Incidental Mutation 'R8117:Tanc2'
ID |
631289 |
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 |
067546-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8117 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
105480812-105820130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105725988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 384
(V384E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100330]
|
AlphaFold |
A2A690 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100330
AA Change: V384E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097904 Gene: ENSMUSG00000053580 AA Change: V384E
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: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.4%
|
Validation Efficiency |
99% (73/74) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,058,078 (GRCm39) |
T14A |
|
Het |
2610008E11Rik |
T |
C |
10: 78,930,289 (GRCm39) |
N42D |
probably benign |
Het |
Ajm1 |
A |
G |
2: 25,469,246 (GRCm39) |
F222L |
probably benign |
Het |
Ankrd54 |
T |
A |
15: 78,939,641 (GRCm39) |
M183L |
|
Het |
Apob |
G |
A |
12: 8,056,435 (GRCm39) |
G1639D |
probably damaging |
Het |
B3gat2 |
A |
G |
1: 23,884,061 (GRCm39) |
T283A |
probably benign |
Het |
Bmpr2 |
T |
G |
1: 59,886,252 (GRCm39) |
S296R |
probably damaging |
Het |
Cand1 |
G |
A |
10: 119,042,721 (GRCm39) |
T1123I |
probably damaging |
Het |
Cc2d2a |
T |
C |
5: 43,869,781 (GRCm39) |
F943S |
probably damaging |
Het |
Ccdc40 |
T |
C |
11: 119,144,211 (GRCm39) |
I912T |
probably benign |
Het |
Cdkn2d |
G |
A |
9: 21,200,447 (GRCm39) |
S108L |
probably benign |
Het |
Cep295 |
G |
A |
9: 15,245,660 (GRCm39) |
T932I |
probably damaging |
Het |
Cntn5 |
A |
G |
9: 9,673,955 (GRCm39) |
S716P |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,895,808 (GRCm39) |
E903G |
probably benign |
Het |
Ctrc |
T |
A |
4: 141,565,972 (GRCm39) |
I229F |
probably damaging |
Het |
Cyb561d2 |
C |
T |
9: 107,418,771 (GRCm39) |
A18T |
probably benign |
Het |
Dnajb4 |
T |
A |
3: 151,899,089 (GRCm39) |
K46* |
probably null |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Dsg1c |
C |
T |
18: 20,410,016 (GRCm39) |
H495Y |
probably benign |
Het |
Eif2b3 |
A |
G |
4: 116,879,414 (GRCm39) |
D18G |
probably damaging |
Het |
Enam |
A |
T |
5: 88,651,385 (GRCm39) |
I965L |
probably benign |
Het |
Fhod3 |
T |
A |
18: 25,248,910 (GRCm39) |
I1363K |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,855,245 (GRCm39) |
Y1918C |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,823,296 (GRCm39) |
I6343N |
possibly damaging |
Het |
Gpr45 |
G |
C |
1: 43,072,475 (GRCm39) |
V373L |
probably damaging |
Het |
Hdac2 |
G |
T |
10: 36,873,966 (GRCm39) |
Q365H |
probably damaging |
Het |
Hspa12b |
A |
G |
2: 130,980,389 (GRCm39) |
T103A |
possibly damaging |
Het |
Ifrd1 |
A |
T |
12: 40,262,350 (GRCm39) |
S287T |
probably benign |
Het |
Igkv6-15 |
G |
A |
6: 70,383,622 (GRCm39) |
P60S |
possibly damaging |
Het |
Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
Kctd19 |
T |
A |
8: 106,122,069 (GRCm39) |
D109V |
unknown |
Het |
Matn4 |
G |
A |
2: 164,234,851 (GRCm39) |
S540L |
probably damaging |
Het |
Matn4 |
T |
C |
2: 164,241,682 (GRCm39) |
K248E |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,420,206 (GRCm39) |
Q97* |
probably null |
Het |
Mup18 |
A |
G |
4: 61,592,238 (GRCm39) |
C9R |
unknown |
Het |
Myh1 |
A |
G |
11: 67,113,031 (GRCm39) |
K1845R |
probably damaging |
Het |
Mysm1 |
G |
A |
4: 94,848,627 (GRCm39) |
R469* |
probably null |
Het |
Naip1 |
T |
C |
13: 100,563,509 (GRCm39) |
D552G |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,618,371 (GRCm39) |
D787G |
probably benign |
Het |
Nrcam |
G |
A |
12: 44,645,365 (GRCm39) |
V1256I |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,932,980 (GRCm39) |
H4799N |
possibly damaging |
Het |
Or1f12 |
T |
C |
13: 21,722,122 (GRCm39) |
K3E |
probably benign |
Het |
Or4p4 |
A |
G |
2: 88,482,729 (GRCm39) |
K78E |
probably damaging |
Het |
Or52e18 |
T |
C |
7: 104,609,356 (GRCm39) |
I194M |
probably damaging |
Het |
Or7g22 |
A |
G |
9: 19,048,353 (GRCm39) |
I21M |
probably benign |
Het |
Pcdhgb5 |
T |
C |
18: 37,866,302 (GRCm39) |
F699S |
probably damaging |
Het |
Phtf2 |
T |
C |
5: 21,007,038 (GRCm39) |
E175G |
probably benign |
Het |
Pira1 |
G |
A |
7: 3,740,075 (GRCm39) |
T340I |
probably damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,517,519 (GRCm39) |
H218R |
possibly damaging |
Het |
Ptgs2 |
A |
G |
1: 149,979,785 (GRCm39) |
R297G |
probably damaging |
Het |
Rapgef3 |
A |
T |
15: 97,648,747 (GRCm39) |
D619E |
probably benign |
Het |
Ric1 |
G |
A |
19: 29,552,191 (GRCm39) |
V321I |
probably benign |
Het |
Ripor1 |
T |
C |
8: 106,344,105 (GRCm39) |
V413A |
probably damaging |
Het |
Rsf1 |
G |
T |
7: 97,288,464 (GRCm39) |
|
probably null |
Het |
Sccpdh |
A |
G |
1: 179,504,017 (GRCm39) |
D122G |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,331,441 (GRCm39) |
H191Q |
probably benign |
Het |
Slco1a5 |
G |
T |
6: 142,208,418 (GRCm39) |
N124K |
probably damaging |
Het |
Snrnp200 |
A |
G |
2: 127,071,051 (GRCm39) |
T1111A |
probably benign |
Het |
Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
Tbrg1 |
A |
G |
9: 37,568,296 (GRCm39) |
F49L |
possibly damaging |
Het |
Tecta |
A |
G |
9: 42,288,927 (GRCm39) |
F546S |
probably damaging |
Het |
Tmem132c |
A |
G |
5: 127,437,176 (GRCm39) |
R222G |
probably benign |
Het |
Trub2 |
C |
T |
2: 29,668,739 (GRCm39) |
|
probably null |
Het |
Tti1 |
G |
T |
2: 157,849,418 (GRCm39) |
P607Q |
probably damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,678,726 (GRCm39) |
F136I |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,790,469 (GRCm39) |
H179L |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,699,063 (GRCm39) |
C2703* |
probably null |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Wipf3 |
A |
G |
6: 54,460,816 (GRCm39) |
K88R |
probably benign |
Het |
Zfp641 |
C |
T |
15: 98,186,856 (GRCm39) |
G256R |
probably damaging |
Het |
Zfp993 |
T |
A |
4: 146,741,972 (GRCm39) |
C99S |
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 |
|
R1812:Tanc2
|
UTSW |
11 |
105,777,212 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- GTTCGCTTTGCACCTTACAG -3'
(R):5'- GGTGCAGGCTTCACAGATAAG -3'
Sequencing Primer
(F):5'- GACCTCCAGACATCTCCTTGAAG -3'
(R):5'- GCAGGCTTCACAGATAAGAATAATC -3'
|
Posted On |
2020-06-30 |