Incidental Mutation 'R2048:Tbcd'
ID |
222257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbcd
|
Ensembl Gene |
ENSMUSG00000039230 |
Gene Name |
tubulin-specific chaperone d |
Synonyms |
2310057L06Rik, A030005L14Rik |
MMRRC Submission |
040055-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R2048 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 121431762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 470
(C470F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
AlphaFold |
Q8BYA0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103013
AA Change: C470F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099302 Gene: ENSMUSG00000039230 AA Change: C470F
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: ENSMUST00000147560
|
Meta Mutation Damage Score |
0.9525 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (52/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
A |
G |
9: 70,647,357 (GRCm39) |
D19G |
possibly damaging |
Het |
Adhfe1 |
A |
G |
1: 9,633,778 (GRCm39) |
K342R |
probably benign |
Het |
Adk |
A |
G |
14: 21,368,244 (GRCm39) |
N223S |
probably damaging |
Het |
Aff4 |
A |
G |
11: 53,289,212 (GRCm39) |
S454G |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,984,420 (GRCm39) |
N1901K |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,819,755 (GRCm39) |
T1578A |
probably benign |
Het |
Ccdc63 |
A |
C |
5: 122,268,350 (GRCm39) |
|
probably null |
Het |
Ceacam1 |
G |
T |
7: 25,176,113 (GRCm39) |
S27Y |
probably benign |
Het |
Cit |
T |
C |
5: 116,024,872 (GRCm39) |
|
probably null |
Het |
Cntn4 |
A |
G |
6: 106,414,825 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
A |
G |
15: 82,676,928 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
A |
T |
5: 137,908,237 (GRCm39) |
V204E |
probably damaging |
Het |
Cyp51 |
G |
A |
5: 4,136,636 (GRCm39) |
|
probably benign |
Het |
Dipk1a |
T |
C |
5: 108,057,886 (GRCm39) |
D179G |
probably damaging |
Het |
Epb41l4b |
T |
G |
4: 57,142,866 (GRCm39) |
E96D |
probably benign |
Het |
Epg5 |
A |
G |
18: 78,067,202 (GRCm39) |
E2221G |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,146,169 (GRCm39) |
N597K |
probably damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Fsip1 |
C |
A |
2: 118,072,197 (GRCm39) |
E195D |
probably damaging |
Het |
Gm10152 |
T |
C |
7: 144,317,049 (GRCm39) |
F35L |
unknown |
Het |
Gtpbp6 |
A |
C |
5: 110,254,931 (GRCm39) |
V87G |
probably damaging |
Het |
Hal |
A |
G |
10: 93,327,002 (GRCm39) |
T176A |
probably damaging |
Het |
Il12rb2 |
G |
T |
6: 67,337,529 (GRCm39) |
N117K |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,072,680 (GRCm39) |
V734A |
probably benign |
Het |
Klf7 |
A |
G |
1: 64,117,913 (GRCm39) |
V228A |
possibly damaging |
Het |
Kng1 |
A |
G |
16: 22,877,354 (GRCm39) |
Y54C |
probably damaging |
Het |
Lpcat2 |
T |
G |
8: 93,596,471 (GRCm39) |
N169K |
possibly damaging |
Het |
Magohb |
A |
T |
6: 131,266,385 (GRCm39) |
S40R |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,633,363 (GRCm39) |
D186G |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,469,960 (GRCm39) |
|
probably null |
Het |
Myh15 |
A |
G |
16: 48,975,928 (GRCm39) |
D1332G |
probably damaging |
Het |
Myh9 |
G |
A |
15: 77,655,332 (GRCm39) |
T1208M |
possibly damaging |
Het |
Ncor2 |
C |
T |
5: 125,161,996 (GRCm39) |
R426H |
unknown |
Het |
Nradd |
T |
C |
9: 110,450,697 (GRCm39) |
E160G |
probably benign |
Het |
Or10u4 |
G |
A |
10: 129,801,861 (GRCm39) |
S230L |
probably damaging |
Het |
Or2a54 |
T |
A |
6: 43,093,312 (GRCm39) |
M212K |
probably benign |
Het |
Otog |
A |
T |
7: 45,937,063 (GRCm39) |
T1591S |
probably damaging |
Het |
Oxsr1 |
A |
G |
9: 119,076,140 (GRCm39) |
S389P |
probably benign |
Het |
Pde3a |
A |
G |
6: 141,434,732 (GRCm39) |
|
probably benign |
Het |
Pi4k2b |
A |
T |
5: 52,905,773 (GRCm39) |
I105L |
probably benign |
Het |
Pilrb1 |
T |
C |
5: 137,853,153 (GRCm39) |
R217G |
possibly damaging |
Het |
Poteg |
A |
T |
8: 27,946,774 (GRCm39) |
I159L |
probably benign |
Het |
Ppargc1a |
A |
G |
5: 51,705,858 (GRCm39) |
F75S |
probably damaging |
Het |
Ptk2b |
T |
G |
14: 66,409,954 (GRCm39) |
D466A |
probably benign |
Het |
Ptpn21 |
A |
G |
12: 98,655,785 (GRCm39) |
V394A |
possibly damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Shisa3 |
G |
A |
5: 67,768,651 (GRCm39) |
E184K |
possibly damaging |
Het |
Slc4a2 |
A |
G |
5: 24,636,557 (GRCm39) |
H283R |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,311,860 (GRCm39) |
S603G |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,333 (GRCm39) |
R674G |
probably benign |
Het |
Zbtb11 |
T |
A |
16: 55,818,372 (GRCm39) |
C599S |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,812,252 (GRCm39) |
R302G |
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 |
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 |
R5403:Tbcd
|
UTSW |
11 |
121,451,569 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GATGGGCTTGCTTCCCTTTCAG -3'
(R):5'- GCAGCTAGTTGTAGAGAATGGC -3'
Sequencing Primer
(F):5'- TGTTTTGTTTTGTTTTTCCTGAGCAG -3'
(R):5'- CAGCTAGTTGTAGAGAATGGCTTACC -3'
|
Posted On |
2014-08-25 |