Incidental Mutation 'R6330:Tbcd'
ID |
510866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbcd
|
Ensembl Gene |
ENSMUSG00000039230 |
Gene Name |
tubulin-specific chaperone d |
Synonyms |
2310057L06Rik, A030005L14Rik |
MMRRC Submission |
044484-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R6330 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121387912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 348
(S348P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
[ENSMUST00000106093]
|
AlphaFold |
Q8BYA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103013
AA Change: S348P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099302 Gene: ENSMUSG00000039230 AA Change: S348P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
F7 |
C |
T |
8: 13,085,140 (GRCm39) |
H389Y |
probably damaging |
Het |
Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
Gbp7 |
A |
T |
3: 142,252,259 (GRCm39) |
Y614F |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
Mindy3 |
C |
T |
2: 12,361,744 (GRCm39) |
A333T |
probably damaging |
Het |
Mlxip |
G |
A |
5: 123,533,015 (GRCm39) |
C8Y |
probably benign |
Het |
Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
Or14j7 |
T |
C |
17: 38,234,685 (GRCm39) |
V76A |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
Orc2 |
C |
A |
1: 58,539,493 (GRCm39) |
V49L |
probably benign |
Het |
Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
Slc2a12 |
A |
G |
10: 22,540,894 (GRCm39) |
T250A |
probably benign |
Het |
Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,637,412 (GRCm39) |
Y33N |
probably damaging |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
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 |
|
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'- TGAGATTTCCGCTGGCATCATG -3'
(R):5'- TCACTGACCACATGCTAGGTG -3'
Sequencing Primer
(F):5'- CTGAGGGATGCTAAGTTGATGACATC -3'
(R):5'- CCACATGCTAGGTGAGGTAGC -3'
|
Posted On |
2018-04-02 |