Incidental Mutation 'R9370:Tbc1d22a'
ID |
709283 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d22a
|
Ensembl Gene |
ENSMUSG00000051864 |
Gene Name |
TBC1 domain family, member 22a |
Synonyms |
D15Ertd781e |
MMRRC Submission |
068964-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9370 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
86098660-86382704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86123441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 194
(T194I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063414]
[ENSMUST00000229242]
|
AlphaFold |
Q8R5A6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063414
AA Change: T194I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000065721 Gene: ENSMUSG00000051864 AA Change: T194I
Domain | Start | End | E-Value | Type |
Blast:TBC
|
25 |
94 |
5e-34 |
BLAST |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
TBC
|
218 |
471 |
2.35e-43 |
SMART |
Blast:TBC
|
476 |
515 |
1e-9 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229242
AA Change: T158I
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1d1 |
T |
A |
6: 37,544,099 (GRCm39) |
*326R |
probably null |
Het |
Cntn5 |
T |
A |
9: 9,833,520 (GRCm39) |
I344F |
probably benign |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Eln |
C |
T |
5: 134,741,476 (GRCm39) |
V563I |
unknown |
Het |
Epb41l5 |
T |
C |
1: 119,561,312 (GRCm39) |
Y83C |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,673,511 (GRCm39) |
D91G |
possibly damaging |
Het |
Fscn3 |
T |
C |
6: 28,434,535 (GRCm39) |
V370A |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,131,940 (GRCm39) |
N1550S |
probably benign |
Het |
Gck |
T |
C |
11: 5,852,244 (GRCm39) |
D365G |
possibly damaging |
Het |
Hhatl |
C |
T |
9: 121,617,836 (GRCm39) |
G251E |
possibly damaging |
Het |
Hspa12a |
A |
G |
19: 58,813,708 (GRCm39) |
F139S |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,018 (GRCm39) |
D497G |
probably damaging |
Het |
Ino80 |
A |
G |
2: 119,232,848 (GRCm39) |
S1157P |
probably damaging |
Het |
Jmjd6 |
A |
G |
11: 116,729,952 (GRCm39) |
I315T |
probably benign |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lyst |
C |
T |
13: 13,935,333 (GRCm39) |
H3601Y |
probably damaging |
Het |
Mars2 |
T |
C |
1: 55,276,624 (GRCm39) |
S76P |
probably benign |
Het |
Mtmr10 |
A |
G |
7: 63,969,249 (GRCm39) |
E337G |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,760,246 (GRCm39) |
D254G |
possibly damaging |
Het |
Nell1 |
A |
T |
7: 49,770,292 (GRCm39) |
E117V |
probably damaging |
Het |
Pcdhgb7 |
T |
C |
18: 37,884,937 (GRCm39) |
S36P |
possibly damaging |
Het |
Rps6kc1 |
A |
C |
1: 190,531,222 (GRCm39) |
L927V |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,441,080 (GRCm39) |
I1042N |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,481,259 (GRCm39) |
N41D |
possibly damaging |
Het |
Slc5a11 |
A |
G |
7: 122,834,855 (GRCm39) |
T5A |
probably benign |
Het |
Tmem234 |
T |
A |
4: 129,500,922 (GRCm39) |
V93D |
probably damaging |
Het |
Trim43b |
T |
C |
9: 88,971,559 (GRCm39) |
E199G |
probably benign |
Het |
Ttc24 |
A |
T |
3: 87,980,136 (GRCm39) |
V148E |
probably benign |
Het |
Utp15 |
A |
G |
13: 98,387,119 (GRCm39) |
F434L |
probably damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,104,424 (GRCm39) |
Y349C |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,546,844 (GRCm39) |
V865E |
probably damaging |
Het |
Zfhx3 |
C |
T |
8: 109,521,340 (GRCm39) |
R821C |
probably damaging |
Het |
Zfp90 |
A |
G |
8: 107,145,791 (GRCm39) |
D41G |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,744,148 (GRCm39) |
C835S |
probably damaging |
Het |
|
Other mutations in Tbc1d22a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01022:Tbc1d22a
|
APN |
15 |
86,185,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01483:Tbc1d22a
|
APN |
15 |
86,275,404 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02137:Tbc1d22a
|
APN |
15 |
86,183,870 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02543:Tbc1d22a
|
APN |
15 |
86,123,372 (GRCm39) |
missense |
probably benign |
0.30 |
R0138:Tbc1d22a
|
UTSW |
15 |
86,183,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Tbc1d22a
|
UTSW |
15 |
86,176,335 (GRCm39) |
missense |
probably benign |
0.01 |
R1294:Tbc1d22a
|
UTSW |
15 |
86,381,027 (GRCm39) |
missense |
probably damaging |
0.98 |
R1565:Tbc1d22a
|
UTSW |
15 |
86,119,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1586:Tbc1d22a
|
UTSW |
15 |
86,235,852 (GRCm39) |
splice site |
probably null |
|
R1703:Tbc1d22a
|
UTSW |
15 |
86,123,416 (GRCm39) |
missense |
probably benign |
0.09 |
R1822:Tbc1d22a
|
UTSW |
15 |
86,119,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1823:Tbc1d22a
|
UTSW |
15 |
86,119,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1824:Tbc1d22a
|
UTSW |
15 |
86,119,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1925:Tbc1d22a
|
UTSW |
15 |
86,123,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R2014:Tbc1d22a
|
UTSW |
15 |
86,183,885 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Tbc1d22a
|
UTSW |
15 |
86,183,885 (GRCm39) |
missense |
probably damaging |
0.99 |
R2035:Tbc1d22a
|
UTSW |
15 |
86,275,266 (GRCm39) |
splice site |
probably null |
|
R4380:Tbc1d22a
|
UTSW |
15 |
86,235,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R4616:Tbc1d22a
|
UTSW |
15 |
86,119,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R4690:Tbc1d22a
|
UTSW |
15 |
86,196,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Tbc1d22a
|
UTSW |
15 |
86,235,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R4883:Tbc1d22a
|
UTSW |
15 |
86,381,117 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4920:Tbc1d22a
|
UTSW |
15 |
86,195,949 (GRCm39) |
missense |
probably benign |
0.20 |
R4979:Tbc1d22a
|
UTSW |
15 |
86,275,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R5913:Tbc1d22a
|
UTSW |
15 |
86,235,929 (GRCm39) |
missense |
probably damaging |
0.98 |
R5916:Tbc1d22a
|
UTSW |
15 |
86,098,809 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6360:Tbc1d22a
|
UTSW |
15 |
86,098,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R6483:Tbc1d22a
|
UTSW |
15 |
86,185,768 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7138:Tbc1d22a
|
UTSW |
15 |
86,123,356 (GRCm39) |
missense |
probably benign |
0.07 |
R7294:Tbc1d22a
|
UTSW |
15 |
86,196,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7645:Tbc1d22a
|
UTSW |
15 |
86,119,742 (GRCm39) |
missense |
probably benign |
0.01 |
R7704:Tbc1d22a
|
UTSW |
15 |
86,250,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R9204:Tbc1d22a
|
UTSW |
15 |
86,098,803 (GRCm39) |
missense |
probably benign |
0.15 |
R9459:Tbc1d22a
|
UTSW |
15 |
86,120,021 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9792:Tbc1d22a
|
UTSW |
15 |
86,119,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R9793:Tbc1d22a
|
UTSW |
15 |
86,119,839 (GRCm39) |
missense |
probably damaging |
0.99 |
RF013:Tbc1d22a
|
UTSW |
15 |
86,183,975 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCACAAAGGCCCATGGTAAC -3'
(R):5'- AGTCCAACTACCAGCATTTTAGG -3'
Sequencing Primer
(F):5'- TGAGCACCTGGGCACATG -3'
(R):5'- ACCAGCATTTTAGGGACTCG -3'
|
Posted On |
2022-04-18 |