Incidental Mutation 'R1203:Tbcel'
| ID |
100264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcel
|
| Ensembl Gene |
ENSMUSG00000037287 |
| Gene Name |
tubulin folding cofactor E-like |
| Synonyms |
E130107N23Rik, Lrrc35 |
| MMRRC Submission |
039273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R1203 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
42323612-42383534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 42362947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 50
(V50G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066148]
[ENSMUST00000066179]
[ENSMUST00000125995]
[ENSMUST00000128959]
[ENSMUST00000134374]
[ENSMUST00000138506]
|
| AlphaFold |
Q8C5W3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066148
AA Change: V32G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: V32G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
73 |
103 |
7.53e-6 |
PROSPERO |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
173 |
203 |
7.53e-6 |
PROSPERO |
|
Pfam:Ubiquitin_2
|
344 |
424 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066179
AA Change: V50G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: V50G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
91 |
121 |
9.76e-6 |
PROSPERO |
|
low complexity region
|
123 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
178 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
191 |
221 |
9.76e-6 |
PROSPERO |
|
Pfam:Ubiquitin_2
|
362 |
442 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125995
AA Change: V32G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: V32G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
73 |
103 |
7.53e-6 |
PROSPERO |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
173 |
203 |
7.53e-6 |
PROSPERO |
|
Pfam:Ubiquitin_2
|
344 |
424 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128959
AA Change: V32G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: V32G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
73 |
103 |
7.53e-6 |
PROSPERO |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
173 |
203 |
7.53e-6 |
PROSPERO |
|
Pfam:Ubiquitin_2
|
344 |
424 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134374
AA Change: V32G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138506
AA Change: V32G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: V32G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
73 |
103 |
7.53e-6 |
PROSPERO |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
173 |
203 |
7.53e-6 |
PROSPERO |
|
Pfam:Ubiquitin_2
|
344 |
424 |
1.1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.6796 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.6%
- 20x: 89.3%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
| Aadacl3 |
T |
C |
4: 144,190,140 (GRCm39) |
T54A |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,618,780 (GRCm39) |
I791T |
probably damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,359 (GRCm39) |
D299G |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,000,764 (GRCm39) |
E66G |
probably damaging |
Het |
| Atl2 |
G |
T |
17: 80,160,334 (GRCm39) |
H418N |
probably damaging |
Het |
| Atp6v1d |
A |
G |
12: 78,908,214 (GRCm39) |
I7T |
possibly damaging |
Het |
| Calhm3 |
C |
T |
19: 47,143,839 (GRCm39) |
V155M |
probably damaging |
Het |
| Carmil1 |
A |
T |
13: 24,282,989 (GRCm39) |
I105K |
probably damaging |
Het |
| Csrp3 |
C |
A |
7: 48,489,278 (GRCm39) |
M1I |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,837,078 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,897,547 (GRCm39) |
N3561S |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,772,180 (GRCm39) |
D496E |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,820,797 (GRCm39) |
V246A |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,643,313 (GRCm39) |
V74E |
probably benign |
Het |
| Gm14137 |
C |
T |
2: 119,005,605 (GRCm39) |
R55W |
probably damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,830 (GRCm39) |
I42V |
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,870 (GRCm39) |
V194A |
probably damaging |
Het |
| Kdm5d |
C |
T |
Y: 941,011 (GRCm39) |
S1132F |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Ncln |
A |
G |
10: 81,332,027 (GRCm39) |
V24A |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,573,289 (GRCm39) |
K76E |
probably damaging |
Het |
| Nsf |
CAATAATAATAATAATA |
CAATAATAATAATAATAATA |
11: 103,816,952 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or52h2 |
A |
T |
7: 103,839,060 (GRCm39) |
L118* |
probably null |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Pcbd2 |
G |
A |
13: 55,880,881 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
A |
11: 54,582,525 (GRCm39) |
V1479D |
probably benign |
Het |
| Rnf43 |
T |
C |
11: 87,618,301 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,329,978 (GRCm39) |
W1113R |
probably damaging |
Het |
| Sall1 |
A |
T |
8: 89,758,562 (GRCm39) |
V514E |
probably damaging |
Het |
| Sgpp1 |
A |
G |
12: 75,763,056 (GRCm39) |
I375T |
probably benign |
Het |
| Strc |
T |
C |
2: 121,202,604 (GRCm39) |
N1187S |
possibly damaging |
Het |
| Tbc1d17 |
G |
A |
7: 44,492,895 (GRCm39) |
R363W |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,366,451 (GRCm39) |
Q242R |
probably benign |
Het |
| Tead3 |
C |
T |
17: 28,560,536 (GRCm39) |
A23T |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tlcd5 |
A |
G |
9: 43,022,775 (GRCm39) |
V193A |
probably benign |
Het |
| Tmem241 |
G |
T |
18: 12,217,035 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
G |
T |
10: 100,312,606 (GRCm39) |
T79K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,362,281 (GRCm39) |
V241A |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,330,307 (GRCm39) |
I729F |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
| Other mutations in Tbcel |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Tbcel
|
APN |
9 |
42,354,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01432:Tbcel
|
APN |
9 |
42,355,817 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02223:Tbcel
|
APN |
9 |
42,363,014 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03336:Tbcel
|
APN |
9 |
42,350,427 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0346:Tbcel
|
UTSW |
9 |
42,348,539 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Tbcel
|
UTSW |
9 |
42,355,796 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0849:Tbcel
|
UTSW |
9 |
42,348,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Tbcel
|
UTSW |
9 |
42,361,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1617:Tbcel
|
UTSW |
9 |
42,372,589 (GRCm39) |
intron |
probably benign |
|
|
R1995:Tbcel
|
UTSW |
9 |
42,362,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Tbcel
|
UTSW |
9 |
42,327,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3618:Tbcel
|
UTSW |
9 |
42,372,591 (GRCm39) |
intron |
probably benign |
|
|
R4681:Tbcel
|
UTSW |
9 |
42,361,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Tbcel
|
UTSW |
9 |
42,327,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Tbcel
|
UTSW |
9 |
42,363,041 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R5838:Tbcel
|
UTSW |
9 |
42,327,168 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5976:Tbcel
|
UTSW |
9 |
42,350,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6993:Tbcel
|
UTSW |
9 |
42,327,413 (GRCm39) |
nonsense |
probably null |
|
|
R8480:Tbcel
|
UTSW |
9 |
42,375,169 (GRCm39) |
splice site |
probably null |
|
|
S24628:Tbcel
|
UTSW |
9 |
42,355,796 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCTCCAGCCAATCTGGAAGAC -3'
(R):5'- GTTACACACTTCTCCAGTACCCAGC -3'
Sequencing Primer
(F):5'- TGGAAGACTCAGTTCTCCGAG -3'
(R):5'- CCTTCCTTGTGAATAAGAATTCGTTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation