Incidental Mutation 'R8848:Tbc1d5'
| ID |
674855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d5
|
| Ensembl Gene |
ENSMUSG00000023923 |
| Gene Name |
TBC1 domain family, member 5 |
| Synonyms |
1600014N05Rik |
| MMRRC Submission |
068671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51226082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 254
(F254I)
|
| 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: F254I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: F254I
| 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: F254I
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 |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,778,106 (GRCm39) |
D46G |
probably benign |
Het |
| Abcc8 |
A |
T |
7: 45,766,769 (GRCm39) |
W1004R |
possibly damaging |
Het |
| Acbd3 |
T |
A |
1: 180,562,084 (GRCm39) |
|
probably null |
Het |
| Adh1 |
G |
T |
3: 137,986,262 (GRCm39) |
C83F |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,477,481 (GRCm39) |
V20A |
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,905,327 (GRCm39) |
I506T |
possibly damaging |
Het |
| Brf2 |
T |
C |
8: 27,616,140 (GRCm39) |
I82V |
probably benign |
Het |
| C7 |
A |
G |
15: 5,088,911 (GRCm39) |
V10A |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,845,283 (GRCm39) |
V651M |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,391,855 (GRCm39) |
I458T |
possibly damaging |
Het |
| Cadps2 |
C |
A |
6: 23,344,256 (GRCm39) |
W897L |
probably damaging |
Het |
| Cdhr1 |
T |
A |
14: 36,802,531 (GRCm39) |
N644I |
probably benign |
Het |
| Cox7c |
A |
T |
13: 86,193,900 (GRCm39) |
I55K |
possibly damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,577 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
G |
A |
19: 39,801,244 (GRCm39) |
R4C |
unknown |
Het |
| Ehd3 |
A |
T |
17: 74,136,911 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
T |
5: 31,348,210 (GRCm39) |
C227S |
probably damaging |
Het |
| Erlec1 |
T |
C |
11: 30,898,411 (GRCm39) |
Y213C |
probably damaging |
Het |
| F11 |
G |
T |
8: 45,695,281 (GRCm39) |
Y562* |
probably null |
Het |
| Fam186a |
A |
G |
15: 99,838,034 (GRCm39) |
S2737P |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,878,398 (GRCm39) |
E3361G |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,552,902 (GRCm39) |
M122L |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,929,207 (GRCm39) |
N3870K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,806,280 (GRCm39) |
T304S |
possibly damaging |
Het |
| Grin3b |
A |
T |
10: 79,809,667 (GRCm39) |
D391V |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,528 (GRCm39) |
D279V |
probably damaging |
Het |
| Il4i1 |
C |
A |
7: 44,489,175 (GRCm39) |
D313E |
probably damaging |
Het |
| Kcnk7 |
T |
A |
19: 5,756,743 (GRCm39) |
L244Q |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,310,840 (GRCm39) |
M593L |
probably benign |
Het |
| Lix1 |
G |
A |
17: 17,663,955 (GRCm39) |
A98T |
probably damaging |
Het |
| Lpo |
T |
A |
11: 87,708,603 (GRCm39) |
I132L |
probably benign |
Het |
| Mymx |
A |
T |
17: 45,912,935 (GRCm39) |
|
probably null |
Het |
| Nms |
T |
C |
1: 38,978,391 (GRCm39) |
S9P |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,645,137 (GRCm39) |
D535G |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,902 (GRCm39) |
I90F |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,266,929 (GRCm39) |
I102N |
probably benign |
Het |
| Or8k25 |
T |
C |
2: 86,243,821 (GRCm39) |
T192A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,607,052 (GRCm39) |
C381R |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,652 (GRCm39) |
S539G |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,971,446 (GRCm39) |
R66L |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,500,834 (GRCm39) |
L1318Q |
probably damaging |
Het |
| Ppara |
T |
A |
15: 85,673,188 (GRCm39) |
F126L |
possibly damaging |
Het |
| Rab11a |
T |
C |
9: 64,624,264 (GRCm39) |
Y173C |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,705 (GRCm39) |
M2566K |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,884,987 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
A |
2: 66,530,393 (GRCm39) |
R651* |
probably null |
Het |
| Slc15a4 |
T |
G |
5: 127,679,021 (GRCm39) |
I440L |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,290,902 (GRCm39) |
T623A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,874,962 (GRCm39) |
S628T |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,404,082 (GRCm39) |
|
probably null |
Het |
| Spta1 |
G |
A |
1: 174,025,310 (GRCm39) |
R725K |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,288,528 (GRCm39) |
E185G |
probably null |
Het |
| Svop |
G |
T |
5: 114,183,687 (GRCm39) |
T195K |
|
Het |
| Ulk3 |
T |
C |
9: 57,496,890 (GRCm39) |
L8P |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,433,263 (GRCm39) |
I1973V |
probably benign |
Het |
| Upb1 |
T |
A |
10: 75,264,178 (GRCm39) |
|
probably null |
Het |
| Usp53 |
C |
T |
3: 122,742,825 (GRCm39) |
G704S |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,743,235 (GRCm39) |
D567G |
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,404,269 (GRCm39) |
I60F |
probably damaging |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,307 (GRCm39) |
V694I |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,786,169 (GRCm39) |
F324S |
probably damaging |
Het |
| Vps37d |
A |
G |
5: 135,102,519 (GRCm39) |
S238P |
probably damaging |
Het |
| Zfp407 |
T |
A |
18: 84,578,819 (GRCm39) |
I765F |
probably damaging |
Het |
| Zfp455 |
A |
G |
13: 67,356,089 (GRCm39) |
I387M |
possibly 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 |
51,106,969 (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 |
|
|
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'- TCCATATGATAGCCAGGTATGGATTG -3'
(R):5'- GCCCTCCTTAATTAAACACTGC -3'
Sequencing Primer
(F):5'- AGCCAGGTATGGATTGAATCATCCC -3'
(R):5'- ACACTGCTTATTTCCAGAGTTTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation