Incidental Mutation 'R9494:Tbc1d2b'
| ID |
717110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d2b
|
| Ensembl Gene |
ENSMUSG00000037410 |
| Gene Name |
TBC1 domain family, member 2B |
| Synonyms |
1810061M12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
90084100-90152861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90152563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 68
(Y68N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041767]
[ENSMUST00000128874]
[ENSMUST00000144348]
|
| AlphaFold |
Q3U0J8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041767
AA Change: Y68N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: Y68N
| 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 |
probably damaging
Transcript: ENSMUST00000128874
AA Change: Y68N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140684
Gene: ENSMUSG00000037410
AA Change: Y68N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
35 |
141 |
1.2e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144348
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
T |
C |
1: 59,206,664 (GRCm39) |
D1593G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,081,852 (GRCm39) |
P1254T |
probably benign |
Het |
| Brsk2 |
C |
T |
7: 141,555,955 (GRCm39) |
R716C |
possibly damaging |
Het |
| Bzw2 |
T |
A |
12: 36,184,947 (GRCm39) |
M1L |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,901,249 (GRCm39) |
H277L |
possibly damaging |
Het |
| Col6a5 |
A |
T |
9: 105,822,732 (GRCm39) |
D208E |
unknown |
Het |
| Cul3 |
T |
A |
1: 80,255,169 (GRCm39) |
S544C |
probably damaging |
Het |
| Enpp1 |
C |
A |
10: 24,527,234 (GRCm39) |
R651L |
probably benign |
Het |
| Epha10 |
C |
T |
4: 124,808,649 (GRCm39) |
A766V |
|
Het |
| Epor |
A |
G |
9: 21,870,522 (GRCm39) |
Y453H |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,930,508 (GRCm39) |
K468R |
probably benign |
Het |
| Ffar4 |
C |
T |
19: 38,086,083 (GRCm39) |
A170V |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,583,565 (GRCm39) |
Y410* |
probably null |
Het |
| Gm10203 |
A |
G |
6: 149,031,740 (GRCm39) |
Y15C |
unknown |
Het |
| Kansl1 |
T |
C |
11: 104,247,566 (GRCm39) |
T595A |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,037,338 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
G |
A |
2: 162,917,843 (GRCm39) |
V69I |
possibly damaging |
Het |
| Myo1d |
T |
C |
11: 80,375,093 (GRCm39) |
K994E |
probably benign |
Het |
| Or5p75-ps1 |
C |
A |
7: 108,107,800 (GRCm39) |
T179K |
unknown |
Het |
| Pcdhga10 |
A |
T |
18: 37,882,421 (GRCm39) |
R727S |
probably benign |
Het |
| Pgp |
T |
A |
17: 24,689,809 (GRCm39) |
L109Q |
probably damaging |
Het |
| Piwil2 |
C |
T |
14: 70,660,421 (GRCm39) |
G68D |
probably benign |
Het |
| Pms2 |
T |
A |
5: 143,853,214 (GRCm39) |
I193N |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,942,390 (GRCm39) |
L1236* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,249,731 (GRCm39) |
V489A |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,429,145 (GRCm39) |
S241P |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,830 (GRCm39) |
K477I |
possibly damaging |
Het |
| Stn1 |
C |
T |
19: 47,513,125 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,070,577 (GRCm39) |
V2403A |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,881,747 (GRCm39) |
M361T |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,845,895 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
C |
T |
8: 22,733,268 (GRCm39) |
P105L |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,904,796 (GRCm39) |
L1187P |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,846,843 (GRCm39) |
T1057A |
probably benign |
Het |
| Tubg1 |
T |
C |
11: 101,011,724 (GRCm39) |
I77T |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,952,156 (GRCm39) |
L73P |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,179 (GRCm39) |
R182* |
probably null |
Het |
| Vangl1 |
T |
C |
3: 102,070,665 (GRCm39) |
S424G |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,084 (GRCm39) |
W685R |
probably benign |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,768 (GRCm39) |
S272L |
probably damaging |
Het |
| Zbtb18 |
A |
T |
1: 177,275,648 (GRCm39) |
D327V |
probably benign |
Het |
| Zfp607b |
T |
C |
7: 27,403,092 (GRCm39) |
F516S |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,133,468 (GRCm39) |
I175M |
possibly damaging |
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 |
|
R6766:Tbc1d2b
|
UTSW |
9 |
90,108,262 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
X0066:Tbc1d2b
|
UTSW |
9 |
90,100,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCTGCTGACGGGACAC -3'
(R):5'- TGGATCGCTAAAGAACCCAGG -3'
Sequencing Primer
(F):5'- GGGACACGAGTGGGCAC -3'
(R):5'- TACAAGTCCCAGGCTGCTCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation