Incidental Mutation 'R9314:Tbcd'
ID |
705800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbcd
|
Ensembl Gene |
ENSMUSG00000039230 |
Gene Name |
tubulin-specific chaperone d |
Synonyms |
2310057L06Rik, A030005L14Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R9314 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121487297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 803
(V803A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
AlphaFold |
Q8BYA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103013
AA Change: V803A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000099302 Gene: ENSMUSG00000039230 AA Change: V803A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
C |
17: 24,547,593 (GRCm39) |
N260K |
possibly damaging |
Het |
Anapc1 |
G |
A |
2: 128,464,420 (GRCm39) |
S1692L |
possibly damaging |
Het |
Brca2 |
A |
G |
5: 150,474,359 (GRCm39) |
R2421G |
probably damaging |
Het |
Cad |
A |
G |
5: 31,234,988 (GRCm39) |
Y2143C |
probably damaging |
Het |
Calr3 |
T |
A |
8: 73,178,535 (GRCm39) |
D356V |
possibly damaging |
Het |
Cd207 |
T |
A |
6: 83,652,699 (GRCm39) |
T144S |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,924,719 (GRCm39) |
L608P |
probably damaging |
Het |
Dnah8 |
A |
T |
17: 30,990,857 (GRCm39) |
Y3300F |
probably benign |
Het |
Emb |
T |
C |
13: 117,408,604 (GRCm39) |
I315T |
probably damaging |
Het |
Esr1 |
T |
A |
10: 4,916,181 (GRCm39) |
V456E |
possibly damaging |
Het |
Evpl |
A |
T |
11: 116,118,503 (GRCm39) |
H701Q |
probably benign |
Het |
F5 |
C |
T |
1: 164,029,146 (GRCm39) |
T1715I |
probably benign |
Het |
Fut10 |
T |
A |
8: 31,691,504 (GRCm39) |
H116Q |
probably damaging |
Het |
Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,447 (GRCm39) |
|
probably benign |
Het |
Gm5591 |
T |
C |
7: 38,221,884 (GRCm39) |
T62A |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,437,708 (GRCm39) |
|
probably null |
Het |
Ifit1bl1 |
G |
C |
19: 34,576,693 (GRCm39) |
Q3E |
probably benign |
Het |
Ighg3 |
A |
T |
12: 113,323,946 (GRCm39) |
D147E |
|
Het |
Ighv8-13 |
A |
G |
12: 115,728,996 (GRCm39) |
V87A |
possibly damaging |
Het |
Kdelr1 |
A |
G |
7: 45,531,050 (GRCm39) |
T160A |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,372,510 (GRCm39) |
L945P |
probably damaging |
Het |
Krt36 |
C |
T |
11: 99,994,227 (GRCm39) |
W283* |
probably null |
Het |
Lamp3 |
T |
C |
16: 19,492,192 (GRCm39) |
M351V |
probably benign |
Het |
Lox |
C |
G |
18: 52,653,911 (GRCm39) |
R395P |
probably damaging |
Het |
Lrrtm3 |
T |
C |
10: 63,925,499 (GRCm39) |
|
probably benign |
Het |
Madcam1 |
C |
A |
10: 79,501,481 (GRCm39) |
T182K |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,029,297 (GRCm39) |
H280Q |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,174 (GRCm39) |
I187T |
probably benign |
Het |
Muc1 |
T |
C |
3: 89,138,825 (GRCm39) |
V478A |
probably damaging |
Het |
Mug1 |
T |
G |
6: 121,834,296 (GRCm39) |
V359G |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,151,141 (GRCm39) |
H1932R |
probably benign |
Het |
Naaladl1 |
A |
C |
19: 6,162,401 (GRCm39) |
N448H |
probably damaging |
Het |
Or52b1 |
A |
T |
7: 104,979,081 (GRCm39) |
I106N |
probably damaging |
Het |
Or5a1 |
C |
T |
19: 12,097,144 (GRCm39) |
E311K |
probably benign |
Het |
Pkd1l1 |
A |
T |
11: 8,829,153 (GRCm39) |
Y1480N |
|
Het |
Poll |
T |
C |
19: 45,547,091 (GRCm39) |
E127G |
probably benign |
Het |
Ppl |
T |
C |
16: 4,922,367 (GRCm39) |
N305S |
possibly damaging |
Het |
Prss53 |
A |
G |
7: 127,490,039 (GRCm39) |
V17A |
probably benign |
Het |
Ptprj |
A |
G |
2: 90,301,631 (GRCm39) |
V74A |
possibly damaging |
Het |
Rapgef4 |
A |
T |
2: 72,064,983 (GRCm39) |
H804L |
possibly damaging |
Het |
Rassf8 |
A |
G |
6: 145,762,296 (GRCm39) |
T356A |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,786,772 (GRCm39) |
S1246P |
probably benign |
Het |
Setdb2 |
A |
T |
14: 59,650,240 (GRCm39) |
I458N |
probably benign |
Het |
Sgtb |
A |
G |
13: 104,254,933 (GRCm39) |
K68E |
possibly damaging |
Het |
Slc19a3 |
T |
G |
1: 83,000,094 (GRCm39) |
I308L |
possibly damaging |
Het |
Slc22a5 |
T |
C |
11: 53,762,487 (GRCm39) |
D320G |
possibly damaging |
Het |
Slc34a2 |
T |
C |
5: 53,218,143 (GRCm39) |
S141P |
possibly damaging |
Het |
Slc37a2 |
T |
C |
9: 37,150,482 (GRCm39) |
T158A |
possibly damaging |
Het |
Slc7a1 |
T |
C |
5: 148,269,327 (GRCm39) |
I598V |
probably benign |
Het |
Sphk2 |
T |
C |
7: 45,361,158 (GRCm39) |
D282G |
probably damaging |
Het |
Spty2d1 |
G |
T |
7: 46,648,486 (GRCm39) |
P148T |
probably damaging |
Het |
Supt3 |
A |
G |
17: 45,352,250 (GRCm39) |
T310A |
probably benign |
Het |
Supt5 |
T |
A |
7: 28,019,799 (GRCm39) |
D457V |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,070,347 (GRCm39) |
G2480R |
probably damaging |
Het |
Tex2 |
A |
T |
11: 106,435,075 (GRCm39) |
C784S |
unknown |
Het |
Thrb |
A |
G |
14: 17,963,208 (GRCm38) |
H57R |
probably benign |
Het |
Tmc4 |
T |
C |
7: 3,679,723 (GRCm39) |
T34A |
possibly damaging |
Het |
Tmprss2 |
T |
C |
16: 97,400,459 (GRCm39) |
N4S |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,195,049 (GRCm39) |
I1024M |
probably damaging |
Het |
Trnau1ap |
C |
A |
4: 132,056,697 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,566,710 (GRCm39) |
V28061A |
probably damaging |
Het |
Txnl4b |
C |
A |
8: 110,299,331 (GRCm39) |
P97Q |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,854,023 (GRCm39) |
T573A |
probably benign |
Het |
Vit |
A |
T |
17: 78,927,044 (GRCm39) |
T330S |
probably benign |
Het |
Wdr3 |
T |
C |
3: 100,050,288 (GRCm39) |
I750V |
probably benign |
Het |
Zfp59 |
C |
T |
7: 27,554,029 (GRCm39) |
L494F |
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 |
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 |
|
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'- CATGGCTACTGTGCTCTGTG -3'
(R):5'- ATGTTCCCTGACATTGCACTG -3'
Sequencing Primer
(F):5'- GAAGCGTGTTGATAGCCACACTC -3'
(R):5'- TGTTCCCTGACATTGCACTGAAAAC -3'
|
Posted On |
2022-03-25 |