Incidental Mutation 'IGL02630:Tc2n'
ID |
301264 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tc2n
|
Ensembl Gene |
ENSMUSG00000021187 |
Gene Name |
tandem C2 domains, nuclear |
Synonyms |
4933406D09Rik, Mtac2d1, Tac2-N |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL02630
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
101611702-101684782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101659404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 176
(D176E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110047]
[ENSMUST00000160715]
[ENSMUST00000160830]
[ENSMUST00000162735]
|
AlphaFold |
Q91XT6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110047
AA Change: D176E
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105674 Gene: ENSMUSG00000021187 AA Change: D176E
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: ENSMUST00000160715
AA Change: D176E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125099 Gene: ENSMUSG00000021187 AA Change: D176E
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 |
possibly damaging
Transcript: ENSMUST00000160830
AA Change: D176E
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124287 Gene: ENSMUSG00000021187 AA Change: D176E
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 |
possibly damaging
Transcript: ENSMUST00000162735
AA Change: D176E
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125288 Gene: ENSMUSG00000021187 AA Change: D176E
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,989,441 (GRCm39) |
V3575E |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,537,140 (GRCm39) |
|
probably benign |
Het |
Arhgap23 |
A |
G |
11: 97,345,123 (GRCm39) |
T631A |
probably benign |
Het |
Chka |
T |
A |
19: 3,942,112 (GRCm39) |
H355Q |
possibly damaging |
Het |
Ctsj |
C |
T |
13: 61,149,214 (GRCm39) |
A277T |
probably damaging |
Het |
Ddx49 |
T |
C |
8: 70,753,668 (GRCm39) |
D67G |
probably damaging |
Het |
Dennd4b |
T |
C |
3: 90,180,284 (GRCm39) |
S716P |
probably benign |
Het |
Enpp5 |
G |
T |
17: 44,393,766 (GRCm39) |
D321Y |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,205,253 (GRCm39) |
E17G |
probably benign |
Het |
Fam161b |
G |
A |
12: 84,400,688 (GRCm39) |
P428L |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,872,586 (GRCm39) |
L256S |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,830,525 (GRCm39) |
|
probably null |
Het |
Foxred2 |
C |
T |
15: 77,831,362 (GRCm39) |
V484I |
probably benign |
Het |
Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
H3c1 |
C |
T |
13: 23,946,231 (GRCm39) |
V36M |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,795,456 (GRCm39) |
N271S |
possibly damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,496 (GRCm39) |
D58G |
possibly damaging |
Het |
Igkv4-80 |
A |
T |
6: 68,993,680 (GRCm39) |
Y70* |
probably null |
Het |
Ivns1abp |
G |
A |
1: 151,235,386 (GRCm39) |
R218H |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,898,595 (GRCm39) |
|
probably benign |
Het |
Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
Lgals12 |
T |
C |
19: 7,578,607 (GRCm39) |
|
probably benign |
Het |
Lpar4 |
T |
A |
X: 105,974,817 (GRCm39) |
F334I |
probably benign |
Het |
Muc5b |
G |
A |
7: 141,416,968 (GRCm39) |
G3305S |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,555,291 (GRCm39) |
D864G |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,145,299 (GRCm39) |
E22G |
probably damaging |
Het |
Nt5c2 |
T |
A |
19: 46,912,749 (GRCm39) |
M69L |
probably benign |
Het |
Or52ab4 |
A |
C |
7: 102,987,636 (GRCm39) |
Y125S |
probably damaging |
Het |
Or8k22 |
T |
C |
2: 86,163,212 (GRCm39) |
I163V |
probably benign |
Het |
Pde12 |
A |
T |
14: 26,387,552 (GRCm39) |
H455Q |
probably damaging |
Het |
Pdia6 |
A |
G |
12: 17,324,422 (GRCm39) |
H91R |
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,491,671 (GRCm39) |
I179K |
possibly damaging |
Het |
Prl2c1 |
T |
C |
13: 28,041,480 (GRCm39) |
|
probably benign |
Het |
Rasgrf2 |
C |
T |
13: 92,267,900 (GRCm39) |
E35K |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
Secisbp2 |
C |
A |
13: 51,832,942 (GRCm39) |
T608K |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,668,836 (GRCm39) |
Y532C |
probably damaging |
Het |
Slmap |
A |
G |
14: 26,143,586 (GRCm39) |
V750A |
possibly damaging |
Het |
Spaca6 |
T |
A |
17: 18,051,351 (GRCm39) |
L9Q |
probably damaging |
Het |
Sycp1 |
T |
C |
3: 102,786,080 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,043,712 (GRCm39) |
D131E |
probably damaging |
Het |
Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,202,143 (GRCm39) |
V1590A |
possibly damaging |
Het |
Tyrp1 |
T |
C |
4: 80,758,994 (GRCm39) |
V289A |
possibly damaging |
Het |
Ube2dnl1 |
T |
A |
X: 113,815,483 (GRCm39) |
C119* |
probably null |
Het |
Vmn1r191 |
T |
A |
13: 22,363,431 (GRCm39) |
I108F |
possibly damaging |
Het |
Zfp710 |
T |
A |
7: 79,731,789 (GRCm39) |
I322N |
probably 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 |
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 |
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 |
|
Posted On |
2015-04-16 |