Incidental Mutation 'IGL02938:Tbc1d9'
| ID |
364444 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL02938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 83995696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034145
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
| 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 benign
Transcript: ENSMUST00000093393
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211568
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,180,979 (GRCm39) |
T1152A |
possibly damaging |
Het |
| Adgra3 |
T |
C |
5: 50,118,659 (GRCm39) |
D963G |
probably benign |
Het |
| Adrm1 |
T |
A |
2: 179,817,395 (GRCm39) |
D287E |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,072,831 (GRCm39) |
D396G |
probably damaging |
Het |
| Ankle1 |
C |
T |
8: 71,858,896 (GRCm39) |
A43V |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,448,281 (GRCm39) |
I1692V |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,802 (GRCm39) |
V588A |
probably benign |
Het |
| Ccdc62 |
T |
A |
5: 124,072,247 (GRCm39) |
V4E |
probably benign |
Het |
| Cdh16 |
A |
T |
8: 105,343,561 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,696 (GRCm39) |
C276S |
probably damaging |
Het |
| Cyp2c29 |
T |
A |
19: 39,275,567 (GRCm39) |
D2E |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,035 (GRCm39) |
V277E |
possibly damaging |
Het |
| Defa35 |
C |
T |
8: 21,555,930 (GRCm39) |
|
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,340,376 (GRCm39) |
D707E |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,852,669 (GRCm39) |
S28P |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,994,667 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,928,365 (GRCm39) |
|
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,640,754 (GRCm39) |
|
probably null |
Het |
| Esr1 |
T |
A |
10: 4,733,872 (GRCm39) |
M224K |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,615,109 (GRCm39) |
I279T |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,285 (GRCm39) |
I478T |
probably benign |
Het |
| Glb1l3 |
A |
G |
9: 26,738,055 (GRCm39) |
V368A |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,410,637 (GRCm39) |
F5S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,577,264 (GRCm39) |
E1872K |
unknown |
Het |
| Irak3 |
A |
G |
10: 120,018,429 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
A |
T |
12: 4,747,216 (GRCm39) |
I1206F |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,670,988 (GRCm39) |
V314E |
probably benign |
Het |
| Lrrc8a |
C |
T |
2: 30,145,698 (GRCm39) |
R171W |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,390,024 (GRCm39) |
T364A |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,753,478 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,872,729 (GRCm39) |
F89Y |
probably damaging |
Het |
| Myo1b |
A |
C |
1: 51,840,337 (GRCm39) |
|
probably null |
Het |
| Myo1h |
T |
C |
5: 114,497,000 (GRCm39) |
Y819H |
probably damaging |
Het |
| Nedd1 |
G |
A |
10: 92,525,519 (GRCm39) |
Q597* |
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or5an9 |
A |
G |
19: 12,187,046 (GRCm39) |
T39A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,789,761 (GRCm39) |
S792P |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,866,449 (GRCm39) |
N457S |
probably benign |
Het |
| Plekho2 |
T |
C |
9: 65,465,902 (GRCm39) |
E162G |
possibly damaging |
Het |
| Pou1f1 |
A |
T |
16: 65,320,430 (GRCm39) |
T40S |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,836,059 (GRCm39) |
V500A |
probably damaging |
Het |
| Pygo1 |
C |
T |
9: 72,852,020 (GRCm39) |
A69V |
probably damaging |
Het |
| Slc18a3 |
A |
C |
14: 32,185,772 (GRCm39) |
Y204D |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,707,785 (GRCm39) |
V261A |
possibly damaging |
Het |
| Tacc2 |
A |
T |
7: 130,330,671 (GRCm39) |
K208N |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,738,536 (GRCm39) |
D403G |
probably damaging |
Het |
| Tdrkh |
T |
C |
3: 94,336,657 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,964,982 (GRCm39) |
L180H |
probably damaging |
Het |
| Tm4sf19 |
T |
A |
16: 32,224,733 (GRCm39) |
L27Q |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,157 (GRCm39) |
V192A |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,543,328 (GRCm39) |
M33219I |
probably damaging |
Het |
| Vmn1r52 |
A |
T |
6: 90,156,295 (GRCm39) |
M200L |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,263 (GRCm39) |
H739L |
probably benign |
Het |
| Wdr20rt |
T |
C |
12: 65,272,692 (GRCm39) |
F52L |
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,569,227 (GRCm39) |
G619D |
probably benign |
Het |
| Zfyve19 |
T |
C |
2: 119,041,999 (GRCm39) |
V156A |
probably benign |
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 |
|
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 |
|
R7728:Tbc1d9
|
UTSW |
8 |
83,985,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation