Incidental Mutation 'R7563:Tbc1d2b'
ID |
585267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d2b
|
Ensembl Gene |
ENSMUSG00000037410 |
Gene Name |
TBC1 domain family, member 2B |
Synonyms |
1810061M12Rik |
MMRRC Submission |
045655-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7563 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
90084100-90152861 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 90101063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 642
(Y642*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041767]
|
AlphaFold |
Q3U0J8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041767
AA Change: Y642*
|
SMART Domains |
Protein: ENSMUSP00000045413 Gene: ENSMUSG00000037410 AA Change: Y642*
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 |
|
Meta Mutation Damage Score |
0.9705 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
G |
4: 144,184,464 (GRCm39) |
I98T |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,988,529 (GRCm39) |
I3271T |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,086,304 (GRCm39) |
V70I |
probably benign |
Het |
Ap1g2 |
A |
G |
14: 55,337,206 (GRCm39) |
S710P |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Cacna1e |
T |
C |
1: 154,347,162 (GRCm39) |
K1064E |
probably benign |
Het |
Capn11 |
T |
A |
17: 45,944,891 (GRCm39) |
I459F |
probably damaging |
Het |
Ccnc |
A |
G |
4: 21,732,220 (GRCm39) |
I48V |
probably damaging |
Het |
Ces1d |
T |
A |
8: 93,904,667 (GRCm39) |
I358F |
probably benign |
Het |
Clgn |
A |
T |
8: 84,147,185 (GRCm39) |
N379I |
probably damaging |
Het |
Cym |
T |
C |
3: 107,121,548 (GRCm39) |
Y248C |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,666,100 (GRCm39) |
D352G |
possibly damaging |
Het |
Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
Fam219a |
A |
C |
4: 41,569,208 (GRCm39) |
V10G |
probably benign |
Het |
Fbxl5 |
C |
T |
5: 43,978,891 (GRCm39) |
V20I |
probably benign |
Het |
Fbxl9 |
A |
G |
8: 106,042,388 (GRCm39) |
C147R |
probably benign |
Het |
Fscb |
T |
C |
12: 64,520,059 (GRCm39) |
E469G |
possibly damaging |
Het |
Glt8d2 |
A |
T |
10: 82,496,659 (GRCm39) |
|
probably null |
Het |
Grep1 |
A |
T |
17: 23,936,302 (GRCm39) |
F8L |
probably benign |
Het |
Helt |
T |
C |
8: 46,746,630 (GRCm39) |
|
probably benign |
Het |
Igkv8-27 |
G |
T |
6: 70,148,887 (GRCm39) |
T89K |
probably benign |
Het |
Ipo5 |
T |
A |
14: 121,183,567 (GRCm39) |
H1048Q |
probably benign |
Het |
Kalrn |
T |
C |
16: 34,212,464 (GRCm39) |
D28G |
probably damaging |
Het |
Kcnh4 |
G |
A |
11: 100,632,680 (GRCm39) |
P936S |
probably benign |
Het |
Klrd1 |
A |
G |
6: 129,570,701 (GRCm39) |
I37M |
possibly damaging |
Het |
Kmt2e |
T |
C |
5: 23,705,271 (GRCm39) |
V1267A |
probably damaging |
Het |
Marchf1 |
A |
T |
8: 66,920,965 (GRCm39) |
Q214L |
probably damaging |
Het |
Mlip |
G |
T |
9: 77,020,279 (GRCm39) |
H52N |
probably damaging |
Het |
Oas1e |
T |
C |
5: 120,927,021 (GRCm39) |
R229G |
probably benign |
Het |
Ogfr |
T |
A |
2: 180,234,300 (GRCm39) |
|
probably null |
Het |
Or4g16 |
T |
C |
2: 111,137,134 (GRCm39) |
F195L |
probably benign |
Het |
Or5m10 |
T |
A |
2: 85,717,482 (GRCm39) |
Y113N |
probably damaging |
Het |
Pde4d |
T |
C |
13: 110,087,541 (GRCm39) |
I636T |
probably benign |
Het |
Pex5l |
C |
T |
3: 33,008,625 (GRCm39) |
V426I |
probably damaging |
Het |
Pmfbp1 |
A |
G |
8: 110,252,006 (GRCm39) |
K384E |
possibly damaging |
Het |
Pramel22 |
A |
T |
4: 143,380,675 (GRCm39) |
Y449* |
probably null |
Het |
Prl6a1 |
T |
G |
13: 27,498,221 (GRCm39) |
|
probably null |
Het |
Prss23 |
A |
T |
7: 89,159,038 (GRCm39) |
W344R |
probably damaging |
Het |
Ptar1 |
T |
A |
19: 23,697,680 (GRCm39) |
D397E |
probably benign |
Het |
Qrsl1 |
G |
A |
10: 43,752,513 (GRCm39) |
R437C |
probably damaging |
Het |
Rab6a |
G |
T |
7: 100,257,404 (GRCm39) |
|
probably benign |
Het |
Samd14 |
C |
A |
11: 94,912,239 (GRCm39) |
S205R |
probably benign |
Het |
Sel1l3 |
T |
C |
5: 53,343,326 (GRCm39) |
Y322C |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,940,480 (GRCm39) |
L669I |
probably benign |
Het |
Ssc4d |
A |
G |
5: 135,991,887 (GRCm39) |
L419P |
probably damaging |
Het |
Top2a |
T |
C |
11: 98,907,005 (GRCm39) |
D212G |
probably damaging |
Het |
Trim39 |
A |
T |
17: 36,571,807 (GRCm39) |
V317E |
probably damaging |
Het |
Uncx |
G |
A |
5: 139,530,261 (GRCm39) |
R113H |
probably damaging |
Het |
Usp4 |
A |
G |
9: 108,256,543 (GRCm39) |
S655G |
probably benign |
Het |
Vmn2r114 |
C |
T |
17: 23,510,000 (GRCm39) |
V827I |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,491,200 (GRCm39) |
N349I |
probably benign |
Het |
Vmn2r3 |
A |
G |
3: 64,182,770 (GRCm39) |
W310R |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,245 (GRCm39) |
W829R |
probably damaging |
Het |
Zfp574 |
C |
A |
7: 24,780,777 (GRCm39) |
H600N |
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 |
|
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'- GCAGCAAGGTCTGGAAGTAGTC -3'
(R):5'- GCTTCATGGTCTGAATAGGTCC -3'
Sequencing Primer
(F):5'- GAAGTAGTCTGGCTCCATGC -3'
(R):5'- TTTGCCAAGACCATGCCG -3'
|
Posted On |
2019-10-17 |