Incidental Mutation 'R0980:Tc2n'
ID |
97044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tc2n
|
Ensembl Gene |
ENSMUSG00000021187 |
Gene Name |
tandem C2 domains, nuclear |
Synonyms |
4933406D09Rik, Mtac2d1, Tac2-N |
MMRRC Submission |
039106-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R0980 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
101611702-101684782 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 101644835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 264
(K264*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110047]
[ENSMUST00000160715]
[ENSMUST00000160830]
[ENSMUST00000162735]
|
AlphaFold |
Q91XT6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000110047
AA Change: K264*
|
SMART Domains |
Protein: ENSMUSP00000105674 Gene: ENSMUSG00000021187 AA Change: K264*
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 null
Transcript: ENSMUST00000160715
AA Change: K264*
|
SMART Domains |
Protein: ENSMUSP00000125099 Gene: ENSMUSG00000021187 AA Change: K264*
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 null
Transcript: ENSMUST00000160830
AA Change: K264*
|
SMART Domains |
Protein: ENSMUSP00000124287 Gene: ENSMUSG00000021187 AA Change: K264*
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 null
Transcript: ENSMUST00000162735
AA Change: K264*
|
SMART Domains |
Protein: ENSMUSP00000125288 Gene: ENSMUSG00000021187 AA Change: K264*
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankdd1a |
T |
C |
9: 65,424,253 (GRCm39) |
H20R |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,467,866 (GRCm39) |
E1778G |
possibly damaging |
Het |
Arhgef18 |
C |
T |
8: 3,439,095 (GRCm39) |
|
probably benign |
Het |
Blm |
A |
T |
7: 80,149,706 (GRCm39) |
|
probably null |
Het |
Ccr6 |
A |
G |
17: 8,474,846 (GRCm39) |
E17G |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,100,720 (GRCm39) |
T605A |
probably damaging |
Het |
Cnga4 |
C |
A |
7: 105,057,213 (GRCm39) |
P439T |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
Cyp2a5 |
A |
G |
7: 26,538,431 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
Elp3 |
T |
C |
14: 65,815,402 (GRCm39) |
T197A |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,806,378 (GRCm39) |
D1200G |
probably damaging |
Het |
Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
Gprin1 |
T |
C |
13: 54,888,214 (GRCm39) |
D20G |
possibly damaging |
Het |
Hltf |
T |
C |
3: 20,145,665 (GRCm39) |
S432P |
probably benign |
Het |
Immt |
T |
C |
6: 71,851,310 (GRCm39) |
V54A |
probably benign |
Het |
Jhy |
T |
G |
9: 40,856,133 (GRCm39) |
Y118S |
possibly damaging |
Het |
Kif23 |
C |
A |
9: 61,844,046 (GRCm39) |
K154N |
possibly damaging |
Het |
Krt79 |
T |
C |
15: 101,846,442 (GRCm39) |
T169A |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,740,827 (GRCm39) |
E443G |
probably damaging |
Het |
Ltbp4 |
A |
T |
7: 27,023,587 (GRCm39) |
C786S |
probably damaging |
Het |
Mme |
A |
T |
3: 63,247,550 (GRCm39) |
E278D |
probably benign |
Het |
Nt5c2 |
G |
T |
19: 46,887,317 (GRCm39) |
Q162K |
probably benign |
Het |
Obscn |
A |
G |
11: 58,888,887 (GRCm39) |
V2109A |
possibly damaging |
Het |
Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
Or8k28 |
T |
C |
2: 86,285,704 (GRCm39) |
T304A |
probably benign |
Het |
Or8k38 |
T |
A |
2: 86,488,209 (GRCm39) |
I198L |
probably benign |
Het |
Osmr |
G |
T |
15: 6,881,921 (GRCm39) |
N74K |
probably benign |
Het |
Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
Pgd |
A |
T |
4: 149,238,768 (GRCm39) |
|
probably null |
Het |
Pld1 |
T |
A |
3: 28,178,724 (GRCm39) |
S873T |
probably damaging |
Het |
Polk |
A |
T |
13: 96,620,272 (GRCm39) |
C664S |
probably benign |
Het |
Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
Ptgs2 |
A |
C |
1: 149,980,061 (GRCm39) |
D333A |
probably damaging |
Het |
Rexo5 |
T |
C |
7: 119,423,035 (GRCm39) |
V289A |
probably damaging |
Het |
Rnf125 |
T |
A |
18: 21,112,117 (GRCm39) |
C49* |
probably null |
Het |
Rprd2 |
C |
A |
3: 95,673,216 (GRCm39) |
R729L |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,388,994 (GRCm39) |
S407G |
possibly damaging |
Het |
Slc35a4 |
C |
A |
18: 36,815,834 (GRCm39) |
N221K |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,220,761 (GRCm39) |
D563G |
probably benign |
Het |
Stk39 |
G |
T |
2: 68,222,515 (GRCm39) |
T183K |
probably damaging |
Het |
Trim23 |
C |
T |
13: 104,324,635 (GRCm39) |
R238W |
probably damaging |
Het |
Trim66 |
C |
A |
7: 109,054,877 (GRCm39) |
V1240L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,584,389 (GRCm39) |
T13913A |
probably damaging |
Het |
Ubap1 |
T |
G |
4: 41,379,832 (GRCm39) |
C349G |
probably damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly damaging |
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 |
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 |
R4180:Tc2n
|
UTSW |
12 |
101,631,954 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCACCTATGTGTAACACagagtgcatac -3'
(R):5'- TTTAAGGCAGGGGCTTAGGGATGA -3'
Sequencing Primer
(F):5'- TTTGAAAGTCAAAAAGTTGTTGGGAG -3'
(R):5'- gaagcagaggcaggtgg -3'
|
Posted On |
2014-01-05 |