Incidental Mutation 'R7728:Tbc1d9'
| ID |
595634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
045784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R7728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83985979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 828
(E828V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: E595V
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: E595V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
TBC
|
279 |
492 |
8.68e-56 |
SMART |
|
Blast:TBC
|
500 |
587 |
5e-35 |
BLAST |
|
PDB:1BJF|B
|
579 |
703 |
3e-7 |
PDB |
|
low complexity region
|
917 |
937 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093393
AA Change: E828V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: E828V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
55 |
N/A |
INTRINSIC |
|
GRAM
|
146 |
213 |
1.2e-25 |
SMART |
|
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
|
GRAM
|
293 |
361 |
1.37e-20 |
SMART |
|
low complexity region
|
425 |
441 |
N/A |
INTRINSIC |
|
TBC
|
512 |
725 |
8.68e-56 |
SMART |
|
Blast:TBC
|
733 |
820 |
6e-35 |
BLAST |
|
PDB:1BJF|B
|
812 |
936 |
4e-7 |
PDB |
|
low complexity region
|
1150 |
1170 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,163,822 (GRCm39) |
P851S |
probably damaging |
Het |
| 2210408I21Rik |
T |
A |
13: 77,464,596 (GRCm39) |
L931Q |
possibly damaging |
Het |
| Abcg3 |
T |
G |
5: 105,083,944 (GRCm39) |
I609L |
probably benign |
Het |
| Acly |
A |
T |
11: 100,407,623 (GRCm39) |
F242L |
probably damaging |
Het |
| Acly |
C |
T |
11: 100,410,513 (GRCm39) |
G155D |
probably benign |
Het |
| Acsl5 |
T |
A |
19: 55,276,285 (GRCm39) |
L370* |
probably null |
Het |
| Arhgef17 |
G |
A |
7: 100,579,275 (GRCm39) |
P558S |
probably benign |
Het |
| Bhlha9 |
T |
A |
11: 76,563,915 (GRCm39) |
S181T |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,929,100 (GRCm39) |
T2331A |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc7b |
A |
T |
8: 129,799,171 (GRCm39) |
R83W |
unknown |
Het |
| Churc1 |
T |
A |
12: 76,820,052 (GRCm39) |
N20K |
probably benign |
Het |
| Clec9a |
T |
C |
6: 129,392,198 (GRCm39) |
S63P |
possibly damaging |
Het |
| Cndp2 |
T |
A |
18: 84,690,202 (GRCm39) |
M247L |
probably benign |
Het |
| Cpvl |
C |
T |
6: 53,902,275 (GRCm39) |
S329N |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,005,316 (GRCm39) |
V559A |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,281,285 (GRCm39) |
W747R |
probably damaging |
Het |
| Dhx40 |
A |
T |
11: 86,662,759 (GRCm39) |
D644E |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,961 (GRCm39) |
N898Y |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,538,051 (GRCm39) |
H666Y |
probably damaging |
Het |
| Dnajc2 |
C |
T |
5: 21,975,538 (GRCm39) |
D222N |
possibly damaging |
Het |
| Epha5 |
A |
T |
5: 84,215,267 (GRCm39) |
M826K |
possibly damaging |
Het |
| Fam13a |
T |
C |
6: 58,931,284 (GRCm39) |
D432G |
possibly damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,368,398 (GRCm39) |
L276P |
probably damaging |
Het |
| Gars1 |
G |
T |
6: 55,027,371 (GRCm39) |
W155L |
probably damaging |
Het |
| Gm12258 |
C |
A |
11: 58,750,518 (GRCm39) |
H564Q |
unknown |
Het |
| Gm3127 |
A |
G |
14: 15,425,832 (GRCm39) |
D79G |
possibly damaging |
Het |
| H2-Q10 |
T |
A |
17: 35,781,735 (GRCm39) |
I119N |
probably damaging |
Het |
| Harbi1 |
A |
G |
2: 91,542,626 (GRCm39) |
D29G |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,953,307 (GRCm39) |
M155K |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,317,088 (GRCm39) |
M781R |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,190,907 (GRCm39) |
K101E |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,360,478 (GRCm39) |
I299T |
possibly damaging |
Het |
| Krt34 |
A |
G |
11: 99,930,811 (GRCm39) |
|
probably null |
Het |
| Krt81 |
A |
G |
15: 101,358,087 (GRCm39) |
Y389H |
probably damaging |
Het |
| Lrrc36 |
A |
T |
8: 106,176,130 (GRCm39) |
E168V |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,912,463 (GRCm39) |
V1699A |
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,754,429 (GRCm39) |
S380C |
probably benign |
Het |
| Mlkl |
A |
G |
8: 112,060,251 (GRCm39) |
L45P |
probably damaging |
Het |
| Mmp13 |
T |
A |
9: 7,274,004 (GRCm39) |
D159E |
probably benign |
Het |
| Nanp |
A |
G |
2: 150,872,835 (GRCm39) |
V31A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,283,983 (GRCm39) |
S846P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,073,311 (GRCm39) |
R5982C |
probably damaging |
Het |
| Nebl |
G |
T |
2: 17,375,325 (GRCm39) |
F93L |
|
Het |
| Or11h6 |
G |
A |
14: 50,879,849 (GRCm39) |
G31E |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,556,530 (GRCm39) |
N620I |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,824,260 (GRCm39) |
Y417C |
probably damaging |
Het |
| Pwp2 |
T |
C |
10: 78,014,395 (GRCm39) |
T402A |
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,324,423 (GRCm39) |
|
probably null |
Het |
| Rexo4 |
G |
A |
2: 26,854,242 (GRCm39) |
A30V |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,616,623 (GRCm39) |
M292K |
possibly damaging |
Het |
| Shroom3 |
C |
A |
5: 92,831,566 (GRCm39) |
P14Q |
possibly damaging |
Het |
| Slc16a10 |
T |
A |
10: 39,916,754 (GRCm39) |
I383F |
probably damaging |
Het |
| Slco1a8 |
C |
A |
6: 141,933,436 (GRCm39) |
E470* |
probably null |
Het |
| Slk |
C |
A |
19: 47,609,255 (GRCm39) |
P736Q |
probably damaging |
Het |
| St6galnac2 |
T |
A |
11: 116,570,811 (GRCm39) |
H259L |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,213,721 (GRCm39) |
S317A |
possibly damaging |
Het |
| Syvn1 |
A |
G |
19: 6,101,235 (GRCm39) |
T429A |
unknown |
Het |
| Tmtc2 |
A |
C |
10: 105,107,358 (GRCm39) |
|
probably null |
Het |
| Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
| Trp53bp1 |
A |
C |
2: 121,038,380 (GRCm39) |
L1436R |
probably damaging |
Het |
| Ttll5 |
C |
T |
12: 86,003,406 (GRCm39) |
R1095W |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,634,203 (GRCm39) |
F831S |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,773,117 (GRCm39) |
Q501H |
probably damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,230,812 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,678,201 (GRCm39) |
M3084V |
probably benign |
Het |
| Zfp81 |
T |
C |
17: 33,555,791 (GRCm39) |
N12S |
possibly damaging |
Het |
|
| Other mutations in Tbc1d9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Tbc1d9
|
APN |
8 |
83,960,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01443:Tbc1d9
|
APN |
8 |
83,966,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01536:Tbc1d9
|
APN |
8 |
83,987,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01811:Tbc1d9
|
APN |
8 |
83,960,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02068:Tbc1d9
|
APN |
8 |
83,966,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Tbc1d9
|
APN |
8 |
83,995,696 (GRCm39) |
splice site |
probably benign |
|
|
IGL02995:Tbc1d9
|
APN |
8 |
83,995,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03127:Tbc1d9
|
APN |
8 |
83,976,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03128:Tbc1d9
|
APN |
8 |
83,892,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
H9600:Tbc1d9
|
UTSW |
8 |
83,937,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Tbc1d9
|
UTSW |
8 |
83,960,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Tbc1d9
|
UTSW |
8 |
83,960,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Tbc1d9
|
UTSW |
8 |
83,991,466 (GRCm39) |
splice site |
probably benign |
|
|
R0525:Tbc1d9
|
UTSW |
8 |
83,995,614 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0528:Tbc1d9
|
UTSW |
8 |
83,937,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Tbc1d9
|
UTSW |
8 |
83,985,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1144:Tbc1d9
|
UTSW |
8 |
83,963,200 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1354:Tbc1d9
|
UTSW |
8 |
83,995,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1551:Tbc1d9
|
UTSW |
8 |
83,992,787 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1620:Tbc1d9
|
UTSW |
8 |
83,976,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Tbc1d9
|
UTSW |
8 |
83,976,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Tbc1d9
|
UTSW |
8 |
83,997,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Tbc1d9
|
UTSW |
8 |
83,997,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Tbc1d9
|
UTSW |
8 |
83,998,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:Tbc1d9
|
UTSW |
8 |
83,892,705 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
|
R2920:Tbc1d9
|
UTSW |
8 |
83,937,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3832:Tbc1d9
|
UTSW |
8 |
83,960,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:Tbc1d9
|
UTSW |
8 |
83,960,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3955:Tbc1d9
|
UTSW |
8 |
83,960,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:Tbc1d9
|
UTSW |
8 |
83,960,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Tbc1d9
|
UTSW |
8 |
83,960,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4117:Tbc1d9
|
UTSW |
8 |
83,992,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4467:Tbc1d9
|
UTSW |
8 |
83,937,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4533:Tbc1d9
|
UTSW |
8 |
83,997,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4568:Tbc1d9
|
UTSW |
8 |
83,997,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4694:Tbc1d9
|
UTSW |
8 |
83,960,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Tbc1d9
|
UTSW |
8 |
83,982,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5056:Tbc1d9
|
UTSW |
8 |
83,995,835 (GRCm39) |
missense |
probably benign |
|
|
R5073:Tbc1d9
|
UTSW |
8 |
83,960,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Tbc1d9
|
UTSW |
8 |
83,963,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5270:Tbc1d9
|
UTSW |
8 |
83,960,283 (GRCm39) |
missense |
probably benign |
|
|
R5618:Tbc1d9
|
UTSW |
8 |
83,969,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Tbc1d9
|
UTSW |
8 |
83,997,655 (GRCm39) |
missense |
probably benign |
|
|
R5793:Tbc1d9
|
UTSW |
8 |
83,998,069 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5908:Tbc1d9
|
UTSW |
8 |
83,976,174 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6258:Tbc1d9
|
UTSW |
8 |
83,937,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6584:Tbc1d9
|
UTSW |
8 |
83,987,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6888:Tbc1d9
|
UTSW |
8 |
83,998,217 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6897:Tbc1d9
|
UTSW |
8 |
83,892,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Tbc1d9
|
UTSW |
8 |
83,968,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7026:Tbc1d9
|
UTSW |
8 |
83,968,192 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7072:Tbc1d9
|
UTSW |
8 |
83,991,494 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7099:Tbc1d9
|
UTSW |
8 |
83,981,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Tbc1d9
|
UTSW |
8 |
83,937,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Tbc1d9
|
UTSW |
8 |
83,981,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7267:Tbc1d9
|
UTSW |
8 |
83,997,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Tbc1d9
|
UTSW |
8 |
83,997,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7457:Tbc1d9
|
UTSW |
8 |
83,963,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7552:Tbc1d9
|
UTSW |
8 |
83,966,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:Tbc1d9
|
UTSW |
8 |
83,969,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7804:Tbc1d9
|
UTSW |
8 |
83,963,341 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7978:Tbc1d9
|
UTSW |
8 |
83,966,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8150:Tbc1d9
|
UTSW |
8 |
83,982,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Tbc1d9
|
UTSW |
8 |
83,966,667 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8940:Tbc1d9
|
UTSW |
8 |
83,981,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Tbc1d9
|
UTSW |
8 |
83,998,180 (GRCm39) |
missense |
probably benign |
|
|
R9075:Tbc1d9
|
UTSW |
8 |
83,982,501 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9291:Tbc1d9
|
UTSW |
8 |
83,987,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9335:Tbc1d9
|
UTSW |
8 |
83,937,160 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9749:Tbc1d9
|
UTSW |
8 |
83,968,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0062:Tbc1d9
|
UTSW |
8 |
83,960,331 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTGGTAAGCCCCGTGAAG -3'
(R):5'- AGCAGGACAGCTTTGTTCTC -3'
Sequencing Primer
(F):5'- CGGGGAATACCTCACTTTGC -3'
(R):5'- GACAGCTTTGTTCTCCCGGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation