Incidental Mutation 'R7484:Tbc1d5'
| ID |
580030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d5
|
| Ensembl Gene |
ENSMUSG00000023923 |
| Gene Name |
TBC1 domain family, member 5 |
| Synonyms |
1600014N05Rik |
| MMRRC Submission |
045558-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7484 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
51040152-51486380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 51224573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 326
(A326E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024717]
[ENSMUST00000224528]
|
| AlphaFold |
Q80XQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024717
AA Change: A326E
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: A326E
| 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: A326E
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
G |
4: 144,504,521 (GRCm39) |
L210P |
probably damaging |
Het |
| Acacb |
G |
A |
5: 114,356,923 (GRCm39) |
V1285I |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,386,789 (GRCm39) |
I591N |
probably damaging |
Het |
| Acr |
T |
A |
15: 89,457,427 (GRCm39) |
V225E |
probably damaging |
Het |
| Actr8 |
A |
G |
14: 29,714,925 (GRCm39) |
D580G |
probably damaging |
Het |
| Adamts12 |
C |
A |
15: 11,345,734 (GRCm39) |
Q1592K |
probably benign |
Het |
| Aire |
T |
C |
10: 77,878,404 (GRCm39) |
E138G |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,056,884 (GRCm39) |
Q1789* |
probably null |
Het |
| Cbx5 |
A |
C |
15: 103,114,256 (GRCm39) |
|
probably null |
Het |
| Cd300lb |
A |
T |
11: 114,819,345 (GRCm39) |
W95R |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,827,605 (GRCm39) |
T504A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,389,018 (GRCm39) |
S1605P |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,114,455 (GRCm39) |
V596A |
possibly damaging |
Het |
| Cntn1 |
T |
C |
15: 92,151,922 (GRCm39) |
W454R |
probably benign |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,223,099 (GRCm39) |
T104A |
possibly damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,289,760 (GRCm39) |
D209G |
possibly damaging |
Het |
| Ddx23 |
T |
C |
15: 98,546,570 (GRCm39) |
E533G |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,660,744 (GRCm39) |
|
probably null |
Het |
| Eif3l |
T |
G |
15: 78,968,336 (GRCm39) |
C202G |
probably benign |
Het |
| Ephx4 |
T |
G |
5: 107,577,612 (GRCm39) |
M312R |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,534,112 (GRCm39) |
|
probably null |
Het |
| Far2 |
G |
A |
6: 148,075,411 (GRCm39) |
D424N |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,489,221 (GRCm39) |
N3497K |
probably damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Fyb2 |
A |
T |
4: 104,870,499 (GRCm39) |
H700L |
probably benign |
Het |
| Gm8356 |
T |
A |
14: 17,691,282 (GRCm39) |
M128L |
probably benign |
Het |
| Golim4 |
G |
T |
3: 75,805,442 (GRCm39) |
|
probably null |
Het |
| Grm1 |
T |
G |
10: 10,622,403 (GRCm39) |
D440A |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,529,747 (GRCm39) |
V322A |
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,243,407 (GRCm39) |
|
probably null |
Het |
| Igfals |
G |
A |
17: 25,098,962 (GRCm39) |
V18M |
possibly damaging |
Het |
| Klk1b24 |
G |
T |
7: 43,839,688 (GRCm39) |
|
probably null |
Het |
| Lmbr1 |
T |
C |
5: 29,551,850 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
C |
3: 157,746,194 (GRCm39) |
S90P |
probably benign |
Het |
| Mapk9 |
T |
C |
11: 49,763,663 (GRCm39) |
Y185H |
probably damaging |
Het |
| Marveld2 |
C |
T |
13: 100,748,068 (GRCm39) |
G337D |
probably damaging |
Het |
| Mga |
G |
T |
2: 119,776,710 (GRCm39) |
R1539L |
probably damaging |
Het |
| Mllt6 |
T |
A |
11: 97,563,442 (GRCm39) |
S342T |
probably benign |
Het |
| Ms4a6c |
T |
C |
19: 11,449,893 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
A |
9: 18,558,064 (GRCm39) |
H2743L |
unknown |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or10ag60 |
T |
C |
2: 87,438,281 (GRCm39) |
F183S |
probably damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,753 (GRCm39) |
H55R |
possibly damaging |
Het |
| Plcd3 |
T |
G |
11: 102,962,545 (GRCm39) |
K635N |
probably damaging |
Het |
| Prkch |
T |
A |
12: 73,632,301 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
T |
C |
1: 6,344,441 (GRCm39) |
V1570A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,704 (GRCm39) |
N1803D |
probably benign |
Het |
| Rufy3 |
T |
A |
5: 88,746,331 (GRCm39) |
V72E |
probably benign |
Het |
| Secisbp2l |
G |
A |
2: 125,613,452 (GRCm39) |
Q181* |
probably null |
Het |
| Sgcb |
A |
G |
5: 73,797,188 (GRCm39) |
F191L |
possibly damaging |
Het |
| Sgsh |
T |
A |
11: 119,237,183 (GRCm39) |
D477V |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,062,286 (GRCm39) |
V924E |
probably damaging |
Het |
| Slc22a28 |
C |
A |
19: 8,048,492 (GRCm39) |
S385I |
probably benign |
Het |
| Slc26a3 |
T |
C |
12: 31,497,787 (GRCm39) |
V47A |
probably benign |
Het |
| Slco2a1 |
A |
T |
9: 102,945,185 (GRCm39) |
I187F |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,481,179 (GRCm39) |
S344P |
unknown |
Het |
| Sort1 |
A |
G |
3: 108,246,141 (GRCm39) |
T373A |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,882,274 (GRCm39) |
F474L |
probably benign |
Het |
| Tcstv4 |
A |
T |
13: 120,770,017 (GRCm39) |
K112N |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,951,562 (GRCm39) |
T425I |
probably benign |
Het |
| Zfp30 |
T |
C |
7: 29,492,231 (GRCm39) |
Y243H |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,559 (GRCm39) |
N55K |
possibly damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,435 (GRCm39) |
L295P |
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 |
|
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'- TTTAATTTTAGGGAACTGAGCTACTC -3'
(R):5'- TGGTTCATGATTCTACATTTTATGCCT -3'
Sequencing Primer
(F):5'- AGTGGATGCTCACAGTCATC -3'
(R):5'- TTGTTAGGAGGAAGTAGTTTTGATTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation