Incidental Mutation 'R1812:Tanc2'
ID |
202497 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tanc2
|
Ensembl Gene |
ENSMUSG00000053580 |
Gene Name |
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 |
Synonyms |
5730590C14Rik, 3526402J09Rik |
MMRRC Submission |
039840-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1812 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
105480812-105820130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105777212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 797
(F797L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100330]
|
AlphaFold |
A2A690 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100330
AA Change: F797L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000097904 Gene: ENSMUSG00000053580 AA Change: F797L
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
50 |
N/A |
INTRINSIC |
low complexity region
|
129 |
152 |
N/A |
INTRINSIC |
low complexity region
|
362 |
375 |
N/A |
INTRINSIC |
low complexity region
|
436 |
447 |
N/A |
INTRINSIC |
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
ANK
|
846 |
878 |
2.08e3 |
SMART |
ANK
|
882 |
913 |
2.97e2 |
SMART |
ANK
|
917 |
946 |
5.75e-1 |
SMART |
ANK
|
950 |
979 |
8.62e1 |
SMART |
ANK
|
990 |
1018 |
1.16e3 |
SMART |
ANK
|
1033 |
1062 |
3.31e-1 |
SMART |
ANK
|
1066 |
1095 |
7.71e-2 |
SMART |
ANK
|
1099 |
1128 |
6.12e-5 |
SMART |
ANK
|
1132 |
1161 |
8.99e-3 |
SMART |
ANK
|
1165 |
1194 |
5.71e-5 |
SMART |
ANK
|
1198 |
1227 |
2.11e2 |
SMART |
TPR
|
1244 |
1277 |
3.89e1 |
SMART |
TPR
|
1291 |
1324 |
3.61e-2 |
SMART |
TPR
|
1325 |
1358 |
2.82e-4 |
SMART |
low complexity region
|
1369 |
1406 |
N/A |
INTRINSIC |
low complexity region
|
1533 |
1539 |
N/A |
INTRINSIC |
low complexity region
|
1787 |
1802 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.3%
- 10x: 93.2%
- 20x: 85.7%
|
Validation Efficiency |
100% (1/1) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap vector die prior to E12. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
A |
9: 57,164,740 (GRCm39) |
Q545* |
probably null |
Het |
Aadacl2 |
T |
C |
3: 59,932,498 (GRCm39) |
C338R |
probably damaging |
Het |
Abcb4 |
G |
A |
5: 8,978,578 (GRCm39) |
|
probably null |
Het |
Adam17 |
T |
C |
12: 21,411,768 (GRCm39) |
D41G |
probably damaging |
Het |
Angptl7 |
T |
A |
4: 148,582,540 (GRCm39) |
I119F |
probably damaging |
Het |
Arid1b |
T |
A |
17: 5,387,304 (GRCm39) |
S1586T |
probably benign |
Het |
Arid4b |
C |
T |
13: 14,370,014 (GRCm39) |
A1170V |
probably damaging |
Het |
Atad5 |
A |
G |
11: 80,023,873 (GRCm39) |
T1659A |
probably damaging |
Het |
Bub1b |
T |
G |
2: 118,462,902 (GRCm39) |
D754E |
probably benign |
Het |
Cdkn1a |
T |
C |
17: 29,317,539 (GRCm39) |
V53A |
probably benign |
Het |
Chsy1 |
T |
G |
7: 65,821,565 (GRCm39) |
V600G |
probably benign |
Het |
Cntrl |
G |
A |
2: 35,039,481 (GRCm39) |
V561M |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,805,253 (GRCm39) |
C1218R |
unknown |
Het |
Crhr1 |
T |
C |
11: 104,059,973 (GRCm39) |
L140P |
probably damaging |
Het |
Cyb5b |
CAGAG |
CAG |
8: 107,897,020 (GRCm39) |
|
probably null |
Het |
Cyp3a59 |
A |
T |
5: 146,039,621 (GRCm39) |
Q298L |
probably damaging |
Het |
Dctn1 |
A |
G |
6: 83,169,500 (GRCm39) |
E638G |
possibly damaging |
Het |
Ddx41 |
A |
G |
13: 55,683,767 (GRCm39) |
I88T |
probably benign |
Het |
Dennd11 |
A |
G |
6: 40,386,365 (GRCm39) |
I288T |
probably benign |
Het |
Diaph1 |
G |
T |
18: 38,024,071 (GRCm39) |
P589Q |
unknown |
Het |
Dip2b |
C |
A |
15: 100,096,819 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
G |
A |
9: 45,662,584 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
C |
T |
12: 110,629,334 (GRCm39) |
A4246V |
possibly damaging |
Het |
Epb41l1 |
T |
C |
2: 156,338,431 (GRCm39) |
I158T |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,489,840 (GRCm39) |
Y3584C |
probably damaging |
Het |
Fxyd5 |
T |
A |
7: 30,737,355 (GRCm39) |
|
probably null |
Het |
Gapvd1 |
T |
A |
2: 34,615,076 (GRCm39) |
K336* |
probably null |
Het |
Gm9637 |
G |
A |
14: 19,402,395 (GRCm38) |
|
noncoding transcript |
Het |
Gpr65 |
C |
T |
12: 98,242,001 (GRCm39) |
T218M |
probably damaging |
Het |
Gsdma3 |
T |
C |
11: 98,523,219 (GRCm39) |
V203A |
probably damaging |
Het |
Helb |
T |
A |
10: 119,925,471 (GRCm39) |
K969* |
probably null |
Het |
Hipk2 |
G |
A |
6: 38,675,098 (GRCm39) |
A1188V |
probably benign |
Het |
Itpk1 |
T |
A |
12: 102,540,317 (GRCm39) |
E255D |
probably benign |
Het |
Kif21a |
T |
C |
15: 90,855,969 (GRCm39) |
D596G |
possibly damaging |
Het |
Kif5a |
A |
T |
10: 127,077,879 (GRCm39) |
I405N |
probably benign |
Het |
Klk1b11 |
T |
A |
7: 43,427,179 (GRCm39) |
|
probably null |
Het |
Luzp1 |
T |
A |
4: 136,269,642 (GRCm39) |
L622M |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,325,817 (GRCm39) |
I5227F |
probably damaging |
Het |
Mapk10 |
A |
C |
5: 103,061,128 (GRCm39) |
S470A |
probably damaging |
Het |
Morc2a |
C |
T |
11: 3,635,831 (GRCm39) |
T897I |
probably damaging |
Het |
Nmbr |
A |
G |
10: 14,636,283 (GRCm39) |
|
probably null |
Het |
Nosip |
T |
A |
7: 44,725,998 (GRCm39) |
M214K |
probably damaging |
Het |
Or13c7d |
G |
T |
4: 43,770,230 (GRCm39) |
Y260* |
probably null |
Het |
Or52m2 |
A |
T |
7: 102,263,577 (GRCm39) |
N206K |
possibly damaging |
Het |
Or52r1 |
T |
C |
7: 102,537,285 (GRCm39) |
Y25C |
probably benign |
Het |
Or5w13 |
A |
G |
2: 87,523,447 (GRCm39) |
F260L |
probably benign |
Het |
Pik3c2a |
A |
T |
7: 116,016,899 (GRCm39) |
V286E |
probably damaging |
Het |
Ppfia4 |
T |
A |
1: 134,252,311 (GRCm39) |
I388F |
probably benign |
Het |
Ppm1f |
A |
G |
16: 16,735,651 (GRCm39) |
H289R |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 22,959,711 (GRCm39) |
D69E |
probably benign |
Het |
Rad54b |
A |
T |
4: 11,612,770 (GRCm39) |
T801S |
probably damaging |
Het |
Ramp1 |
A |
T |
1: 91,124,579 (GRCm39) |
N47Y |
probably damaging |
Het |
Rnf32 |
T |
A |
5: 29,411,258 (GRCm39) |
H181Q |
possibly damaging |
Het |
Rpa2 |
T |
C |
4: 132,495,996 (GRCm39) |
F6L |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,575,472 (GRCm39) |
R4842L |
probably damaging |
Het |
Scn11a |
G |
T |
9: 119,609,931 (GRCm39) |
C972* |
probably null |
Het |
Setd2 |
C |
T |
9: 110,379,170 (GRCm39) |
T995I |
probably damaging |
Het |
Slc39a7 |
A |
G |
17: 34,247,789 (GRCm39) |
L471P |
probably damaging |
Het |
Slc6a21 |
C |
G |
7: 44,932,371 (GRCm39) |
S350R |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,910,115 (GRCm39) |
N300S |
probably benign |
Het |
Spef2 |
G |
A |
15: 9,679,435 (GRCm39) |
P634L |
probably damaging |
Het |
Stk32b |
G |
A |
5: 37,624,102 (GRCm39) |
A215V |
probably damaging |
Het |
Svil |
A |
T |
18: 5,097,545 (GRCm39) |
Y1676F |
probably damaging |
Het |
Tanc1 |
G |
A |
2: 59,622,023 (GRCm39) |
V381M |
probably damaging |
Het |
Tas2r120 |
T |
G |
6: 132,634,564 (GRCm39) |
C215W |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,545,147 (GRCm39) |
D2388N |
probably damaging |
Het |
Thsd4 |
C |
T |
9: 59,964,220 (GRCm39) |
S64N |
probably damaging |
Het |
Thsd7b |
C |
T |
1: 129,686,347 (GRCm39) |
R630C |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,650,188 (GRCm39) |
I145T |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,569,995 (GRCm39) |
D171G |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,215,046 (GRCm39) |
E343G |
probably benign |
Het |
Wdr70 |
T |
C |
15: 8,108,663 (GRCm39) |
D161G |
probably benign |
Het |
|
Other mutations in Tanc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Tanc2
|
APN |
11 |
105,814,046 (GRCm39) |
missense |
probably benign |
0.28 |
IGL00688:Tanc2
|
APN |
11 |
105,689,516 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00709:Tanc2
|
APN |
11 |
105,689,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01013:Tanc2
|
APN |
11 |
105,515,891 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01141:Tanc2
|
APN |
11 |
105,777,300 (GRCm39) |
splice site |
probably benign |
|
IGL01386:Tanc2
|
APN |
11 |
105,777,207 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01433:Tanc2
|
APN |
11 |
105,701,348 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01562:Tanc2
|
APN |
11 |
105,670,895 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01979:Tanc2
|
APN |
11 |
105,667,746 (GRCm39) |
missense |
probably benign |
|
IGL02104:Tanc2
|
APN |
11 |
105,670,959 (GRCm39) |
unclassified |
probably benign |
|
IGL02434:Tanc2
|
APN |
11 |
105,670,868 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02534:Tanc2
|
APN |
11 |
105,725,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02568:Tanc2
|
APN |
11 |
105,667,777 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03279:Tanc2
|
APN |
11 |
105,803,918 (GRCm39) |
splice site |
probably null |
|
R0595:Tanc2
|
UTSW |
11 |
105,605,003 (GRCm39) |
splice site |
probably null |
|
R1131:Tanc2
|
UTSW |
11 |
105,725,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R1320:Tanc2
|
UTSW |
11 |
105,777,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R1487:Tanc2
|
UTSW |
11 |
105,814,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R1497:Tanc2
|
UTSW |
11 |
105,812,963 (GRCm39) |
missense |
probably benign |
0.21 |
R1692:Tanc2
|
UTSW |
11 |
105,748,326 (GRCm39) |
missense |
probably benign |
|
R1712:Tanc2
|
UTSW |
11 |
105,790,606 (GRCm39) |
missense |
probably benign |
|
R1793:Tanc2
|
UTSW |
11 |
105,515,859 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1905:Tanc2
|
UTSW |
11 |
105,813,689 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1959:Tanc2
|
UTSW |
11 |
105,801,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Tanc2
|
UTSW |
11 |
105,689,558 (GRCm39) |
missense |
probably benign |
0.14 |
R2122:Tanc2
|
UTSW |
11 |
105,786,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R2174:Tanc2
|
UTSW |
11 |
105,801,135 (GRCm39) |
missense |
probably benign |
0.00 |
R2341:Tanc2
|
UTSW |
11 |
105,725,877 (GRCm39) |
missense |
probably benign |
0.09 |
R2497:Tanc2
|
UTSW |
11 |
105,564,319 (GRCm39) |
critical splice donor site |
probably null |
|
R3438:Tanc2
|
UTSW |
11 |
105,748,401 (GRCm39) |
missense |
probably damaging |
0.97 |
R3711:Tanc2
|
UTSW |
11 |
105,689,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R3765:Tanc2
|
UTSW |
11 |
105,805,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R3890:Tanc2
|
UTSW |
11 |
105,689,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R4193:Tanc2
|
UTSW |
11 |
105,804,888 (GRCm39) |
intron |
probably benign |
|
R4609:Tanc2
|
UTSW |
11 |
105,801,066 (GRCm39) |
missense |
probably benign |
0.24 |
R4674:Tanc2
|
UTSW |
11 |
105,758,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Tanc2
|
UTSW |
11 |
105,758,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R5008:Tanc2
|
UTSW |
11 |
105,515,886 (GRCm39) |
start codon destroyed |
probably null |
0.46 |
R5010:Tanc2
|
UTSW |
11 |
105,670,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:Tanc2
|
UTSW |
11 |
105,748,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5385:Tanc2
|
UTSW |
11 |
105,667,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R5409:Tanc2
|
UTSW |
11 |
105,758,311 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5419:Tanc2
|
UTSW |
11 |
105,813,709 (GRCm39) |
missense |
probably benign |
0.00 |
R5501:Tanc2
|
UTSW |
11 |
105,805,811 (GRCm39) |
critical splice donor site |
probably null |
|
R5590:Tanc2
|
UTSW |
11 |
105,814,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R5651:Tanc2
|
UTSW |
11 |
105,689,526 (GRCm39) |
missense |
probably benign |
0.44 |
R5798:Tanc2
|
UTSW |
11 |
105,812,681 (GRCm39) |
small deletion |
probably benign |
|
R5876:Tanc2
|
UTSW |
11 |
105,813,439 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5889:Tanc2
|
UTSW |
11 |
105,812,633 (GRCm39) |
missense |
probably benign |
0.23 |
R5958:Tanc2
|
UTSW |
11 |
105,731,451 (GRCm39) |
missense |
probably benign |
0.00 |
R5999:Tanc2
|
UTSW |
11 |
105,758,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Tanc2
|
UTSW |
11 |
105,814,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Tanc2
|
UTSW |
11 |
105,758,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R6025:Tanc2
|
UTSW |
11 |
105,787,373 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6025:Tanc2
|
UTSW |
11 |
105,758,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R6048:Tanc2
|
UTSW |
11 |
105,758,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R6049:Tanc2
|
UTSW |
11 |
105,758,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R6185:Tanc2
|
UTSW |
11 |
105,803,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R6335:Tanc2
|
UTSW |
11 |
105,748,382 (GRCm39) |
missense |
probably damaging |
0.99 |
R6821:Tanc2
|
UTSW |
11 |
105,777,316 (GRCm39) |
splice site |
probably null |
|
R6846:Tanc2
|
UTSW |
11 |
105,689,479 (GRCm39) |
missense |
probably benign |
0.34 |
R6857:Tanc2
|
UTSW |
11 |
105,801,114 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6904:Tanc2
|
UTSW |
11 |
105,726,056 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7009:Tanc2
|
UTSW |
11 |
105,731,525 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7017:Tanc2
|
UTSW |
11 |
105,813,934 (GRCm39) |
missense |
probably benign |
|
R7371:Tanc2
|
UTSW |
11 |
105,689,422 (GRCm39) |
missense |
probably benign |
|
R7556:Tanc2
|
UTSW |
11 |
105,799,857 (GRCm39) |
missense |
|
|
R7630:Tanc2
|
UTSW |
11 |
105,667,734 (GRCm39) |
missense |
probably benign |
0.04 |
R7693:Tanc2
|
UTSW |
11 |
105,814,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R7757:Tanc2
|
UTSW |
11 |
105,667,684 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7807:Tanc2
|
UTSW |
11 |
105,758,480 (GRCm39) |
missense |
probably benign |
0.00 |
R7878:Tanc2
|
UTSW |
11 |
105,804,241 (GRCm39) |
missense |
|
|
R7895:Tanc2
|
UTSW |
11 |
105,812,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R7952:Tanc2
|
UTSW |
11 |
105,787,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R8099:Tanc2
|
UTSW |
11 |
105,754,833 (GRCm39) |
missense |
probably benign |
0.17 |
R8117:Tanc2
|
UTSW |
11 |
105,725,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R8133:Tanc2
|
UTSW |
11 |
105,814,048 (GRCm39) |
missense |
probably damaging |
0.97 |
R8422:Tanc2
|
UTSW |
11 |
105,726,014 (GRCm39) |
missense |
probably benign |
0.10 |
R8527:Tanc2
|
UTSW |
11 |
105,807,834 (GRCm39) |
missense |
probably damaging |
0.96 |
R8542:Tanc2
|
UTSW |
11 |
105,807,834 (GRCm39) |
missense |
probably damaging |
0.96 |
R8834:Tanc2
|
UTSW |
11 |
105,807,845 (GRCm39) |
missense |
|
|
R8912:Tanc2
|
UTSW |
11 |
105,758,153 (GRCm39) |
missense |
probably benign |
0.01 |
R8927:Tanc2
|
UTSW |
11 |
105,701,331 (GRCm39) |
missense |
probably damaging |
0.99 |
R8928:Tanc2
|
UTSW |
11 |
105,701,331 (GRCm39) |
missense |
probably damaging |
0.99 |
R8968:Tanc2
|
UTSW |
11 |
105,758,400 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9065:Tanc2
|
UTSW |
11 |
105,689,518 (GRCm39) |
nonsense |
probably null |
|
R9095:Tanc2
|
UTSW |
11 |
105,758,104 (GRCm39) |
missense |
probably benign |
0.00 |
R9108:Tanc2
|
UTSW |
11 |
105,810,580 (GRCm39) |
intron |
probably benign |
|
R9131:Tanc2
|
UTSW |
11 |
105,689,603 (GRCm39) |
missense |
probably benign |
|
R9294:Tanc2
|
UTSW |
11 |
105,777,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R9445:Tanc2
|
UTSW |
11 |
105,758,290 (GRCm39) |
missense |
possibly damaging |
0.80 |
X0027:Tanc2
|
UTSW |
11 |
105,726,009 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAATGTCCAAATGTATTACTTGCC -3'
(R):5'- TCCATAGGACTAGAACTGTCAAAC -3'
Sequencing Primer
(F):5'- CTTGTAACAAATGTCTTTCCCCAAG -3'
(R):5'- ATAGTGAGTAATAGTGGACTGTGGGC -3'
|
Posted On |
2014-06-23 |