Incidental Mutation 'R7172:Tbc1d9'
| ID |
558350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
045264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R7172 (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 G
at 83981390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 686
(M686V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: M453V
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: M453V
| 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: M686V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: M686V
| 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 |
|
| Meta Mutation Damage Score |
0.2985 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
A |
T |
2: 122,480,238 (GRCm39) |
Y33F |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,897,189 (GRCm39) |
Q623* |
probably null |
Het |
| Abcb1a |
A |
T |
5: 8,752,399 (GRCm39) |
I457F |
probably benign |
Het |
| Abcb9 |
G |
A |
5: 124,200,869 (GRCm39) |
Q716* |
probably null |
Het |
| Abhd15 |
T |
C |
11: 77,406,122 (GRCm39) |
V33A |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,157 (GRCm39) |
D108G |
probably damaging |
Het |
| Adamts3 |
G |
A |
5: 90,030,860 (GRCm39) |
|
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,281 (GRCm39) |
V314L |
probably damaging |
Het |
| Axl |
G |
T |
7: 25,486,399 (GRCm39) |
Q102K |
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,851,841 (GRCm39) |
S488P |
possibly damaging |
Het |
| Cnn1 |
C |
A |
9: 22,016,790 (GRCm39) |
A126D |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,363,981 (GRCm39) |
K537* |
probably null |
Het |
| Cxcl2 |
A |
G |
5: 91,051,879 (GRCm39) |
T26A |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,931,957 (GRCm39) |
K3672* |
probably null |
Het |
| Fadd |
G |
T |
7: 144,135,908 (GRCm39) |
H73Q |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,828 (GRCm39) |
N1095D |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,218,603 (GRCm39) |
S789P |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,431,339 (GRCm39) |
V289I |
probably benign |
Het |
| Gm17728 |
A |
C |
17: 9,641,220 (GRCm39) |
D110A |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 15,933,429 (GRCm39) |
S45T |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,917,049 (GRCm39) |
S161P |
possibly damaging |
Het |
| Gpr89 |
C |
T |
3: 96,787,385 (GRCm39) |
|
probably null |
Het |
| Gps2 |
C |
T |
11: 69,807,262 (GRCm39) |
T306I |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,629,450 (GRCm39) |
Y936H |
possibly damaging |
Het |
| Hoxa5 |
A |
G |
6: 52,181,276 (GRCm39) |
Y19H |
probably damaging |
Het |
| Ifit2 |
G |
T |
19: 34,550,894 (GRCm39) |
A145S |
probably benign |
Het |
| Impdh2 |
G |
T |
9: 108,437,809 (GRCm39) |
C26F |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,100 (GRCm39) |
Y552H |
possibly damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,576,691 (GRCm39) |
M254K |
probably damaging |
Het |
| Klhdc9 |
A |
T |
1: 171,188,228 (GRCm39) |
M1K |
probably null |
Het |
| Klk1b11 |
A |
T |
7: 43,648,671 (GRCm39) |
D194V |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,111,540 (GRCm39) |
I2264V |
|
Het |
| Lmntd2 |
A |
G |
7: 140,793,554 (GRCm39) |
S111P |
unknown |
Het |
| Megf8 |
T |
C |
7: 25,043,092 (GRCm39) |
L1338P |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,372,321 (GRCm39) |
E127K |
possibly damaging |
Het |
| Mmp25 |
A |
T |
17: 23,863,762 (GRCm39) |
C23S |
probably benign |
Het |
| Mup8 |
A |
T |
4: 60,222,425 (GRCm39) |
C15* |
probably null |
Het |
| Myh2 |
A |
T |
11: 67,079,527 (GRCm39) |
T995S |
probably benign |
Het |
| Myo1d |
C |
T |
11: 80,483,621 (GRCm39) |
V863I |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,052 (GRCm39) |
|
probably null |
Het |
| Nat10 |
G |
T |
2: 103,563,314 (GRCm39) |
P562T |
probably damaging |
Het |
| Nedd9 |
C |
G |
13: 41,470,280 (GRCm39) |
R291P |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,781,617 (GRCm39) |
H613Q |
probably benign |
Het |
| Ntn1 |
A |
T |
11: 68,276,493 (GRCm39) |
C152S |
probably damaging |
Het |
| Or2av9 |
T |
A |
11: 58,380,571 (GRCm39) |
I337F |
unknown |
Het |
| Pam |
A |
T |
1: 97,762,203 (GRCm39) |
D793E |
probably benign |
Het |
| Patz1 |
T |
G |
11: 3,258,032 (GRCm39) |
V631G |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,338,597 (GRCm39) |
V1068M |
probably damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,193 (GRCm39) |
V230A |
probably benign |
Het |
| Prmt5 |
A |
G |
14: 54,752,343 (GRCm39) |
F151S |
possibly damaging |
Het |
| Pygo2 |
G |
A |
3: 89,339,943 (GRCm39) |
V114I |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,156 (GRCm39) |
S220R |
probably benign |
Het |
| Rdh7 |
T |
G |
10: 127,724,218 (GRCm39) |
S89R |
possibly damaging |
Het |
| Rgsl1 |
A |
C |
1: 153,701,966 (GRCm39) |
W163G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,492,002 (GRCm39) |
N3783I |
probably damaging |
Het |
| Shld2 |
G |
A |
14: 33,959,525 (GRCm39) |
T819I |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,623,105 (GRCm39) |
L644P |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,732,896 (GRCm39) |
S43P |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,315,420 (GRCm39) |
|
probably null |
Het |
| Tdrp |
G |
A |
8: 14,024,579 (GRCm39) |
R22* |
probably null |
Het |
| Tmem245 |
A |
G |
4: 56,903,946 (GRCm39) |
V598A |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,994 (GRCm39) |
E1994G |
probably damaging |
Het |
| Trcg1 |
T |
A |
9: 57,155,618 (GRCm39) |
V757E |
probably benign |
Het |
| Trim10 |
A |
G |
17: 37,180,955 (GRCm39) |
E62G |
possibly damaging |
Het |
| Ushbp1 |
G |
T |
8: 71,841,410 (GRCm39) |
A473E |
possibly damaging |
Het |
| Vmn1r50 |
A |
C |
6: 90,084,386 (GRCm39) |
K44Q |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,838,294 (GRCm39) |
N68D |
probably damaging |
Het |
| Wdr83 |
A |
G |
8: 85,806,453 (GRCm39) |
V115A |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,845,809 (GRCm39) |
L28P |
possibly damaging |
Het |
| Zfp738 |
C |
T |
13: 67,818,527 (GRCm39) |
C488Y |
probably damaging |
Het |
| Zfp987 |
T |
G |
4: 146,058,572 (GRCm39) |
L50W |
probably damaging |
Het |
| Zfyve28 |
G |
T |
5: 34,391,753 (GRCm39) |
R133S |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,479,469 (GRCm39) |
C1007* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCCATCCATTTGCTGAGGTTC -3'
(R):5'- TCAAACTCATGAGGTGGCCC -3'
Sequencing Primer
(F):5'- TTCTCCAGTAAGATGCAGGGCTAAC -3'
(R):5'- CCAGAGCCAGCTATAGCACGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation