Incidental Mutation 'R5529:Tbc1d8'
| ID |
433558 |
| 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 |
043087-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
39410573-39517836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 39411836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 1000
(Y1000S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054462]
[ENSMUST00000086535]
[ENSMUST00000178079]
[ENSMUST00000179954]
[ENSMUST00000192531]
[ENSMUST00000193823]
[ENSMUST00000194746]
[ENSMUST00000195123]
|
| AlphaFold |
Q9Z1A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054462
AA Change: Y1000S
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: Y1000S
| 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 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,304,040 (GRCm39) |
Y2079C |
probably damaging |
Het |
| Alg2 |
T |
C |
4: 47,472,101 (GRCm39) |
R236G |
probably damaging |
Het |
| Alpl |
T |
A |
4: 137,473,733 (GRCm39) |
N323I |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,976,238 (GRCm39) |
E172G |
probably benign |
Het |
| Atp8a2 |
A |
G |
14: 60,031,314 (GRCm39) |
|
probably null |
Het |
| Cadps |
T |
C |
14: 12,454,285 (GRCm38) |
K1078E |
probably damaging |
Het |
| Ccn5 |
T |
C |
2: 163,667,279 (GRCm39) |
|
probably null |
Het |
| Ces2e |
G |
T |
8: 105,656,543 (GRCm39) |
V258L |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,766,085 (GRCm39) |
F1041S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,617,932 (GRCm39) |
I114V |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,229,587 (GRCm39) |
R496Q |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,714,126 (GRCm39) |
R1335S |
probably benign |
Het |
| F12 |
T |
C |
13: 55,569,872 (GRCm39) |
N102S |
probably benign |
Het |
| Fbn1 |
G |
A |
2: 125,215,870 (GRCm39) |
L712F |
probably benign |
Het |
| Fgf1 |
G |
T |
18: 38,991,657 (GRCm39) |
F37L |
probably damaging |
Het |
| Fgf14 |
T |
A |
14: 124,217,867 (GRCm39) |
H212L |
probably damaging |
Het |
| Gm10036 |
A |
T |
18: 15,965,858 (GRCm39) |
Q3L |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,310,126 (GRCm39) |
F789L |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,279,139 (GRCm39) |
T3074N |
probably damaging |
Het |
| Katnb1 |
C |
T |
8: 95,824,300 (GRCm39) |
R495C |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,515,741 (GRCm39) |
H122Y |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,274 (GRCm39) |
S427L |
probably benign |
Het |
| Med9 |
T |
G |
11: 59,851,486 (GRCm39) |
V105G |
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 57,028,059 (GRCm39) |
V43D |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,448,873 (GRCm39) |
C359S |
possibly damaging |
Het |
| Or12k8 |
T |
A |
2: 36,974,921 (GRCm39) |
I280F |
possibly damaging |
Het |
| Or51e1 |
A |
T |
7: 102,358,900 (GRCm39) |
K145* |
probably null |
Het |
| Paxbp1 |
T |
A |
16: 90,827,401 (GRCm39) |
Y478F |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,480,332 (GRCm39) |
E92K |
probably benign |
Het |
| Prom1 |
G |
T |
5: 44,184,110 (GRCm39) |
L449M |
probably damaging |
Het |
| Psg28 |
G |
A |
7: 18,164,373 (GRCm39) |
T113I |
probably benign |
Het |
| Reln |
A |
C |
5: 22,137,713 (GRCm39) |
V2493G |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,416,055 (GRCm39) |
V1686I |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 79,129,867 (GRCm39) |
I122V |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,098,529 (GRCm39) |
Y721H |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,354,749 (GRCm39) |
F223S |
probably damaging |
Het |
| Son |
T |
A |
16: 91,452,354 (GRCm39) |
L367Q |
probably damaging |
Het |
| Spred2 |
G |
T |
11: 19,971,301 (GRCm39) |
D363Y |
probably damaging |
Het |
| Tdp2 |
A |
T |
13: 25,022,219 (GRCm39) |
K213* |
probably null |
Het |
| Tmem89 |
T |
C |
9: 108,744,545 (GRCm39) |
I146T |
probably damaging |
Het |
| Vhl |
T |
C |
6: 113,606,424 (GRCm39) |
V147A |
probably benign |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Vrk2 |
T |
C |
11: 26,449,036 (GRCm39) |
D186G |
probably damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,710,474 (GRCm39) |
F1222L |
possibly damaging |
Het |
| Zfp266 |
A |
G |
9: 20,418,030 (GRCm39) |
S7P |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,407 (GRCm39) |
I494K |
possibly damaging |
Het |
| Zfp655 |
A |
G |
5: 145,181,546 (GRCm39) |
E468G |
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 |
|
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'- AAACTGAGTCCTGTTCGGGAG -3'
(R):5'- ACCCTTTCTAAATATGCTGCTTGTG -3'
Sequencing Primer
(F):5'- TGTTCGGGAGGAGCCGAG -3'
(R):5'- TGGGACACAACTATCACCCAGTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation