Incidental Mutation 'IGL01432:Tbcd'
ID |
84210 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbcd
|
Ensembl Gene |
ENSMUSG00000039230 |
Gene Name |
tubulin-specific chaperone d |
Synonyms |
2310057L06Rik, A030005L14Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
IGL01432
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 121366506 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 |
|
Coding Region Coverage |
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh9a1 |
T |
C |
1: 167,183,354 (GRCm39) |
S191P |
probably damaging |
Het |
Aldoart2 |
A |
T |
12: 55,612,566 (GRCm39) |
I164F |
probably damaging |
Het |
Anapc1 |
C |
A |
2: 128,475,328 (GRCm39) |
A1384S |
probably damaging |
Het |
Arid5a |
T |
G |
1: 36,358,514 (GRCm39) |
S429A |
possibly damaging |
Het |
Asxl1 |
A |
G |
2: 153,242,125 (GRCm39) |
K892E |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,057,908 (GRCm39) |
V3166E |
possibly damaging |
Het |
Bpnt1 |
G |
A |
1: 185,086,218 (GRCm39) |
W261* |
probably null |
Het |
Calu |
A |
G |
6: 29,356,552 (GRCm39) |
D26G |
possibly damaging |
Het |
Ccdc113 |
C |
T |
8: 96,264,885 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
C |
9: 78,605,405 (GRCm39) |
Y1003H |
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,831,033 (GRCm39) |
K290R |
probably damaging |
Het |
Cep131 |
G |
A |
11: 119,967,835 (GRCm39) |
A140V |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,418,015 (GRCm39) |
I81M |
possibly damaging |
Het |
Chn1 |
A |
T |
2: 73,462,096 (GRCm39) |
C236S |
probably damaging |
Het |
Cntn4 |
T |
A |
6: 106,655,295 (GRCm39) |
|
probably benign |
Het |
Crispld1 |
A |
T |
1: 17,817,025 (GRCm39) |
Q194L |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,596,895 (GRCm39) |
V1981A |
probably damaging |
Het |
Cttn |
A |
G |
7: 144,015,043 (GRCm39) |
I55T |
probably damaging |
Het |
Ddx46 |
G |
T |
13: 55,785,835 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
A |
T |
18: 38,030,557 (GRCm39) |
I299N |
unknown |
Het |
Dll1 |
A |
G |
17: 15,588,768 (GRCm39) |
Y636H |
probably damaging |
Het |
Eng |
A |
T |
2: 32,559,544 (GRCm39) |
Q111L |
possibly damaging |
Het |
Exoc6 |
T |
C |
19: 37,578,324 (GRCm39) |
V389A |
possibly damaging |
Het |
Fbxw26 |
T |
A |
9: 109,547,043 (GRCm39) |
T461S |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,268,434 (GRCm39) |
Y1269H |
probably damaging |
Het |
Gm5852 |
A |
G |
3: 93,635,086 (GRCm39) |
Y90H |
possibly damaging |
Het |
Gnrhr |
C |
T |
5: 86,330,052 (GRCm39) |
G323R |
probably damaging |
Het |
Gpr155 |
T |
A |
2: 73,182,229 (GRCm39) |
E661D |
possibly damaging |
Het |
Grik4 |
A |
T |
9: 42,432,472 (GRCm39) |
C842S |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,216,519 (GRCm39) |
|
probably benign |
Het |
Kif5c |
A |
G |
2: 49,591,089 (GRCm39) |
T314A |
probably damaging |
Het |
Klhdc1 |
A |
C |
12: 69,298,751 (GRCm39) |
K112T |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,720,393 (GRCm39) |
T3865A |
unknown |
Het |
Lgr5 |
T |
C |
10: 115,288,997 (GRCm39) |
K477R |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,206,351 (GRCm39) |
L106Q |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,675,655 (GRCm39) |
M26K |
probably damaging |
Het |
Mettl2 |
T |
C |
11: 105,017,348 (GRCm39) |
V9A |
probably benign |
Het |
Mgat5b |
A |
G |
11: 116,864,202 (GRCm39) |
D456G |
probably benign |
Het |
Mstn |
A |
G |
1: 53,105,689 (GRCm39) |
T344A |
possibly damaging |
Het |
Npr1 |
T |
A |
3: 90,370,543 (GRCm39) |
I308F |
possibly damaging |
Het |
Oasl1 |
G |
A |
5: 115,075,466 (GRCm39) |
V509M |
probably benign |
Het |
Obscn |
T |
C |
11: 58,924,583 (GRCm39) |
M5727V |
probably benign |
Het |
Or2d4 |
T |
C |
7: 106,543,748 (GRCm39) |
I153M |
possibly damaging |
Het |
Or4c114 |
T |
A |
2: 88,904,545 (GRCm39) |
I297F |
probably benign |
Het |
Or4k15c |
T |
A |
14: 50,321,404 (GRCm39) |
T245S |
probably benign |
Het |
Or5an1c |
A |
G |
19: 12,218,891 (GRCm39) |
S45P |
probably damaging |
Het |
Pcgf1 |
T |
C |
6: 83,055,398 (GRCm39) |
I11T |
possibly damaging |
Het |
Phactr3 |
T |
C |
2: 177,924,893 (GRCm39) |
V276A |
probably benign |
Het |
Pla2g6 |
A |
T |
15: 79,202,168 (GRCm39) |
M1K |
probably null |
Het |
Plec |
T |
C |
15: 76,074,728 (GRCm39) |
E413G |
probably damaging |
Het |
Plxna2 |
G |
T |
1: 194,326,626 (GRCm39) |
A187S |
possibly damaging |
Het |
Polq |
A |
T |
16: 36,892,184 (GRCm39) |
|
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,143,202 (GRCm39) |
K139E |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,541,216 (GRCm39) |
D240G |
probably benign |
Het |
Ptpn12 |
A |
T |
5: 21,203,553 (GRCm39) |
Y408* |
probably null |
Het |
Ptprt |
A |
G |
2: 162,109,999 (GRCm39) |
|
probably benign |
Het |
Rnf6 |
A |
T |
5: 146,152,931 (GRCm39) |
S95T |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,866,090 (GRCm39) |
S287G |
possibly damaging |
Het |
Samd4b |
A |
G |
7: 28,113,491 (GRCm39) |
F158S |
possibly damaging |
Het |
Slco1a5 |
T |
A |
6: 142,182,012 (GRCm39) |
I571L |
possibly damaging |
Het |
Smchd1 |
T |
C |
17: 71,738,285 (GRCm39) |
T527A |
probably damaging |
Het |
Smg9 |
T |
C |
7: 24,120,691 (GRCm39) |
|
probably null |
Het |
Snx25 |
A |
G |
8: 46,558,197 (GRCm39) |
L270P |
probably damaging |
Het |
Ssh1 |
G |
T |
5: 114,096,883 (GRCm39) |
T165N |
probably benign |
Het |
Stk24 |
T |
A |
14: 121,540,218 (GRCm39) |
E127V |
probably damaging |
Het |
Suco |
A |
G |
1: 161,661,689 (GRCm39) |
V914A |
probably damaging |
Het |
Tbcel |
A |
T |
9: 42,355,817 (GRCm39) |
L114Q |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,884,767 (GRCm39) |
D816G |
probably benign |
Het |
Uhrf1 |
G |
A |
17: 56,625,250 (GRCm39) |
V566M |
probably damaging |
Het |
Ulk4 |
T |
A |
9: 121,095,367 (GRCm39) |
E95D |
probably damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,201 (GRCm39) |
M6T |
probably benign |
Het |
Vmn2r59 |
C |
T |
7: 41,661,983 (GRCm39) |
V611I |
possibly damaging |
Het |
Vwde |
G |
T |
6: 13,193,239 (GRCm39) |
H367N |
probably benign |
Het |
Xpo6 |
A |
G |
7: 125,723,553 (GRCm39) |
V585A |
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 |
|
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 |
|
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 |
|
Posted On |
2013-11-11 |