Incidental Mutation 'R5631:Trim34a'
| ID |
439853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim34a
|
| Ensembl Gene |
ENSMUSG00000056144 |
| Gene Name |
tripartite motif-containing 34A |
| Synonyms |
Trim34-1, Trim34 |
| MMRRC Submission |
043282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5631 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103893664-103911441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103897946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 158
(E158V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060315]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060315
AA Change: E158V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: E158V
| 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 damaging
Transcript: ENSMUST00000106848
AA Change: E158V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: E158V
| 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: E158V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: E158V
| 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: ENSMUST00000106854
AA Change: E158V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102467
Gene: ENSMUSG00000056144
AA Change: E158V
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143414
AA Change: E158V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125728
Gene: ENSMUSG00000056144
AA Change: E158V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
A |
11: 72,067,590 (GRCm39) |
V567L |
possibly damaging |
Het |
| Abraxas1 |
T |
G |
5: 100,965,840 (GRCm39) |
Y68S |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,195,160 (GRCm39) |
Q543* |
probably null |
Het |
| Anapc1 |
T |
C |
2: 128,499,137 (GRCm39) |
Y845C |
possibly damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,173,051 (GRCm39) |
*98W |
probably null |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,204,577 (GRCm39) |
T275S |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,832,898 (GRCm39) |
S1038G |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,160,617 (GRCm39) |
V1397A |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,629,355 (GRCm39) |
T2203A |
probably damaging |
Het |
| Gm57858 |
G |
C |
3: 36,101,026 (GRCm39) |
Q49E |
probably damaging |
Het |
| Heatr5a |
T |
A |
12: 52,002,310 (GRCm39) |
I209F |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
| Hpx |
A |
T |
7: 105,244,808 (GRCm39) |
C126S |
probably damaging |
Het |
| Ipo4 |
A |
G |
14: 55,869,526 (GRCm39) |
V378A |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,870,838 (GRCm39) |
V265I |
probably benign |
Het |
| Kcnv1 |
T |
A |
15: 44,972,753 (GRCm39) |
T377S |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,731,985 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
T |
C |
2: 101,900,301 (GRCm39) |
D67G |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,646,456 (GRCm39) |
M535L |
probably benign |
Het |
| Mfhas1 |
G |
A |
8: 36,055,573 (GRCm39) |
R16Q |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,333,383 (GRCm39) |
K1355* |
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,862,283 (GRCm39) |
I282V |
probably benign |
Het |
| Mvb12b |
G |
T |
2: 33,717,715 (GRCm39) |
P142Q |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,855,041 (GRCm39) |
D27G |
possibly damaging |
Het |
| Nrap |
T |
G |
19: 56,342,553 (GRCm39) |
E780A |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,189,441 (GRCm39) |
I228V |
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,475,952 (GRCm39) |
S172T |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,704,638 (GRCm39) |
M433V |
probably benign |
Het |
| Polr3h |
T |
A |
15: 81,810,113 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
C |
6: 146,898,358 (GRCm39) |
Y105H |
probably damaging |
Het |
| Rplp2 |
A |
C |
7: 141,031,172 (GRCm39) |
|
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,808,345 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
A |
T |
8: 95,355,706 (GRCm39) |
M1L |
possibly damaging |
Het |
| Runx1 |
C |
A |
16: 92,492,451 (GRCm39) |
R64L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc9a5 |
C |
T |
8: 106,076,141 (GRCm39) |
H45Y |
possibly damaging |
Het |
| Smc4 |
T |
C |
3: 68,937,645 (GRCm39) |
I890T |
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,649,098 (GRCm39) |
E52G |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,294,139 (GRCm39) |
I319N |
probably damaging |
Het |
| Stt3b |
G |
A |
9: 115,083,913 (GRCm39) |
T421I |
probably benign |
Het |
| Thumpd1 |
A |
G |
7: 119,319,825 (GRCm39) |
L47P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,409,882 (GRCm38) |
Y850H |
probably damaging |
Het |
| Trp53i13 |
C |
A |
11: 77,400,419 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
T |
C |
15: 9,361,971 (GRCm39) |
V249A |
probably damaging |
Het |
| Vmn1r128 |
G |
A |
7: 21,083,300 (GRCm39) |
M1I |
probably null |
Het |
| Yars1 |
T |
G |
4: 129,103,542 (GRCm39) |
L297R |
probably damaging |
Het |
| Yju2b |
G |
T |
8: 84,990,510 (GRCm39) |
Q41K |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,578,703 (GRCm39) |
L176P |
probably 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 |
|
R5902:Trim34a
|
UTSW |
7 |
103,910,328 (GRCm39) |
nonsense |
probably null |
|
|
R6147:Trim34a
|
UTSW |
7 |
103,910,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6644:Trim34a
|
UTSW |
7 |
103,910,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGATCAAGAATGCATTCATCCACC -3'
(R):5'- TTACAACGATATGCTCCCATCC -3'
Sequencing Primer
(F):5'- AGAATGCATTCATCCACCTCCTTAG -3'
(R):5'- TCCCTCAACCATAAAATGTAACTTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation