Incidental Mutation 'R3752:Tbc1d30'
| ID |
271264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d30
|
| Ensembl Gene |
ENSMUSG00000052302 |
| Gene Name |
TBC1 domain family, member 30 |
| Synonyms |
4930505D03Rik |
| MMRRC Submission |
040737-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3752 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
121099725-121187183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121108073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 443
(N443I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064107]
|
| AlphaFold |
Q69ZT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064107
AA Change: N443I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: N443I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
TBC
|
84 |
318 |
2.22e-30 |
SMART |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
Pfam:DUF4682
|
475 |
613 |
4.3e-50 |
PFAM |
|
low complexity region
|
623 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
657 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218111
|
| Meta Mutation Damage Score |
0.6004 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,588,904 (GRCm39) |
I107N |
probably damaging |
Het |
| Adh1 |
G |
A |
3: 137,994,555 (GRCm39) |
V292I |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep170 |
A |
G |
1: 176,610,061 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,458,215 (GRCm39) |
P1120S |
probably damaging |
Het |
| Cramp1 |
A |
T |
17: 25,190,532 (GRCm39) |
N1067K |
probably damaging |
Het |
| Dhrs7c |
A |
G |
11: 67,702,281 (GRCm39) |
T90A |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Eml6 |
C |
A |
11: 29,759,360 (GRCm39) |
V798F |
probably benign |
Het |
| Ext1 |
A |
T |
15: 52,939,306 (GRCm39) |
V581E |
probably damaging |
Het |
| Fbf1 |
C |
T |
11: 116,038,622 (GRCm39) |
R833Q |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Gm10521 |
A |
G |
1: 171,723,712 (GRCm39) |
T8A |
unknown |
Het |
| Hapln4 |
A |
T |
8: 70,539,615 (GRCm39) |
L215F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,799,624 (GRCm39) |
I157V |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,640,086 (GRCm39) |
C1700S |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,829,015 (GRCm39) |
C2042Y |
probably damaging |
Het |
| Lrrc9 |
T |
G |
12: 72,507,580 (GRCm39) |
Y360* |
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,156,821 (GRCm39) |
A76V |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,970,383 (GRCm39) |
T428M |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nobox |
T |
G |
6: 43,284,167 (GRCm39) |
K126N |
probably damaging |
Het |
| Ogn |
C |
T |
13: 49,776,307 (GRCm39) |
L249F |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,406,057 (GRCm39) |
I210V |
probably benign |
Het |
| Or6a2 |
A |
T |
7: 106,600,682 (GRCm39) |
Y128* |
probably null |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,810 (GRCm39) |
V14E |
probably damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,403 (GRCm39) |
I316L |
probably benign |
Het |
| Plxnb2 |
G |
A |
15: 89,041,458 (GRCm39) |
|
probably benign |
Het |
| Rab3il1 |
A |
T |
19: 10,007,841 (GRCm39) |
T227S |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,461,121 (GRCm39) |
Y477F |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,263,551 (GRCm39) |
V722E |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,067,959 (GRCm39) |
V565A |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,700,096 (GRCm39) |
|
probably benign |
Het |
| Slc47a1 |
C |
T |
11: 61,235,207 (GRCm39) |
R542Q |
possibly damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,586,062 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
C |
A |
2: 167,299,272 (GRCm39) |
H215N |
probably benign |
Het |
| Slit1 |
C |
T |
19: 41,635,406 (GRCm39) |
|
probably null |
Het |
| Snx1 |
A |
T |
9: 66,012,933 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
A |
8: 34,061,443 (GRCm39) |
M565K |
probably benign |
Het |
| Traf3ip1 |
T |
C |
1: 91,428,639 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,215,731 (GRCm39) |
E243K |
probably damaging |
Het |
| Vps35 |
A |
G |
8: 86,001,460 (GRCm39) |
S453P |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,249 (GRCm39) |
V766A |
probably benign |
Het |
|
| Other mutations in Tbc1d30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Tbc1d30
|
APN |
10 |
121,102,729 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00837:Tbc1d30
|
APN |
10 |
121,132,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01081:Tbc1d30
|
APN |
10 |
121,103,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:Tbc1d30
|
APN |
10 |
121,102,956 (GRCm39) |
missense |
probably benign |
|
|
IGL01844:Tbc1d30
|
APN |
10 |
121,103,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1782:Tbc1d30
|
UTSW |
10 |
121,103,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Tbc1d30
|
UTSW |
10 |
121,142,135 (GRCm39) |
splice site |
probably null |
|
|
R2025:Tbc1d30
|
UTSW |
10 |
121,115,051 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2197:Tbc1d30
|
UTSW |
10 |
121,140,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4374:Tbc1d30
|
UTSW |
10 |
121,130,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Tbc1d30
|
UTSW |
10 |
121,115,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4624:Tbc1d30
|
UTSW |
10 |
121,132,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4960:Tbc1d30
|
UTSW |
10 |
121,103,121 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5170:Tbc1d30
|
UTSW |
10 |
121,142,743 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5566:Tbc1d30
|
UTSW |
10 |
121,138,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Tbc1d30
|
UTSW |
10 |
121,132,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Tbc1d30
|
UTSW |
10 |
121,103,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6051:Tbc1d30
|
UTSW |
10 |
121,132,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Tbc1d30
|
UTSW |
10 |
121,130,630 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7106:Tbc1d30
|
UTSW |
10 |
121,137,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7233:Tbc1d30
|
UTSW |
10 |
121,107,962 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7256:Tbc1d30
|
UTSW |
10 |
121,124,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Tbc1d30
|
UTSW |
10 |
121,132,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Tbc1d30
|
UTSW |
10 |
121,183,061 (GRCm39) |
nonsense |
probably null |
|
|
R7958:Tbc1d30
|
UTSW |
10 |
121,107,962 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7978:Tbc1d30
|
UTSW |
10 |
121,142,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Tbc1d30
|
UTSW |
10 |
121,103,448 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8394:Tbc1d30
|
UTSW |
10 |
121,183,013 (GRCm39) |
nonsense |
probably null |
|
|
R8472:Tbc1d30
|
UTSW |
10 |
121,187,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8532:Tbc1d30
|
UTSW |
10 |
121,103,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Tbc1d30
|
UTSW |
10 |
121,187,059 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9124:Tbc1d30
|
UTSW |
10 |
121,132,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9186:Tbc1d30
|
UTSW |
10 |
121,111,639 (GRCm39) |
missense |
probably benign |
|
|
R9282:Tbc1d30
|
UTSW |
10 |
121,142,128 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9342:Tbc1d30
|
UTSW |
10 |
121,103,366 (GRCm39) |
nonsense |
probably null |
|
|
R9531:Tbc1d30
|
UTSW |
10 |
121,183,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Tbc1d30
|
UTSW |
10 |
121,102,886 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9799:Tbc1d30
|
UTSW |
10 |
121,142,074 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9803:Tbc1d30
|
UTSW |
10 |
121,107,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tbc1d30
|
UTSW |
10 |
121,138,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d30
|
UTSW |
10 |
121,186,969 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACACTAATGGAAGCATCCC -3'
(R):5'- ACAGGCTCACTAGGGAATGC -3'
Sequencing Primer
(F):5'- TAATGGAAGCATCCCCTTACCTG -3'
(R):5'- CTCACTAGGGAATGCAGAAGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation