Incidental Mutation 'R8973:Tbcd'
| ID |
720384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcd
|
| Ensembl Gene |
ENSMUSG00000039230 |
| Gene Name |
tubulin-specific chaperone d |
| Synonyms |
2310057L06Rik, A030005L14Rik |
| MMRRC Submission |
068807-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R8973 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to C
at 121387679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
[ENSMUST00000106093]
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (77/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
T |
13: 70,886,959 (GRCm39) |
I975N |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,570,984 (GRCm39) |
*1250Q |
probably null |
Het |
| Anapc1 |
A |
T |
2: 128,505,952 (GRCm39) |
I628N |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,578,439 (GRCm39) |
|
probably benign |
Het |
| Ankub1 |
A |
T |
3: 57,572,932 (GRCm39) |
S263R |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,024,325 (GRCm39) |
I94V |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,329,113 (GRCm39) |
D186G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,855,668 (GRCm39) |
C589* |
probably null |
Het |
| Armt1 |
T |
C |
10: 4,389,550 (GRCm39) |
L69P |
probably damaging |
Het |
| Atxn7l3 |
T |
A |
11: 102,183,598 (GRCm39) |
Y185F |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,218,142 (GRCm39) |
D159G |
probably damaging |
Het |
| Camta2 |
C |
A |
11: 70,561,184 (GRCm39) |
R1184L |
probably benign |
Het |
| Ccdc192 |
T |
G |
18: 57,725,139 (GRCm39) |
L123V |
possibly damaging |
Het |
| Ccr7 |
G |
A |
11: 99,036,649 (GRCm39) |
T91I |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,831,131 (GRCm39) |
T323A |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Clec2e |
C |
A |
6: 129,070,374 (GRCm39) |
G216* |
probably null |
Het |
| Col25a1 |
T |
C |
3: 130,269,275 (GRCm39) |
S176P |
unknown |
Het |
| Col4a3 |
A |
C |
1: 82,693,052 (GRCm39) |
I1446L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,233,277 (GRCm39) |
W1201R |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,785,000 (GRCm39) |
E823G |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,456,293 (GRCm39) |
T780A |
|
Het |
| Dchs2 |
A |
G |
3: 83,261,763 (GRCm39) |
E2677G |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,246,824 (GRCm39) |
E77G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,734 (GRCm39) |
D1416G |
probably benign |
Het |
| Dpyd |
T |
C |
3: 119,108,582 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,267,936 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dusp13b |
A |
C |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
| Emilin2 |
T |
G |
17: 71,582,079 (GRCm39) |
K216Q |
probably benign |
Het |
| Enam |
T |
C |
5: 88,641,947 (GRCm39) |
W254R |
possibly damaging |
Het |
| Esrrg |
A |
C |
1: 187,930,947 (GRCm39) |
N346T |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,479,132 (GRCm39) |
L373P |
|
Het |
| Gm21060 |
C |
A |
19: 61,285,366 (GRCm39) |
V48L |
possibly damaging |
Het |
| Gtpbp3 |
T |
C |
8: 71,943,806 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,367,699 (GRCm39) |
D171G |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,777,968 (GRCm39) |
T242S |
probably benign |
Het |
| Inf2 |
G |
T |
12: 112,573,949 (GRCm39) |
C751F |
unknown |
Het |
| Krt13 |
A |
T |
11: 100,010,264 (GRCm39) |
M239K |
possibly damaging |
Het |
| Lrrc72 |
A |
G |
12: 36,303,293 (GRCm39) |
S7P |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,433,196 (GRCm39) |
I867V |
probably benign |
Het |
| Mdh2 |
C |
T |
5: 135,819,019 (GRCm39) |
A325V |
possibly damaging |
Het |
| Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
| Mrpl16 |
A |
T |
19: 11,750,307 (GRCm39) |
R64* |
probably null |
Het |
| Nav1 |
T |
C |
1: 135,512,463 (GRCm39) |
D199G |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,585 (GRCm39) |
V662A |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,931,321 (GRCm38) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,487 (GRCm39) |
S91P |
probably damaging |
Het |
| Or5t18 |
C |
A |
2: 86,637,200 (GRCm39) |
V48F |
probably benign |
Het |
| Or7g12 |
C |
A |
9: 18,899,974 (GRCm39) |
S230* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,958,839 (GRCm39) |
V107D |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,838,940 (GRCm39) |
S617R |
probably benign |
Het |
| Pde10a |
C |
A |
17: 9,143,071 (GRCm39) |
Q6K |
probably benign |
Het |
| Pigq |
A |
C |
17: 26,151,141 (GRCm39) |
M396R |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,449,833 (GRCm39) |
D3865E |
probably damaging |
Het |
| Prag1 |
C |
T |
8: 36,566,744 (GRCm39) |
|
probably benign |
Het |
| Rbis |
C |
T |
3: 14,672,305 (GRCm39) |
V97I |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,016,728 (GRCm39) |
T498A |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,352,756 (GRCm39) |
F3921I |
|
Het |
| Rpp14 |
A |
G |
14: 8,088,768 (GRCm38) |
S95G |
probably benign |
Het |
| Ryk |
T |
G |
9: 102,739,120 (GRCm39) |
Y78D |
possibly damaging |
Het |
| Sez6 |
A |
T |
11: 77,865,397 (GRCm39) |
Q678L |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,402 (GRCm39) |
K141E |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,943,202 (GRCm39) |
I609K |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,538 (GRCm39) |
F244L |
probably damaging |
Het |
| Spata31e1 |
A |
T |
13: 49,941,715 (GRCm39) |
D80E |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,911,572 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Syne3 |
A |
G |
12: 104,925,654 (GRCm39) |
|
probably null |
Het |
| Tektip1 |
T |
C |
10: 81,199,849 (GRCm39) |
D129G |
unknown |
Het |
| Tmc1 |
A |
T |
19: 20,878,215 (GRCm39) |
N93K |
probably benign |
Het |
| Tmem100 |
T |
A |
11: 89,926,302 (GRCm39) |
M43K |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,836,039 (GRCm39) |
V690D |
probably damaging |
Het |
| Trim8 |
A |
G |
19: 46,503,903 (GRCm39) |
Q485R |
possibly damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,919 (GRCm39) |
H206Q |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,452,150 (GRCm39) |
N443K |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,387,578 (GRCm39) |
I4878F |
unknown |
Het |
| Zfand4 |
A |
G |
6: 116,291,041 (GRCm39) |
D344G |
probably benign |
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 |
|
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'- TTTCTTGTTCCCAGGCAAGTG -3'
(R):5'- CTTCAGGTTAGCAGCCAAAGAC -3'
Sequencing Primer
(F):5'- GAGATCCCTTTTGCCTGGGC -3'
(R):5'- GTTAGCAGCCAAAGACCGACAG -3'
|
| Posted On |
2022-07-29 |
Incidental Mutation