Incidental Mutation 'R5403:Tbcd'
ID |
430126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbcd
|
Ensembl Gene |
ENSMUSG00000039230 |
Gene Name |
tubulin-specific chaperone d |
Synonyms |
2310057L06Rik, A030005L14Rik |
MMRRC Submission |
042974-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R5403 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 121451569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 546
(N546K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
AlphaFold |
Q8BYA0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103013
AA Change: N546K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099302 Gene: ENSMUSG00000039230 AA Change: N546K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
SCOP:d1b3ua_
|
357 |
742 |
4e-20 |
SMART |
Pfam:TFCD_C
|
900 |
1090 |
1.4e-74 |
PFAM |
low complexity region
|
1113 |
1120 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125167
|
SMART Domains |
Protein: ENSMUSP00000124735 Gene: ENSMUSG00000039230
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147560
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(23) : Gene trapped(23)
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,489,323 (GRCm39) |
D392G |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
Alkbh8 |
A |
G |
9: 3,385,318 (GRCm39) |
K537E |
probably benign |
Het |
Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
Bpifb4 |
A |
T |
2: 153,785,912 (GRCm39) |
I17F |
probably damaging |
Het |
Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
Ccdc88b |
T |
A |
19: 6,835,108 (GRCm39) |
T38S |
unknown |
Het |
Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
Cdr2 |
G |
A |
7: 120,557,968 (GRCm39) |
Q186* |
probably null |
Het |
Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
G |
A |
13: 64,909,792 (GRCm39) |
T771I |
possibly damaging |
Het |
Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
Ddx50 |
A |
G |
10: 62,482,809 (GRCm39) |
S87P |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,156,112 (GRCm39) |
S213P |
probably damaging |
Het |
Dlg2 |
A |
G |
7: 92,080,210 (GRCm39) |
T598A |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,595,933 (GRCm39) |
D919E |
probably damaging |
Het |
Fndc9 |
C |
T |
11: 46,128,541 (GRCm39) |
S20L |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,501,813 (GRCm39) |
E145G |
probably damaging |
Het |
Hc |
A |
G |
2: 34,947,446 (GRCm39) |
Y23H |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
Jmy |
G |
T |
13: 93,577,904 (GRCm39) |
Q755K |
probably benign |
Het |
Krtap4-7 |
A |
T |
11: 99,534,540 (GRCm39) |
S108T |
unknown |
Het |
Mgat5b |
T |
G |
11: 116,839,483 (GRCm39) |
I333S |
probably benign |
Het |
Mrtfb |
A |
G |
16: 13,218,877 (GRCm39) |
T519A |
probably damaging |
Het |
Naip6 |
G |
A |
13: 100,436,585 (GRCm39) |
A646V |
probably benign |
Het |
Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
Or8g22 |
G |
T |
9: 38,957,999 (GRCm39) |
P239T |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,644,617 (GRCm39) |
M1210L |
probably benign |
Het |
Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,586,108 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,538,034 (GRCm39) |
D1832G |
probably damaging |
Het |
Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
Ube2o |
A |
T |
11: 116,439,633 (GRCm39) |
I179N |
possibly damaging |
Het |
Usp17le |
T |
C |
7: 104,418,441 (GRCm39) |
I234V |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,365,262 (GRCm39) |
T382A |
probably benign |
Het |
Zfp607a |
A |
G |
7: 27,578,744 (GRCm39) |
K605E |
possibly damaging |
Het |
Zmynd10 |
T |
A |
9: 107,427,785 (GRCm39) |
L363H |
possibly damaging |
Het |
|
Other mutations in Tbcd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00519:Tbcd
|
APN |
11 |
121,466,147 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00795:Tbcd
|
APN |
11 |
121,507,758 (GRCm39) |
missense |
probably benign |
|
IGL00802:Tbcd
|
APN |
11 |
121,499,436 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01286:Tbcd
|
APN |
11 |
121,384,719 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01325:Tbcd
|
APN |
11 |
121,431,819 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01348:Tbcd
|
APN |
11 |
121,387,902 (GRCm39) |
missense |
probably benign |
|
IGL01432:Tbcd
|
APN |
11 |
121,366,506 (GRCm39) |
splice site |
probably benign |
|
IGL01577:Tbcd
|
APN |
11 |
121,387,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01660:Tbcd
|
APN |
11 |
121,496,153 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01865:Tbcd
|
APN |
11 |
121,481,206 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02260:Tbcd
|
APN |
11 |
121,494,104 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02492:Tbcd
|
APN |
11 |
121,387,960 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02620:Tbcd
|
APN |
11 |
121,352,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02950:Tbcd
|
APN |
11 |
121,494,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R6859_Tbcd_818
|
UTSW |
11 |
121,387,937 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0066:Tbcd
|
UTSW |
11 |
121,394,590 (GRCm39) |
nonsense |
probably null |
|
R0066:Tbcd
|
UTSW |
11 |
121,394,590 (GRCm39) |
nonsense |
probably null |
|
R0077:Tbcd
|
UTSW |
11 |
121,485,100 (GRCm39) |
missense |
probably benign |
0.00 |
R0349:Tbcd
|
UTSW |
11 |
121,493,809 (GRCm39) |
splice site |
probably null |
|
R0865:Tbcd
|
UTSW |
11 |
121,493,815 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1203:Tbcd
|
UTSW |
11 |
121,366,451 (GRCm39) |
missense |
probably benign |
0.00 |
R1221:Tbcd
|
UTSW |
11 |
121,387,909 (GRCm39) |
missense |
probably benign |
0.00 |
R1549:Tbcd
|
UTSW |
11 |
121,451,579 (GRCm39) |
missense |
probably benign |
|
R1586:Tbcd
|
UTSW |
11 |
121,387,886 (GRCm39) |
missense |
probably benign |
0.13 |
R1671:Tbcd
|
UTSW |
11 |
121,488,120 (GRCm39) |
missense |
probably benign |
0.00 |
R2048:Tbcd
|
UTSW |
11 |
121,431,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Tbcd
|
UTSW |
11 |
121,344,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R2124:Tbcd
|
UTSW |
11 |
121,494,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R2151:Tbcd
|
UTSW |
11 |
121,494,457 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2153:Tbcd
|
UTSW |
11 |
121,494,457 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3120:Tbcd
|
UTSW |
11 |
121,499,474 (GRCm39) |
missense |
probably damaging |
0.97 |
R4108:Tbcd
|
UTSW |
11 |
121,384,637 (GRCm39) |
missense |
probably benign |
0.00 |
R4244:Tbcd
|
UTSW |
11 |
121,485,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4587:Tbcd
|
UTSW |
11 |
121,496,097 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4684:Tbcd
|
UTSW |
11 |
121,384,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R4837:Tbcd
|
UTSW |
11 |
121,473,611 (GRCm39) |
critical splice donor site |
probably null |
|
R4861:Tbcd
|
UTSW |
11 |
121,492,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4861:Tbcd
|
UTSW |
11 |
121,492,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4960:Tbcd
|
UTSW |
11 |
121,464,681 (GRCm39) |
missense |
probably benign |
0.03 |
R5157:Tbcd
|
UTSW |
11 |
121,500,853 (GRCm39) |
missense |
probably benign |
0.14 |
R5166:Tbcd
|
UTSW |
11 |
121,500,216 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5406:Tbcd
|
UTSW |
11 |
121,342,927 (GRCm39) |
missense |
probably benign |
|
R5509:Tbcd
|
UTSW |
11 |
121,492,838 (GRCm39) |
missense |
probably benign |
0.00 |
R5767:Tbcd
|
UTSW |
11 |
121,483,518 (GRCm39) |
missense |
probably benign |
0.00 |
R5923:Tbcd
|
UTSW |
11 |
121,470,978 (GRCm39) |
missense |
probably benign |
|
R5966:Tbcd
|
UTSW |
11 |
121,492,737 (GRCm39) |
intron |
probably benign |
|
R6330:Tbcd
|
UTSW |
11 |
121,387,912 (GRCm39) |
missense |
probably benign |
|
R6539:Tbcd
|
UTSW |
11 |
121,447,813 (GRCm39) |
critical splice donor site |
probably null |
|
R6852:Tbcd
|
UTSW |
11 |
121,500,206 (GRCm39) |
missense |
probably benign |
0.36 |
R6859:Tbcd
|
UTSW |
11 |
121,387,937 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7348:Tbcd
|
UTSW |
11 |
121,485,137 (GRCm39) |
missense |
probably benign |
0.22 |
R7479:Tbcd
|
UTSW |
11 |
121,383,431 (GRCm39) |
critical splice donor site |
probably null |
|
R7679:Tbcd
|
UTSW |
11 |
121,494,534 (GRCm39) |
missense |
probably benign |
0.01 |
R8121:Tbcd
|
UTSW |
11 |
121,487,969 (GRCm39) |
splice site |
probably null |
|
R8163:Tbcd
|
UTSW |
11 |
121,384,711 (GRCm39) |
missense |
probably benign |
0.00 |
R8165:Tbcd
|
UTSW |
11 |
121,384,711 (GRCm39) |
missense |
probably benign |
0.00 |
R8172:Tbcd
|
UTSW |
11 |
121,384,711 (GRCm39) |
missense |
probably benign |
0.00 |
R8973:Tbcd
|
UTSW |
11 |
121,387,679 (GRCm39) |
unclassified |
probably benign |
|
R8975:Tbcd
|
UTSW |
11 |
121,387,679 (GRCm39) |
unclassified |
probably benign |
|
R9314:Tbcd
|
UTSW |
11 |
121,487,297 (GRCm39) |
missense |
probably benign |
0.01 |
R9345:Tbcd
|
UTSW |
11 |
121,464,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R9556:Tbcd
|
UTSW |
11 |
121,467,053 (GRCm39) |
missense |
probably damaging |
0.96 |
R9673:Tbcd
|
UTSW |
11 |
121,464,647 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tbcd
|
UTSW |
11 |
121,481,232 (GRCm39) |
missense |
probably null |
0.14 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGATGAGCAGTGACATACC -3'
(R):5'- ATTTCTCCAGCGTGTACCGTG -3'
Sequencing Primer
(F):5'- TGAGCAGTGACATACCAGGTG -3'
(R):5'- TACCGTGCAGGATGAACTTG -3'
|
Posted On |
2016-09-06 |