Incidental Mutation 'R6160:Tbc1d8'
| ID |
489786 |
| 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 |
044307-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39411484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1117
(K1117N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000086535]
[ENSMUST00000178079]
[ENSMUST00000179954]
[ENSMUST00000192531]
[ENSMUST00000195123]
[ENSMUST00000193823]
[ENSMUST00000194746]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054462
AA Change: K1117N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: K1117N
| 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 |
unknown
Transcript: ENSMUST00000192099
AA Change: K10N
|
| 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 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: ENSMUST00000193823
|
| SMART Domains |
Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
| 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: 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 |
0.0780 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
94% (62/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,642,950 (GRCm39) |
S297R |
possibly damaging |
Het |
| 5530400C23Rik |
A |
G |
6: 133,271,289 (GRCm39) |
E111G |
possibly damaging |
Het |
| 8030423J24Rik |
T |
A |
13: 71,032,029 (GRCm39) |
S34T |
unknown |
Het |
| Ace3 |
T |
A |
11: 105,885,558 (GRCm39) |
W20R |
possibly damaging |
Het |
| Adgrf1 |
A |
G |
17: 43,621,578 (GRCm39) |
E605G |
probably damaging |
Het |
| Arhgap44 |
G |
A |
11: 65,053,375 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
C |
9: 53,402,259 (GRCm39) |
H1404Q |
probably benign |
Het |
| AW209491 |
A |
G |
13: 14,811,306 (GRCm39) |
E53G |
probably damaging |
Het |
| Bhmt1b |
G |
A |
18: 87,775,245 (GRCm39) |
C256Y |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,298,107 (GRCm39) |
T366I |
probably benign |
Het |
| Cerk |
A |
T |
15: 86,026,974 (GRCm39) |
C179S |
probably benign |
Het |
| Cldn10 |
T |
C |
14: 119,099,255 (GRCm39) |
V123A |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,604 (GRCm39) |
K726E |
possibly damaging |
Het |
| Dcaf12 |
A |
T |
4: 41,294,043 (GRCm39) |
Y365N |
probably damaging |
Het |
| Dennd6b |
A |
G |
15: 89,073,024 (GRCm39) |
L171P |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,583,290 (GRCm39) |
V91I |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,972,387 (GRCm39) |
I1431V |
probably benign |
Het |
| Egln1 |
T |
C |
8: 125,675,231 (GRCm39) |
D188G |
probably damaging |
Het |
| Enpp5 |
T |
A |
17: 44,392,259 (GRCm39) |
N229K |
possibly damaging |
Het |
| Fmo1 |
T |
G |
1: 162,663,867 (GRCm39) |
I221L |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,818,289 (GRCm39) |
W4674* |
probably null |
Het |
| Gm12185 |
G |
A |
11: 48,799,255 (GRCm39) |
Q413* |
probably null |
Het |
| Gm7298 |
A |
T |
6: 121,741,886 (GRCm39) |
H436L |
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,717,684 (GRCm39) |
Q430* |
probably null |
Het |
| Hgd |
A |
G |
16: 37,433,660 (GRCm39) |
H134R |
probably damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,343 (GRCm39) |
E151G |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,724,827 (GRCm39) |
D99G |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,158,790 (GRCm39) |
|
probably null |
Het |
| Itgb1 |
T |
A |
8: 129,446,764 (GRCm39) |
F426L |
possibly damaging |
Het |
| Itpr1 |
A |
C |
6: 108,495,716 (GRCm39) |
I2534L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,573,756 (GRCm39) |
H235L |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,782,395 (GRCm39) |
I178N |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,047,310 (GRCm39) |
D252G |
probably damaging |
Het |
| Krt23 |
A |
G |
11: 99,376,544 (GRCm39) |
I204T |
probably damaging |
Het |
| Lipo4 |
A |
G |
19: 33,480,693 (GRCm39) |
L225P |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,903,548 (GRCm39) |
D245G |
possibly damaging |
Het |
| Mmp16 |
A |
G |
4: 18,051,857 (GRCm39) |
D282G |
probably damaging |
Het |
| Myo1c |
A |
T |
11: 75,541,568 (GRCm39) |
H18L |
probably benign |
Het |
| Myo1f |
C |
A |
17: 33,823,318 (GRCm39) |
P981Q |
probably benign |
Het |
| Nle1 |
A |
T |
11: 82,798,983 (GRCm39) |
F33I |
probably benign |
Het |
| Nlrp4e |
T |
G |
7: 23,020,731 (GRCm39) |
M406R |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,942,611 (GRCm39) |
V4857E |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,727,643 (GRCm39) |
|
probably null |
Het |
| Phospho1 |
A |
T |
11: 95,721,450 (GRCm39) |
E22V |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,167,838 (GRCm39) |
S703L |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,064,075 (GRCm39) |
L20P |
probably damaging |
Het |
| Psmb7 |
T |
C |
2: 38,533,393 (GRCm39) |
T45A |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,320,376 (GRCm39) |
I532T |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,222,362 (GRCm39) |
D208G |
probably damaging |
Het |
| Recql5 |
A |
G |
11: 115,823,613 (GRCm39) |
|
probably null |
Het |
| Resf1 |
G |
A |
6: 149,233,005 (GRCm39) |
|
probably null |
Het |
| Rfc4 |
A |
T |
16: 22,933,433 (GRCm39) |
I242N |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,503,235 (GRCm39) |
Y650C |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,462,853 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,202,190 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
A |
T |
6: 91,716,995 (GRCm39) |
|
probably null |
Het |
| Synj2 |
C |
A |
17: 6,058,336 (GRCm39) |
H275N |
possibly damaging |
Het |
| T |
A |
T |
17: 8,660,618 (GRCm39) |
T410S |
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,332,527 (GRCm39) |
I543V |
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,507,787 (GRCm39) |
L425* |
probably null |
Het |
| Trav14-3 |
A |
G |
14: 54,000,978 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tyro3 |
A |
C |
2: 119,633,751 (GRCm39) |
D133A |
probably damaging |
Het |
| Vmn1r119 |
T |
G |
7: 20,745,740 (GRCm39) |
H214P |
possibly damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,816,418 (GRCm39) |
P646S |
probably benign |
Het |
| Zbtb7c |
A |
T |
18: 76,278,904 (GRCm39) |
Y454F |
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,187,766 (GRCm39) |
L1144P |
probably damaging |
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 |
|
R5271:Tbc1d8
|
UTSW |
1 |
39,412,848 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- TAGTCACAGTGTATGTAAACAGGGC -3'
(R):5'- TGCTGAGGCTGGAAAGAGTC -3'
Sequencing Primer
(F):5'- TGTATGTAAACAGGGCGTCCC -3'
(R):5'- GAAAGAGTCCCCAGGCCTTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation