Incidental Mutation 'R8121:Tbcd'
| ID |
643756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcd
|
| Ensembl Gene |
ENSMUSG00000039230 |
| Gene Name |
tubulin-specific chaperone d |
| Synonyms |
2310057L06Rik, A030005L14Rik |
| MMRRC Submission |
067550-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R8121 (G1)
|
| Quality Score |
165.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 121487969 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 null
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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
T |
6: 83,138,893 (GRCm39) |
M273L |
probably benign |
Het |
| Abi3bp |
A |
T |
16: 56,452,241 (GRCm39) |
K912N |
unknown |
Het |
| Arfgap2 |
T |
C |
2: 91,096,028 (GRCm39) |
F62L |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,853,909 (GRCm39) |
E141G |
probably damaging |
Het |
| Atraid |
G |
A |
5: 31,211,642 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
A |
3: 100,927,898 (GRCm39) |
A65V |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,459,067 (GRCm39) |
V114A |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,044,757 (GRCm39) |
N455S |
probably damaging |
Het |
| Cdk14 |
A |
T |
5: 5,277,195 (GRCm39) |
S145T |
possibly damaging |
Het |
| Ces1h |
T |
C |
8: 94,080,104 (GRCm39) |
E470G |
unknown |
Het |
| Cfap58 |
A |
G |
19: 48,017,543 (GRCm39) |
Y801C |
probably benign |
Het |
| Clec2d |
C |
T |
6: 129,161,847 (GRCm39) |
T160M |
probably benign |
Het |
| Cryz |
A |
G |
3: 154,327,382 (GRCm39) |
I269V |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,499,223 (GRCm39) |
Y240N |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,909,212 (GRCm39) |
Y1275C |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,908,201 (GRCm39) |
I2385T |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,985,362 (GRCm39) |
M807V |
probably benign |
Het |
| Entpd3 |
T |
A |
9: 120,384,720 (GRCm39) |
I99N |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,670,646 (GRCm39) |
E204G |
possibly damaging |
Het |
| Fscn1 |
T |
C |
5: 142,946,616 (GRCm39) |
M138T |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,057,552 (GRCm39) |
Q689L |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,861,076 (GRCm39) |
N350S |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,196,809 (GRCm39) |
C108S |
probably damaging |
Het |
| Krtap10-4 |
G |
A |
10: 77,662,840 (GRCm39) |
R13C |
unknown |
Het |
| Lmo7 |
T |
C |
14: 102,163,736 (GRCm39) |
I1527T |
unknown |
Het |
| Lrrc17 |
A |
G |
5: 21,775,329 (GRCm39) |
K297R |
probably benign |
Het |
| Ltb4r1 |
G |
A |
14: 56,005,579 (GRCm39) |
R294H |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,324 (GRCm39) |
D364G |
probably damaging |
Het |
| Mavs |
A |
C |
2: 131,087,395 (GRCm39) |
T298P |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,180,647 (GRCm39) |
A628S |
probably benign |
Het |
| Neurl4 |
A |
T |
11: 69,799,056 (GRCm39) |
|
probably null |
Het |
| Nicn1 |
C |
A |
9: 108,172,304 (GRCm39) |
T213K |
probably damaging |
Het |
| Nptx1 |
G |
A |
11: 119,433,492 (GRCm39) |
T369I |
probably damaging |
Het |
| Nt5c1a |
T |
C |
4: 123,102,235 (GRCm39) |
S54P |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,022,428 (GRCm39) |
R132Q |
probably damaging |
Het |
| Or2b11 |
A |
T |
11: 59,461,870 (GRCm39) |
I232N |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,505 (GRCm39) |
T7A |
probably benign |
Het |
| Or4p18 |
A |
T |
2: 88,233,040 (GRCm39) |
F79L |
probably benign |
Het |
| Or7g22 |
G |
A |
9: 19,048,988 (GRCm39) |
G233E |
probably damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,337,355 (GRCm39) |
I311N |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,699,655 (GRCm39) |
V2094I |
probably benign |
Het |
| Pla2g2f |
A |
G |
4: 138,479,621 (GRCm39) |
Y179H |
probably damaging |
Het |
| Plekha3 |
A |
T |
2: 76,516,992 (GRCm39) |
T115S |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,496 (GRCm39) |
L167P |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,691,611 (GRCm39) |
S371C |
probably benign |
Het |
| Rarg |
A |
G |
15: 102,148,393 (GRCm39) |
I238T |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,531,203 (GRCm39) |
I558N |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,649,215 (GRCm39) |
H655N |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,064,201 (GRCm39) |
M285V |
probably benign |
Het |
| Setx |
T |
A |
2: 29,035,046 (GRCm39) |
S510R |
possibly damaging |
Het |
| Sgcz |
A |
G |
8: 37,990,457 (GRCm39) |
S299P |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,032,403 (GRCm39) |
F368I |
probably benign |
Het |
| Slc7a9 |
C |
A |
7: 35,153,542 (GRCm39) |
T181K |
probably damaging |
Het |
| Slco2b1 |
G |
A |
7: 99,334,760 (GRCm39) |
T237M |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,900,348 (GRCm39) |
|
probably null |
Het |
| Tbc1d22b |
G |
T |
17: 29,791,945 (GRCm39) |
G225V |
probably damaging |
Het |
| Unc93a |
T |
C |
17: 13,328,560 (GRCm39) |
Y431C |
probably benign |
Het |
| Vmn1r65 |
C |
T |
7: 6,011,464 (GRCm39) |
V257I |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,282,433 (GRCm39) |
T154S |
probably benign |
Het |
| Wnk2 |
A |
T |
13: 49,214,415 (GRCm39) |
L1487* |
probably null |
Het |
| Zfp853 |
G |
A |
5: 143,274,018 (GRCm39) |
A549V |
probably damaging |
Het |
| Zfp936 |
C |
T |
7: 42,839,547 (GRCm39) |
T338I |
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 |
|
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'- TAGATGCAGTGTGTAGGGCC -3'
(R):5'- TGCAGCATAAACCTCAGAGATG -3'
Sequencing Primer
(F):5'- GTAGGGCCATGTATGCCTC -3'
(R):5'- GCATAAACCTCAGAGATGTTCTC -3'
|
| Posted On |
2020-08-12 |
Incidental Mutation