Incidental Mutation 'R8162:Tbc1d2b'
| ID |
633582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d2b
|
| Ensembl Gene |
ENSMUSG00000037410 |
| Gene Name |
TBC1 domain family, member 2B |
| Synonyms |
1810061M12Rik |
| MMRRC Submission |
067588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
90084100-90152861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90089937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 864
(R864H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041767]
[ENSMUST00000167122]
|
| AlphaFold |
Q3U0J8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041767
AA Change: R864H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: R864H
| 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: ENSMUST00000167122
|
| SMART Domains |
Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
33 |
174 |
1.4e-28 |
PFAM |
|
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
224 |
411 |
7.2e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
224 |
425 |
3.6e-9 |
PFAM |
|
Pfam:Reprolysin
|
226 |
437 |
2.9e-30 |
PFAM |
|
Pfam:Reprolysin_2
|
244 |
427 |
2.2e-12 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
383 |
3.7e-13 |
PFAM |
|
Blast:ACR
|
442 |
513 |
5e-15 |
BLAST |
|
TSP1
|
526 |
578 |
4.9e-13 |
SMART |
|
Pfam:ADAM_spacer1
|
683 |
794 |
1.1e-36 |
PFAM |
|
TSP1
|
807 |
863 |
1.45e-6 |
SMART |
|
TSP1
|
866 |
908 |
2.41e-1 |
SMART |
|
TSP1
|
929 |
978 |
1.45e-6 |
SMART |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1211 |
1233 |
N/A |
INTRINSIC |
|
TSP1
|
1385 |
1435 |
2.4e-2 |
SMART |
|
TSP1
|
1436 |
1493 |
1.8e-2 |
SMART |
|
TSP1
|
1495 |
1542 |
4.82e-2 |
SMART |
|
TSP1
|
1543 |
1600 |
1.39e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.9312 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7b |
T |
A |
15: 77,307,430 (GRCm39) |
Q355L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,633,945 (GRCm39) |
Q383H |
probably benign |
Het |
| Ash1l |
T |
G |
3: 88,977,553 (GRCm39) |
M2661R |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,577,313 (GRCm39) |
|
probably null |
Het |
| Ccdc40 |
G |
T |
11: 119,150,870 (GRCm39) |
|
probably null |
Het |
| Cd27 |
T |
A |
6: 125,210,188 (GRCm39) |
|
probably null |
Het |
| Ces3b |
T |
C |
8: 105,817,385 (GRCm39) |
L371S |
possibly damaging |
Het |
| Clec4a2 |
T |
A |
6: 123,117,711 (GRCm39) |
Y210N |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,394,681 (GRCm39) |
H553L |
|
Het |
| Cpne8 |
T |
C |
15: 90,503,881 (GRCm39) |
I95V |
probably benign |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,525 (GRCm39) |
T96A |
probably benign |
Het |
| Dand5 |
C |
A |
8: 85,543,147 (GRCm39) |
G110C |
probably damaging |
Het |
| Erich3 |
C |
T |
3: 154,470,210 (GRCm39) |
T1554M |
unknown |
Het |
| Evi5l |
T |
C |
8: 4,241,300 (GRCm39) |
S278P |
probably damaging |
Het |
| Farp2 |
C |
A |
1: 93,548,325 (GRCm39) |
H1003Q |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gm13741 |
A |
C |
2: 87,486,446 (GRCm39) |
M273R |
possibly damaging |
Het |
| Gm28363 |
T |
A |
1: 117,626,641 (GRCm39) |
D26E |
unknown |
Het |
| Gm8674 |
A |
T |
13: 50,054,407 (GRCm39) |
D700E |
noncoding transcript |
Het |
| Gtf3c4 |
G |
A |
2: 28,724,593 (GRCm39) |
Q380* |
probably null |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il1a |
A |
T |
2: 129,148,477 (GRCm39) |
S78T |
possibly damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,582,508 (GRCm39) |
|
probably null |
Het |
| Met |
A |
G |
6: 17,547,061 (GRCm39) |
D898G |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,221 (GRCm39) |
Y127N |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,071 (GRCm39) |
S8P |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,197 (GRCm39) |
T148S |
unknown |
Het |
| Nutm1 |
G |
A |
2: 112,078,817 (GRCm39) |
L1033F |
probably benign |
Het |
| Ocstamp |
G |
T |
2: 165,239,787 (GRCm39) |
A133D |
probably damaging |
Het |
| Or1ab2 |
T |
G |
8: 72,864,253 (GRCm39) |
V281G |
noncoding transcript |
Het |
| Or5p63 |
T |
C |
7: 107,810,995 (GRCm39) |
H247R |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,930,249 (GRCm39) |
D196V |
probably benign |
Het |
| Or9s18 |
G |
A |
13: 65,300,734 (GRCm39) |
R232Q |
probably damaging |
Het |
| Phf12 |
C |
A |
11: 77,915,651 (GRCm39) |
P46Q |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,138,749 (GRCm39) |
T236A |
probably damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,884,798 (GRCm39) |
V47A |
probably benign |
Het |
| Rapgef1 |
A |
T |
2: 29,626,011 (GRCm39) |
N1071Y |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf26rt |
C |
A |
6: 76,473,558 (GRCm39) |
A353S |
probably benign |
Het |
| Tango6 |
C |
T |
8: 107,409,882 (GRCm39) |
P33L |
possibly damaging |
Het |
| Tasor2 |
G |
T |
13: 3,649,691 (GRCm39) |
T36N |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,304,432 (GRCm39) |
|
probably null |
Het |
| Trav10n |
A |
T |
14: 53,359,929 (GRCm39) |
I69L |
probably benign |
Het |
| Tsks |
A |
G |
7: 44,603,296 (GRCm39) |
Q366R |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,853,106 (GRCm39) |
S618* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,622,799 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
A |
8: 79,787,206 (GRCm39) |
L124* |
probably null |
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 |
|
|
R8126:Tbc1d2b
|
UTSW |
9 |
90,104,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CTCTAGGAAAGAGCACCACG -3'
(R):5'- ACAAGTCAGTCAGTCACCTTAC -3'
Sequencing Primer
(F):5'- GGCACCCTGGACAACCC -3'
(R):5'- TTACCTCCTAGGAACACGGCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation