Incidental Mutation 'S24628:Tbcel'
| ID |
385660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcel
|
| Ensembl Gene |
ENSMUSG00000037287 |
| Gene Name |
tubulin folding cofactor E-like |
| Synonyms |
E130107N23Rik, Lrrc35 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
S24628 ()
of strain
waterfowl
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
42323612-42383534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 42355796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 139
(C139F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066148]
[ENSMUST00000066179]
[ENSMUST00000125995]
[ENSMUST00000128959]
[ENSMUST00000138506]
|
| AlphaFold |
Q8C5W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066148
AA Change: C121F
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: C121F
| 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 benign
Transcript: ENSMUST00000066179
AA Change: C139F
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: C139F
| 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 benign
Transcript: ENSMUST00000125995
AA Change: C121F
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: C121F
| 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 benign
Transcript: ENSMUST00000128959
AA Change: C121F
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: C121F
| 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 benign
Transcript: ENSMUST00000138506
AA Change: C121F
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: C121F
| 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 |
noncoding transcript
Transcript: ENSMUST00000196448
|
| Meta Mutation Damage Score |
0.0698 |
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
G |
A |
17: 56,159,288 (GRCm39) |
V658I |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,122,944 (GRCm39) |
Y249H |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Homo |
| Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
| Gpr183 |
C |
A |
14: 122,191,888 (GRCm39) |
C211F |
probably damaging |
Homo |
| Lcp1 |
A |
T |
14: 75,464,446 (GRCm39) |
I556F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,904,788 (GRCm39) |
P513S |
probably benign |
Het |
| Letm1 |
G |
A |
5: 33,904,790 (GRCm39) |
P512L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,483,294 (GRCm39) |
V283A |
possibly damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,782 (GRCm39) |
I213F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,399 (GRCm39) |
H191L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm39) |
A120V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,419 (GRCm39) |
Y609C |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,318 (GRCm39) |
H104Y |
probably benign |
Homo |
| Rnf213 |
A |
T |
11: 119,305,295 (GRCm39) |
I509F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,884,042 (GRCm39) |
S213G |
probably damaging |
Homo |
| Spint1 |
A |
G |
2: 119,076,096 (GRCm39) |
T231A |
probably damaging |
Het |
| Thbs2 |
A |
C |
17: 14,900,235 (GRCm39) |
S573A |
probably benign |
Het |
| Tmem43 |
C |
A |
6: 91,459,300 (GRCm39) |
P257Q |
probably benign |
Homo |
| Tmprss13 |
A |
G |
9: 45,248,430 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,936,249 (GRCm39) |
G229D |
probably damaging |
Homo |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,478,006 (GRCm39) |
V215D |
probably damaging |
Homo |
| Vmn1r22 |
G |
T |
6: 57,877,317 (GRCm39) |
T220K |
probably benign |
Homo |
| Vmn2r116 |
G |
A |
17: 23,606,253 (GRCm39) |
M388I |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,809,892 (GRCm39) |
M1V |
probably null |
Homo |
| Zfp282 |
A |
G |
6: 47,874,815 (GRCm39) |
D340G |
probably damaging |
Homo |
| Zfp282 |
T |
A |
6: 47,881,987 (GRCm39) |
I558N |
possibly damaging |
Homo |
|
| 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 |
|
R1203:Tbcel
|
UTSW |
9 |
42,362,947 (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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTTTCTGAGATCAAAGATGAGC -3'
(R):5'- TGCCTTTGCTAAGTGGTACTCC -3'
Sequencing Primer
(F):5'- CAGAGATTTCTATGCAGAGACGTGC -3'
(R):5'- TGGTACTCCCCGGGGTAAAAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation