Incidental Mutation 'R2391:Trim12a'
| ID |
247762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim12a
|
| Ensembl Gene |
ENSMUSG00000066258 |
| Gene Name |
tripartite motif-containing 12A |
| Synonyms |
Trim12, 2310043C01Rik |
| MMRRC Submission |
040359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2391 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103949101-103964673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103956138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 134
(E134G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070943]
[ENSMUST00000106837]
[ENSMUST00000106839]
|
| AlphaFold |
Q99PQ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070943
AA Change: E134G
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000065008
Gene: ENSMUSG00000066258
AA Change: E134G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
7.8e-7 |
SMART |
|
BBOX
|
91 |
132 |
9.01e-12 |
SMART |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106837
AA Change: E134G
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102450
Gene: ENSMUSG00000066258
AA Change: E134G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
7.8e-7 |
SMART |
|
BBOX
|
91 |
132 |
9.01e-12 |
SMART |
|
coiled coil region
|
140 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106839
AA Change: E134G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102452
Gene: ENSMUSG00000066258
AA Change: E134G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
7.8e-7 |
SMART |
|
BBOX
|
91 |
132 |
9.01e-12 |
SMART |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134564
|
| Meta Mutation Damage Score |
0.6793 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
A |
7: 115,703,461 (GRCm39) |
D24E |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,952,071 (GRCm39) |
H689R |
probably benign |
Het |
| Acss3 |
T |
G |
10: 106,959,348 (GRCm39) |
T33P |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,898 (GRCm39) |
Y124* |
probably null |
Het |
| Capn2 |
T |
C |
1: 182,306,174 (GRCm39) |
D524G |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,590,965 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Cdk18 |
G |
T |
1: 132,043,212 (GRCm39) |
Q438K |
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,484 (GRCm39) |
V15E |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,416,214 (GRCm39) |
M1047V |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,708,198 (GRCm39) |
I1306N |
probably damaging |
Het |
| Emp2 |
A |
T |
16: 10,102,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Gm2888 |
A |
T |
14: 3,037,656 (GRCm38) |
D216V |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,607,489 (GRCm39) |
H287L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 103,810,041 (GRCm39) |
S107P |
probably benign |
Het |
| Or10q3 |
G |
T |
19: 11,848,180 (GRCm39) |
Y133* |
probably null |
Het |
| Or51e2 |
C |
A |
7: 102,391,581 (GRCm39) |
V210F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,664 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn2 |
A |
T |
18: 67,808,959 (GRCm39) |
|
probably null |
Het |
| Serpinb8 |
A |
G |
1: 107,534,799 (GRCm39) |
D290G |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,450,504 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Slc6a20a |
A |
T |
9: 123,493,686 (GRCm39) |
V65E |
probably damaging |
Het |
| Spon1 |
C |
T |
7: 113,486,080 (GRCm39) |
T210M |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,512,061 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
C |
A |
6: 42,377,810 (GRCm39) |
H213Q |
probably damaging |
Het |
| Terf1 |
C |
A |
1: 15,875,963 (GRCm39) |
S21* |
probably null |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,751 (GRCm39) |
Y45C |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,966,770 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,884,764 (GRCm39) |
M46K |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
| Znhit6 |
T |
C |
3: 145,300,413 (GRCm39) |
S230P |
probably damaging |
Het |
|
| Other mutations in Trim12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Trim12a
|
APN |
7 |
103,956,202 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01866:Trim12a
|
APN |
7 |
103,953,360 (GRCm39) |
splice site |
probably benign |
|
|
IGL02522:Trim12a
|
APN |
7 |
103,950,038 (GRCm39) |
splice site |
probably null |
|
|
R0900:Trim12a
|
UTSW |
7 |
103,953,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1673:Trim12a
|
UTSW |
7 |
103,955,264 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1856:Trim12a
|
UTSW |
7 |
103,950,064 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1928:Trim12a
|
UTSW |
7 |
103,956,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Trim12a
|
UTSW |
7 |
103,953,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3124:Trim12a
|
UTSW |
7 |
103,950,063 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3808:Trim12a
|
UTSW |
7 |
103,956,201 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4409:Trim12a
|
UTSW |
7 |
103,956,201 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4951:Trim12a
|
UTSW |
7 |
103,953,565 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5325:Trim12a
|
UTSW |
7 |
103,953,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Trim12a
|
UTSW |
7 |
103,956,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Trim12a
|
UTSW |
7 |
103,955,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7002:Trim12a
|
UTSW |
7 |
103,953,383 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7443:Trim12a
|
UTSW |
7 |
103,950,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7980:Trim12a
|
UTSW |
7 |
103,953,335 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8284:Trim12a
|
UTSW |
7 |
103,955,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Trim12a
|
UTSW |
7 |
103,953,544 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8509:Trim12a
|
UTSW |
7 |
103,955,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8995:Trim12a
|
UTSW |
7 |
103,953,532 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9509:Trim12a
|
UTSW |
7 |
103,953,551 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTAGAGTTTGTCGCCCC -3'
(R):5'- GAGAGGCTCAAAATGTTCAAGC -3'
Sequencing Primer
(F):5'- GGATTAAGCTCAATGGATAGTCCC -3'
(R):5'- TGTTCAAGCCCAGCCCAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation