Incidental Mutation 'R7508:Tbc1d9b'
| ID |
581904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9b
|
| Ensembl Gene |
ENSMUSG00000036644 |
| Gene Name |
TBC1 domain family, member 9B |
| Synonyms |
2700008N14Rik |
| MMRRC Submission |
045581-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.553)
|
| Stock # |
R7508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50022223-50063612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50035947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 148
(F148L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093138]
[ENSMUST00000101270]
|
| AlphaFold |
Q5SVR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093138
AA Change: F148L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: F148L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
GRAM
|
142 |
209 |
1.21e-26 |
SMART |
|
GRAM
|
288 |
356 |
3.02e-22 |
SMART |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
TBC
|
506 |
719 |
1.18e-57 |
SMART |
|
Blast:TBC
|
727 |
810 |
2e-28 |
BLAST |
|
low complexity region
|
1124 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1144 |
1155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101270
AA Change: F148L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: F148L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
GRAM
|
142 |
209 |
1.21e-26 |
SMART |
|
GRAM
|
288 |
356 |
3.02e-22 |
SMART |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
TBC
|
506 |
719 |
1.18e-57 |
SMART |
|
Blast:TBC
|
727 |
810 |
3e-28 |
BLAST |
|
low complexity region
|
970 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1155 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1172 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
C |
T |
5: 50,174,209 (GRCm39) |
A110T |
probably benign |
Het |
| Adra1a |
A |
C |
14: 66,875,384 (GRCm39) |
I120L |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,740,839 (GRCm39) |
V1078I |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,547,707 (GRCm39) |
H590R |
probably benign |
Het |
| Cdh12 |
T |
G |
15: 21,583,851 (GRCm39) |
L564V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,713,821 (GRCm39) |
H1900Q |
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,473,164 (GRCm39) |
M918K |
probably benign |
Het |
| Cmtm6 |
A |
G |
9: 114,560,308 (GRCm39) |
E2G |
probably damaging |
Het |
| Ctsg |
A |
G |
14: 56,337,998 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
T |
A |
4: 51,229,256 (GRCm39) |
|
probably null |
Het |
| Dna2 |
A |
G |
10: 62,807,772 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
G |
A |
4: 41,614,323 (GRCm39) |
R333H |
probably benign |
Het |
| Egln3 |
T |
C |
12: 54,227,414 (GRCm39) |
D239G |
probably benign |
Het |
| Eif1ad12 |
T |
C |
12: 87,541,612 (GRCm39) |
M41T |
possibly damaging |
Het |
| Fam13a |
A |
T |
6: 58,964,269 (GRCm39) |
D54E |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,636,675 (GRCm39) |
V2159A |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,157 (GRCm39) |
F105L |
probably benign |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Hacd4 |
A |
G |
4: 88,355,715 (GRCm39) |
F57L |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,188 (GRCm39) |
D500G |
probably benign |
Het |
| Ighv1-26 |
G |
A |
12: 114,752,062 (GRCm39) |
S94F |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
| Klra7 |
A |
T |
6: 130,207,054 (GRCm39) |
|
probably null |
Het |
| Lyl1 |
T |
C |
8: 85,430,929 (GRCm39) |
V277A |
probably benign |
Het |
| Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,807,445 (GRCm39) |
L1627P |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,813,249 (GRCm39) |
C218S |
possibly damaging |
Het |
| Or2b6 |
T |
A |
13: 21,822,779 (GRCm39) |
I305F |
probably benign |
Het |
| Or8u3-ps |
A |
G |
2: 85,952,282 (GRCm39) |
N5S |
possibly damaging |
Het |
| Pde5a |
A |
G |
3: 122,611,679 (GRCm39) |
D571G |
probably damaging |
Het |
| Pgc |
A |
G |
17: 48,045,111 (GRCm39) |
E343G |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,739,040 (GRCm39) |
F667L |
possibly damaging |
Het |
| Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,189,896 (GRCm39) |
Q1565* |
probably null |
Het |
| Rapgef4 |
T |
A |
2: 72,036,077 (GRCm39) |
N523K |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,719,651 (GRCm39) |
L557P |
probably damaging |
Het |
| Rhobtb3 |
C |
T |
13: 76,026,976 (GRCm39) |
V466I |
probably benign |
Het |
| Rnpep |
A |
G |
1: 135,206,596 (GRCm39) |
V166A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,056,954 (GRCm39) |
K1046R |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,037,465 (GRCm39) |
V525A |
probably benign |
Het |
| Slc1a4 |
A |
T |
11: 20,256,487 (GRCm39) |
I448N |
probably damaging |
Het |
| Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,089,885 (GRCm39) |
|
probably null |
Het |
| Spag16 |
A |
T |
1: 69,926,679 (GRCm39) |
N258I |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,443,633 (GRCm39) |
L2076Q |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,436,152 (GRCm39) |
H704L |
probably damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,202,176 (GRCm39) |
Y12H |
probably benign |
Het |
| Traj6 |
C |
T |
14: 54,450,171 (GRCm39) |
T9M |
|
Het |
| Ttll4 |
A |
G |
1: 74,726,418 (GRCm39) |
N672S |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,953,437 (GRCm39) |
H790Q |
possibly damaging |
Het |
| Usp49 |
G |
A |
17: 47,983,205 (GRCm39) |
R70Q |
probably benign |
Het |
| Vmn2r32 |
C |
T |
7: 7,470,373 (GRCm39) |
V515M |
possibly damaging |
Het |
| Wars1 |
A |
G |
12: 108,848,801 (GRCm39) |
S49P |
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,049,604 (GRCm39) |
Q386L |
possibly damaging |
Het |
| Zfp369 |
T |
C |
13: 65,427,087 (GRCm39) |
F10S |
unknown |
Het |
| Zfp512 |
C |
G |
5: 31,630,883 (GRCm39) |
I408M |
possibly damaging |
Het |
| Zfp952 |
A |
G |
17: 33,222,756 (GRCm39) |
I412V |
probably benign |
Het |
|
| Other mutations in Tbc1d9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Tbc1d9b
|
APN |
11 |
50,052,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01870:Tbc1d9b
|
APN |
11 |
50,052,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Tbc1d9b
|
APN |
11 |
50,054,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02105:Tbc1d9b
|
APN |
11 |
50,040,653 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02264:Tbc1d9b
|
APN |
11 |
50,040,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02801:Tbc1d9b
|
APN |
11 |
50,043,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03111:Tbc1d9b
|
APN |
11 |
50,049,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Tbc1d9b
|
UTSW |
11 |
50,042,773 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0102:Tbc1d9b
|
UTSW |
11 |
50,026,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Tbc1d9b
|
UTSW |
11 |
50,049,261 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0131:Tbc1d9b
|
UTSW |
11 |
50,026,751 (GRCm39) |
missense |
probably benign |
|
|
R0463:Tbc1d9b
|
UTSW |
11 |
50,035,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0472:Tbc1d9b
|
UTSW |
11 |
50,059,055 (GRCm39) |
splice site |
probably null |
|
|
R0846:Tbc1d9b
|
UTSW |
11 |
50,062,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1099:Tbc1d9b
|
UTSW |
11 |
50,037,135 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1276:Tbc1d9b
|
UTSW |
11 |
50,043,476 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1642:Tbc1d9b
|
UTSW |
11 |
50,040,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2679:Tbc1d9b
|
UTSW |
11 |
50,052,528 (GRCm39) |
splice site |
probably null |
|
|
R2915:Tbc1d9b
|
UTSW |
11 |
50,040,563 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3825:Tbc1d9b
|
UTSW |
11 |
50,061,954 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3964:Tbc1d9b
|
UTSW |
11 |
50,059,523 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4051:Tbc1d9b
|
UTSW |
11 |
50,062,070 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4705:Tbc1d9b
|
UTSW |
11 |
50,031,289 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4783:Tbc1d9b
|
UTSW |
11 |
50,062,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5330:Tbc1d9b
|
UTSW |
11 |
50,037,140 (GRCm39) |
missense |
probably benign |
|
|
R5331:Tbc1d9b
|
UTSW |
11 |
50,037,140 (GRCm39) |
missense |
probably benign |
|
|
R5888:Tbc1d9b
|
UTSW |
11 |
50,031,311 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5949:Tbc1d9b
|
UTSW |
11 |
50,038,876 (GRCm39) |
missense |
probably benign |
|
|
R6144:Tbc1d9b
|
UTSW |
11 |
50,037,155 (GRCm39) |
missense |
probably benign |
|
|
R6166:Tbc1d9b
|
UTSW |
11 |
50,026,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Tbc1d9b
|
UTSW |
11 |
50,022,324 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6432:Tbc1d9b
|
UTSW |
11 |
50,037,155 (GRCm39) |
missense |
probably benign |
|
|
R6856:Tbc1d9b
|
UTSW |
11 |
50,059,573 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7110:Tbc1d9b
|
UTSW |
11 |
50,054,657 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7134:Tbc1d9b
|
UTSW |
11 |
50,043,519 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7372:Tbc1d9b
|
UTSW |
11 |
50,059,515 (GRCm39) |
splice site |
probably null |
|
|
R7464:Tbc1d9b
|
UTSW |
11 |
50,022,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Tbc1d9b
|
UTSW |
11 |
50,061,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7730:Tbc1d9b
|
UTSW |
11 |
50,026,742 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7747:Tbc1d9b
|
UTSW |
11 |
50,052,447 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8260:Tbc1d9b
|
UTSW |
11 |
50,055,013 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8345:Tbc1d9b
|
UTSW |
11 |
50,040,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8711:Tbc1d9b
|
UTSW |
11 |
50,047,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Tbc1d9b
|
UTSW |
11 |
50,061,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9012:Tbc1d9b
|
UTSW |
11 |
50,040,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Tbc1d9b
|
UTSW |
11 |
50,054,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9655:Tbc1d9b
|
UTSW |
11 |
50,059,610 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9794:Tbc1d9b
|
UTSW |
11 |
50,062,005 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0065:Tbc1d9b
|
UTSW |
11 |
50,059,010 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCCTAGATTCTGGGTTCCTG -3'
(R):5'- GCTTTGGATCAGCAATGAGGTC -3'
Sequencing Primer
(F):5'- AGATTCTGGGTTCCTGGCCTC -3'
(R):5'- TCAGCAATGAGGTCAGGGAGTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation