Incidental Mutation 'R8995:Tbc1d9'
ID |
684671 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d9
|
Ensembl Gene |
ENSMUSG00000031709 |
Gene Name |
TBC1 domain family, member 9 |
Synonyms |
C76116, 4933431N12Rik |
MMRRC Submission |
068826-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R8995 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83998180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1246
(M1246L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034145]
[ENSMUST00000093393]
|
AlphaFold |
Q3UYK3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000034145
AA Change: M1013L
|
SMART Domains |
Protein: ENSMUSP00000034145 Gene: ENSMUSG00000031709 AA Change: M1013L
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: M1246L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091093 Gene: ENSMUSG00000031709 AA Change: M1246L
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: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
A |
G |
8: 122,257,764 (GRCm39) |
*214R |
probably null |
Het |
Acd |
A |
G |
8: 106,427,131 (GRCm39) |
L93P |
probably damaging |
Het |
Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
Aldh1b1 |
T |
A |
4: 45,803,413 (GRCm39) |
M317K |
possibly damaging |
Het |
Arfgap2 |
C |
A |
2: 91,103,929 (GRCm39) |
Q342K |
probably damaging |
Het |
Arhgef16 |
C |
T |
4: 154,371,495 (GRCm39) |
E233K |
probably damaging |
Het |
Asxl1 |
C |
T |
2: 153,235,886 (GRCm39) |
R323C |
probably damaging |
Het |
Bank1 |
G |
T |
3: 135,772,264 (GRCm39) |
D656E |
possibly damaging |
Het |
Bdh2 |
A |
G |
3: 135,000,989 (GRCm39) |
M120V |
probably damaging |
Het |
Bend7 |
A |
G |
2: 4,749,103 (GRCm39) |
I73M |
probably damaging |
Het |
Cd207 |
C |
A |
6: 83,652,891 (GRCm39) |
D80Y |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,398,093 (GRCm39) |
T937A |
probably damaging |
Het |
Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
Csnk2a1-ps3 |
T |
A |
1: 156,352,873 (GRCm39) |
V358E |
probably benign |
Het |
Ddx50 |
A |
G |
10: 62,469,862 (GRCm39) |
I375T |
probably damaging |
Het |
Dhrs1 |
T |
A |
14: 55,977,396 (GRCm39) |
T241S |
probably benign |
Het |
Eef1b2 |
T |
C |
1: 63,217,629 (GRCm39) |
Y79H |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,049,315 (GRCm39) |
C84R |
probably benign |
Het |
Exo1 |
A |
G |
1: 175,736,127 (GRCm39) |
H837R |
probably benign |
Het |
Fat3 |
T |
C |
9: 16,286,898 (GRCm39) |
N875S |
probably damaging |
Het |
Flvcr1 |
A |
T |
1: 190,743,817 (GRCm39) |
L413Q |
probably damaging |
Het |
Fras1 |
G |
T |
5: 96,860,415 (GRCm39) |
V2154F |
possibly damaging |
Het |
Golm2 |
A |
C |
2: 121,756,199 (GRCm39) |
E409D |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,392,422 (GRCm39) |
V229M |
possibly damaging |
Het |
Ifitm6 |
A |
T |
7: 140,596,617 (GRCm39) |
V52E |
probably damaging |
Het |
Igkv4-58 |
A |
G |
6: 69,477,511 (GRCm39) |
S29P |
probably damaging |
Het |
Klc1 |
G |
A |
12: 111,743,344 (GRCm39) |
A224T |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,902,990 (GRCm39) |
S1564P |
probably benign |
Het |
Krt25 |
T |
C |
11: 99,207,382 (GRCm39) |
D399G |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,207,993 (GRCm39) |
Q98R |
probably benign |
Het |
Lpar1 |
T |
A |
4: 58,486,954 (GRCm39) |
M106L |
probably damaging |
Het |
Mpc1 |
A |
G |
17: 8,502,784 (GRCm39) |
Y21C |
probably benign |
Het |
Msr1 |
T |
A |
8: 40,042,460 (GRCm39) |
I372F |
possibly damaging |
Het |
Ndc80 |
T |
C |
17: 71,815,598 (GRCm39) |
N396D |
probably benign |
Het |
Nphp4 |
G |
A |
4: 152,623,345 (GRCm39) |
R673H |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,131,169 (GRCm39) |
F178S |
probably damaging |
Het |
Or1p1b |
A |
T |
11: 74,130,620 (GRCm39) |
T77S |
probably benign |
Het |
Or8g54 |
T |
C |
9: 39,707,313 (GRCm39) |
I214T |
possibly damaging |
Het |
Pcdhgb7 |
T |
A |
18: 37,885,230 (GRCm39) |
F133L |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,244,746 (GRCm39) |
|
probably null |
Het |
Pld5 |
A |
T |
1: 175,791,580 (GRCm39) |
D475E |
probably benign |
Het |
Potefam3f |
A |
T |
8: 20,479,025 (GRCm39) |
H11L |
|
Het |
Prop1 |
G |
A |
11: 50,841,887 (GRCm39) |
P173L |
possibly damaging |
Het |
Rabepk |
G |
A |
2: 34,689,842 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
G |
5: 22,184,577 (GRCm39) |
I1646T |
probably benign |
Het |
Rexo1 |
A |
T |
10: 80,386,095 (GRCm39) |
L321Q |
probably damaging |
Het |
Rfx3 |
T |
A |
19: 27,783,725 (GRCm39) |
E382V |
probably benign |
Het |
Rnf20 |
C |
T |
4: 49,648,437 (GRCm39) |
T415I |
possibly damaging |
Het |
Rpl10-ps3 |
T |
A |
9: 50,256,078 (GRCm39) |
D55V |
probably benign |
Het |
Sag |
A |
G |
1: 87,733,052 (GRCm39) |
T7A |
probably benign |
Het |
Saysd1 |
G |
A |
14: 20,133,005 (GRCm39) |
R51C |
probably damaging |
Het |
Shprh |
T |
A |
10: 11,040,574 (GRCm39) |
Y682* |
probably null |
Het |
Slc6a13 |
T |
C |
6: 121,302,012 (GRCm39) |
I198T |
probably damaging |
Het |
Slx9 |
G |
A |
10: 77,333,303 (GRCm39) |
R121* |
probably null |
Het |
Smyd5 |
C |
A |
6: 85,415,829 (GRCm39) |
C101* |
probably null |
Het |
Spata31d1d |
A |
G |
13: 59,874,421 (GRCm39) |
V1038A |
probably benign |
Het |
Stat6 |
T |
C |
10: 127,494,511 (GRCm39) |
S692P |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,025,894 (GRCm39) |
|
probably null |
Het |
Trim12a |
A |
T |
7: 103,953,532 (GRCm39) |
M193K |
probably benign |
Het |
Ube2t |
T |
A |
1: 134,899,658 (GRCm39) |
L102H |
probably damaging |
Het |
Ubr1 |
G |
A |
2: 120,697,034 (GRCm39) |
R1623W |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,176,850 (GRCm39) |
M1338R |
probably damaging |
Het |
Usp36 |
A |
T |
11: 118,175,825 (GRCm39) |
L112Q |
probably damaging |
Het |
Vmn1r53 |
A |
G |
6: 90,200,757 (GRCm39) |
M189T |
probably benign |
Het |
Vmn1r54 |
T |
C |
6: 90,246,668 (GRCm39) |
V194A |
probably benign |
Het |
Vmn2r33 |
A |
G |
7: 7,554,192 (GRCm39) |
V787A |
probably damaging |
Het |
Vps26a |
A |
G |
10: 62,300,458 (GRCm39) |
I236T |
probably damaging |
Het |
Vwde |
A |
T |
6: 13,195,996 (GRCm39) |
L343Q |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,205,369 (GRCm39) |
V1032A |
probably damaging |
Het |
Zan |
A |
G |
5: 137,393,882 (GRCm39) |
F4523S |
unknown |
Het |
Zfand5 |
T |
A |
19: 21,254,387 (GRCm39) |
V66E |
probably benign |
Het |
Zfp658 |
T |
A |
7: 43,222,798 (GRCm39) |
C358S |
possibly damaging |
Het |
Zfp977 |
T |
A |
7: 42,232,072 (GRCm39) |
R64W |
probably damaging |
Het |
Zfp995 |
C |
T |
17: 22,099,172 (GRCm39) |
S354N |
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 |
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'- GCACTGTGAGGACATTGGAG -3'
(R):5'- TAGGCAGACTGTTAGTGCCTTAC -3'
Sequencing Primer
(F):5'- ACACAGTCCTGGTGCGTAG -3'
(R):5'- CAGACTGTTAGTGCCTTACTTTGG -3'
|
Posted On |
2021-10-11 |