Incidental Mutation 'R8126:Tbc1d2b'
| ID |
631768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d2b
|
| Ensembl Gene |
ENSMUSG00000037410 |
| Gene Name |
TBC1 domain family, member 2B |
| Synonyms |
1810061M12Rik |
| MMRRC Submission |
067555-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
90084100-90152861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90104369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 591
(H591R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041767]
|
| AlphaFold |
Q3U0J8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041767
AA Change: H591R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: H591R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.3%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Aplp1 |
T |
A |
7: 30,141,164 (GRCm39) |
D299V |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,968,987 (GRCm39) |
I841M |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,192,790 (GRCm39) |
E1348G |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,359,881 (GRCm39) |
T1948A |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,558,393 (GRCm39) |
Y431H |
probably benign |
Het |
| Cfap74 |
C |
A |
4: 155,511,831 (GRCm39) |
D446E |
|
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,007 (GRCm39) |
T1632A |
unknown |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Cspg4b |
T |
A |
13: 113,504,697 (GRCm39) |
I1942N |
|
Het |
| Cstl1 |
A |
G |
2: 148,596,591 (GRCm39) |
E98G |
probably benign |
Het |
| Ddx49 |
A |
T |
8: 70,748,246 (GRCm39) |
I303N |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gm14295 |
A |
G |
2: 176,502,658 (GRCm39) |
D716G |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,475,010 (GRCm39) |
H556Q |
probably benign |
Het |
| Hsp90b1 |
T |
C |
10: 86,530,246 (GRCm39) |
I538V |
probably damaging |
Het |
| Ighv1-49 |
C |
T |
12: 115,019,230 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,942,063 (GRCm39) |
N725S |
probably damaging |
Het |
| Mfsd4b2 |
A |
G |
10: 39,797,984 (GRCm39) |
S124P |
probably benign |
Het |
| Ncoa1 |
A |
T |
12: 4,340,951 (GRCm39) |
L827Q |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,183,268 (GRCm39) |
N59D |
unknown |
Het |
| Nfkbid |
T |
A |
7: 30,123,799 (GRCm39) |
S120T |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,575,514 (GRCm39) |
Y341H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,463,634 (GRCm39) |
V139A |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,114 (GRCm39) |
N42K |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,047,506 (GRCm39) |
D721G |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,608,952 (GRCm39) |
D348E |
probably damaging |
Het |
| Pramel21 |
T |
A |
4: 143,343,635 (GRCm39) |
C312S |
possibly damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,372 (GRCm39) |
I171M |
probably damaging |
Het |
| Snrpa |
G |
T |
7: 26,892,373 (GRCm39) |
F62L |
possibly damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| Tnfsf8 |
T |
G |
4: 63,752,423 (GRCm39) |
D214A |
possibly damaging |
Het |
| Trdmt1 |
C |
T |
2: 13,524,816 (GRCm39) |
R213H |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,151,430 (GRCm39) |
L877F |
probably damaging |
Het |
| Vmn1r22 |
C |
A |
6: 57,877,669 (GRCm39) |
V103F |
possibly damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,880,712 (GRCm39) |
S18P |
probably benign |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,042,814 (GRCm39) |
Y74F |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,067,951 (GRCm39) |
F1429S |
possibly damaging |
Het |
| Zdhhc20 |
C |
A |
14: 58,084,402 (GRCm39) |
V238F |
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 |
|
|
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 |
|
|
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'- AGGCTGATTCCAGTTCTAGC -3'
(R):5'- TCTCTGGGTGGAGGTAACAC -3'
Sequencing Primer
(F):5'- AGGCTGATTCCAGTTCTAGCACATG -3'
(R):5'- TCCAGTACTCTAGCCTGGAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation