Incidental Mutation 'R4587:Tbcd'
| ID |
344186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcd
|
| Ensembl Gene |
ENSMUSG00000039230 |
| Gene Name |
tubulin-specific chaperone d |
| Synonyms |
2310057L06Rik, A030005L14Rik |
| MMRRC Submission |
042006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121496097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1044
(V1044A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
| AlphaFold |
Q8BYA0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103013
AA Change: V1044A
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: V1044A
| 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 |
noncoding transcript
Transcript: ENSMUST00000139414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155666
|
| Meta Mutation Damage Score |
0.1416 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (47/47) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
C |
17: 35,320,063 (GRCm39) |
|
probably null |
Het |
| Adsl |
T |
C |
15: 80,851,968 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
T |
C |
9: 32,172,241 (GRCm39) |
S1674P |
probably benign |
Het |
| Cd244a |
T |
G |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
| Ceacam23 |
C |
T |
7: 17,620,149 (GRCm39) |
L18F |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,751,932 (GRCm39) |
Y401H |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,763,134 (GRCm39) |
V2320F |
possibly damaging |
Het |
| Chrd |
A |
G |
16: 20,557,325 (GRCm39) |
E670G |
possibly damaging |
Het |
| Ckap2 |
A |
G |
8: 22,666,992 (GRCm39) |
S290P |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,751,680 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
C |
T |
4: 47,257,184 (GRCm39) |
T325M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,230,636 (GRCm39) |
I971T |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,304,745 (GRCm39) |
F1652S |
probably damaging |
Het |
| Dok6 |
T |
C |
18: 89,319,320 (GRCm39) |
Q312R |
probably benign |
Het |
| Glis1 |
C |
A |
4: 107,484,740 (GRCm39) |
H600N |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,704 (GRCm39) |
D648G |
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,632,052 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,443,504 (GRCm39) |
D729G |
possibly damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Nf1 |
T |
A |
11: 79,426,863 (GRCm39) |
|
probably null |
Het |
| Nom1 |
T |
C |
5: 29,656,163 (GRCm39) |
S843P |
possibly damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,045 (GRCm39) |
I302T |
probably benign |
Het |
| Pex14 |
A |
G |
4: 149,048,021 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,091,531 (GRCm39) |
T523A |
possibly damaging |
Het |
| Rasip1 |
T |
C |
7: 45,282,159 (GRCm39) |
V554A |
possibly damaging |
Het |
| Ric3 |
A |
T |
7: 108,653,570 (GRCm39) |
|
probably null |
Het |
| Skint4 |
G |
A |
4: 111,944,221 (GRCm39) |
C11Y |
probably damaging |
Het |
| Smr2 |
G |
A |
5: 88,256,631 (GRCm39) |
R103H |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,034,020 (GRCm39) |
Y102C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,473 (GRCm39) |
F356I |
probably damaging |
Het |
| Tecpr1 |
C |
G |
5: 144,149,408 (GRCm39) |
V340L |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,281,295 (GRCm39) |
I22V |
probably damaging |
Het |
| Trim30a |
G |
A |
7: 104,084,851 (GRCm39) |
R120* |
probably null |
Het |
| Trim72 |
A |
G |
7: 127,607,164 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,695,648 (GRCm39) |
N255Y |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Wnt7a |
A |
T |
6: 91,343,324 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
C |
T |
17: 21,685,178 (GRCm39) |
Q598* |
probably null |
Het |
| Zfp617 |
A |
T |
8: 72,683,003 (GRCm39) |
N51I |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,614 (GRCm39) |
C304S |
probably damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
probably 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 |
|
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'- CCATTTAGGAAGGGCTATCATGG -3'
(R):5'- GGGCAGAATCACGAGTTTGG -3'
Sequencing Primer
(F):5'- AAGGGCTATCATGGTGTTAAGG -3'
(R):5'- TTTGGAGCTAGTCTGAGCAACAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation