Incidental Mutation 'R7348:Tbcd'
ID |
570375 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbcd
|
Ensembl Gene |
ENSMUSG00000039230 |
Gene Name |
tubulin-specific chaperone d |
Synonyms |
2310057L06Rik, A030005L14Rik |
MMRRC Submission |
045380-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R7348 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 121485137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 773
(A773D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
AlphaFold |
Q8BYA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103013
AA Change: A773D
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099302 Gene: ENSMUSG00000039230 AA Change: A773D
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
99% (80/81) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abra |
G |
A |
15: 41,729,555 (GRCm39) |
R282C |
probably damaging |
Het |
Adcy2 |
T |
A |
13: 68,882,794 (GRCm39) |
E314D |
possibly damaging |
Het |
Adgrl2 |
A |
T |
3: 148,523,402 (GRCm39) |
I274N |
|
Het |
Adpgk |
A |
G |
9: 59,221,069 (GRCm39) |
I292V |
probably benign |
Het |
Agtrap |
G |
T |
4: 148,165,054 (GRCm39) |
F124L |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,485,525 (GRCm39) |
Y1450H |
probably damaging |
Het |
Ap4e1 |
A |
T |
2: 126,903,896 (GRCm39) |
S933C |
probably damaging |
Het |
Ap4e1 |
G |
T |
2: 126,903,897 (GRCm39) |
S933I |
possibly damaging |
Het |
Ap5s1 |
A |
T |
2: 131,054,572 (GRCm39) |
T128S |
possibly damaging |
Het |
Arih1 |
T |
C |
9: 59,393,341 (GRCm39) |
Y97C |
probably damaging |
Het |
Atp1a3 |
A |
G |
7: 24,678,251 (GRCm39) |
F1034S |
unknown |
Het |
Bmp6 |
T |
C |
13: 38,669,879 (GRCm39) |
S388P |
probably benign |
Het |
Ccdc39 |
A |
G |
3: 33,886,825 (GRCm39) |
V261A |
possibly damaging |
Het |
Ccdc66 |
C |
T |
14: 27,222,293 (GRCm39) |
C150Y |
probably damaging |
Het |
Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
Cln6 |
A |
G |
9: 62,756,458 (GRCm39) |
S201G |
probably benign |
Het |
Cntnap4 |
T |
C |
8: 113,391,909 (GRCm39) |
Y125H |
probably damaging |
Het |
Copa |
A |
G |
1: 171,929,790 (GRCm39) |
T286A |
possibly damaging |
Het |
Cul9 |
A |
T |
17: 46,821,919 (GRCm39) |
I1852K |
possibly damaging |
Het |
Cyp2j8 |
C |
A |
4: 96,332,877 (GRCm39) |
A490S |
probably benign |
Het |
Cyp2t4 |
A |
G |
7: 26,856,676 (GRCm39) |
I239V |
probably benign |
Het |
Dpcd |
A |
G |
19: 45,560,905 (GRCm39) |
Y111C |
probably damaging |
Het |
E2f7 |
C |
T |
10: 110,616,836 (GRCm39) |
T692I |
probably damaging |
Het |
Fastkd5 |
A |
G |
2: 130,457,055 (GRCm39) |
Y512H |
probably damaging |
Het |
Fastkd5 |
A |
C |
2: 130,458,359 (GRCm39) |
M77R |
probably benign |
Het |
Fhod3 |
A |
G |
18: 25,223,524 (GRCm39) |
R957G |
possibly damaging |
Het |
H6pd |
C |
A |
4: 150,068,359 (GRCm39) |
|
probably null |
Het |
Haus5 |
G |
T |
7: 30,356,391 (GRCm39) |
P544Q |
possibly damaging |
Het |
Ifi207 |
CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
1: 173,556,762 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
G |
17: 12,922,371 (GRCm39) |
Y1248H |
probably damaging |
Het |
Izumo3 |
T |
C |
4: 92,035,455 (GRCm39) |
N6S |
possibly damaging |
Het |
Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
Map3k8 |
T |
A |
18: 4,340,561 (GRCm39) |
H251L |
probably damaging |
Het |
Mapre3 |
T |
C |
5: 31,019,173 (GRCm39) |
Y6H |
probably benign |
Het |
Mlh3 |
G |
T |
12: 85,314,215 (GRCm39) |
P657Q |
probably damaging |
Het |
Mrgpra1 |
T |
C |
7: 46,985,157 (GRCm39) |
Y174C |
probably benign |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Myh1 |
C |
A |
11: 67,093,365 (GRCm39) |
P152Q |
probably damaging |
Het |
Myh6 |
A |
T |
14: 55,189,716 (GRCm39) |
L1110Q |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,427,676 (GRCm39) |
S1778T |
probably benign |
Het |
Nkpd1 |
G |
A |
7: 19,258,341 (GRCm39) |
E707K |
probably damaging |
Het |
Nlrp4a |
A |
G |
7: 26,143,698 (GRCm39) |
E21G |
probably damaging |
Het |
Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,790 (GRCm39) |
L273S |
possibly damaging |
Het |
Or5p1 |
T |
C |
7: 107,916,920 (GRCm39) |
V273A |
possibly damaging |
Het |
Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
Or7a38 |
A |
G |
10: 78,753,396 (GRCm39) |
T241A |
probably damaging |
Het |
Parg |
G |
A |
14: 31,972,036 (GRCm39) |
R677Q |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,434,182 (GRCm39) |
C1395* |
probably null |
Het |
Psd2 |
G |
A |
18: 36,113,389 (GRCm39) |
S287N |
possibly damaging |
Het |
Psd3 |
T |
C |
8: 68,243,583 (GRCm39) |
N685S |
possibly damaging |
Het |
Pygb |
C |
T |
2: 150,628,903 (GRCm39) |
T39M |
probably benign |
Het |
Rbfox1 |
C |
A |
16: 7,225,888 (GRCm39) |
Y351* |
probably null |
Het |
Rftn1 |
A |
G |
17: 50,311,351 (GRCm39) |
L396P |
probably damaging |
Het |
S1pr1 |
A |
G |
3: 115,505,710 (GRCm39) |
Y295H |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,364,899 (GRCm39) |
M440V |
probably benign |
Het |
Sel1l2 |
T |
C |
2: 140,107,644 (GRCm39) |
N240S |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,331,003 (GRCm39) |
F1478L |
possibly damaging |
Het |
Skint1 |
T |
C |
4: 111,878,770 (GRCm39) |
L234P |
probably damaging |
Het |
Skint11 |
T |
A |
4: 114,101,919 (GRCm39) |
Y311N |
probably benign |
Het |
Slc6a5 |
A |
T |
7: 49,559,915 (GRCm39) |
|
probably benign |
Het |
Tas2r134 |
T |
C |
2: 51,518,414 (GRCm39) |
S298P |
possibly damaging |
Het |
Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
Tmem184a |
T |
C |
5: 139,799,809 (GRCm39) |
E24G |
probably null |
Het |
Tmem207 |
C |
A |
16: 26,335,577 (GRCm39) |
W53C |
possibly damaging |
Het |
Tns1 |
T |
A |
1: 73,956,076 (GRCm39) |
H549L |
possibly damaging |
Het |
Ttc41 |
G |
T |
10: 86,586,212 (GRCm39) |
E839* |
probably null |
Het |
Ufd1 |
T |
G |
16: 18,634,635 (GRCm39) |
|
probably benign |
Het |
Usp28 |
A |
G |
9: 48,942,177 (GRCm39) |
E713G |
probably benign |
Het |
Utrn |
A |
G |
10: 12,623,762 (GRCm39) |
W159R |
probably damaging |
Het |
Vcl |
C |
T |
14: 21,053,218 (GRCm39) |
A411V |
probably benign |
Het |
Vcl |
T |
A |
14: 21,059,020 (GRCm39) |
C545* |
probably null |
Het |
Vmn1r120 |
A |
T |
7: 20,787,377 (GRCm39) |
S111R |
probably damaging |
Het |
Wwox |
T |
A |
8: 115,199,392 (GRCm39) |
C146S |
probably benign |
Het |
Zbtb2 |
T |
C |
10: 4,324,574 (GRCm39) |
T57A |
possibly damaging |
Het |
Zfp362 |
T |
C |
4: 128,671,010 (GRCm39) |
D336G |
possibly damaging |
Het |
Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
probably damaging |
Het |
Zfp704 |
A |
G |
3: 9,539,658 (GRCm39) |
S231P |
probably damaging |
Het |
Zhx3 |
G |
T |
2: 160,624,038 (GRCm39) |
S43* |
probably null |
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 |
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'- TGTCACTGCTGCACGAATG -3'
(R):5'- CATACTGGAGTCAAGGTCCAAC -3'
Sequencing Primer
(F):5'- ACGAATGGCCCTGTGTG -3'
(R):5'- ACAGCCACTGCCTTGCATG -3'
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Posted On |
2019-09-13 |