
probably benign |
Het |
| Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
| Pate2 |
T |
A |
9: 35,580,991 (GRCm39) |
F2I |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,585,496 (GRCm39) |
S18P |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
| Rabl3 |
C |
T |
16: 37,360,336 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,155,753 (GRCm39) |
V66I |
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,325,308 (GRCm39) |
G367E |
probably benign |
Het |
| Rnpepl1 |
C |
A |
1: 92,844,881 (GRCm39) |
T391N |
probably damaging |
Het |
| Rnps1 |
C |
T |
17: 24,631,031 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Slc25a48 |
A |
C |
13: 56,612,864 (GRCm39) |
D254A |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,852,853 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
C |
4: 135,048,742 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,523 (GRCm39) |
V247A |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,857,901 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,750 (GRCm39) |
|
probably benign |
Het |
| Trim55 |
T |
C |
3: 19,698,801 (GRCm39) |
F10S |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,867,406 (GRCm39) |
W369R |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,867,904 (GRCm39) |
R1976H |
probably damaging |
Het |
|
| Other mutations in Trim42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02289:Trim42
|
APN |
9 |
97,241,286 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02987:Trim42
|
APN |
9 |
97,247,868 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0116:Trim42
|
UTSW |
9 |
97,245,456 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0791:Trim42
|
UTSW |
9 |
97,247,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Trim42
|
UTSW |
9 |
97,245,673 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1499:Trim42
|
UTSW |
9 |
97,248,138 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1522:Trim42
|
UTSW |
9 |
97,247,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2094:Trim42
|
UTSW |
9 |
97,248,150 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2355:Trim42
|
UTSW |
9 |
97,241,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4621:Trim42
|
UTSW |
9 |
97,245,201 (GRCm39) |
missense |
probably benign |
|
|
R4649:Trim42
|
UTSW |
9 |
97,244,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4840:Trim42
|
UTSW |
9 |
97,244,982 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6147:Trim42
|
UTSW |
9 |
97,245,382 (GRCm39) |
missense |
probably benign |
|
|
R7048:Trim42
|
UTSW |
9 |
97,245,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Trim42
|
UTSW |
9 |
97,251,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7276:Trim42
|
UTSW |
9 |
97,251,625 (GRCm39) |
nonsense |
probably null |
|
|
R7390:Trim42
|
UTSW |
9 |
97,241,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Trim42
|
UTSW |
9 |
97,244,998 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7650:Trim42
|
UTSW |
9 |
97,245,201 (GRCm39) |
missense |
probably benign |
|
|
R7881:Trim42
|
UTSW |
9 |
97,245,070 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8060:Trim42
|
UTSW |
9 |
97,245,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Trim42
|
UTSW |
9 |
97,245,174 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8751:Trim42
|
UTSW |
9 |
97,251,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8850:Trim42
|
UTSW |
9 |
97,248,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Trim42
|
UTSW |
9 |
97,245,275 (GRCm39) |
nonsense |
probably null |
|
|
R8941:Trim42
|
UTSW |
9 |
97,245,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9329:Trim42
|
UTSW |
9 |
97,251,584 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9427:Trim42
|
UTSW |
9 |
97,247,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9792:Trim42
|
UTSW |
9 |
97,245,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Trim42
|
UTSW |
9 |
97,245,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Trim42
|
UTSW |
9 |
97,251,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Trim42
|
UTSW |
9 |
97,244,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCGGGATGTGACTGGAGAAAAC -3'
(R):5'- ACCTGTGCAACGACTGTCTCAAG -3'
Sequencing Primer
(F):5'- ctcctcttatcctcaccaacc -3'
(R):5'- ATGCAGGACCACGTCTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation