Incidental Mutation 'R3618:Tbcel'
| ID |
268521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbcel
|
| Ensembl Gene |
ENSMUSG00000037287 |
| Gene Name |
tubulin folding cofactor E-like |
| Synonyms |
E130107N23Rik, Lrrc35 |
| MMRRC Submission |
040675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R3618 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
42323612-42383534 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 42372591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066148]
[ENSMUST00000066179]
[ENSMUST00000125995]
[ENSMUST00000128959]
[ENSMUST00000134374]
[ENSMUST00000138506]
|
| AlphaFold |
Q8C5W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066148
|
| SMART Domains |
Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
| 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 |
unknown
Transcript: ENSMUST00000066179
AA Change: N6D
|
| SMART Domains |
Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: N6D
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
| 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: ENSMUST00000134374
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138506
|
| SMART Domains |
Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,774,168 (GRCm39) |
E1119G |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,749,842 (GRCm39) |
I132T |
probably damaging |
Het |
| Arhgap29 |
G |
A |
3: 121,782,176 (GRCm39) |
D63N |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,994,760 (GRCm39) |
|
probably null |
Het |
| Cfap161 |
A |
C |
7: 83,429,390 (GRCm39) |
Y209* |
probably null |
Het |
| Drp2 |
A |
C |
X: 133,340,717 (GRCm39) |
D458A |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,834,270 (GRCm39) |
H446R |
probably benign |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| F13a1 |
G |
A |
13: 37,127,967 (GRCm39) |
T337I |
probably damaging |
Het |
| Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
| Hcfc1 |
A |
T |
X: 72,993,694 (GRCm39) |
V1157D |
probably benign |
Het |
| Inava |
A |
C |
1: 136,142,110 (GRCm39) |
V663G |
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,277,353 (GRCm39) |
D374G |
probably null |
Het |
| Kif1a |
T |
C |
1: 93,004,765 (GRCm39) |
E143G |
probably null |
Het |
| Larp1 |
A |
T |
11: 57,948,172 (GRCm39) |
E990D |
probably benign |
Het |
| Larp7 |
C |
A |
3: 127,330,614 (GRCm39) |
E568* |
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,217,787 (GRCm39) |
S298R |
probably damaging |
Het |
| Mcm10 |
A |
G |
2: 5,001,913 (GRCm39) |
|
probably null |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,336,546 (GRCm39) |
T1590A |
possibly damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,249,709 (GRCm39) |
H1198Q |
possibly damaging |
Het |
| Ogg1 |
A |
G |
6: 113,305,334 (GRCm39) |
E49G |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Parp3 |
T |
C |
9: 106,352,262 (GRCm39) |
E88G |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,735,965 (GRCm39) |
I156T |
probably benign |
Het |
| Pus7l |
T |
A |
15: 94,425,788 (GRCm39) |
I538F |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,787,466 (GRCm39) |
|
probably null |
Het |
| Slc8a2 |
A |
G |
7: 15,886,824 (GRCm39) |
N656D |
possibly damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Trpv3 |
A |
T |
11: 73,186,281 (GRCm39) |
I691F |
probably damaging |
Het |
| Uba2 |
A |
G |
7: 33,853,907 (GRCm39) |
|
probably null |
Het |
| Usp53 |
A |
C |
3: 122,728,061 (GRCm39) |
S840R |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,743,692 (GRCm39) |
I452F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
| Zfp42 |
T |
C |
8: 43,748,938 (GRCm39) |
R188G |
possibly damaging |
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 |
|
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 |
|
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'- CCCATTAGGCACGCTGAAAC -3'
(R):5'- ACTTAGCATGCTAGTGTGGCC -3'
Sequencing Primer
(F):5'- CCACAAAGGGTAGCATTTGC -3'
(R):5'- ATGCTAGTGTGGCCCCAGAAAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation