Incidental Mutation 'R5166:Tbcd'
ID |
397317 |
Institutional Source |
Beutler Lab
|
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 # |
R5166 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121500216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 1114
(L1114H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
AlphaFold |
Q8BYA0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103013
AA Change: L1114H
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099302 Gene: ENSMUSG00000039230 AA Change: L1114H
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 |
noncoding transcript
Transcript: ENSMUST00000139414
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151666
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155666
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
T |
C |
5: 121,738,083 (GRCm39) |
T435A |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,184,438 (GRCm39) |
I38N |
probably damaging |
Het |
Aff1 |
A |
G |
5: 103,902,523 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
A |
G |
2: 153,243,041 (GRCm39) |
E1197G |
probably damaging |
Het |
Brinp3 |
T |
A |
1: 146,777,105 (GRCm39) |
N517K |
probably damaging |
Het |
Carmil1 |
C |
T |
13: 24,338,966 (GRCm39) |
|
probably null |
Het |
Ccdc185 |
G |
A |
1: 182,576,564 (GRCm39) |
Q42* |
probably null |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdh10 |
A |
G |
15: 19,013,446 (GRCm39) |
E682G |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,738,330 (GRCm39) |
R456L |
probably damaging |
Het |
Egf |
C |
T |
3: 129,529,489 (GRCm39) |
R307H |
probably benign |
Het |
Flt4 |
T |
C |
11: 49,524,084 (GRCm39) |
|
probably null |
Het |
Fstl5 |
A |
C |
3: 76,536,267 (GRCm39) |
K26Q |
possibly damaging |
Het |
Gk5 |
G |
T |
9: 96,056,821 (GRCm39) |
A413S |
probably damaging |
Het |
Glcci1 |
T |
A |
6: 8,537,854 (GRCm39) |
S157R |
probably benign |
Het |
Gzmc |
G |
A |
14: 56,471,433 (GRCm39) |
A36V |
probably damaging |
Het |
Hexb |
T |
C |
13: 97,318,512 (GRCm39) |
N283S |
probably benign |
Het |
Hydin |
A |
G |
8: 111,249,774 (GRCm39) |
E2239G |
possibly damaging |
Het |
Igkv10-95 |
A |
T |
6: 68,657,544 (GRCm39) |
Y20F |
probably benign |
Het |
Il17re |
A |
G |
6: 113,439,923 (GRCm39) |
T181A |
probably benign |
Het |
Kcnh6 |
G |
A |
11: 105,911,145 (GRCm39) |
A514T |
possibly damaging |
Het |
Kcnk10 |
G |
A |
12: 98,401,254 (GRCm39) |
R460W |
probably damaging |
Het |
Krtap5-2 |
A |
T |
7: 141,728,721 (GRCm39) |
S320T |
unknown |
Het |
Larp1b |
G |
T |
3: 40,918,487 (GRCm39) |
E24* |
probably null |
Het |
Mettl22 |
A |
G |
16: 8,296,115 (GRCm39) |
T135A |
probably benign |
Het |
Mlh1 |
A |
G |
9: 111,070,581 (GRCm39) |
V378A |
probably benign |
Het |
Mmrn1 |
A |
T |
6: 60,953,474 (GRCm39) |
H585L |
probably benign |
Het |
Myh14 |
A |
G |
7: 44,278,279 (GRCm39) |
F1024L |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,926,874 (GRCm39) |
H776Q |
probably damaging |
Het |
Nod2 |
A |
G |
8: 89,390,875 (GRCm39) |
D372G |
possibly damaging |
Het |
Nptn |
C |
T |
9: 58,526,263 (GRCm39) |
R137* |
probably null |
Het |
Or9k2 |
T |
C |
10: 129,998,430 (GRCm39) |
Y255C |
possibly damaging |
Het |
Pm20d2 |
C |
T |
4: 33,181,803 (GRCm39) |
V267I |
probably benign |
Het |
Rassf10 |
A |
G |
7: 112,553,627 (GRCm39) |
D76G |
probably benign |
Het |
Rbbp5 |
A |
G |
1: 132,418,303 (GRCm39) |
T41A |
possibly damaging |
Het |
Rttn |
T |
C |
18: 89,031,218 (GRCm39) |
V643A |
possibly damaging |
Het |
Sbno2 |
C |
A |
10: 79,902,762 (GRCm39) |
E421* |
probably null |
Het |
Slc17a3 |
T |
C |
13: 24,026,525 (GRCm39) |
|
probably null |
Het |
Slc1a6 |
T |
A |
10: 78,632,103 (GRCm39) |
|
probably null |
Het |
Slco2b1 |
A |
G |
7: 99,338,220 (GRCm39) |
S106P |
possibly damaging |
Het |
Spef1 |
T |
C |
2: 131,016,511 (GRCm39) |
N28S |
probably damaging |
Het |
Srebf2 |
C |
A |
15: 82,069,603 (GRCm39) |
T675N |
probably damaging |
Het |
Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
Tex15 |
T |
C |
8: 34,066,420 (GRCm39) |
V1950A |
probably benign |
Het |
Tnfsf9 |
T |
A |
17: 57,413,263 (GRCm39) |
F148Y |
possibly damaging |
Het |
Traf6 |
A |
G |
2: 101,520,402 (GRCm39) |
D150G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,693,717 (GRCm39) |
Y262H |
possibly damaging |
Het |
Unc93b1 |
A |
G |
19: 3,994,027 (GRCm39) |
Y386C |
probably damaging |
Het |
Vmn1r226 |
A |
T |
17: 20,908,125 (GRCm39) |
E119V |
probably benign |
Het |
Wrn |
A |
T |
8: 33,842,100 (GRCm39) |
|
probably null |
Het |
Zfp398 |
A |
G |
6: 47,842,838 (GRCm39) |
I165V |
probably benign |
Het |
Zfp850 |
A |
T |
7: 27,689,781 (GRCm39) |
C142* |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCATAGGTCACATGGGAGC -3'
(R):5'- GTGTTCCTTTCATACAAACACCAAC -3'
Sequencing Primer
(F):5'- TCACATGGGAGCGCACTAGTG -3'
(R):5'- CCAGTTGACTGCCCACAC -3'
|
Posted On |
2016-07-06 |