Incidental Mutation 'R0900:Trim12a'
| ID |
83836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim12a
|
| Ensembl Gene |
ENSMUSG00000066258 |
| Gene Name |
tripartite motif-containing 12A |
| Synonyms |
Trim12, 2310043C01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0900 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103949101-103964673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103953469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 214
(N214S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070943]
[ENSMUST00000106837]
[ENSMUST00000106839]
|
| AlphaFold |
Q99PQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070943
AA Change: N214S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065008
Gene: ENSMUSG00000066258
AA Change: N214S
| 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 |
probably benign
Transcript: ENSMUST00000106837
AA Change: N182S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102450
Gene: ENSMUSG00000066258
AA Change: N182S
| 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 benign
Transcript: ENSMUST00000106839
AA Change: N214S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102452
Gene: ENSMUSG00000066258
AA Change: N214S
| 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: ENSMUST00000142641
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,904,359 (GRCm39) |
F144I |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,719,496 (GRCm39) |
R468G |
possibly damaging |
Het |
| Arsk |
C |
A |
13: 76,246,576 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,833,039 (GRCm39) |
H912R |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,764,371 (GRCm39) |
V53D |
possibly damaging |
Het |
| Cfap91 |
G |
A |
16: 38,156,764 (GRCm39) |
S47L |
possibly damaging |
Het |
| Clec2d |
G |
A |
6: 129,160,076 (GRCm39) |
R30K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,591,535 (GRCm39) |
V975A |
possibly damaging |
Het |
| Col4a1 |
AGCCAGGGATGCCAGG |
AGCCAGG |
8: 11,268,014 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
C |
17: 46,969,263 (GRCm39) |
S907P |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,498,794 (GRCm39) |
H159L |
possibly damaging |
Het |
| Dhx57 |
T |
C |
17: 80,583,011 (GRCm39) |
H198R |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,246,311 (GRCm39) |
D10G |
probably damaging |
Het |
| Esp18 |
G |
A |
17: 39,719,023 (GRCm39) |
M7I |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam167a |
A |
G |
14: 63,689,828 (GRCm39) |
T42A |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,605,827 (GRCm39) |
R553G |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
| Jag1 |
CTTT |
CTTTT |
2: 136,932,802 (GRCm39) |
|
probably null |
Het |
| Limk2 |
A |
G |
11: 3,300,731 (GRCm39) |
F204L |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,124,624 (GRCm39) |
D361G |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,711,252 (GRCm39) |
F21Y |
probably benign |
Het |
| Pcna-ps2 |
T |
A |
19: 9,261,487 (GRCm39) |
Y249N |
probably damaging |
Het |
| Prkce |
A |
T |
17: 86,932,886 (GRCm39) |
D622V |
probably damaging |
Het |
| Prss47 |
A |
C |
13: 65,197,208 (GRCm39) |
V176G |
possibly damaging |
Het |
| Prss55 |
C |
T |
14: 64,314,627 (GRCm39) |
R181H |
probably benign |
Het |
| Prtg |
A |
T |
9: 72,752,225 (GRCm39) |
I204L |
probably benign |
Het |
| Pura |
T |
C |
18: 36,420,720 (GRCm39) |
I169T |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,119,815 (GRCm39) |
T1750I |
probably benign |
Het |
| Slc25a26 |
T |
A |
6: 94,484,639 (GRCm39) |
S60T |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,682,804 (GRCm39) |
C614S |
probably benign |
Het |
| Ube3c |
T |
C |
5: 29,806,344 (GRCm39) |
Y329H |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,952,257 (GRCm39) |
K2E |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,710,757 (GRCm39) |
E2675D |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,321 (GRCm39) |
P267L |
probably benign |
Het |
| Vmn1r129 |
A |
T |
7: 21,094,635 (GRCm39) |
Y194* |
probably null |
Het |
| Zfp750 |
T |
C |
11: 121,403,807 (GRCm39) |
E356G |
probably benign |
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 |
|
|
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 |
|
R2391:Trim12a
|
UTSW |
7 |
103,956,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CATTCCAGCCTCTGAAACCGAGTC -3'
(R):5'- ACAATTCACACGCAGCAAGTTTTGAC -3'
Sequencing Primer
(F):5'- GCTCACTGTCATCACCAGG -3'
(R):5'- TGACAAACTTAATGGCTCTCCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation