Incidental Mutation 'R7138:Tbc1d9'
| ID |
553200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
045249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R7138 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83937113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 65
(I65T)
|
| 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: I65T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: I65T
| 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: I65T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: I65T
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,899,113 (GRCm39) |
C698* |
probably null |
Het |
| Acacb |
G |
A |
5: 114,345,387 (GRCm39) |
V947M |
probably benign |
Het |
| Acadsb |
T |
G |
7: 131,042,968 (GRCm39) |
L343R |
probably damaging |
Het |
| Adgrf2 |
C |
T |
17: 43,021,874 (GRCm39) |
E317K |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,154 (GRCm39) |
T663A |
unknown |
Het |
| Akap8 |
A |
T |
17: 32,535,515 (GRCm39) |
F166L |
possibly damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,390,836 (GRCm39) |
M2278K |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,242 (GRCm39) |
S148P |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,933,835 (GRCm39) |
E266G |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,581,187 (GRCm39) |
K380E |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,227,544 (GRCm39) |
D542G |
possibly damaging |
Het |
| Cbln4 |
C |
A |
2: 171,884,095 (GRCm39) |
D42Y |
probably damaging |
Het |
| Ccn6 |
T |
A |
10: 39,034,473 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Cd5 |
C |
T |
19: 10,697,668 (GRCm39) |
R437Q |
probably damaging |
Het |
| Ceacam18 |
G |
C |
7: 43,288,706 (GRCm39) |
E152D |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,451,955 (GRCm39) |
S1347P |
possibly damaging |
Het |
| Chodl |
T |
G |
16: 78,738,335 (GRCm39) |
I101R |
probably damaging |
Het |
| Clk4 |
T |
G |
11: 51,168,759 (GRCm39) |
F377L |
probably damaging |
Het |
| Cntnap3 |
C |
T |
13: 64,929,539 (GRCm39) |
|
probably null |
Het |
| Dab2 |
A |
G |
15: 6,458,780 (GRCm39) |
S231G |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,617,361 (GRCm39) |
H118Q |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,900,009 (GRCm39) |
F3869S |
probably damaging |
Het |
| Edil3 |
C |
T |
13: 89,279,847 (GRCm39) |
T175I |
probably damaging |
Het |
| Eif1ad18 |
T |
G |
12: 88,050,648 (GRCm39) |
I61R |
probably damaging |
Het |
| Fap |
A |
G |
2: 62,372,522 (GRCm39) |
S319P |
probably benign |
Het |
| Frmpd2 |
T |
A |
14: 33,293,761 (GRCm39) |
V1309E |
probably benign |
Het |
| Galntl5 |
T |
A |
5: 25,394,842 (GRCm39) |
S70T |
probably benign |
Het |
| Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
| Gna15 |
G |
A |
10: 81,343,881 (GRCm39) |
T260M |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,705,342 (GRCm39) |
I531T |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,417 (GRCm39) |
V238A |
probably damaging |
Het |
| Htr2a |
A |
G |
14: 74,943,182 (GRCm39) |
Y254C |
probably damaging |
Het |
| Inpp5b |
A |
G |
4: 124,679,065 (GRCm39) |
R491G |
probably damaging |
Het |
| Kcnt2 |
C |
T |
1: 140,523,778 (GRCm39) |
L1093F |
possibly damaging |
Het |
| Kcp |
C |
A |
6: 29,491,861 (GRCm39) |
E922* |
probably null |
Het |
| Lrp2 |
G |
A |
2: 69,296,089 (GRCm39) |
A3340V |
possibly damaging |
Het |
| Lrrn1 |
T |
G |
6: 107,545,336 (GRCm39) |
V378G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Net1 |
G |
A |
13: 3,938,510 (GRCm39) |
R126C |
probably damaging |
Het |
| Nipsnap3a |
T |
C |
4: 52,993,978 (GRCm39) |
C20R |
probably benign |
Het |
| Nxpe2 |
C |
T |
9: 48,232,006 (GRCm39) |
C317Y |
probably damaging |
Het |
| Or10v9 |
T |
A |
19: 11,832,652 (GRCm39) |
I222F |
probably damaging |
Het |
| Or52h1 |
T |
C |
7: 103,829,504 (GRCm39) |
Y37C |
probably damaging |
Het |
| Or8b8 |
T |
C |
9: 37,809,360 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g54 |
T |
G |
9: 39,707,086 (GRCm39) |
Y138* |
probably null |
Het |
| Orm1 |
T |
A |
4: 63,262,949 (GRCm39) |
W39R |
probably damaging |
Het |
| Pds5b |
A |
T |
5: 150,724,142 (GRCm39) |
K1240* |
probably null |
Het |
| Pdss1 |
T |
A |
2: 22,802,681 (GRCm39) |
H173Q |
probably damaging |
Het |
| Pebp1 |
A |
G |
5: 117,423,882 (GRCm39) |
W84R |
probably damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,001,759 (GRCm39) |
C630Y |
probably damaging |
Het |
| Plaat3 |
T |
A |
19: 7,556,550 (GRCm39) |
V117E |
probably damaging |
Het |
| Plekho2 |
G |
T |
9: 65,463,635 (GRCm39) |
Q405K |
probably benign |
Het |
| Plppr2 |
T |
A |
9: 21,855,708 (GRCm39) |
V227E |
probably damaging |
Het |
| Pphln1-ps1 |
T |
A |
16: 13,495,589 (GRCm39) |
D229E |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,028,707 (GRCm39) |
S393P |
probably damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,737,900 (GRCm39) |
|
probably null |
Het |
| Ripk3 |
C |
A |
14: 56,025,803 (GRCm39) |
R19L |
probably benign |
Het |
| Rnase10 |
G |
T |
14: 51,247,167 (GRCm39) |
V182F |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,319,002 (GRCm39) |
S917R |
|
Het |
| Sephs2 |
T |
C |
7: 126,872,187 (GRCm39) |
N302S |
possibly damaging |
Het |
| Slc13a2 |
C |
T |
11: 78,289,950 (GRCm39) |
V455M |
possibly damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,071,429 (GRCm39) |
D54V |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,047,706 (GRCm39) |
E199G |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,436,247 (GRCm39) |
M256K |
probably benign |
Het |
| Spag4 |
T |
A |
2: 155,908,519 (GRCm39) |
S150T |
probably benign |
Het |
| Spon1 |
T |
A |
7: 113,635,945 (GRCm39) |
C720S |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,123,356 (GRCm39) |
S166P |
probably benign |
Het |
| Tmem176a |
T |
A |
6: 48,820,953 (GRCm39) |
V141D |
probably damaging |
Het |
| Tmem268 |
G |
A |
4: 63,480,687 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,518,976 (GRCm39) |
V519A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,612,376 (GRCm39) |
P17204S |
possibly damaging |
Het |
| Wrap53 |
T |
A |
11: 69,454,694 (GRCm39) |
D225V |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,477,107 (GRCm39) |
A3241T |
possibly damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,097,372 (GRCm39) |
H47R |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,898,697 (GRCm39) |
R76G |
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 |
|
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 |
|
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'- ATGAAAGCTTAGGGGCCCAG -3'
(R):5'- TGCTAAAGTGACCAAGGTTCATTAC -3'
Sequencing Primer
(F):5'- CCTGACAAAGGCCAAGGTGTC -3'
(R):5'- GCAGCTGCTACTTGGAAT -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation