Incidental Mutation 'R7457:Tbc1d9'
ID |
578202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9
|
Ensembl Gene |
ENSMUSG00000031709 |
Gene Name |
TBC1 domain family, member 9 |
Synonyms |
C76116, 4933431N12Rik |
MMRRC Submission |
045531-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R7457 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 83963309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 340
(K340N)
|
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 damaging
Transcript: ENSMUST00000093393
AA Change: K340N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091093 Gene: ENSMUSG00000031709 AA Change: K340N
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,374,635 (GRCm39) |
H452Q |
probably damaging |
Het |
Adcy8 |
A |
T |
15: 64,792,529 (GRCm39) |
N142K |
possibly damaging |
Het |
Alkbh8 |
T |
A |
9: 3,343,056 (GRCm39) |
S57R |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,420,192 (GRCm39) |
T780A |
probably benign |
Het |
Atp9b |
A |
T |
18: 80,960,833 (GRCm39) |
|
probably null |
Het |
Cdyl2 |
A |
T |
8: 117,305,935 (GRCm39) |
V442E |
probably damaging |
Het |
Ces2a |
C |
T |
8: 105,464,021 (GRCm39) |
R218C |
possibly damaging |
Het |
Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
Clec11a |
T |
C |
7: 43,955,379 (GRCm39) |
T139A |
probably benign |
Het |
Clstn1 |
A |
T |
4: 149,719,373 (GRCm39) |
T411S |
probably benign |
Het |
Commd5 |
A |
T |
15: 76,784,824 (GRCm39) |
S74C |
probably damaging |
Het |
Cyp3a59 |
C |
A |
5: 146,041,560 (GRCm39) |
P368Q |
probably damaging |
Het |
Dennd4b |
A |
G |
3: 90,176,622 (GRCm39) |
M309V |
probably benign |
Het |
Dhrs9 |
T |
A |
2: 69,231,611 (GRCm39) |
V257E |
probably benign |
Het |
Dhx16 |
T |
C |
17: 36,201,952 (GRCm39) |
V993A |
probably damaging |
Het |
Dok5 |
A |
T |
2: 170,712,735 (GRCm39) |
Q247L |
probably benign |
Het |
E330034G19Rik |
A |
T |
14: 24,359,582 (GRCm39) |
E331V |
unknown |
Het |
Efs |
A |
G |
14: 55,157,451 (GRCm39) |
S287P |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,193,667 (GRCm39) |
N1384S |
possibly damaging |
Het |
Flt4 |
A |
G |
11: 49,521,155 (GRCm39) |
E388G |
possibly damaging |
Het |
Fmn2 |
T |
A |
1: 174,331,303 (GRCm39) |
|
probably null |
Het |
Fmo4 |
T |
C |
1: 162,621,672 (GRCm39) |
Y513C |
probably benign |
Het |
Gbp4 |
T |
C |
5: 105,267,419 (GRCm39) |
E500G |
probably damaging |
Het |
Gm29106 |
T |
C |
1: 118,126,982 (GRCm39) |
S225P |
probably damaging |
Het |
Gstt2 |
G |
A |
10: 75,668,354 (GRCm39) |
R134W |
probably damaging |
Het |
Gucy1b2 |
T |
C |
14: 62,630,401 (GRCm39) |
T782A |
probably benign |
Het |
Gzf1 |
G |
T |
2: 148,532,002 (GRCm39) |
R543L |
probably damaging |
Het |
H2-Eb2 |
G |
A |
17: 34,553,321 (GRCm39) |
G169E |
probably damaging |
Het |
Hdhd3 |
T |
A |
4: 62,418,027 (GRCm39) |
R50W |
probably damaging |
Het |
Hdlbp |
T |
C |
1: 93,355,944 (GRCm39) |
K407E |
probably benign |
Het |
Isl2 |
A |
G |
9: 55,452,240 (GRCm39) |
T271A |
probably benign |
Het |
Kbtbd7 |
GTCTCTC |
GTC |
14: 79,665,364 (GRCm39) |
|
probably null |
Het |
Kdm4b |
T |
A |
17: 56,703,319 (GRCm39) |
N671K |
probably damaging |
Het |
Lats1 |
T |
A |
10: 7,586,655 (GRCm39) |
L939H |
probably damaging |
Het |
Map3k1 |
A |
T |
13: 111,892,789 (GRCm39) |
M822K |
probably damaging |
Het |
Mettl18 |
C |
A |
1: 163,824,330 (GRCm39) |
T217N |
probably damaging |
Het |
Nav3 |
A |
T |
10: 109,532,189 (GRCm39) |
Y2083* |
probably null |
Het |
Nckap1l |
T |
C |
15: 103,362,233 (GRCm39) |
|
probably benign |
Het |
Nkx2-3 |
A |
G |
19: 43,600,986 (GRCm39) |
D16G |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,167,807 (GRCm39) |
S697P |
probably benign |
Het |
Or14j4 |
T |
C |
17: 37,921,456 (GRCm39) |
K62R |
possibly damaging |
Het |
Or1e29 |
G |
C |
11: 73,667,652 (GRCm39) |
S167C |
probably benign |
Het |
Or4k6 |
A |
T |
14: 50,475,825 (GRCm39) |
N172K |
probably damaging |
Het |
Or6c75 |
T |
C |
10: 129,337,575 (GRCm39) |
V266A |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,107,503 (GRCm39) |
D638V |
probably damaging |
Het |
Pot1a |
T |
C |
6: 25,771,621 (GRCm39) |
D200G |
probably benign |
Het |
Ptprs |
G |
T |
17: 56,726,502 (GRCm39) |
T1366K |
probably damaging |
Het |
Sass6 |
A |
T |
3: 116,413,813 (GRCm39) |
R505S |
probably benign |
Het |
Slc30a6 |
T |
C |
17: 74,714,233 (GRCm39) |
I84T |
probably benign |
Het |
Sox10 |
A |
T |
15: 79,040,339 (GRCm39) |
F400L |
probably benign |
Het |
Spata31d1b |
A |
T |
13: 59,864,723 (GRCm39) |
I624F |
probably damaging |
Het |
Stpg4 |
A |
G |
17: 87,735,006 (GRCm39) |
|
probably null |
Het |
Tspan12 |
T |
A |
6: 21,772,682 (GRCm39) |
H289L |
probably benign |
Het |
Ubr1 |
T |
A |
2: 120,748,309 (GRCm39) |
T809S |
probably benign |
Het |
Vmn1r43 |
C |
T |
6: 89,847,172 (GRCm39) |
V105M |
probably damaging |
Het |
Vmn1r49 |
A |
G |
6: 90,049,534 (GRCm39) |
V156A |
probably benign |
Het |
Wnt5a |
A |
G |
14: 28,240,236 (GRCm39) |
|
probably null |
Het |
Wwp2 |
T |
A |
8: 108,244,592 (GRCm39) |
S255T |
probably benign |
Het |
Zbtb10 |
A |
G |
3: 9,316,538 (GRCm39) |
T117A |
possibly damaging |
Het |
Zfp800 |
C |
T |
6: 28,244,228 (GRCm39) |
V246I |
probably benign |
Het |
Zfp955a |
G |
T |
17: 33,463,025 (GRCm39) |
Y35* |
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 |
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 |
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'- AAATTATGTGCTCAGGGGTTGAAG -3'
(R):5'- TGTGGTCATGGTGCACGAAC -3'
Sequencing Primer
(F):5'- AACAGCAGTCATTGGCTTGC -3'
(R):5'- GGTGCACGAACCAATACACAC -3'
|
Posted On |
2019-10-07 |