Incidental Mutation 'R5271:Tbc1d8'
| ID |
400257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d8
|
| Ensembl Gene |
ENSMUSG00000003134 |
| Gene Name |
TBC1 domain family, member 8 |
| Synonyms |
GRAM domain, BUB2-like protein 1, HBLP1, AD3 |
| MMRRC Submission |
042861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5271 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39412848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 976
(E976V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000086535]
[ENSMUST00000178079]
[ENSMUST00000179954]
[ENSMUST00000192531]
[ENSMUST00000193823]
[ENSMUST00000195123]
[ENSMUST00000194746]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054462
AA Change: E976V
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: E976V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
GRAM
|
145 |
212 |
3.6e-20 |
SMART |
|
GRAM
|
285 |
353 |
2.77e-21 |
SMART |
|
TBC
|
501 |
714 |
4.51e-54 |
SMART |
|
Blast:TBC
|
726 |
923 |
1e-120 |
BLAST |
|
coiled coil region
|
960 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1030 |
1045 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086535
|
| SMART Domains |
Protein: ENSMUSP00000083722
Gene: ENSMUSG00000073702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-43 |
PFAM |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178079
|
| SMART Domains |
Protein: ENSMUSP00000136354
Gene: ENSMUSG00000073702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-43 |
PFAM |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179954
|
| SMART Domains |
Protein: ENSMUSP00000137631
Gene: ENSMUSG00000073702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-43 |
PFAM |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191855
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192099
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192531
|
| SMART Domains |
Protein: ENSMUSP00000142143
Gene: ENSMUSG00000003134
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193823
AA Change: E976V
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: E976V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
GRAM
|
145 |
212 |
1.2e-22 |
SMART |
|
GRAM
|
285 |
353 |
9.6e-24 |
SMART |
|
TBC
|
501 |
714 |
2.2e-56 |
SMART |
|
Blast:TBC
|
726 |
923 |
1e-120 |
BLAST |
|
coiled coil region
|
960 |
990 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195123
|
| SMART Domains |
Protein: ENSMUSP00000142039
Gene: ENSMUSG00000073702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L31e
|
18 |
83 |
7.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194746
|
| SMART Domains |
Protein: ENSMUSP00000141808
Gene: ENSMUSG00000073702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L31e
|
18 |
101 |
3.1e-40 |
PFAM |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0734 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,496 (GRCm39) |
K33R |
possibly damaging |
Het |
| 4632415L05Rik |
C |
T |
3: 19,949,311 (GRCm39) |
|
noncoding transcript |
Het |
| 4930542C16Rik |
A |
C |
14: 24,665,598 (GRCm39) |
|
noncoding transcript |
Het |
| Adprh |
A |
T |
16: 38,266,416 (GRCm39) |
L242* |
probably null |
Het |
| Anapc1 |
G |
A |
2: 128,527,905 (GRCm39) |
Q18* |
probably null |
Het |
| Bfar |
T |
C |
16: 13,510,261 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,745,568 (GRCm39) |
I206V |
probably benign |
Het |
| Cc2d1b |
T |
A |
4: 108,480,826 (GRCm39) |
|
probably benign |
Het |
| Clock |
A |
G |
5: 76,389,801 (GRCm39) |
I349T |
probably damaging |
Het |
| Cox11 |
A |
G |
11: 90,534,558 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cyp1a1 |
G |
A |
9: 57,610,121 (GRCm39) |
V512M |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,371,671 (GRCm39) |
F311S |
probably benign |
Het |
| Dnase1l3 |
T |
C |
14: 7,993,843 (GRCm38) |
D48G |
probably damaging |
Het |
| Engase |
G |
T |
11: 118,372,223 (GRCm39) |
A172S |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,465,466 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
A |
G |
8: 122,997,872 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,105,517 (GRCm39) |
V215A |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm20671 |
T |
C |
5: 32,977,303 (GRCm39) |
K1817R |
possibly damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,583 (GRCm39) |
Y410* |
probably null |
Het |
| Gm27013 |
T |
C |
6: 130,653,878 (GRCm39) |
Y528C |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,400,680 (GRCm39) |
H550R |
probably benign |
Het |
| Iqgap1 |
A |
T |
7: 80,383,896 (GRCm39) |
V1056E |
probably damaging |
Het |
| Lrit3 |
T |
A |
3: 129,581,950 (GRCm39) |
Y679F |
probably damaging |
Het |
| Megf8 |
A |
T |
7: 25,041,131 (GRCm39) |
E1120V |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,095,577 (GRCm39) |
E518G |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,814,665 (GRCm39) |
I2200M |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,598,725 (GRCm39) |
H66R |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,231,371 (GRCm39) |
V812A |
probably damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,650 (GRCm39) |
Y310H |
possibly damaging |
Het |
| Ndst1 |
G |
A |
18: 60,838,204 (GRCm39) |
T347I |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,313,424 (GRCm39) |
L276S |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,113,297 (GRCm39) |
F60Y |
probably benign |
Het |
| Pcdhb10 |
C |
A |
18: 37,546,222 (GRCm39) |
Q433K |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,624,649 (GRCm39) |
V660M |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
| Pira12 |
A |
T |
7: 3,900,566 (GRCm39) |
Y61* |
probably null |
Het |
| Polk |
T |
C |
13: 96,620,047 (GRCm39) |
S718G |
probably benign |
Het |
| Ptpdc1 |
T |
C |
13: 48,744,174 (GRCm39) |
D149G |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,417 (GRCm39) |
C35* |
probably null |
Het |
| Samd9l |
C |
T |
6: 3,376,156 (GRCm39) |
M368I |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,110,107 (GRCm39) |
M1739T |
probably damaging |
Het |
| Slc18a3 |
A |
G |
14: 32,185,705 (GRCm39) |
L226P |
probably damaging |
Het |
| St7l |
A |
T |
3: 104,775,376 (GRCm39) |
Y84F |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,062,329 (GRCm39) |
N392I |
probably benign |
Het |
| Syngr1 |
T |
A |
15: 79,982,240 (GRCm39) |
M9K |
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,816,930 (GRCm39) |
S157P |
probably damaging |
Het |
| Tagap1 |
G |
T |
17: 7,223,495 (GRCm39) |
Y400* |
probably null |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,414,894 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,536,861 (GRCm39) |
S34988N |
possibly damaging |
Het |
| Tubg1 |
T |
G |
11: 101,011,064 (GRCm39) |
N15K |
probably damaging |
Het |
| Unc93a2 |
T |
C |
17: 7,637,081 (GRCm39) |
N149S |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zap70 |
T |
A |
1: 36,820,446 (GRCm39) |
V547D |
probably damaging |
Het |
| Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
| Znrf1 |
T |
G |
8: 112,335,976 (GRCm39) |
M159R |
probably benign |
Het |
|
| Other mutations in Tbc1d8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Tbc1d8
|
APN |
1 |
39,433,210 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01501:Tbc1d8
|
APN |
1 |
39,428,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Tbc1d8
|
APN |
1 |
39,420,385 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01884:Tbc1d8
|
APN |
1 |
39,415,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01919:Tbc1d8
|
APN |
1 |
39,431,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Tbc1d8
|
APN |
1 |
39,419,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02123:Tbc1d8
|
APN |
1 |
39,415,988 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02135:Tbc1d8
|
APN |
1 |
39,441,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02317:Tbc1d8
|
APN |
1 |
39,415,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02325:Tbc1d8
|
APN |
1 |
39,433,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02607:Tbc1d8
|
APN |
1 |
39,418,592 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0533:Tbc1d8
|
UTSW |
1 |
39,411,855 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0604:Tbc1d8
|
UTSW |
1 |
39,444,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Tbc1d8
|
UTSW |
1 |
39,411,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0639:Tbc1d8
|
UTSW |
1 |
39,430,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0976:Tbc1d8
|
UTSW |
1 |
39,445,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1051:Tbc1d8
|
UTSW |
1 |
39,420,534 (GRCm39) |
nonsense |
probably null |
|
|
R1605:Tbc1d8
|
UTSW |
1 |
39,430,206 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1622:Tbc1d8
|
UTSW |
1 |
39,419,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1710:Tbc1d8
|
UTSW |
1 |
39,445,918 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2419:Tbc1d8
|
UTSW |
1 |
39,415,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Tbc1d8
|
UTSW |
1 |
39,444,368 (GRCm39) |
splice site |
probably null |
|
|
R2862:Tbc1d8
|
UTSW |
1 |
39,441,777 (GRCm39) |
nonsense |
probably null |
|
|
R2870:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2874:Tbc1d8
|
UTSW |
1 |
39,444,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3759:Tbc1d8
|
UTSW |
1 |
39,415,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Tbc1d8
|
UTSW |
1 |
39,411,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4154:Tbc1d8
|
UTSW |
1 |
39,425,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4613:Tbc1d8
|
UTSW |
1 |
39,411,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4737:Tbc1d8
|
UTSW |
1 |
39,441,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4738:Tbc1d8
|
UTSW |
1 |
39,441,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4739:Tbc1d8
|
UTSW |
1 |
39,441,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4740:Tbc1d8
|
UTSW |
1 |
39,441,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5189:Tbc1d8
|
UTSW |
1 |
39,424,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5308:Tbc1d8
|
UTSW |
1 |
39,428,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5393:Tbc1d8
|
UTSW |
1 |
39,465,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5529:Tbc1d8
|
UTSW |
1 |
39,411,836 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5897:Tbc1d8
|
UTSW |
1 |
39,431,190 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6160:Tbc1d8
|
UTSW |
1 |
39,411,484 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6408:Tbc1d8
|
UTSW |
1 |
39,441,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6409:Tbc1d8
|
UTSW |
1 |
39,411,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6554:Tbc1d8
|
UTSW |
1 |
39,445,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Tbc1d8
|
UTSW |
1 |
39,428,455 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7282:Tbc1d8
|
UTSW |
1 |
39,411,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7294:Tbc1d8
|
UTSW |
1 |
39,445,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Tbc1d8
|
UTSW |
1 |
39,433,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7718:Tbc1d8
|
UTSW |
1 |
39,416,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Tbc1d8
|
UTSW |
1 |
39,425,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7918:Tbc1d8
|
UTSW |
1 |
39,441,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7972:Tbc1d8
|
UTSW |
1 |
39,431,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8269:Tbc1d8
|
UTSW |
1 |
39,465,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8352:Tbc1d8
|
UTSW |
1 |
39,444,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Tbc1d8
|
UTSW |
1 |
39,420,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8452:Tbc1d8
|
UTSW |
1 |
39,444,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Tbc1d8
|
UTSW |
1 |
39,444,474 (GRCm39) |
missense |
|
|
|
R9712:Tbc1d8
|
UTSW |
1 |
39,424,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACGAAACCTGTTTCCCTG -3'
(R):5'- GGTCCTCTTTTACCAGGAAGG -3'
Sequencing Primer
(F):5'- CTGTGGCACTTGTGTAGCACTAAC -3'
(R):5'- TCTTTTACCAGGAAGGCCCTAGAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation