Incidental Mutation 'R7679:Tbcd'
| ID |
592658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcd
|
| Ensembl Gene |
ENSMUSG00000039230 |
| Gene Name |
tubulin-specific chaperone d |
| Synonyms |
2310057L06Rik, A030005L14Rik |
| MMRRC Submission |
045707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R7679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
121342817-121507996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121494534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1032
(V1032I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103013]
|
| AlphaFold |
Q8BYA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103013
AA Change: V1032I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: V1032I
| 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: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
C |
14: 78,752,256 (GRCm39) |
Y206D |
|
Het |
| Atm |
A |
T |
9: 53,353,797 (GRCm39) |
I2906N |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,647,678 (GRCm39) |
V422A |
probably benign |
Het |
| Bod1l |
TTCAGGGATC |
TTC |
5: 41,977,986 (GRCm39) |
|
probably null |
Het |
| Ccar2 |
G |
A |
14: 70,376,684 (GRCm39) |
Q887* |
probably null |
Het |
| Cdh13 |
A |
G |
8: 119,963,658 (GRCm39) |
I413V |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,803,374 (GRCm39) |
V1556A |
probably benign |
Het |
| Chchd7 |
A |
T |
4: 3,941,297 (GRCm39) |
N14Y |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,105,110 (GRCm39) |
T824N |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,739,473 (GRCm39) |
Y859N |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,136,392 (GRCm39) |
P131S |
unknown |
Het |
| Erh |
T |
C |
12: 80,684,345 (GRCm39) |
N44S |
probably benign |
Het |
| Esm1 |
T |
A |
13: 113,346,646 (GRCm39) |
D90E |
probably damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,238,089 (GRCm39) |
F213L |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,456,789 (GRCm39) |
T2262A |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,495,058 (GRCm39) |
Q281R |
probably benign |
Het |
| Gdpgp1 |
G |
T |
7: 79,888,324 (GRCm39) |
E118D |
probably benign |
Het |
| Gnas |
A |
T |
2: 174,126,624 (GRCm39) |
Q53L |
probably damaging |
Het |
| Gpr142 |
G |
A |
11: 114,697,533 (GRCm39) |
V360M |
possibly damaging |
Het |
| Grn |
A |
G |
11: 102,323,895 (GRCm39) |
D46G |
probably benign |
Het |
| H2-T10 |
A |
G |
17: 36,430,216 (GRCm39) |
F242L |
not run |
Het |
| Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
| Hoxa9 |
A |
G |
6: 52,201,288 (GRCm39) |
I251T |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,296,247 (GRCm39) |
T866I |
possibly damaging |
Het |
| Itgb1 |
T |
A |
8: 129,446,929 (GRCm39) |
N481K |
probably damaging |
Het |
| Leng9 |
C |
A |
7: 4,152,659 (GRCm39) |
D6Y |
probably benign |
Het |
| Lox |
A |
C |
18: 52,658,178 (GRCm39) |
F332V |
possibly damaging |
Het |
| Lrp1 |
G |
T |
10: 127,424,297 (GRCm39) |
Y796* |
probably null |
Het |
| Lrrc32 |
G |
A |
7: 98,148,894 (GRCm39) |
G558D |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,610,389 (GRCm39) |
E707G |
possibly damaging |
Het |
| Matn4 |
A |
G |
2: 164,231,578 (GRCm39) |
*625R |
probably null |
Het |
| Mcur1 |
T |
A |
13: 43,697,959 (GRCm39) |
K314* |
probably null |
Het |
| Med1 |
G |
C |
11: 98,046,887 (GRCm39) |
P1303R |
unknown |
Het |
| Mgam |
T |
C |
6: 40,619,980 (GRCm39) |
L23P |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,651,205 (GRCm39) |
I936V |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,064,142 (GRCm39) |
S557G |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,727,237 (GRCm39) |
I211T |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,376 (GRCm39) |
V40M |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,970,660 (GRCm39) |
K344E |
probably benign |
Het |
| Pik3r3 |
T |
A |
4: 116,113,392 (GRCm39) |
M45K |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,633 (GRCm39) |
V196A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,649,183 (GRCm39) |
I3719N |
probably damaging |
Het |
| Psg16 |
G |
A |
7: 16,827,685 (GRCm39) |
G123S |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,828,425 (GRCm39) |
D1815G |
probably damaging |
Het |
| Rpe65 |
C |
T |
3: 159,310,030 (GRCm39) |
T101I |
probably damaging |
Het |
| Rpp25l |
A |
C |
4: 41,712,326 (GRCm39) |
C150G |
unknown |
Het |
| Saxo4 |
T |
C |
19: 10,459,618 (GRCm39) |
T30A |
probably damaging |
Het |
| Serpina1b |
A |
T |
12: 103,696,774 (GRCm39) |
W212R |
probably damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,308,395 (GRCm39) |
R466H |
possibly damaging |
Het |
| Sned1 |
T |
C |
1: 93,163,760 (GRCm39) |
L17P |
unknown |
Het |
| Speg |
C |
T |
1: 75,382,959 (GRCm39) |
T1056I |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,219,540 (GRCm39) |
F281L |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,852,088 (GRCm39) |
S270T |
probably benign |
Het |
| Txndc15 |
G |
T |
13: 55,873,621 (GRCm39) |
R327L |
probably damaging |
Het |
| Zfp169 |
G |
C |
13: 48,651,859 (GRCm39) |
L66V |
probably damaging |
Het |
| Zfp442 |
G |
T |
2: 150,252,917 (GRCm39) |
Y45* |
probably null |
Het |
| Zzef1 |
A |
G |
11: 72,784,104 (GRCm39) |
D2003G |
probably benign |
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 |
|
|
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'- ACTGTCATTGTAGTAGCCCTG -3'
(R):5'- TTACCAATCAGTGCCAGGCC -3'
Sequencing Primer
(F):5'- GTCATTGTAGTAGCCCTGAGAACC -3'
(R):5'- AATTCCTGGGGTCCGTAGAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation