Incidental Mutation 'R6644:Trim34a'
| ID |
526001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim34a
|
| Ensembl Gene |
ENSMUSG00000056144 |
| Gene Name |
tripartite motif-containing 34A |
| Synonyms |
Trim34-1, Trim34 |
| MMRRC Submission |
044765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6644 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103910244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 349
(Y349H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051795]
[ENSMUST00000060315]
[ENSMUST00000098179]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051795
|
| SMART Domains |
Protein: ENSMUSP00000050084
Gene: ENSMUSG00000060441
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
3.64e-7 |
SMART |
|
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
|
coiled coil region
|
172 |
232 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
349 |
485 |
9.2e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060315
AA Change: Y349H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: Y349H
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
6.79e-7 |
SMART |
|
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
|
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
|
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
|
Pfam:SPRY
|
347 |
474 |
1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098179
|
| SMART Domains |
Protein: ENSMUSP00000095781
Gene: ENSMUSG00000060441
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
3.64e-7 |
SMART |
|
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
|
Pfam:SPRY
|
351 |
493 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106848
AA Change: Y349H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: Y349H
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
6.79e-7 |
SMART |
|
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
|
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
|
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
|
Pfam:SPRY
|
345 |
484 |
6.5e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106849
AA Change: Y349H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: Y349H
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
6.79e-7 |
SMART |
|
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
|
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
|
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
|
Pfam:SPRY
|
345 |
484 |
6.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217156
|
| Meta Mutation Damage Score |
0.8011 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
C |
T |
10: 79,844,598 (GRCm39) |
P1461L |
probably damaging |
Het |
| Abhd14a |
T |
C |
9: 106,321,472 (GRCm39) |
Y10C |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,816,671 (GRCm39) |
V772M |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,059,077 (GRCm39) |
M2487V |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,007,662 (GRCm39) |
|
probably null |
Het |
| Cabp7 |
C |
T |
11: 4,690,396 (GRCm39) |
V76I |
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,487,399 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cdk18 |
G |
A |
1: 132,049,807 (GRCm39) |
Q58* |
probably null |
Het |
| Cryba4 |
T |
C |
5: 112,394,628 (GRCm39) |
D167G |
probably damaging |
Het |
| Czib |
T |
G |
4: 107,752,119 (GRCm39) |
I130S |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,373,428 (GRCm39) |
N588S |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,147,737 (GRCm39) |
I343V |
probably benign |
Het |
| Eif1ad16 |
A |
G |
12: 87,985,460 (GRCm39) |
F28L |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxw17 |
G |
A |
13: 50,577,255 (GRCm39) |
R49Q |
probably damaging |
Het |
| Garin2 |
T |
A |
12: 78,762,060 (GRCm39) |
D241E |
probably damaging |
Het |
| Gm10332 |
T |
A |
14: 55,057,616 (GRCm39) |
F59I |
probably damaging |
Het |
| Gnai3 |
A |
G |
3: 108,030,852 (GRCm39) |
|
probably null |
Het |
| Helz |
T |
A |
11: 107,523,087 (GRCm39) |
M75K |
possibly damaging |
Het |
| Hnrnph3 |
C |
T |
10: 62,854,672 (GRCm39) |
|
probably benign |
Het |
| Ifi211 |
C |
T |
1: 173,733,118 (GRCm39) |
C181Y |
probably benign |
Het |
| Immp1l |
A |
G |
2: 105,767,390 (GRCm39) |
K83R |
probably damaging |
Het |
| Itga6 |
G |
A |
2: 71,671,468 (GRCm39) |
G740R |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,354 (GRCm39) |
T134A |
probably benign |
Het |
| Klhl7 |
A |
G |
5: 24,354,244 (GRCm39) |
D353G |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,888,983 (GRCm39) |
S1325P |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,451,297 (GRCm39) |
|
probably null |
Het |
| Meioc |
G |
A |
11: 102,559,286 (GRCm39) |
|
probably null |
Het |
| Mfap5 |
T |
C |
6: 122,497,555 (GRCm39) |
F26L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,054,249 (GRCm39) |
T386A |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,164,013 (GRCm39) |
L1266Q |
probably damaging |
Het |
| Npc1l1 |
G |
T |
11: 6,164,014 (GRCm39) |
L1266M |
probably damaging |
Het |
| Or4c116 |
A |
G |
2: 88,942,325 (GRCm39) |
M177T |
probably benign |
Het |
| Or51aa2 |
C |
A |
7: 103,188,265 (GRCm39) |
V59F |
possibly damaging |
Het |
| Pbld1 |
T |
A |
10: 62,910,842 (GRCm39) |
S233T |
probably damaging |
Het |
| Phf12 |
A |
G |
11: 77,916,918 (GRCm39) |
*789W |
probably null |
Het |
| Sf3b2 |
A |
T |
19: 5,329,992 (GRCm39) |
|
probably null |
Het |
| Slc23a3 |
A |
G |
1: 75,105,191 (GRCm39) |
I459T |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,856,071 (GRCm39) |
T570A |
possibly damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,526,253 (GRCm39) |
M837L |
probably benign |
Het |
| Stx5a |
A |
T |
19: 8,732,612 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,137,385 (GRCm39) |
V719A |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,193,902 (GRCm39) |
I642K |
possibly damaging |
Het |
| Uba7 |
A |
G |
9: 107,858,671 (GRCm39) |
Y834C |
possibly damaging |
Het |
| Ube2d1 |
A |
G |
10: 71,092,530 (GRCm39) |
S105P |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,722,283 (GRCm39) |
V343A |
possibly damaging |
Het |
| Zbtb37 |
G |
A |
1: 160,859,643 (GRCm39) |
Q221* |
probably null |
Het |
| Zfp119b |
T |
C |
17: 56,246,148 (GRCm39) |
N346S |
probably benign |
Het |
| Zfp708 |
G |
T |
13: 67,218,785 (GRCm39) |
T358K |
possibly damaging |
Het |
|
| Other mutations in Trim34a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Trim34a
|
APN |
7 |
103,910,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00826:Trim34a
|
APN |
7 |
103,910,140 (GRCm39) |
splice site |
probably null |
|
|
IGL01526:Trim34a
|
APN |
7 |
103,909,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Trim34a
|
APN |
7 |
103,910,149 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02052:Trim34a
|
APN |
7 |
103,897,038 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02192:Trim34a
|
APN |
7 |
103,896,939 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02351:Trim34a
|
APN |
7 |
103,910,441 (GRCm39) |
nonsense |
probably null |
|
|
IGL02358:Trim34a
|
APN |
7 |
103,910,441 (GRCm39) |
nonsense |
probably null |
|
|
IGL03326:Trim34a
|
APN |
7 |
103,910,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03366:Trim34a
|
APN |
7 |
103,910,140 (GRCm39) |
splice site |
probably null |
|
|
Gold_belt
|
UTSW |
7 |
103,910,271 (GRCm39) |
nonsense |
probably null |
|
|
PIT4472001:Trim34a
|
UTSW |
7 |
103,897,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Trim34a
|
UTSW |
7 |
103,909,691 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0115:Trim34a
|
UTSW |
7 |
103,897,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Trim34a
|
UTSW |
7 |
103,910,331 (GRCm39) |
missense |
probably benign |
|
|
R1016:Trim34a
|
UTSW |
7 |
103,897,167 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1477:Trim34a
|
UTSW |
7 |
103,897,287 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1622:Trim34a
|
UTSW |
7 |
103,910,545 (GRCm39) |
splice site |
probably null |
|
|
R2287:Trim34a
|
UTSW |
7 |
103,910,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3685:Trim34a
|
UTSW |
7 |
103,909,333 (GRCm39) |
splice site |
probably null |
|
|
R4166:Trim34a
|
UTSW |
7 |
103,910,223 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4967:Trim34a
|
UTSW |
7 |
103,910,271 (GRCm39) |
nonsense |
probably null |
|
|
R4979:Trim34a
|
UTSW |
7 |
103,897,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5194:Trim34a
|
UTSW |
7 |
103,910,200 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5443:Trim34a
|
UTSW |
7 |
103,909,420 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5631:Trim34a
|
UTSW |
7 |
103,897,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Trim34a
|
UTSW |
7 |
103,910,328 (GRCm39) |
nonsense |
probably null |
|
|
R6147:Trim34a
|
UTSW |
7 |
103,910,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7971:Trim34a
|
UTSW |
7 |
103,897,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8060:Trim34a
|
UTSW |
7 |
103,910,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Trim34a
|
UTSW |
7 |
103,898,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8356:Trim34a
|
UTSW |
7 |
103,910,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9275:Trim34a
|
UTSW |
7 |
103,910,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9563:Trim34a
|
UTSW |
7 |
103,910,328 (GRCm39) |
nonsense |
probably null |
|
|
X0023:Trim34a
|
UTSW |
7 |
103,908,622 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAGTGTTGGCTTTTCACAG -3'
(R):5'- ACTTCGATCCATGCTGTAACCC -3'
Sequencing Primer
(F):5'- GGCTTTTCACAGTGTTTCACAAAC -3'
(R):5'- TGCTGTAACCCTATAACCCAGTAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation