Incidental Mutation 'R4180:Tc2n'
| ID |
319697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tc2n
|
| Ensembl Gene |
ENSMUSG00000021187 |
| Gene Name |
tandem C2 domains, nuclear |
| Synonyms |
4933406D09Rik, Mtac2d1, Tac2-N |
| MMRRC Submission |
041016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101611702-101684782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101631954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 301
(L301P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110047]
[ENSMUST00000160715]
[ENSMUST00000160830]
[ENSMUST00000162735]
|
| AlphaFold |
Q91XT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110047
AA Change: L301P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105674
Gene: ENSMUSG00000021187
AA Change: L301P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
210 |
N/A |
INTRINSIC |
|
C2
|
238 |
339 |
5.56e0 |
SMART |
|
C2
|
366 |
472 |
1.02e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160715
|
| SMART Domains |
Protein: ENSMUSP00000125099
Gene: ENSMUSG00000021187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
210 |
N/A |
INTRINSIC |
|
Blast:C2
|
238 |
287 |
1e-24 |
BLAST |
|
C2
|
302 |
408 |
1.02e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160830
AA Change: L301P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124287
Gene: ENSMUSG00000021187
AA Change: L301P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
210 |
N/A |
INTRINSIC |
|
C2
|
238 |
339 |
5.56e0 |
SMART |
|
C2
|
366 |
472 |
1.02e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162735
AA Change: L301P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125288
Gene: ENSMUSG00000021187
AA Change: L301P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
210 |
N/A |
INTRINSIC |
|
C2
|
238 |
339 |
5.56e0 |
SMART |
|
C2
|
366 |
472 |
1.02e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.4104 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,331,590 (GRCm39) |
S1326P |
possibly damaging |
Het |
| Adam22 |
T |
G |
5: 8,199,218 (GRCm39) |
D246A |
probably damaging |
Het |
| Bmf |
T |
C |
2: 118,363,018 (GRCm39) |
|
probably benign |
Het |
| Cd300lf |
T |
C |
11: 115,015,089 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Chuk |
G |
A |
19: 44,090,279 (GRCm39) |
A71V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,309,473 (GRCm39) |
G1060E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,904,973 (GRCm39) |
V634A |
probably benign |
Het |
| Dpm3 |
A |
G |
3: 89,174,039 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fam184b |
T |
C |
5: 45,697,106 (GRCm39) |
E686G |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,712,854 (GRCm39) |
D195V |
possibly damaging |
Het |
| Glis2 |
T |
C |
16: 4,429,240 (GRCm39) |
S148P |
probably benign |
Het |
| Gm8587 |
C |
T |
12: 88,056,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,501,811 (GRCm39) |
W687R |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
| Ints9 |
T |
C |
14: 65,230,430 (GRCm39) |
L119P |
probably damaging |
Het |
| Itga9 |
T |
C |
9: 118,436,146 (GRCm39) |
Y51H |
probably damaging |
Het |
| Klf17 |
T |
A |
4: 117,616,383 (GRCm39) |
H316L |
probably benign |
Het |
| Klf4 |
C |
T |
4: 55,530,884 (GRCm39) |
G26R |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,049,711 (GRCm39) |
V605A |
probably damaging |
Het |
| Mafa |
T |
C |
15: 75,619,413 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Map3k20 |
A |
G |
2: 72,271,915 (GRCm39) |
Y681C |
probably damaging |
Het |
| Nub1 |
T |
C |
5: 24,897,875 (GRCm39) |
I87T |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,242 (GRCm39) |
V37D |
probably damaging |
Het |
| Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,299,898 (GRCm39) |
V256D |
possibly damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,332,261 (GRCm39) |
|
probably benign |
Het |
| Rgcc |
T |
C |
14: 79,538,155 (GRCm39) |
S79G |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
| Stxbp5l |
A |
T |
16: 37,068,242 (GRCm39) |
C315S |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,878,405 (GRCm39) |
|
probably null |
Het |
| Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
T |
C |
2: 120,907,442 (GRCm39) |
I94V |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trbv4 |
A |
C |
6: 41,036,646 (GRCm39) |
D57A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,192,426 (GRCm39) |
D396G |
probably benign |
Het |
| Txnrd2 |
C |
G |
16: 18,245,175 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
T |
C |
9: 122,681,589 (GRCm39) |
N784S |
probably benign |
Het |
| Zfp459 |
G |
T |
13: 67,556,562 (GRCm39) |
L174I |
probably benign |
Het |
|
| Other mutations in Tc2n |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01656:Tc2n
|
APN |
12 |
101,615,348 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02129:Tc2n
|
APN |
12 |
101,656,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02630:Tc2n
|
APN |
12 |
101,659,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
upbraided
|
UTSW |
12 |
101,617,460 (GRCm39) |
splice site |
probably null |
|
|
R0517:Tc2n
|
UTSW |
12 |
101,615,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0980:Tc2n
|
UTSW |
12 |
101,644,835 (GRCm39) |
nonsense |
probably null |
|
|
R1676:Tc2n
|
UTSW |
12 |
101,655,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Tc2n
|
UTSW |
12 |
101,672,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Tc2n
|
UTSW |
12 |
101,660,833 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4082:Tc2n
|
UTSW |
12 |
101,617,414 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4707:Tc2n
|
UTSW |
12 |
101,660,832 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4793:Tc2n
|
UTSW |
12 |
101,617,376 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4917:Tc2n
|
UTSW |
12 |
101,631,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Tc2n
|
UTSW |
12 |
101,659,461 (GRCm39) |
nonsense |
probably null |
|
|
R5870:Tc2n
|
UTSW |
12 |
101,619,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Tc2n
|
UTSW |
12 |
101,617,460 (GRCm39) |
splice site |
probably null |
|
|
R6034:Tc2n
|
UTSW |
12 |
101,617,460 (GRCm39) |
splice site |
probably null |
|
|
R6128:Tc2n
|
UTSW |
12 |
101,675,748 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7200:Tc2n
|
UTSW |
12 |
101,655,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Tc2n
|
UTSW |
12 |
101,631,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Tc2n
|
UTSW |
12 |
101,672,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7730:Tc2n
|
UTSW |
12 |
101,617,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7836:Tc2n
|
UTSW |
12 |
101,619,112 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8432:Tc2n
|
UTSW |
12 |
101,615,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8435:Tc2n
|
UTSW |
12 |
101,615,376 (GRCm39) |
nonsense |
probably null |
|
|
R8530:Tc2n
|
UTSW |
12 |
101,617,444 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8669:Tc2n
|
UTSW |
12 |
101,660,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Tc2n
|
UTSW |
12 |
101,660,818 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCAACAAATGAAGATTTTCAA -3'
(R):5'- AGGATGAATTGTGAAGCTAAGTAATAC -3'
Sequencing Primer
(F):5'- CCATTTTAAAAGTGTCAACTATGTCC -3'
(R):5'- AAGCTTCCCCTTGAGATGGGTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation