Incidental Mutation 'R9335:Tbc1d9'
| ID |
707081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R9335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83937160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 81
(G81C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
| AlphaFold |
Q3UYK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034145
AA Change: G81C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: G81C
| 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 |
possibly damaging
Transcript: ENSMUST00000093393
AA Change: G81C
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: G81C
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
T |
16: 90,852,830 (GRCm39) |
T102K |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,698,086 (GRCm39) |
D496V |
probably damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,510 (GRCm39) |
M546I |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,409,889 (GRCm39) |
N352K |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,228,236 (GRCm39) |
D1319E |
probably damaging |
Het |
| Atl2 |
A |
G |
17: 80,160,207 (GRCm39) |
I460T |
probably benign |
Het |
| Brms1l |
C |
A |
12: 55,888,431 (GRCm39) |
T73K |
possibly damaging |
Het |
| C1rl |
A |
T |
6: 124,482,341 (GRCm39) |
H154L |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,279,014 (GRCm39) |
L709Q |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,915,431 (GRCm39) |
V716D |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,443,711 (GRCm39) |
S796P |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,078,674 (GRCm39) |
M530K |
probably damaging |
Het |
| Dcbld2 |
A |
T |
16: 58,272,141 (GRCm39) |
Q399L |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,175,611 (GRCm39) |
Y138H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,625,489 (GRCm39) |
I107V |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,112,149 (GRCm39) |
V2480G |
possibly damaging |
Het |
| Ect2l |
T |
A |
10: 18,077,032 (GRCm39) |
T24S |
probably null |
Het |
| Egfr |
C |
A |
11: 16,820,991 (GRCm39) |
T302K |
probably damaging |
Het |
| Eid1 |
T |
G |
2: 125,515,578 (GRCm39) |
I156S |
possibly damaging |
Het |
| Elmod1 |
A |
T |
9: 53,843,116 (GRCm39) |
W21R |
probably benign |
Het |
| Enah |
G |
A |
1: 181,749,450 (GRCm39) |
P463L |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,966,529 (GRCm39) |
Y602C |
probably benign |
Het |
| Ermap |
T |
A |
4: 119,035,545 (GRCm39) |
Y481F |
probably damaging |
Het |
| Fam114a2 |
G |
T |
11: 57,397,748 (GRCm39) |
T231N |
possibly damaging |
Het |
| Gdap1 |
A |
G |
1: 17,231,389 (GRCm39) |
T245A |
probably benign |
Het |
| Glmp |
T |
A |
3: 88,235,563 (GRCm39) |
V368D |
probably damaging |
Het |
| Gm10203 |
C |
T |
6: 149,031,815 (GRCm39) |
A40V |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hao2 |
C |
A |
3: 98,791,010 (GRCm39) |
V55L |
possibly damaging |
Het |
| Hemgn |
A |
T |
4: 46,394,647 (GRCm39) |
S488T |
probably benign |
Het |
| Ighv12-3 |
C |
T |
12: 114,330,312 (GRCm39) |
G61E |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,346,478 (GRCm39) |
E986G |
probably damaging |
Het |
| Laptm5 |
T |
G |
4: 130,656,839 (GRCm39) |
S167A |
|
Het |
| Lmtk3 |
A |
T |
7: 45,442,165 (GRCm39) |
Y377F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,258,983 (GRCm39) |
I4569T |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,866,263 (GRCm39) |
N176D |
|
Het |
| Mcf2l |
C |
A |
8: 13,050,812 (GRCm39) |
H356N |
possibly damaging |
Het |
| Mettl4 |
T |
A |
17: 95,042,936 (GRCm39) |
Y300F |
probably damaging |
Het |
| Naaladl2 |
T |
G |
3: 24,467,532 (GRCm39) |
K307N |
possibly damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,832 (GRCm39) |
D70V |
probably damaging |
Het |
| Or2aj4 |
G |
A |
16: 19,385,513 (GRCm39) |
T40I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or6c8b |
C |
T |
10: 128,882,614 (GRCm39) |
G106E |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,814,979 (GRCm39) |
M248L |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,825,491 (GRCm39) |
T300A |
probably benign |
Het |
| Ppa1 |
T |
G |
10: 61,484,562 (GRCm39) |
V19G |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,007,013 (GRCm39) |
Y793C |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,325,357 (GRCm39) |
I177F |
probably benign |
Het |
| Prodh |
C |
A |
16: 17,894,160 (GRCm39) |
G457V |
probably damaging |
Het |
| Prrt3 |
T |
C |
6: 113,475,058 (GRCm39) |
K55E |
probably benign |
Het |
| Prx |
G |
T |
7: 27,217,496 (GRCm39) |
V805L |
probably damaging |
Het |
| Ptk6 |
T |
G |
2: 180,844,146 (GRCm39) |
D51A |
probably damaging |
Het |
| Rec114 |
T |
A |
9: 58,565,041 (GRCm39) |
Q205L |
probably null |
Het |
| Rfwd3 |
T |
G |
8: 112,006,567 (GRCm39) |
K510Q |
possibly damaging |
Het |
| Sdhb |
C |
T |
4: 140,700,250 (GRCm39) |
R117C |
probably benign |
Het |
| Serinc2 |
T |
G |
4: 130,158,220 (GRCm39) |
T21P |
probably benign |
Het |
| Serpinb3a |
A |
C |
1: 106,974,886 (GRCm39) |
F216V |
probably damaging |
Het |
| Sertm1 |
T |
C |
3: 54,806,929 (GRCm39) |
D32G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,035,963 (GRCm39) |
D816G |
probably benign |
Het |
| Sfxn4 |
T |
A |
19: 60,839,494 (GRCm39) |
N188I |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,575,553 (GRCm39) |
D711G |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,621 (GRCm39) |
F392L |
probably damaging |
Het |
| Ssbp1 |
T |
C |
6: 40,454,955 (GRCm39) |
L138P |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,092,588 (GRCm39) |
G96E |
probably damaging |
Het |
| Tmem67 |
G |
A |
4: 12,040,640 (GRCm39) |
Q968* |
probably null |
Het |
| Tnni2 |
T |
C |
7: 141,998,003 (GRCm39) |
S169P |
probably damaging |
Het |
| Tpk1 |
T |
C |
6: 43,446,084 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
A |
4: 43,216,123 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Unc13b |
A |
T |
4: 43,255,551 (GRCm39) |
E1057D |
probably damaging |
Het |
| Usf3 |
G |
T |
16: 44,041,936 (GRCm39) |
G2139C |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,430 (GRCm39) |
Y148* |
probably null |
Het |
| Vmn2r42 |
A |
C |
7: 8,197,758 (GRCm39) |
M287R |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,332 (GRCm39) |
H565L |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,476 (GRCm39) |
M83K |
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 |
|
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 |
|
|
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 |
|
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'- CTGACAAAGGCCAAGGTGTC -3'
(R):5'- GAGAAATTTCACCGTGTTAAGCC -3'
Sequencing Primer
(F):5'- CGTGCTCACACTATCTGGTGATG -3'
(R):5'- AAGCAGCTGCTACTTGGA -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation