Incidental Mutation 'R0682:Tbc1d2b'
| ID |
61021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d2b
|
| Ensembl Gene |
ENSMUSG00000037410 |
| Gene Name |
TBC1 domain family, member 2B |
| Synonyms |
1810061M12Rik |
| MMRRC Submission |
038867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0682 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
90084100-90152861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90131915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 148
(M148T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041767]
[ENSMUST00000128874]
[ENSMUST00000144348]
|
| AlphaFold |
Q3U0J8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041767
AA Change: M148T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: M148T
| 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 benign
Transcript: ENSMUST00000128874
AA Change: M148T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140684
Gene: ENSMUSG00000037410
AA Change: M148T
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
35 |
141 |
1.2e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144646
|
| SMART Domains |
Protein: ENSMUSP00000116348
Gene: ENSMUSG00000037410
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
27 |
47 |
3e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
| Abcd3 |
A |
C |
3: 121,563,216 (GRCm39) |
I471S |
possibly damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
| Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
| Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,222 (GRCm39) |
Y418C |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
| Ifit2 |
G |
A |
19: 34,551,012 (GRCm39) |
R184H |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,428,620 (GRCm39) |
N113K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
| Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
| Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
| Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
| Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
| Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,645,665 (GRCm39) |
S470P |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
| Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
| Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
| Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,710,930 (GRCm39) |
Y60C |
probably 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 |
|
|
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 |
|
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'- GCACATTCAGATGCAAGCCTTCCG -3'
(R):5'- agccaagGTGCTCTCTTCTTAATGC -3'
Sequencing Primer
(F):5'- TGCATAGGTGAGAGCACTCC -3'
(R):5'- AATGCTGCTCTCTTCCTGTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation