Incidental Mutation 'R1221:Tbcd'
ID |
100125 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbcd
|
Ensembl Gene |
ENSMUSG00000039230 |
Gene Name |
tubulin-specific chaperone d |
Synonyms |
2310057L06Rik, A030005L14Rik |
MMRRC Submission |
039290-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R1221 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121387909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 347
(T347A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
[ENSMUST00000106093]
|
AlphaFold |
Q8BYA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103013
AA Change: T347A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099302 Gene: ENSMUSG00000039230 AA Change: T347A
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: ENSMUST00000106093
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,942,460 (GRCm39) |
S668P |
unknown |
Het |
Anks1 |
A |
G |
17: 28,269,616 (GRCm39) |
Q770R |
possibly damaging |
Het |
Apc2 |
G |
A |
10: 80,142,214 (GRCm39) |
V378I |
probably damaging |
Het |
Apeh |
A |
G |
9: 107,969,808 (GRCm39) |
V184A |
probably benign |
Het |
AU018091 |
A |
G |
7: 3,208,717 (GRCm39) |
F404S |
probably damaging |
Het |
Bap1 |
T |
C |
14: 30,979,608 (GRCm39) |
L537P |
probably damaging |
Het |
Bhlha15 |
A |
G |
5: 144,128,341 (GRCm39) |
Y151C |
probably damaging |
Het |
Bmp8b |
A |
T |
4: 123,008,504 (GRCm39) |
T157S |
probably damaging |
Het |
Btbd1 |
G |
T |
7: 81,468,005 (GRCm39) |
H172N |
possibly damaging |
Het |
C1rl |
A |
G |
6: 124,470,940 (GRCm39) |
R83G |
probably benign |
Het |
Cep104 |
A |
G |
4: 154,072,902 (GRCm39) |
T387A |
probably benign |
Het |
Cfi |
A |
T |
3: 129,666,618 (GRCm39) |
Q447L |
probably damaging |
Het |
Cimap1a |
G |
T |
7: 140,428,296 (GRCm39) |
W10L |
probably damaging |
Het |
Coq6 |
A |
G |
12: 84,418,301 (GRCm39) |
E295G |
possibly damaging |
Het |
Dclre1a |
T |
C |
19: 56,519,700 (GRCm39) |
T978A |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,051,985 (GRCm39) |
D582G |
probably benign |
Het |
Dlgap2 |
A |
G |
8: 14,776,952 (GRCm39) |
T65A |
probably benign |
Het |
Dock5 |
G |
A |
14: 67,996,610 (GRCm39) |
S1711L |
probably benign |
Het |
Drc3 |
A |
C |
11: 60,275,052 (GRCm39) |
I338L |
probably benign |
Het |
Dsc1 |
A |
T |
18: 20,247,599 (GRCm39) |
C5* |
probably null |
Het |
F5 |
A |
G |
1: 163,989,368 (GRCm39) |
Y90C |
probably damaging |
Het |
Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
Gm136 |
G |
T |
4: 34,744,127 (GRCm39) |
A239E |
possibly damaging |
Het |
Gm4952 |
A |
T |
19: 12,601,059 (GRCm39) |
D93V |
possibly damaging |
Het |
Gramd1c |
T |
C |
16: 43,810,227 (GRCm39) |
T454A |
possibly damaging |
Het |
Gstm6 |
A |
G |
3: 107,848,418 (GRCm39) |
I58T |
probably damaging |
Het |
Kdm3b |
C |
T |
18: 34,941,298 (GRCm39) |
S263L |
possibly damaging |
Het |
Kdm5b |
G |
C |
1: 134,526,829 (GRCm39) |
S317T |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,777,546 (GRCm39) |
R71G |
possibly damaging |
Het |
Nlrp1b |
G |
A |
11: 71,072,290 (GRCm39) |
P518S |
probably benign |
Het |
Nme5 |
A |
T |
18: 34,704,575 (GRCm39) |
I90N |
probably damaging |
Het |
Nrxn1 |
T |
A |
17: 90,950,722 (GRCm39) |
T478S |
probably damaging |
Het |
Or8g22 |
A |
C |
9: 38,958,483 (GRCm39) |
D77E |
probably damaging |
Het |
Osmr |
G |
A |
15: 6,853,042 (GRCm39) |
Q617* |
probably null |
Het |
Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
Pdpn |
G |
A |
4: 143,000,608 (GRCm39) |
R75C |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,018,725 (GRCm39) |
F842Y |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,227,719 (GRCm39) |
V255E |
probably benign |
Het |
Sema3a |
A |
G |
5: 13,566,190 (GRCm39) |
Q158R |
probably benign |
Het |
Setbp1 |
T |
A |
18: 78,899,798 (GRCm39) |
R1290W |
probably damaging |
Het |
Slc20a1 |
G |
A |
2: 129,050,324 (GRCm39) |
G494D |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,889,584 (GRCm39) |
E151G |
possibly damaging |
Het |
Stt3b |
A |
G |
9: 115,086,567 (GRCm39) |
F351L |
probably benign |
Het |
Tas1r2 |
A |
G |
4: 139,396,436 (GRCm39) |
M592V |
probably benign |
Het |
Tmem109 |
C |
A |
19: 10,851,733 (GRCm39) |
R37L |
possibly damaging |
Het |
Tmem67 |
G |
A |
4: 12,045,871 (GRCm39) |
S862L |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,781,857 (GRCm39) |
D1017V |
probably damaging |
Het |
Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,644,813 (GRCm39) |
S1130G |
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 |
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 |
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'- ACGTATAGGTGTTGCCATTGCCTTC -3'
(R):5'- GTCACTGACCACATGCTAGGTGAG -3'
Sequencing Primer
(F):5'- GCTGTAGAAGGCTCTTCAGAATC -3'
(R):5'- CACATGCTAGGTGAGGTAGCAG -3'
|
Posted On |
2014-01-15 |