Incidental Mutation 'R8394:Tbc1d30'
| ID |
647534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d30
|
| Ensembl Gene |
ENSMUSG00000052302 |
| Gene Name |
TBC1 domain family, member 30 |
| Synonyms |
4930505D03Rik |
| MMRRC Submission |
067758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
121099725-121187183 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 121183013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 142
(R142*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000219179]
|
| AlphaFold |
Q69ZT9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000219179
AA Change: R142*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
C |
14: 59,379,623 (GRCm39) |
N137S |
probably benign |
Het |
| 4930505A04Rik |
T |
A |
11: 30,404,880 (GRCm39) |
|
probably null |
Het |
| Abcc8 |
A |
G |
7: 45,803,977 (GRCm39) |
I399T |
probably benign |
Het |
| Aldh3b2 |
A |
C |
19: 4,029,461 (GRCm39) |
Q278P |
probably benign |
Het |
| Arl8b |
A |
G |
6: 108,760,244 (GRCm39) |
D10G |
possibly damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,096 (GRCm39) |
N229S |
probably benign |
Het |
| Chrdl2 |
T |
C |
7: 99,666,292 (GRCm39) |
S71P |
possibly damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,541 (GRCm39) |
M142V |
possibly damaging |
Het |
| Cpt1b |
A |
G |
15: 89,306,490 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
T |
C |
16: 59,378,651 (GRCm39) |
K868E |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,411,986 (GRCm39) |
I792V |
probably benign |
Het |
| Evx2 |
A |
G |
2: 74,486,321 (GRCm39) |
L356S |
probably benign |
Het |
| Hspa14 |
C |
T |
2: 3,513,670 (GRCm39) |
|
probably null |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Il7r |
A |
G |
15: 9,516,504 (GRCm39) |
F99S |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,222,273 (GRCm39) |
V6D |
possibly damaging |
Het |
| Lce3c |
T |
C |
3: 92,852,760 (GRCm39) |
S74P |
unknown |
Het |
| Nectin2 |
C |
T |
7: 19,467,137 (GRCm39) |
|
probably null |
Het |
| Nfil3 |
A |
G |
13: 53,121,849 (GRCm39) |
S352P |
probably benign |
Het |
| Nme6 |
T |
A |
9: 109,664,394 (GRCm39) |
M1K |
probably null |
Het |
| Or52z13 |
A |
T |
7: 103,247,404 (GRCm39) |
I294F |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,722,326 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,159,710 (GRCm39) |
V391A |
probably damaging |
Het |
| Ptf1a |
T |
A |
2: 19,450,746 (GRCm39) |
D25E |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
| Scube1 |
T |
C |
15: 83,492,492 (GRCm39) |
Y944C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,729,542 (GRCm39) |
I1039T |
probably benign |
Het |
| Senp7 |
G |
T |
16: 55,990,190 (GRCm39) |
W646L |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,253,797 (GRCm39) |
N1317K |
probably benign |
Het |
| Strc |
G |
T |
2: 121,209,490 (GRCm39) |
Q278K |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,282,808 (GRCm39) |
I916V |
probably damaging |
Het |
| Tomm40l |
A |
T |
1: 171,048,776 (GRCm39) |
H79Q |
probably damaging |
Het |
| Txndc12 |
T |
A |
4: 108,713,420 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,858 (GRCm39) |
N96S |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,168,776 (GRCm39) |
T785A |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,862 (GRCm39) |
D1276G |
probably damaging |
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 |
|
R3752:Tbc1d30
|
UTSW |
10 |
121,108,073 (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 |
|
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'- TTACCCTTAGACATCAGGCATTC -3'
(R):5'- CCTACACCTTTTGACTAGCAGC -3'
Sequencing Primer
(F):5'- CAGTGCAAAGCAGTACCT -3'
(R):5'- GCAGCACACTCGGGATTTATATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation