Incidental Mutation 'R5966:Tbcd'
| ID |
472115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcd
|
| Ensembl Gene |
ENSMUSG00000039230 |
| Gene Name |
tubulin-specific chaperone d |
| Synonyms |
2310057L06Rik, A030005L14Rik |
| MMRRC Submission |
044151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R5966 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 121492737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
| AlphaFold |
Q8BYA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103013
|
| SMART Domains |
Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
94% (79/84) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
T |
10: 115,415,717 (GRCm39) |
|
probably benign |
Het |
| Acaa2 |
T |
C |
18: 74,937,223 (GRCm39) |
L369S |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,313,140 (GRCm39) |
S328P |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,719,546 (GRCm39) |
Y214C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,354,140 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,466,716 (GRCm39) |
T2160I |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,204,330 (GRCm39) |
S1251P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,573 (GRCm39) |
E488G |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,797,908 (GRCm39) |
I411F |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,297,595 (GRCm39) |
Q914* |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,566,083 (GRCm39) |
D827G |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,946,001 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
C |
15: 55,315,779 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,713,135 (GRCm39) |
D1509V |
probably damaging |
Het |
| Ddx51 |
A |
G |
5: 110,804,717 (GRCm39) |
D543G |
probably damaging |
Het |
| Diaph3 |
T |
A |
14: 87,222,261 (GRCm39) |
I408F |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,390,325 (GRCm39) |
P213L |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,262 (GRCm39) |
T3327A |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,078,817 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,546,225 (GRCm39) |
E791G |
possibly damaging |
Het |
| Ehd3 |
G |
T |
17: 74,134,356 (GRCm39) |
W238C |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,134,361 (GRCm39) |
L240R |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,824,766 (GRCm39) |
V2357A |
unknown |
Het |
| Fam20c |
T |
C |
5: 138,741,932 (GRCm39) |
V181A |
probably damaging |
Het |
| Gm4781 |
T |
C |
10: 100,232,814 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
T |
11: 102,371,058 (GRCm39) |
S827T |
unknown |
Het |
| Grm3 |
A |
T |
5: 9,561,930 (GRCm39) |
I640N |
probably damaging |
Het |
| Gstm7 |
A |
G |
3: 107,838,747 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
G |
T |
15: 97,700,372 (GRCm39) |
H572Q |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,313,735 (GRCm39) |
Q1389* |
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,893,152 (GRCm39) |
V2099A |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,888,531 (GRCm39) |
N443S |
possibly damaging |
Het |
| Impact |
A |
G |
18: 13,123,601 (GRCm39) |
K315E |
probably benign |
Het |
| Insr |
C |
A |
8: 3,308,697 (GRCm39) |
R113L |
probably benign |
Het |
| Jak2 |
T |
A |
19: 29,260,954 (GRCm39) |
Y317N |
possibly damaging |
Het |
| Kif18a |
T |
A |
2: 109,122,411 (GRCm39) |
V162E |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,762 (GRCm39) |
V319A |
unknown |
Het |
| Lepr |
T |
C |
4: 101,649,324 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,137,938 (GRCm39) |
T647I |
possibly damaging |
Het |
| Mindy3 |
C |
T |
2: 12,405,854 (GRCm39) |
R147Q |
probably benign |
Het |
| Mtr |
T |
C |
13: 12,230,453 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,576,652 (GRCm39) |
|
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,471 (GRCm39) |
T362M |
possibly damaging |
Het |
| Or1j17 |
G |
T |
2: 36,578,074 (GRCm39) |
R20L |
probably null |
Het |
| Or1q1 |
T |
C |
2: 36,886,957 (GRCm39) |
I45T |
possibly damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,222 (GRCm39) |
S276P |
probably benign |
Het |
| Ovol1 |
G |
A |
19: 5,601,630 (GRCm39) |
R131C |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,905,998 (GRCm39) |
V323A |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,295 (GRCm39) |
M134L |
probably benign |
Het |
| Pecam1 |
G |
A |
11: 106,581,887 (GRCm39) |
T252M |
probably benign |
Het |
| Rnd3 |
T |
A |
2: 51,022,536 (GRCm39) |
I169F |
probably damaging |
Het |
| Rnmt |
T |
A |
18: 68,444,689 (GRCm39) |
D219E |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,292,315 (GRCm39) |
F491L |
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,677,124 (GRCm39) |
C3242* |
probably null |
Het |
| Smurf2 |
G |
T |
11: 106,766,727 (GRCm39) |
R31S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,074,873 (GRCm39) |
I1333T |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,527,580 (GRCm39) |
C1279Y |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,704,753 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
A |
T |
1: 12,929,636 (GRCm39) |
D301V |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,712 (GRCm39) |
I566T |
probably benign |
Het |
| Tm9sf2 |
T |
A |
14: 122,374,921 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8l1 |
T |
C |
17: 56,478,799 (GRCm39) |
F30L |
probably benign |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,887,433 (GRCm39) |
C118S |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,408,959 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
T |
7: 103,790,906 (GRCm39) |
S395T |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,754,827 (GRCm39) |
D178G |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,041,222 (GRCm39) |
I1901V |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,112 (GRCm39) |
I116F |
probably benign |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Wfikkn2 |
C |
T |
11: 94,129,688 (GRCm39) |
R151H |
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 |
|
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 |
|
|
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'- GGGATTTAAGTAAAGACTGCCAGC -3'
(R):5'- CAAGGGTCAGAGAAGCTTGTC -3'
Sequencing Primer
(F):5'- TAAAGACTGCCAGCTGCTG -3'
(R):5'- CTTGTCTGAGAAGGCATTAAGGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation