Incidental Mutation 'IGL01836:Tbc1d22b'
| ID |
154959 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d22b
|
| Ensembl Gene |
ENSMUSG00000042203 |
| Gene Name |
TBC1 domain family, member 22B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
IGL01836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29768765-29825868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29818932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 429
(T429A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048677]
|
| AlphaFold |
Q80VE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048677
AA Change: T429A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046877
Gene: ENSMUSG00000042203
AA Change: T429A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
23 |
93 |
6e-12 |
BLAST |
|
TBC
|
207 |
460 |
1.25e-56 |
SMART |
|
Blast:TBC
|
464 |
504 |
4e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183866
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
A |
G |
3: 138,019,097 (GRCm39) |
|
probably benign |
Het |
| Atp1a1 |
C |
T |
3: 101,498,730 (GRCm39) |
G188R |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,522,311 (GRCm38) |
Y618H |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,621,700 (GRCm39) |
S451P |
probably benign |
Het |
| Dpysl4 |
G |
A |
7: 138,676,089 (GRCm39) |
V294I |
possibly damaging |
Het |
| Ehmt1 |
T |
A |
2: 24,753,232 (GRCm39) |
|
probably null |
Het |
| Eps8 |
C |
T |
6: 137,460,539 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
T |
A |
14: 51,602,853 (GRCm39) |
I63K |
probably damaging |
Het |
| Gsdme |
T |
A |
6: 50,199,769 (GRCm39) |
D270V |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,674,372 (GRCm39) |
T353S |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,704,331 (GRCm39) |
H403R |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,090,675 (GRCm39) |
T280A |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,837 (GRCm39) |
Q138* |
probably null |
Het |
| Pkdrej |
A |
G |
15: 85,705,159 (GRCm39) |
L259P |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,488,551 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,593,356 (GRCm39) |
S415P |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,472,239 (GRCm39) |
F968I |
probably damaging |
Het |
| Rreb1 |
T |
C |
13: 38,115,433 (GRCm39) |
S931P |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,018,073 (GRCm39) |
I618V |
probably damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,645,714 (GRCm39) |
F386I |
probably damaging |
Het |
| Sppl2b |
C |
T |
10: 80,697,220 (GRCm39) |
T30I |
probably benign |
Het |
| Srf |
T |
C |
17: 46,860,108 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
A |
T |
15: 82,739,356 (GRCm39) |
D698E |
probably damaging |
Het |
| Tmem106c |
C |
A |
15: 97,867,567 (GRCm39) |
S250R |
probably benign |
Het |
| Tmprss3 |
A |
G |
17: 31,410,018 (GRCm39) |
S199P |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,492,060 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,480,525 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tbc1d22b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01481:Tbc1d22b
|
APN |
17 |
29,787,572 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1524:Tbc1d22b
|
UTSW |
17 |
29,789,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1681:Tbc1d22b
|
UTSW |
17 |
29,794,151 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1757:Tbc1d22b
|
UTSW |
17 |
29,790,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Tbc1d22b
|
UTSW |
17 |
29,818,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5656:Tbc1d22b
|
UTSW |
17 |
29,813,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5832:Tbc1d22b
|
UTSW |
17 |
29,789,621 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6892:Tbc1d22b
|
UTSW |
17 |
29,814,864 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7095:Tbc1d22b
|
UTSW |
17 |
29,818,843 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7780:Tbc1d22b
|
UTSW |
17 |
29,792,040 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8121:Tbc1d22b
|
UTSW |
17 |
29,791,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Tbc1d22b
|
UTSW |
17 |
29,818,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8964:Tbc1d22b
|
UTSW |
17 |
29,819,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Tbc1d22b
|
UTSW |
17 |
29,813,747 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2014-02-04 |
Incidental Mutation