Incidental Mutation 'R1181:Tbc1d7'
| ID |
101605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d7
|
| Ensembl Gene |
ENSMUSG00000021368 |
| Gene Name |
TBC1 domain family, member 7 |
| Synonyms |
2610009C09Rik |
| MMRRC Submission |
039253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R1181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
43305216-43324977 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43306615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 242
(I242M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021797]
[ENSMUST00000179852]
[ENSMUST00000220787]
[ENSMUST00000221352]
[ENSMUST00000221795]
[ENSMUST00000222160]
[ENSMUST00000223000]
|
| AlphaFold |
Q9D0K0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021797
AA Change: I242M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021797
Gene: ENSMUSG00000021368
AA Change: I242M
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fkma1
|
24 |
90 |
5e-3 |
SMART |
|
Pfam:RabGAP-TBC
|
133 |
251 |
2.6e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179852
AA Change: I242M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137280
Gene: ENSMUSG00000021368
AA Change: I242M
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fkma1
|
24 |
90 |
5e-3 |
SMART |
|
Pfam:RabGAP-TBC
|
133 |
251 |
5.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220579
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221352
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221795
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222160
AA Change: I242M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223000
AA Change: I120M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223076
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.9%
- 10x: 93.9%
- 20x: 84.2%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
A |
19: 4,922,638 (GRCm39) |
Q64L |
probably benign |
Het |
| Ankrd12 |
T |
C |
17: 66,349,569 (GRCm39) |
N88S |
probably benign |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Bnipl |
C |
A |
3: 95,152,960 (GRCm39) |
|
probably null |
Het |
| Bod1 |
T |
C |
11: 31,616,943 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,971,328 (GRCm39) |
H166N |
probably damaging |
Het |
| Cdr2l |
T |
A |
11: 115,285,005 (GRCm39) |
I447N |
probably damaging |
Het |
| Cped1 |
T |
G |
6: 22,215,561 (GRCm39) |
I698M |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,642,662 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,012,831 (GRCm39) |
V902I |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Fastk |
C |
T |
5: 24,646,729 (GRCm39) |
|
probably null |
Het |
| Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
| Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
| Hgf |
G |
C |
5: 16,823,923 (GRCm39) |
G707R |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,228 (GRCm39) |
M594T |
probably damaging |
Het |
| Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
| Mettl14 |
C |
T |
3: 123,167,651 (GRCm39) |
G236S |
probably damaging |
Het |
| Nob1 |
G |
A |
8: 108,148,122 (GRCm39) |
P107S |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
T |
A |
6: 42,932,492 (GRCm39) |
L20Q |
probably benign |
Het |
| Or52e7 |
T |
A |
7: 104,685,021 (GRCm39) |
N205K |
probably damaging |
Het |
| Or52n4b |
C |
A |
7: 108,144,509 (GRCm39) |
T257N |
probably benign |
Het |
| Or5b109 |
C |
A |
19: 13,212,195 (GRCm39) |
H194N |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Or6c65 |
A |
G |
10: 129,604,033 (GRCm39) |
I223V |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,183,366 (GRCm39) |
|
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,784,545 (GRCm39) |
|
probably null |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Serinc3 |
T |
C |
2: 163,467,446 (GRCm39) |
K445R |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,907,571 (GRCm39) |
E324G |
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Tas2r121 |
A |
T |
6: 132,677,132 (GRCm39) |
I280N |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
| Trim66 |
C |
T |
7: 109,083,784 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,302,915 (GRCm39) |
H301Q |
possibly damaging |
Het |
| Ubqln5 |
T |
A |
7: 103,777,948 (GRCm39) |
Q292L |
probably damaging |
Het |
| Zfp454 |
T |
C |
11: 50,764,413 (GRCm39) |
K229E |
probably damaging |
Het |
|
| Other mutations in Tbc1d7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Tbc1d7
|
APN |
13 |
43,312,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01460:Tbc1d7
|
APN |
13 |
43,318,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02653:Tbc1d7
|
APN |
13 |
43,318,874 (GRCm39) |
missense |
probably benign |
|
|
IGL03046:Tbc1d7
|
APN |
13 |
43,308,162 (GRCm39) |
splice site |
probably null |
|
|
R0165:Tbc1d7
|
UTSW |
13 |
43,306,678 (GRCm39) |
splice site |
probably null |
|
|
R0427:Tbc1d7
|
UTSW |
13 |
43,306,563 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0863:Tbc1d7
|
UTSW |
13 |
43,308,161 (GRCm39) |
splice site |
probably benign |
|
|
R0930:Tbc1d7
|
UTSW |
13 |
43,318,812 (GRCm39) |
nonsense |
probably null |
|
|
R1792:Tbc1d7
|
UTSW |
13 |
43,318,853 (GRCm39) |
missense |
probably benign |
|
|
R2113:Tbc1d7
|
UTSW |
13 |
43,306,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4354:Tbc1d7
|
UTSW |
13 |
43,323,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Tbc1d7
|
UTSW |
13 |
43,323,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Tbc1d7
|
UTSW |
13 |
43,308,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6049:Tbc1d7
|
UTSW |
13 |
43,312,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6320:Tbc1d7
|
UTSW |
13 |
43,306,409 (GRCm39) |
unclassified |
probably benign |
|
|
R7024:Tbc1d7
|
UTSW |
13 |
43,308,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Tbc1d7
|
UTSW |
13 |
43,306,493 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8263:Tbc1d7
|
UTSW |
13 |
43,323,340 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9013:Tbc1d7
|
UTSW |
13 |
43,322,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGTTCCACTCCCAGGAGGCAC -3'
(R):5'- TTCACAGTCGTTCTCTGAAGCATGG -3'
Sequencing Primer
(F):5'- ggcaggaggattaccaaaaac -3'
(R):5'- CTCTGAAGCATGGACTTAAAATGAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation