Incidental Mutation 'R6852:Tbcd'
| ID |
535047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcd
|
| Ensembl Gene |
ENSMUSG00000039230 |
| Gene Name |
tubulin-specific chaperone d |
| Synonyms |
2310057L06Rik, A030005L14Rik |
| MMRRC Submission |
045023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R6852 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121500206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1111
(K1111E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
| AlphaFold |
Q8BYA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103013
AA Change: K1111E
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: K1111E
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,770,930 (GRCm39) |
Q40* |
probably null |
Het |
| 1700034E13Rik |
T |
C |
18: 52,796,705 (GRCm39) |
V81A |
probably damaging |
Het |
| A630089N07Rik |
A |
G |
16: 97,866,855 (GRCm39) |
I369T |
probably benign |
Het |
| Aatk |
T |
A |
11: 119,901,294 (GRCm39) |
Q977L |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,928,844 (GRCm39) |
Q144H |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,401,753 (GRCm39) |
F416L |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,096,516 (GRCm39) |
E425G |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,393,730 (GRCm39) |
S1737P |
possibly damaging |
Het |
| Bsph1 |
T |
A |
7: 13,204,255 (GRCm39) |
|
probably null |
Het |
| Cabyr |
C |
T |
18: 12,887,154 (GRCm39) |
P262S |
probably benign |
Het |
| Cdc14a |
G |
A |
3: 116,122,325 (GRCm39) |
P214L |
possibly damaging |
Het |
| Cep128 |
C |
A |
12: 91,333,116 (GRCm39) |
|
probably null |
Het |
| Cfh |
T |
A |
1: 140,075,487 (GRCm39) |
R250S |
probably damaging |
Het |
| Ddx39a |
T |
C |
8: 84,449,646 (GRCm39) |
I417T |
probably benign |
Het |
| Dgka |
T |
A |
10: 128,558,408 (GRCm39) |
K548M |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Elapor1 |
T |
C |
3: 108,389,654 (GRCm39) |
E203G |
probably damaging |
Het |
| Epg5 |
C |
T |
18: 78,056,106 (GRCm39) |
T1760I |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,488,635 (GRCm39) |
V3472A |
possibly damaging |
Het |
| Fbxo48 |
T |
A |
11: 16,903,402 (GRCm39) |
N9K |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,560 (GRCm39) |
I1084N |
probably damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,466,727 (GRCm39) |
H833L |
probably damaging |
Het |
| Foxn1 |
G |
T |
11: 78,251,786 (GRCm39) |
Q482K |
probably benign |
Het |
| Fstl5 |
A |
G |
3: 76,615,162 (GRCm39) |
D741G |
probably damaging |
Het |
| Gmip |
C |
T |
8: 70,270,641 (GRCm39) |
Q55* |
probably null |
Het |
| H2-T5 |
T |
C |
17: 36,478,965 (GRCm39) |
N95D |
possibly damaging |
Het |
| Hapln2 |
G |
A |
3: 87,929,958 (GRCm39) |
T306M |
possibly damaging |
Het |
| Kat6a |
T |
A |
8: 23,428,676 (GRCm39) |
S1344T |
probably benign |
Het |
| Kctd1 |
C |
T |
18: 15,119,401 (GRCm39) |
D705N |
possibly damaging |
Het |
| Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
| Micall2 |
G |
T |
5: 139,701,548 (GRCm39) |
A482D |
possibly damaging |
Het |
| Mindy3 |
T |
A |
2: 12,424,063 (GRCm39) |
M1L |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,136,867 (GRCm39) |
E352G |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,370,644 (GRCm39) |
V3219I |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,143,794 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
A |
G |
11: 62,234,071 (GRCm39) |
I377T |
probably damaging |
Het |
| Oog4 |
C |
A |
4: 143,165,679 (GRCm39) |
C156F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,876,948 (GRCm39) |
I41F |
probably benign |
Het |
| Pcyt1a |
T |
C |
16: 32,288,938 (GRCm39) |
S260P |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,843,711 (GRCm39) |
F1749L |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,525 (GRCm39) |
D647G |
probably benign |
Het |
| Raver2 |
T |
C |
4: 100,990,787 (GRCm39) |
S387P |
probably benign |
Het |
| Relch |
T |
C |
1: 105,681,320 (GRCm39) |
L1184P |
probably damaging |
Het |
| Rgs19 |
A |
G |
2: 181,330,941 (GRCm39) |
S231P |
possibly damaging |
Het |
| Rpl8 |
G |
T |
15: 76,790,149 (GRCm39) |
R198L |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,416,737 (GRCm39) |
S77T |
possibly damaging |
Het |
| Samd14 |
G |
A |
11: 94,912,280 (GRCm39) |
G219D |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,331,431 (GRCm39) |
V195M |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,221,113 (GRCm39) |
V453I |
possibly damaging |
Het |
| Slc46a3 |
A |
T |
5: 147,822,970 (GRCm39) |
C291S |
probably damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,630,332 (GRCm39) |
T129A |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,935,694 (GRCm39) |
R1041W |
possibly damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,793,622 (GRCm39) |
D118G |
probably damaging |
Het |
| Tas2r117 |
T |
A |
6: 132,779,892 (GRCm39) |
V10D |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 155,911,566 (GRCm39) |
L139Q |
probably damaging |
Het |
| Trbv23 |
T |
C |
6: 41,193,181 (GRCm39) |
V23A |
probably damaging |
Het |
| Ttll3 |
AAGTA |
AAGTATAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
GGCAAAG |
GGCAAAGCAAAG |
6: 113,376,116 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vmn1r42 |
T |
G |
6: 89,821,769 (GRCm39) |
T267P |
possibly damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,340,441 (GRCm39) |
V11F |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,361 (GRCm39) |
M192V |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,603,811 (GRCm39) |
V663A |
probably damaging |
Het |
| Zdhhc1 |
C |
T |
8: 106,203,704 (GRCm39) |
G156S |
possibly damaging |
Het |
| Zfp318 |
AGAAG |
AGAAGAGGAAG |
17: 46,723,464 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
GAAGAA |
GAAGAAAAAGAA |
17: 46,723,459 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
AAGAAG |
AAGAAGTAGAAG |
17: 46,723,460 (GRCm39) |
|
probably benign |
Het |
| Zfp560 |
A |
G |
9: 20,259,339 (GRCm39) |
C508R |
probably damaging |
Het |
| Zfp654 |
G |
A |
16: 64,606,961 (GRCm39) |
L414F |
probably damaging |
Het |
| Zfp872 |
A |
T |
9: 22,111,355 (GRCm39) |
Y278F |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,483,515 (GRCm39) |
S385G |
probably 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 |
|
|
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'- TCACCATGTATAAGTGAGCACATG -3'
(R):5'- TGGAACCCATCTCACCAGTG -3'
Sequencing Primer
(F):5'- TCACATGGGAGCGCACTAGTG -3'
(R):5'- TCACCAGTGCTTCCTTCAAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation