Incidental Mutation 'R9075:Tbc1d9'
ID |
689737 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9
|
Ensembl Gene |
ENSMUSG00000031709 |
Gene Name |
TBC1 domain family, member 9 |
Synonyms |
C76116, 4933431N12Rik |
MMRRC Submission |
068896-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R9075 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83982501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 762
(V762A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
AlphaFold |
Q3UYK3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: V529A
|
SMART Domains |
Protein: ENSMUSP00000034145 Gene: ENSMUSG00000031709 AA Change: V529A
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
AA Change: V762A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000091093 Gene: ENSMUSG00000031709 AA Change: V762A
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
G |
1: 120,097,014 (GRCm39) |
S137A |
|
Het |
Actl6a |
G |
T |
3: 32,769,641 (GRCm39) |
C152F |
possibly damaging |
Het |
Adam26b |
A |
T |
8: 43,973,405 (GRCm39) |
D532E |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,598,793 (GRCm39) |
N878S |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,975,597 (GRCm39) |
S387P |
possibly damaging |
Het |
Cdh23 |
A |
G |
10: 60,153,541 (GRCm39) |
S2350P |
probably damaging |
Het |
Cdh4 |
A |
G |
2: 179,501,940 (GRCm39) |
D300G |
probably damaging |
Het |
Cngb1 |
T |
C |
8: 95,979,993 (GRCm39) |
Y969C |
probably damaging |
Het |
Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
Fam168a |
T |
A |
7: 100,484,582 (GRCm39) |
V224D |
probably damaging |
Het |
Fam210a |
C |
T |
18: 68,405,693 (GRCm39) |
V177M |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,447,646 (GRCm39) |
I1150F |
probably damaging |
Het |
Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
Gm11555 |
C |
T |
11: 99,540,694 (GRCm39) |
C95Y |
|
Het |
Gns |
A |
G |
10: 121,226,542 (GRCm39) |
N397S |
probably benign |
Het |
Grin2b |
CA |
C |
6: 135,709,509 (GRCm39) |
|
probably null |
Het |
Ifi204 |
T |
A |
1: 173,589,282 (GRCm39) |
N50Y |
possibly damaging |
Het |
Iqub |
T |
A |
6: 24,446,124 (GRCm39) |
I767F |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,857,588 (GRCm39) |
L3087Q |
probably damaging |
Het |
Mars2 |
A |
G |
1: 55,278,154 (GRCm39) |
T586A |
probably damaging |
Het |
Mrps28 |
G |
T |
3: 8,867,312 (GRCm39) |
S185R |
probably benign |
Het |
Nphp4 |
T |
C |
4: 152,591,905 (GRCm39) |
Y363H |
probably damaging |
Het |
Nploc4 |
T |
C |
11: 120,304,526 (GRCm39) |
T232A |
possibly damaging |
Het |
Pate3 |
A |
G |
9: 35,557,893 (GRCm39) |
|
probably null |
Het |
Pcdh18 |
G |
A |
3: 49,699,339 (GRCm39) |
A1041V |
probably benign |
Het |
Plpp5 |
T |
A |
8: 26,210,379 (GRCm39) |
Y50N |
probably benign |
Het |
Ppp4r4 |
G |
T |
12: 103,570,290 (GRCm39) |
G755* |
probably null |
Het |
Psmd14 |
T |
A |
2: 61,607,021 (GRCm39) |
V156D |
probably damaging |
Het |
Ptch1 |
G |
A |
13: 63,681,335 (GRCm39) |
R651C |
possibly damaging |
Het |
Rai14 |
T |
C |
15: 10,589,403 (GRCm39) |
E265G |
probably damaging |
Het |
Rbmx |
G |
A |
X: 56,432,717 (GRCm39) |
P301L |
probably benign |
Het |
Rimbp2 |
T |
A |
5: 128,851,312 (GRCm39) |
D878V |
probably damaging |
Het |
Sarm1 |
T |
C |
11: 78,374,023 (GRCm39) |
K668R |
probably benign |
Het |
Slc10a2 |
C |
A |
8: 5,155,267 (GRCm39) |
|
probably benign |
Het |
Slc15a3 |
T |
C |
19: 10,826,094 (GRCm39) |
S262P |
probably damaging |
Het |
Slf2 |
T |
C |
19: 44,930,860 (GRCm39) |
Y646H |
probably damaging |
Het |
Smpd4 |
C |
T |
16: 17,457,849 (GRCm39) |
P406S |
unknown |
Het |
Sv2b |
A |
G |
7: 74,789,845 (GRCm39) |
V396A |
possibly damaging |
Het |
Swt1 |
A |
G |
1: 151,246,245 (GRCm39) |
|
probably benign |
Het |
Sympk |
A |
G |
7: 18,776,563 (GRCm39) |
E485G |
probably benign |
Het |
Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
Tie1 |
C |
A |
4: 118,341,356 (GRCm39) |
G275V |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,754,259 (GRCm39) |
Y998C |
probably damaging |
Het |
Trappc10 |
A |
T |
10: 78,040,130 (GRCm39) |
V607E |
possibly damaging |
Het |
Trim69 |
A |
T |
2: 122,009,264 (GRCm39) |
R441S |
probably benign |
Het |
Trio |
G |
T |
15: 27,774,022 (GRCm39) |
S1814* |
probably null |
Het |
Vmn1r192 |
C |
T |
13: 22,371,333 (GRCm39) |
V296I |
probably benign |
Het |
Vmn1r223 |
A |
G |
13: 23,433,600 (GRCm39) |
S65G |
possibly damaging |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r41 |
A |
G |
7: 8,141,250 (GRCm39) |
V738A |
probably benign |
Het |
Zfp408 |
A |
G |
2: 91,476,065 (GRCm39) |
V363A |
possibly damaging |
Het |
Zfp583 |
A |
T |
7: 6,319,870 (GRCm39) |
C381S |
probably 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 |
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 |
|
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'- TTCAGTCACAACGACCCAGG -3'
(R):5'- TCCAGCCTTAATCTTTATGAAGCAGC -3'
Sequencing Primer
(F):5'- TCCCCAGTGCTTCAAGGAGAG -3'
(R):5'- ATGAAGCAGCTGGATTCTTGTATTC -3'
|
Posted On |
2021-11-19 |