Incidental Mutation 'R5303:Tbc1d5'
| ID |
404383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d5
|
| Ensembl Gene |
ENSMUSG00000023923 |
| Gene Name |
TBC1 domain family, member 5 |
| Synonyms |
1600014N05Rik |
| MMRRC Submission |
042886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51043228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 753
(D753E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
| AlphaFold |
Q80XQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024717
AA Change: D731E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: D731E
| 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 benign
Transcript: ENSMUST00000224528
AA Change: D753E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224977
|
| Meta Mutation Damage Score |
0.0643 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| 4921504E06Rik |
A |
G |
2: 19,521,110 (GRCm39) |
Y256H |
possibly damaging |
Het |
| Abcc12 |
C |
A |
8: 87,236,415 (GRCm39) |
R1133L |
probably benign |
Het |
| Acss3 |
T |
A |
10: 106,920,712 (GRCm39) |
T133S |
possibly damaging |
Het |
| Adra1d |
G |
A |
2: 131,388,169 (GRCm39) |
P462L |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,739,453 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,290,349 (GRCm39) |
R1748Q |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,677,488 (GRCm39) |
|
probably benign |
Het |
| C3ar1 |
A |
T |
6: 122,826,794 (GRCm39) |
S474R |
probably damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,427 (GRCm39) |
F189L |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,744,707 (GRCm39) |
I344V |
probably benign |
Het |
| Chrna1 |
T |
C |
2: 73,396,618 (GRCm39) |
M426V |
probably benign |
Het |
| Cinp |
G |
A |
12: 110,843,295 (GRCm39) |
T139M |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Disp2 |
T |
C |
2: 118,641,329 (GRCm39) |
|
probably benign |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,537 (GRCm39) |
R173H |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,739,703 (GRCm39) |
P38L |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,853,873 (GRCm39) |
S480P |
probably benign |
Het |
| Epb41l3 |
G |
C |
17: 69,564,444 (GRCm39) |
E390Q |
probably damaging |
Het |
| Fermt1 |
T |
C |
2: 132,753,259 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
T |
A |
13: 31,810,463 (GRCm39) |
F134Y |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,324,636 (GRCm39) |
C95S |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria1 |
A |
G |
11: 57,133,851 (GRCm39) |
T577A |
probably benign |
Het |
| Hal |
A |
G |
10: 93,352,227 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
C |
A |
15: 97,695,899 (GRCm39) |
E670D |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,115,558 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,335,663 (GRCm39) |
Y2258H |
probably benign |
Het |
| Mical3 |
G |
T |
6: 120,936,941 (GRCm39) |
T1195K |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,092,843 (GRCm39) |
S46P |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,077,105 (GRCm39) |
I444F |
probably damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,781,478 (GRCm39) |
C644S |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,368,631 (GRCm39) |
V553M |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,884 (GRCm39) |
I213T |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,345 (GRCm39) |
I242F |
possibly damaging |
Het |
| Or51a43 |
T |
C |
7: 103,718,239 (GRCm39) |
|
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
| Postn |
A |
G |
3: 54,285,018 (GRCm39) |
T669A |
probably damaging |
Het |
| Ppp5c |
G |
T |
7: 16,739,209 (GRCm39) |
Q472K |
probably benign |
Het |
| Qsox1 |
T |
C |
1: 155,655,039 (GRCm39) |
H708R |
probably benign |
Het |
| Rhbdl2 |
A |
G |
4: 123,704,014 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,767,907 (GRCm39) |
E2884K |
probably damaging |
Het |
| Saysd1 |
T |
C |
14: 20,133,026 (GRCm39) |
T44A |
probably benign |
Het |
| Septin14 |
T |
A |
5: 129,766,712 (GRCm39) |
M290L |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc38a8 |
C |
A |
8: 120,212,780 (GRCm39) |
V294L |
possibly damaging |
Het |
| Spdye4b |
C |
T |
5: 143,188,158 (GRCm39) |
T217I |
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,694,827 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,370,464 (GRCm39) |
T232A |
probably benign |
Het |
| Tmed1 |
G |
T |
9: 21,421,343 (GRCm39) |
Q44K |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,622,606 (GRCm39) |
S2T |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,468,260 (GRCm39) |
D172G |
probably damaging |
Het |
| Vmn1r235 |
C |
A |
17: 21,482,268 (GRCm39) |
Q198K |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,100,849 (GRCm39) |
H256R |
probably damaging |
Het |
| Zfat |
A |
T |
15: 67,982,335 (GRCm39) |
H1059Q |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,593,842 (GRCm39) |
I77M |
probably benign |
Het |
| Zfp850 |
C |
T |
7: 27,707,838 (GRCm39) |
A2T |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,830 (GRCm39) |
N188K |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,041,629 (GRCm39) |
|
probably null |
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 |
|
R4352:Tbc1d5
|
UTSW |
17 |
51,089,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TGAAGCCAGACTCCTTGCTG -3'
(R):5'- GGCATCTTTCCAAACTGGGTG -3'
Sequencing Primer
(F):5'- TGCTGTCATCATCGGGGC -3'
(R):5'- CTTTCCAAACTGGGTGCAGGAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation