Incidental Mutation 'R8799:Tbc1d5'
| ID |
671468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d5
|
| Ensembl Gene |
ENSMUSG00000023923 |
| Gene Name |
TBC1 domain family, member 5 |
| Synonyms |
1600014N05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8799 (G1)
|
| Quality Score |
112.467 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
TGC to TGCCGC
at 51106969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
| AlphaFold |
Q80XQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024717
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
T |
A |
11: 83,331,578 (GRCm39) |
C134S |
probably damaging |
Het |
| Acox3 |
T |
G |
5: 35,747,052 (GRCm39) |
F156L |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,474 (GRCm39) |
E1428G |
probably benign |
Het |
| Arhgap40 |
A |
T |
2: 158,354,758 (GRCm39) |
M15L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,177,173 (GRCm39) |
F2020L |
probably damaging |
Het |
| BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
| Ccdc40 |
C |
A |
11: 119,155,292 (GRCm39) |
S1177R |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,355 (GRCm39) |
R294S |
probably benign |
Het |
| Cib1 |
A |
C |
7: 79,882,291 (GRCm39) |
S6R |
probably damaging |
Het |
| Csnk2a1 |
A |
G |
2: 152,099,886 (GRCm39) |
E114G |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,354,128 (GRCm39) |
|
probably benign |
Het |
| Decr2 |
A |
C |
17: 26,307,911 (GRCm39) |
I47M |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,327,027 (GRCm39) |
|
probably null |
Het |
| Dse |
G |
A |
10: 34,060,149 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,708,981 (GRCm39) |
V1480A |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,805,755 (GRCm39) |
I165M |
probably benign |
Het |
| Fan1 |
G |
T |
7: 64,016,406 (GRCm39) |
Q573K |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,793,955 (GRCm39) |
T906I |
probably benign |
Het |
| Gm21915 |
A |
C |
9: 40,582,006 (GRCm39) |
H33P |
possibly damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Lama3 |
G |
T |
18: 12,624,000 (GRCm39) |
Q1384H |
probably damaging |
Het |
| Lrrc34 |
C |
T |
3: 30,678,979 (GRCm39) |
E373K |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,178,785 (GRCm39) |
F677L |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,588,673 (GRCm39) |
D493G |
probably benign |
Het |
| Mta3 |
A |
T |
17: 84,096,369 (GRCm39) |
I348F |
possibly damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,205 (GRCm39) |
F170L |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,539,083 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
A |
T |
4: 41,023,727 (GRCm39) |
E1045D |
probably damaging |
Het |
| Npffr2 |
T |
G |
5: 89,731,177 (GRCm39) |
V369G |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,061,854 (GRCm39) |
C95R |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,985 (GRCm39) |
M267K |
possibly damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,528 (GRCm39) |
I283N |
probably damaging |
Het |
| Or5t18 |
A |
T |
2: 86,636,575 (GRCm39) |
M256K |
probably damaging |
Het |
| Or5w13 |
G |
T |
2: 87,524,057 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 120,691,894 (GRCm39) |
E41K |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,501,400 (GRCm39) |
V385A |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,567,623 (GRCm39) |
T673M |
possibly damaging |
Het |
| Rbm20 |
G |
T |
19: 53,821,120 (GRCm39) |
C525F |
probably damaging |
Het |
| Rnf17 |
A |
T |
14: 56,737,886 (GRCm39) |
E1222D |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 51,922,143 (GRCm39) |
A2331V |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,615,819 (GRCm39) |
I24N |
probably damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,850 (GRCm39) |
V29A |
possibly damaging |
Het |
| Shisa3 |
T |
A |
5: 67,768,749 (GRCm39) |
Y216* |
probably null |
Het |
| Slc22a2 |
A |
T |
17: 12,831,425 (GRCm39) |
Y405F |
probably benign |
Het |
| Slc2a12 |
A |
T |
10: 22,568,105 (GRCm39) |
M511L |
possibly damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,840,136 (GRCm39) |
H338Q |
probably damaging |
Het |
| Slco1c1 |
T |
G |
6: 141,505,531 (GRCm39) |
S486A |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,461,524 (GRCm39) |
S1524P |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,184,140 (GRCm39) |
S561P |
possibly damaging |
Het |
| Stac3 |
T |
A |
10: 127,340,781 (GRCm39) |
M182K |
probably damaging |
Het |
| Stt3b |
T |
C |
9: 115,077,685 (GRCm39) |
E689G |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,248,091 (GRCm39) |
K271E |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,116,708 (GRCm39) |
Y309H |
probably benign |
Het |
| Tmem101 |
A |
G |
11: 102,044,336 (GRCm39) |
F184L |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,772,166 (GRCm39) |
Q273R |
probably benign |
Het |
| Zfyve28 |
A |
G |
5: 34,390,670 (GRCm39) |
L197P |
probably damaging |
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 |
|
|
R6990:Tbc1d5
|
UTSW |
17 |
51,275,260 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
51,106,978 (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 |
|
|
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'- AGATTTCATGGATTCTGCTTCTGAG -3'
(R):5'- TGCTCCCCTGAATATACACAAG -3'
Sequencing Primer
(F):5'- TCTGAGATGTTGGTTTCTCACC -3'
(R):5'- GGTCTCCAACAGCTTGATTAAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation