Incidental Mutation 'R4352:Tbc1d5'
ID |
327376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d5
|
Ensembl Gene |
ENSMUSG00000023923 |
Gene Name |
TBC1 domain family, member 5 |
Synonyms |
1600014N05Rik |
MMRRC Submission |
041668-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4352 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51089429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 584
(S584P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
AlphaFold |
Q80XQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024717
AA Change: S562P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024717 Gene: ENSMUSG00000023923 AA Change: S562P
Domain | Start | End | E-Value | Type |
TBC
|
78 |
384 |
5.56e-86 |
SMART |
low complexity region
|
475 |
492 |
N/A |
INTRINSIC |
SCOP:d1lsha3
|
511 |
546 |
1e-3 |
SMART |
low complexity region
|
556 |
568 |
N/A |
INTRINSIC |
low complexity region
|
783 |
802 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224528
AA Change: S584P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224977
|
Meta Mutation Damage Score |
0.0799 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (79/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
Ankrd54 |
A |
T |
15: 78,939,662 (GRCm39) |
F176I |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,576,239 (GRCm39) |
E94V |
possibly damaging |
Het |
Arid1b |
A |
T |
17: 5,147,859 (GRCm39) |
Q587L |
possibly damaging |
Het |
Atg2a |
G |
A |
19: 6,307,487 (GRCm39) |
V1474M |
probably benign |
Het |
Bcl2a1d |
A |
G |
9: 88,613,552 (GRCm39) |
V74A |
probably damaging |
Het |
Bmper |
A |
G |
9: 23,395,248 (GRCm39) |
I660V |
probably benign |
Het |
Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,105,365 (GRCm39) |
M1K |
probably null |
Het |
Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
Ddx47 |
C |
T |
6: 134,995,018 (GRCm39) |
T161I |
probably benign |
Het |
Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
Efcab3 |
T |
A |
11: 104,630,140 (GRCm39) |
L957Q |
probably null |
Het |
Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
Eml1 |
A |
T |
12: 108,501,096 (GRCm39) |
|
probably benign |
Het |
Espnl |
A |
T |
1: 91,262,443 (GRCm39) |
D296V |
probably damaging |
Het |
Fam161a |
T |
G |
11: 22,970,798 (GRCm39) |
S109R |
possibly damaging |
Het |
Fat3 |
T |
G |
9: 16,158,074 (GRCm39) |
T1179P |
possibly damaging |
Het |
Gfra1 |
A |
T |
19: 58,255,456 (GRCm39) |
N330K |
probably benign |
Het |
Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
Gm20775 |
A |
T |
Y: 10,641,648 (GRCm39) |
|
noncoding transcript |
Het |
Gm5885 |
T |
A |
6: 133,508,152 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
H2-Q1 |
A |
G |
17: 35,539,919 (GRCm39) |
N63D |
possibly damaging |
Het |
Itgb2 |
A |
T |
10: 77,392,001 (GRCm39) |
N358I |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,080,588 (GRCm39) |
T2247A |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,361,720 (GRCm39) |
K1036I |
probably damaging |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Lrch1 |
G |
T |
14: 75,056,018 (GRCm39) |
S278R |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,262,526 (GRCm39) |
|
probably null |
Het |
Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
Mpzl1 |
G |
A |
1: 165,433,376 (GRCm39) |
Q36* |
probably null |
Het |
Msantd5 |
A |
G |
11: 51,125,646 (GRCm39) |
N190D |
possibly damaging |
Het |
Npr2 |
T |
C |
4: 43,646,592 (GRCm39) |
S647P |
probably damaging |
Het |
Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,705,396 (GRCm39) |
C644S |
probably damaging |
Het |
Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
Paqr3 |
T |
C |
5: 97,247,455 (GRCm39) |
T218A |
probably benign |
Het |
Pcdh7 |
C |
T |
5: 57,879,361 (GRCm39) |
S972L |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
Ralb |
A |
G |
1: 119,411,282 (GRCm39) |
M19T |
probably benign |
Het |
Rcan1 |
A |
G |
16: 92,190,384 (GRCm39) |
I185T |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
Rock1 |
T |
A |
18: 10,079,237 (GRCm39) |
Q1077L |
probably damaging |
Het |
Sesn3 |
C |
T |
9: 14,231,669 (GRCm39) |
A200V |
probably damaging |
Het |
Shh |
T |
C |
5: 28,663,187 (GRCm39) |
E327G |
probably benign |
Het |
Shmt2 |
G |
A |
10: 127,354,686 (GRCm39) |
A333V |
probably damaging |
Het |
Slc15a2 |
T |
A |
16: 36,592,390 (GRCm39) |
I256F |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
Taf10 |
A |
G |
7: 105,392,614 (GRCm39) |
|
probably benign |
Het |
Tas2r139 |
T |
A |
6: 42,118,689 (GRCm39) |
W274R |
probably damaging |
Het |
Tbc1d20 |
T |
A |
2: 152,150,114 (GRCm39) |
|
probably benign |
Het |
Tcstv1a |
T |
C |
13: 120,355,407 (GRCm39) |
D75G |
probably damaging |
Het |
Tex10 |
T |
G |
4: 48,452,039 (GRCm39) |
T696P |
possibly damaging |
Het |
Tgfbr1 |
T |
C |
4: 47,402,863 (GRCm39) |
F206S |
probably damaging |
Het |
Tmem241 |
A |
T |
18: 12,246,496 (GRCm39) |
H51Q |
probably benign |
Het |
Trim5 |
A |
T |
7: 103,926,015 (GRCm39) |
V182D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
Ubr5 |
A |
G |
15: 38,041,817 (GRCm39) |
V204A |
probably benign |
Het |
Ugp2 |
C |
T |
11: 21,279,026 (GRCm39) |
V387I |
probably damaging |
Het |
Unc45b |
G |
A |
11: 82,804,035 (GRCm39) |
D71N |
probably damaging |
Het |
Usp34 |
A |
T |
11: 23,270,727 (GRCm39) |
Y37F |
possibly damaging |
Het |
Zfp943 |
A |
T |
17: 22,212,104 (GRCm39) |
I397F |
probably damaging |
Het |
|
Other mutations in Tbc1d5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01287:Tbc1d5
|
APN |
17 |
51,120,826 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL01370:Tbc1d5
|
APN |
17 |
51,273,755 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01625:Tbc1d5
|
APN |
17 |
51,224,601 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01935:Tbc1d5
|
APN |
17 |
51,270,793 (GRCm39) |
splice site |
probably benign |
|
IGL02229:Tbc1d5
|
APN |
17 |
51,159,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02811:Tbc1d5
|
APN |
17 |
51,107,149 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03192:Tbc1d5
|
APN |
17 |
51,291,709 (GRCm39) |
splice site |
probably benign |
|
FR4976:Tbc1d5
|
UTSW |
17 |
51,106,971 (GRCm39) |
missense |
probably benign |
0.01 |
FR4976:Tbc1d5
|
UTSW |
17 |
51,106,959 (GRCm39) |
missense |
probably benign |
|
IGL02796:Tbc1d5
|
UTSW |
17 |
51,273,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Tbc1d5
|
UTSW |
17 |
51,291,715 (GRCm39) |
splice site |
probably benign |
|
R0326:Tbc1d5
|
UTSW |
17 |
51,273,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R0417:Tbc1d5
|
UTSW |
17 |
51,063,733 (GRCm39) |
missense |
probably benign |
0.18 |
R0481:Tbc1d5
|
UTSW |
17 |
51,226,079 (GRCm39) |
missense |
probably damaging |
0.98 |
R1143:Tbc1d5
|
UTSW |
17 |
51,049,087 (GRCm39) |
nonsense |
probably null |
|
R1533:Tbc1d5
|
UTSW |
17 |
51,227,603 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1543:Tbc1d5
|
UTSW |
17 |
51,242,560 (GRCm39) |
missense |
probably benign |
0.32 |
R2888:Tbc1d5
|
UTSW |
17 |
51,242,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R3153:Tbc1d5
|
UTSW |
17 |
51,275,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R3430:Tbc1d5
|
UTSW |
17 |
51,107,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R3898:Tbc1d5
|
UTSW |
17 |
51,270,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R4116:Tbc1d5
|
UTSW |
17 |
51,227,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R4456:Tbc1d5
|
UTSW |
17 |
51,089,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R4648:Tbc1d5
|
UTSW |
17 |
51,043,251 (GRCm39) |
missense |
probably benign |
|
R4711:Tbc1d5
|
UTSW |
17 |
51,242,537 (GRCm39) |
missense |
probably damaging |
0.98 |
R4754:Tbc1d5
|
UTSW |
17 |
51,107,193 (GRCm39) |
missense |
probably benign |
0.03 |
R5303:Tbc1d5
|
UTSW |
17 |
51,043,228 (GRCm39) |
missense |
probably benign |
0.00 |
R5360:Tbc1d5
|
UTSW |
17 |
51,291,660 (GRCm39) |
missense |
probably benign |
0.26 |
R5443:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R5444:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R5611:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R5658:Tbc1d5
|
UTSW |
17 |
51,120,869 (GRCm39) |
missense |
probably benign |
0.18 |
R5701:Tbc1d5
|
UTSW |
17 |
51,106,983 (GRCm39) |
small deletion |
probably benign |
|
R5921:Tbc1d5
|
UTSW |
17 |
51,270,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R6280:Tbc1d5
|
UTSW |
17 |
51,089,338 (GRCm39) |
missense |
probably benign |
0.01 |
R6628:Tbc1d5
|
UTSW |
17 |
51,043,236 (GRCm39) |
missense |
probably benign |
|
R6705:Tbc1d5
|
UTSW |
17 |
51,332,203 (GRCm39) |
start gained |
probably benign |
|
R6990:Tbc1d5
|
UTSW |
17 |
51,275,260 (GRCm39) |
missense |
probably benign |
0.19 |
R7184:Tbc1d5
|
UTSW |
17 |
51,107,110 (GRCm39) |
missense |
probably benign |
0.00 |
R7443:Tbc1d5
|
UTSW |
17 |
51,273,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R7484:Tbc1d5
|
UTSW |
17 |
51,224,573 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7696:Tbc1d5
|
UTSW |
17 |
51,181,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R7787:Tbc1d5
|
UTSW |
17 |
51,181,711 (GRCm39) |
nonsense |
probably null |
|
R7827:Tbc1d5
|
UTSW |
17 |
51,089,291 (GRCm39) |
missense |
probably damaging |
0.99 |
R7841:Tbc1d5
|
UTSW |
17 |
51,106,950 (GRCm39) |
small deletion |
probably benign |
|
R7861:Tbc1d5
|
UTSW |
17 |
51,063,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R7931:Tbc1d5
|
UTSW |
17 |
51,106,892 (GRCm39) |
splice site |
probably benign |
|
R8108:Tbc1d5
|
UTSW |
17 |
51,049,114 (GRCm39) |
missense |
probably benign |
0.01 |
R8434:Tbc1d5
|
UTSW |
17 |
51,089,455 (GRCm39) |
splice site |
probably benign |
|
R8683:Tbc1d5
|
UTSW |
17 |
51,291,631 (GRCm39) |
critical splice donor site |
probably null |
|
R8792:Tbc1d5
|
UTSW |
17 |
51,106,962 (GRCm39) |
small insertion |
probably benign |
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,969 (GRCm39) |
small insertion |
probably benign |
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,963 (GRCm39) |
small insertion |
probably benign |
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,962 (GRCm39) |
small insertion |
probably benign |
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,978 (GRCm39) |
small insertion |
probably benign |
|
R8848:Tbc1d5
|
UTSW |
17 |
51,226,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R9027:Tbc1d5
|
UTSW |
17 |
51,063,692 (GRCm39) |
missense |
probably damaging |
0.97 |
R9176:Tbc1d5
|
UTSW |
17 |
51,089,363 (GRCm39) |
missense |
probably benign |
|
R9751:Tbc1d5
|
UTSW |
17 |
51,181,680 (GRCm39) |
missense |
possibly damaging |
0.65 |
Z1088:Tbc1d5
|
UTSW |
17 |
51,270,724 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tbc1d5
|
UTSW |
17 |
51,273,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGAGACTGAAAGCAAGCTG -3'
(R):5'- TTTAAAACATGCCTGGACTATGCAG -3'
Sequencing Primer
(F):5'- TGAAAGCAAGCTGTCCTTAGAC -3'
(R):5'- GCCTGGACTATGCAGGATACATTAC -3'
|
Posted On |
2015-07-07 |