Incidental Mutation 'R7696:Tbc1d5'
| ID |
593680 |
| 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 # |
R7696 (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 G
at 51181605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 376
(I376T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
| AlphaFold |
Q80XQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024717
AA Change: I376T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: I376T
| 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 damaging
Transcript: ENSMUST00000224528
AA Change: I376T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
C |
T |
15: 11,258,224 (GRCm39) |
R512C |
probably damaging |
Het |
| Afap1l2 |
C |
A |
19: 56,902,918 (GRCm39) |
V754L |
probably damaging |
Het |
| Atp5f1a |
T |
A |
18: 77,868,686 (GRCm39) |
I393N |
probably damaging |
Het |
| Bbs1 |
C |
T |
19: 4,941,017 (GRCm39) |
|
probably null |
Het |
| Bglap2 |
A |
T |
3: 88,285,923 (GRCm39) |
L12Q |
unknown |
Het |
| Bsn |
C |
T |
9: 107,991,700 (GRCm39) |
V1351I |
probably damaging |
Het |
| Cbx1 |
T |
C |
11: 96,697,468 (GRCm39) |
V147A |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,953,434 (GRCm39) |
S484T |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,921,106 (GRCm39) |
I298K |
unknown |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,198 (GRCm39) |
I128L |
probably benign |
Het |
| Dhdds |
C |
T |
4: 133,724,225 (GRCm39) |
A30T |
probably damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,242,911 (GRCm39) |
N143S |
probably benign |
Het |
| Eno3 |
T |
G |
11: 70,552,809 (GRCm39) |
N363K |
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,364 (GRCm39) |
D267E |
probably damaging |
Het |
| Galr2 |
C |
T |
11: 116,173,993 (GRCm39) |
R208C |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,788,712 (GRCm39) |
R82C |
unknown |
Het |
| Hspg2 |
T |
A |
4: 137,239,277 (GRCm39) |
F401L |
possibly damaging |
Het |
| Iars1 |
G |
T |
13: 49,860,214 (GRCm39) |
W455L |
probably damaging |
Het |
| Irf1 |
C |
T |
11: 53,667,162 (GRCm39) |
H294Y |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,929,356 (GRCm39) |
L1091P |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,263 (GRCm39) |
D2054A |
probably benign |
Het |
| Map3k2 |
T |
A |
18: 32,353,647 (GRCm39) |
H472Q |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,840,158 (GRCm39) |
D2545G |
probably damaging |
Het |
| Nle1 |
G |
T |
11: 82,795,792 (GRCm39) |
Y218* |
probably null |
Het |
| Pdlim5 |
A |
T |
3: 141,983,623 (GRCm39) |
S377T |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,662,726 (GRCm39) |
M259K |
probably benign |
Het |
| Pou6f1 |
A |
G |
15: 100,481,979 (GRCm39) |
V268A |
probably benign |
Het |
| Prn |
C |
A |
2: 131,788,365 (GRCm39) |
L7I |
unknown |
Het |
| Prpf6 |
C |
T |
2: 181,250,035 (GRCm39) |
A65V |
possibly damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,345 (GRCm39) |
F138L |
probably benign |
Het |
| Ros1 |
C |
T |
10: 52,018,379 (GRCm39) |
V781M |
probably damaging |
Het |
| Sec16a |
C |
A |
2: 26,305,645 (GRCm39) |
|
probably null |
Het |
| Slc44a4 |
G |
A |
17: 35,147,676 (GRCm39) |
G606D |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,756,237 (GRCm39) |
C538* |
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,513,336 (GRCm39) |
Y537C |
probably benign |
Het |
| Speg |
T |
A |
1: 75,405,805 (GRCm39) |
L3003Q |
probably damaging |
Het |
| Ssr3 |
A |
G |
3: 65,299,886 (GRCm39) |
S25P |
probably benign |
Het |
| Stard13 |
C |
A |
5: 150,984,267 (GRCm39) |
R623L |
probably damaging |
Het |
| Tigd4 |
C |
A |
3: 84,502,224 (GRCm39) |
F380L |
possibly damaging |
Het |
| Tmc4 |
T |
C |
7: 3,672,574 (GRCm39) |
K489E |
probably damaging |
Het |
| Tmem114 |
C |
T |
16: 8,242,353 (GRCm39) |
R55H |
probably benign |
Het |
| Tmem168 |
A |
G |
6: 13,602,937 (GRCm39) |
I143T |
probably benign |
Het |
| Tmem87b |
C |
T |
2: 128,683,237 (GRCm39) |
T397I |
probably damaging |
Het |
| Tom1l1 |
C |
A |
11: 90,563,741 (GRCm39) |
R173L |
probably benign |
Het |
| Trim10 |
G |
A |
17: 37,182,644 (GRCm39) |
R170K |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,429,134 (GRCm39) |
Y222N |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,494 (GRCm39) |
I690F |
possibly damaging |
Het |
| Zfp1006 |
A |
G |
8: 129,945,794 (GRCm39) |
Y344H |
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 |
|
|
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 |
|
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'- TCTTTGAGGAGAACATCGACC -3'
(R):5'- ATGAGGAAAGGATCACTCTCAGATC -3'
Sequencing Primer
(F):5'- TCTTTGAGGAGAACATCGACCACATC -3'
(R):5'- AAGGATCACTCTCAGATCTTGTTTTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation