Incidental Mutation 'R6766:Tbc1d2b'
| ID |
531936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d2b
|
| Ensembl Gene |
ENSMUSG00000037410 |
| Gene Name |
TBC1 domain family, member 2B |
| Synonyms |
1810061M12Rik |
| MMRRC Submission |
044882-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6766 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
90084100-90152861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90108262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 430
(T430A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041767]
[ENSMUST00000144348]
|
| AlphaFold |
Q3U0J8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041767
AA Change: T430A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: T430A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
35 |
141 |
2.66e-9 |
SMART |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
356 |
N/A |
INTRINSIC |
|
Blast:TBC
|
358 |
601 |
2e-25 |
BLAST |
|
TBC
|
661 |
881 |
3.75e-60 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144348
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
G |
A |
8: 25,362,646 (GRCm39) |
S17L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Ankrd34c |
A |
G |
9: 89,611,381 (GRCm39) |
V320A |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,388,227 (GRCm39) |
L1112I |
possibly damaging |
Het |
| Arap2 |
A |
C |
5: 62,834,443 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,401,582 (GRCm39) |
I1429N |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,099,861 (GRCm39) |
N290D |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,542 (GRCm39) |
W5R |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,827 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
C |
16: 3,935,364 (GRCm39) |
T842A |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,236 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,358,522 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,333,564 (GRCm39) |
I4800V |
probably damaging |
Het |
| Efcab7 |
CAAGTAAAGTAA |
CAAGTAA |
4: 99,735,161 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
T |
10: 25,348,990 (GRCm39) |
Q382* |
probably null |
Het |
| Fam83e |
A |
G |
7: 45,376,070 (GRCm39) |
D261G |
probably damaging |
Het |
| Ifnk |
T |
G |
4: 35,152,134 (GRCm39) |
S21A |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,903,204 (GRCm39) |
H1157R |
probably benign |
Het |
| Ighv1-67 |
T |
C |
12: 115,567,654 (GRCm39) |
K67R |
possibly damaging |
Het |
| Inpp4a |
C |
A |
1: 37,411,422 (GRCm39) |
A97D |
probably damaging |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Irgm1 |
T |
C |
11: 48,756,928 (GRCm39) |
I294M |
possibly damaging |
Het |
| Isoc2b |
C |
T |
7: 4,854,061 (GRCm39) |
V104M |
probably damaging |
Het |
| Kif2c |
A |
C |
4: 117,024,280 (GRCm39) |
S311R |
probably benign |
Het |
| Morn3 |
G |
A |
5: 123,179,270 (GRCm39) |
A60V |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,274,534 (GRCm39) |
N89D |
probably damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,293 (GRCm39) |
N141I |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,832,876 (GRCm39) |
V42A |
probably benign |
Het |
| Or5d44 |
T |
A |
2: 88,142,095 (GRCm39) |
Q15L |
noncoding transcript |
Het |
| Or8b48 |
A |
C |
9: 38,493,069 (GRCm39) |
R165S |
probably damaging |
Het |
| Pan2 |
C |
A |
10: 128,150,381 (GRCm39) |
N708K |
possibly damaging |
Het |
| Parp1 |
T |
A |
1: 180,425,927 (GRCm39) |
V886E |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,127,753 (GRCm39) |
A745E |
probably benign |
Het |
| Pcyox1 |
C |
T |
6: 86,371,390 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
A |
T |
13: 13,176,713 (GRCm39) |
|
probably null |
Het |
| Samd1 |
T |
C |
8: 84,726,361 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,773 (GRCm39) |
D475E |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,535 (GRCm39) |
V239A |
possibly damaging |
Het |
| Smo |
T |
A |
6: 29,736,044 (GRCm39) |
L12Q |
unknown |
Homo |
| Srpk1 |
C |
T |
17: 28,821,727 (GRCm39) |
R229Q |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,216,362 (GRCm39) |
F191L |
probably damaging |
Het |
| Syngr2 |
T |
C |
11: 117,704,261 (GRCm39) |
V182A |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,174,139 (GRCm39) |
A889V |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,484 (GRCm39) |
Y82F |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,841,220 (GRCm39) |
Y272* |
probably null |
Het |
| Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
| Vsig8 |
T |
A |
1: 172,388,143 (GRCm39) |
M37K |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,616,339 (GRCm39) |
D1218Y |
unknown |
Het |
| Wdr11 |
T |
G |
7: 129,226,036 (GRCm39) |
M727R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Yod1 |
T |
A |
1: 130,647,008 (GRCm39) |
L295* |
probably null |
Het |
| Zfp113 |
G |
T |
5: 138,143,608 (GRCm39) |
S214* |
probably null |
Het |
| Zfp438 |
T |
A |
18: 5,213,780 (GRCm39) |
M393L |
probably benign |
Het |
| Zfp946 |
G |
A |
17: 22,674,752 (GRCm39) |
C502Y |
probably benign |
Het |
|
| Other mutations in Tbc1d2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Tbc1d2b
|
APN |
9 |
90,108,262 (GRCm39) |
missense |
probably benign |
|
|
IGL00791:Tbc1d2b
|
APN |
9 |
90,109,481 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01457:Tbc1d2b
|
APN |
9 |
90,087,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01535:Tbc1d2b
|
APN |
9 |
90,097,526 (GRCm39) |
splice site |
probably benign |
|
|
IGL02089:Tbc1d2b
|
APN |
9 |
90,104,412 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02409:Tbc1d2b
|
APN |
9 |
90,104,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02799:Tbc1d2b
|
APN |
9 |
90,105,487 (GRCm39) |
splice site |
probably benign |
|
|
IGL03198:Tbc1d2b
|
APN |
9 |
90,104,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Leone
|
UTSW |
9 |
90,089,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ocelot
|
UTSW |
9 |
90,089,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
panthera
|
UTSW |
9 |
90,108,301 (GRCm39) |
missense |
probably benign |
|
|
pardo
|
UTSW |
9 |
90,101,197 (GRCm39) |
missense |
probably benign |
0.13 |
|
pardus
|
UTSW |
9 |
90,101,063 (GRCm39) |
nonsense |
probably null |
|
|
roar
|
UTSW |
9 |
90,100,975 (GRCm39) |
nonsense |
probably null |
|
|
R0062:Tbc1d2b
|
UTSW |
9 |
90,104,355 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Tbc1d2b
|
UTSW |
9 |
90,104,355 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Tbc1d2b
|
UTSW |
9 |
90,104,558 (GRCm39) |
splice site |
probably benign |
|
|
R0682:Tbc1d2b
|
UTSW |
9 |
90,131,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1074:Tbc1d2b
|
UTSW |
9 |
90,104,393 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1075:Tbc1d2b
|
UTSW |
9 |
90,104,393 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1140:Tbc1d2b
|
UTSW |
9 |
90,108,429 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1892:Tbc1d2b
|
UTSW |
9 |
90,100,996 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4064:Tbc1d2b
|
UTSW |
9 |
90,100,975 (GRCm39) |
nonsense |
probably null |
|
|
R4541:Tbc1d2b
|
UTSW |
9 |
90,087,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4590:Tbc1d2b
|
UTSW |
9 |
90,152,553 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4651:Tbc1d2b
|
UTSW |
9 |
90,089,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Tbc1d2b
|
UTSW |
9 |
90,089,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Tbc1d2b
|
UTSW |
9 |
90,100,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5086:Tbc1d2b
|
UTSW |
9 |
90,109,510 (GRCm39) |
missense |
probably benign |
|
|
R5131:Tbc1d2b
|
UTSW |
9 |
90,091,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5205:Tbc1d2b
|
UTSW |
9 |
90,089,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Tbc1d2b
|
UTSW |
9 |
90,109,496 (GRCm39) |
missense |
probably benign |
|
|
R5509:Tbc1d2b
|
UTSW |
9 |
90,101,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Tbc1d2b
|
UTSW |
9 |
90,109,559 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5729:Tbc1d2b
|
UTSW |
9 |
90,089,925 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5735:Tbc1d2b
|
UTSW |
9 |
90,104,462 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5847:Tbc1d2b
|
UTSW |
9 |
90,091,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Tbc1d2b
|
UTSW |
9 |
90,101,197 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6595:Tbc1d2b
|
UTSW |
9 |
90,108,145 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7563:Tbc1d2b
|
UTSW |
9 |
90,108,301 (GRCm39) |
missense |
probably benign |
|
|
R7563:Tbc1d2b
|
UTSW |
9 |
90,101,063 (GRCm39) |
nonsense |
probably null |
|
|
R8126:Tbc1d2b
|
UTSW |
9 |
90,104,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8162:Tbc1d2b
|
UTSW |
9 |
90,089,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Tbc1d2b
|
UTSW |
9 |
90,108,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Tbc1d2b
|
UTSW |
9 |
90,152,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9210:Tbc1d2b
|
UTSW |
9 |
90,087,183 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9212:Tbc1d2b
|
UTSW |
9 |
90,087,183 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9381:Tbc1d2b
|
UTSW |
9 |
90,101,139 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9494:Tbc1d2b
|
UTSW |
9 |
90,152,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Tbc1d2b
|
UTSW |
9 |
90,100,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATGTCTATCCAGAAAGCC -3'
(R):5'- ACAGTCCGGTCATCCCAATATG -3'
Sequencing Primer
(F):5'- TAGCCTGTCCAGCTCCAG -3'
(R):5'- CATCCCAATATGACAAGTATTTCACG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation