Incidental Mutation 'R0528:Tbc1d9'
| ID |
48997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d9
|
| Ensembl Gene |
ENSMUSG00000031709 |
| Gene Name |
TBC1 domain family, member 9 |
| Synonyms |
C76116, 4933431N12Rik |
| MMRRC Submission |
038720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R0528 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
83891981-83999563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83937085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 56
(S56P)
|
| 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: S56P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: S56P
| 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: S56P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: S56P
| 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 |
|
| Meta Mutation Damage Score |
0.1366 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,838,848 (GRCm39) |
W674G |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,638,606 (GRCm39) |
H103Y |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,323,224 (GRCm39) |
N495S |
probably null |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,965 (GRCm39) |
D324E |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,584 (GRCm39) |
N488D |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,563,119 (GRCm39) |
|
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,796 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,767,083 (GRCm39) |
R866G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,688,234 (GRCm39) |
|
probably benign |
Het |
| Clec4f |
G |
A |
6: 83,629,776 (GRCm39) |
Q261* |
probably null |
Het |
| Cpne4 |
A |
T |
9: 104,563,640 (GRCm39) |
N6Y |
probably damaging |
Het |
| Dhx38 |
G |
T |
8: 110,289,293 (GRCm39) |
Q36K |
probably benign |
Het |
| Dna2 |
C |
A |
10: 62,793,910 (GRCm39) |
Q341K |
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,165 (GRCm39) |
|
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,973,809 (GRCm39) |
V408A |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,122 (GRCm39) |
I203N |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,134,511 (GRCm39) |
L1495Q |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,830,019 (GRCm39) |
D688G |
probably damaging |
Het |
| Hcfc2 |
C |
A |
10: 82,575,079 (GRCm39) |
T246K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,458,152 (GRCm39) |
E57K |
probably benign |
Het |
| Iqsec3 |
G |
C |
6: 121,389,743 (GRCm39) |
|
probably benign |
Het |
| Islr2 |
T |
A |
9: 58,106,645 (GRCm39) |
E205V |
probably damaging |
Het |
| Klf9 |
T |
C |
19: 23,119,498 (GRCm39) |
L127P |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 152,999,840 (GRCm39) |
L1173Q |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,097,901 (GRCm39) |
T14I |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,751,394 (GRCm39) |
|
probably benign |
Het |
| Lrrc15 |
A |
G |
16: 30,092,566 (GRCm39) |
S258P |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,410,780 (GRCm39) |
Y516F |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,343,630 (GRCm39) |
T718A |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,862,612 (GRCm39) |
L1439P |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,111,445 (GRCm39) |
D1628G |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,162 (GRCm39) |
T1398I |
probably benign |
Het |
| Or1f12 |
A |
G |
13: 21,721,416 (GRCm39) |
F238S |
possibly damaging |
Het |
| Or2a54 |
A |
T |
6: 43,093,150 (GRCm39) |
H158L |
possibly damaging |
Het |
| Padi4 |
A |
G |
4: 140,496,740 (GRCm39) |
V52A |
possibly damaging |
Het |
| Paqr5 |
G |
A |
9: 61,863,527 (GRCm39) |
T251I |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,768,967 (GRCm39) |
D1611G |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,276,445 (GRCm39) |
R358K |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,526,587 (GRCm39) |
H325Q |
probably damaging |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,657 (GRCm39) |
H543R |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,795,228 (GRCm39) |
N1076I |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,088 (GRCm39) |
L2008P |
possibly damaging |
Het |
| Rsph3a |
A |
G |
17: 8,164,919 (GRCm39) |
H93R |
possibly damaging |
Het |
| Sbf1 |
C |
T |
15: 89,172,915 (GRCm39) |
R1840H |
probably damaging |
Het |
| Skic8 |
T |
A |
9: 54,630,219 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,561,346 (GRCm39) |
M1304L |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,819,753 (GRCm39) |
R9S |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,348,505 (GRCm39) |
I39N |
probably benign |
Het |
| Tnrc6b |
T |
C |
15: 80,763,604 (GRCm39) |
S369P |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,887,372 (GRCm39) |
V217A |
probably benign |
Het |
| Uckl1 |
G |
C |
2: 181,212,283 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,566,736 (GRCm39) |
Q10L |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,506 (GRCm39) |
S265P |
possibly damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,662 (GRCm39) |
L377Q |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,229,776 (GRCm39) |
D49G |
probably damaging |
Het |
| Zfp764 |
T |
A |
7: 127,004,051 (GRCm39) |
Q360L |
possibly damaging |
Het |
| Zfp846 |
G |
A |
9: 20,499,224 (GRCm39) |
|
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,240,096 (GRCm39) |
I14T |
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 |
|
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 |
|
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'- GCCCGAGTCCTGTAAGATGAAAGC -3'
(R):5'- TGGGTAAGCACATCTACACCTCTCC -3'
Sequencing Primer
(F):5'- TCCTGTAAGATGAAAGCTTAGGGG -3'
(R):5'- CCACAGGCAATGGTCCAATA -3'
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| Posted On |
2013-06-12 |
Incidental Mutation