Incidental Mutation 'R6990:Tbc1d5'
| ID |
543217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d5
|
| Ensembl Gene |
ENSMUSG00000023923 |
| Gene Name |
TBC1 domain family, member 5 |
| Synonyms |
1600014N05Rik |
| MMRRC Submission |
045096-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6990 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51275260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 78
(N78K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
| AlphaFold |
Q80XQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024717
AA Change: N78K
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: N78K
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
78 |
384 |
5.56e-86 |
SMART |
|
low complexity region
|
475 |
492 |
N/A |
INTRINSIC |
|
SCOP:d1lsha3
|
511 |
546 |
1e-3 |
SMART |
|
low complexity region
|
556 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
802 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224528
AA Change: N78K
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
G |
10: 78,902,925 (GRCm39) |
T464P |
probably damaging |
Het |
| Abca16 |
A |
G |
7: 120,126,950 (GRCm39) |
I1214V |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,833,860 (GRCm39) |
F869S |
probably damaging |
Het |
| Astn2 |
G |
T |
4: 65,910,540 (GRCm39) |
H431N |
possibly damaging |
Het |
| Bap1 |
A |
G |
14: 30,977,608 (GRCm39) |
T308A |
probably benign |
Het |
| Bcr |
G |
A |
10: 74,966,868 (GRCm39) |
E492K |
possibly damaging |
Het |
| Bltp3b |
A |
G |
10: 89,641,979 (GRCm39) |
D1050G |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,229,501 (GRCm39) |
F444L |
probably damaging |
Het |
| Chd7 |
A |
T |
4: 8,844,525 (GRCm39) |
T1545S |
probably benign |
Het |
| Dnmt1 |
A |
T |
9: 20,827,110 (GRCm39) |
Y877* |
probably null |
Het |
| Fam13b |
A |
G |
18: 34,630,500 (GRCm39) |
V86A |
possibly damaging |
Het |
| Gm11562 |
T |
A |
11: 99,510,817 (GRCm39) |
R128W |
unknown |
Het |
| Krt86 |
A |
G |
15: 101,371,714 (GRCm39) |
I95V |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,942,284 (GRCm39) |
T349A |
possibly damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,310,605 (GRCm39) |
L38Q |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,468,221 (GRCm39) |
S339P |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,749,944 (GRCm39) |
I46V |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,792 (GRCm39) |
D416G |
probably benign |
Het |
| Oga |
G |
A |
19: 45,755,915 (GRCm39) |
A576V |
probably benign |
Het |
| Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
| Or4p18 |
A |
G |
2: 88,232,639 (GRCm39) |
M213T |
probably benign |
Het |
| Pde1c |
C |
G |
6: 56,419,020 (GRCm39) |
E87Q |
possibly damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pga5 |
A |
T |
19: 10,646,779 (GRCm39) |
D317E |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,844,067 (GRCm39) |
K568N |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,109,161 (GRCm39) |
D290G |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,596,990 (GRCm39) |
K617E |
probably damaging |
Het |
| Slc7a14 |
G |
A |
3: 31,277,728 (GRCm39) |
P626S |
possibly damaging |
Het |
| Speer4b |
A |
T |
5: 27,702,076 (GRCm39) |
L228* |
probably null |
Het |
| Spns2 |
T |
C |
11: 72,380,447 (GRCm39) |
T59A |
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,788,686 (GRCm39) |
V341A |
probably benign |
Het |
| Trpt1 |
A |
G |
19: 6,975,683 (GRCm39) |
T146A |
probably benign |
Het |
| Tyrp1 |
T |
C |
4: 80,753,674 (GRCm39) |
C122R |
probably damaging |
Het |
| Uchl1 |
A |
G |
5: 66,839,818 (GRCm39) |
E120G |
possibly damaging |
Het |
| Ucn3 |
C |
T |
13: 3,991,295 (GRCm39) |
R119Q |
possibly damaging |
Het |
| Vmn2r2 |
T |
G |
3: 64,024,608 (GRCm39) |
I658L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,082 (GRCm39) |
V444E |
probably benign |
Het |
| Wdr54 |
A |
C |
6: 83,132,629 (GRCm39) |
|
probably null |
Het |
| Xcr1 |
A |
G |
9: 123,685,300 (GRCm39) |
L154P |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,557 (GRCm39) |
K160E |
probably benign |
Het |
| Zfp157 |
T |
G |
5: 138,454,772 (GRCm39) |
Y323* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,801 (GRCm39) |
F136I |
probably benign |
Het |
|
| Other mutations in Tbc1d5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Tbc1d5
|
APN |
17 |
51,120,826 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01370:Tbc1d5
|
APN |
17 |
51,273,755 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01625:Tbc1d5
|
APN |
17 |
51,224,601 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01935:Tbc1d5
|
APN |
17 |
51,270,793 (GRCm39) |
splice site |
probably benign |
|
|
IGL02229:Tbc1d5
|
APN |
17 |
51,159,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02811:Tbc1d5
|
APN |
17 |
51,107,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03192:Tbc1d5
|
APN |
17 |
51,291,709 (GRCm39) |
splice site |
probably benign |
|
|
FR4976:Tbc1d5
|
UTSW |
17 |
51,106,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4976:Tbc1d5
|
UTSW |
17 |
51,106,959 (GRCm39) |
missense |
probably benign |
|
|
IGL02796:Tbc1d5
|
UTSW |
17 |
51,273,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Tbc1d5
|
UTSW |
17 |
51,291,715 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Tbc1d5
|
UTSW |
17 |
51,273,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Tbc1d5
|
UTSW |
17 |
51,063,733 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0481:Tbc1d5
|
UTSW |
17 |
51,226,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1143:Tbc1d5
|
UTSW |
17 |
51,049,087 (GRCm39) |
nonsense |
probably null |
|
|
R1533:Tbc1d5
|
UTSW |
17 |
51,227,603 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1543:Tbc1d5
|
UTSW |
17 |
51,242,560 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2888:Tbc1d5
|
UTSW |
17 |
51,242,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Tbc1d5
|
UTSW |
17 |
51,275,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Tbc1d5
|
UTSW |
17 |
51,107,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Tbc1d5
|
UTSW |
17 |
51,270,772 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4116:Tbc1d5
|
UTSW |
17 |
51,227,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Tbc1d5
|
UTSW |
17 |
51,089,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4456:Tbc1d5
|
UTSW |
17 |
51,089,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4648:Tbc1d5
|
UTSW |
17 |
51,043,251 (GRCm39) |
missense |
probably benign |
|
|
R4711:Tbc1d5
|
UTSW |
17 |
51,242,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4754:Tbc1d5
|
UTSW |
17 |
51,107,193 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5303:Tbc1d5
|
UTSW |
17 |
51,043,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5360:Tbc1d5
|
UTSW |
17 |
51,291,660 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5443:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5444:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5611:Tbc1d5
|
UTSW |
17 |
51,042,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5658:Tbc1d5
|
UTSW |
17 |
51,120,869 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5701:Tbc1d5
|
UTSW |
17 |
51,106,983 (GRCm39) |
small deletion |
probably benign |
|
|
R5921:Tbc1d5
|
UTSW |
17 |
51,270,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Tbc1d5
|
UTSW |
17 |
51,089,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6628:Tbc1d5
|
UTSW |
17 |
51,043,236 (GRCm39) |
missense |
probably benign |
|
|
R6705:Tbc1d5
|
UTSW |
17 |
51,332,203 (GRCm39) |
start gained |
probably benign |
|
|
R7184:Tbc1d5
|
UTSW |
17 |
51,107,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7443:Tbc1d5
|
UTSW |
17 |
51,273,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Tbc1d5
|
UTSW |
17 |
51,224,573 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7696:Tbc1d5
|
UTSW |
17 |
51,181,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Tbc1d5
|
UTSW |
17 |
51,181,711 (GRCm39) |
nonsense |
probably null |
|
|
R7827:Tbc1d5
|
UTSW |
17 |
51,089,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7841:Tbc1d5
|
UTSW |
17 |
51,106,950 (GRCm39) |
small deletion |
probably benign |
|
|
R7861:Tbc1d5
|
UTSW |
17 |
51,063,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7931:Tbc1d5
|
UTSW |
17 |
51,106,892 (GRCm39) |
splice site |
probably benign |
|
|
R8108:Tbc1d5
|
UTSW |
17 |
51,049,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8434:Tbc1d5
|
UTSW |
17 |
51,089,455 (GRCm39) |
splice site |
probably benign |
|
|
R8683:Tbc1d5
|
UTSW |
17 |
51,291,631 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8792:Tbc1d5
|
UTSW |
17 |
51,106,962 (GRCm39) |
small insertion |
probably benign |
|
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,969 (GRCm39) |
small insertion |
probably benign |
|
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,963 (GRCm39) |
small insertion |
probably benign |
|
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,962 (GRCm39) |
small insertion |
probably benign |
|
|
R8799:Tbc1d5
|
UTSW |
17 |
51,106,978 (GRCm39) |
small insertion |
probably benign |
|
|
R8848:Tbc1d5
|
UTSW |
17 |
51,226,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Tbc1d5
|
UTSW |
17 |
51,063,692 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9176:Tbc1d5
|
UTSW |
17 |
51,089,363 (GRCm39) |
missense |
probably benign |
|
|
R9751:Tbc1d5
|
UTSW |
17 |
51,181,680 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1088:Tbc1d5
|
UTSW |
17 |
51,270,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d5
|
UTSW |
17 |
51,273,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTAGGAAAGAGAACCATG -3'
(R):5'- AGCCATTCGTTCAGATACAGAAC -3'
Sequencing Primer
(F):5'- CCATGAATGGCTAAGAAGTTGG -3'
(R):5'- TTCGTTCAGATACAGAACACCAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation