Incidental Mutation 'R3761:Ct45a'
ID |
270546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ct45a
|
Ensembl Gene |
ENSMUSG00000064016 |
Gene Name |
cancer/testis antigen 45 |
Synonyms |
LOC270599, Gm648 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3761 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
55589234-55594966 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55590568 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 78
(V78I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079908
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081133]
|
AlphaFold |
Q3UJ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081133
AA Change: V78I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000079908 Gene: ENSMUSG00000064016 AA Change: V78I
Domain | Start | End | E-Value | Type |
Pfam:INT_SG_DDX_CT_C
|
136 |
198 |
4.9e-31 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2cl |
A |
G |
9: 110,727,202 (GRCm39) |
T923A |
probably damaging |
Het |
Ccdc91 |
A |
T |
6: 147,464,200 (GRCm39) |
D216V |
unknown |
Het |
Clstn3 |
A |
G |
6: 124,434,835 (GRCm39) |
V360A |
possibly damaging |
Het |
Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
Eif3e |
C |
T |
15: 43,124,480 (GRCm39) |
R346H |
probably damaging |
Het |
Esrp2 |
T |
C |
8: 106,860,254 (GRCm39) |
D301G |
probably damaging |
Het |
Fam174a |
G |
T |
1: 95,241,971 (GRCm39) |
V144F |
probably damaging |
Het |
Fbxo31 |
A |
T |
8: 122,287,169 (GRCm39) |
W135R |
possibly damaging |
Het |
Heatr5b |
A |
G |
17: 79,137,071 (GRCm39) |
S150P |
probably damaging |
Het |
Il16 |
A |
G |
7: 83,300,093 (GRCm39) |
L400S |
possibly damaging |
Het |
Or10d1c |
A |
T |
9: 38,893,662 (GRCm39) |
I226N |
possibly damaging |
Het |
Ryr3 |
A |
G |
2: 112,585,258 (GRCm39) |
F2776S |
probably benign |
Het |
Sema3d |
T |
C |
5: 12,621,004 (GRCm39) |
Y537H |
probably damaging |
Het |
Sh3pxd2b |
T |
C |
11: 32,372,750 (GRCm39) |
V639A |
probably benign |
Het |
Slc39a10 |
A |
G |
1: 46,851,285 (GRCm39) |
V735A |
possibly damaging |
Het |
Slc45a2 |
T |
A |
15: 11,012,800 (GRCm39) |
Y268N |
probably benign |
Het |
Tmco5 |
A |
G |
2: 116,717,787 (GRCm39) |
|
probably null |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,631,085 (GRCm39) |
H649Q |
probably damaging |
Het |
|
Other mutations in Ct45a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02889:Ct45a
|
APN |
X |
55,592,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R0626:Ct45a
|
UTSW |
X |
55,590,399 (GRCm39) |
missense |
probably benign |
0.00 |
R3759:Ct45a
|
UTSW |
X |
55,590,568 (GRCm39) |
missense |
probably benign |
|
R3760:Ct45a
|
UTSW |
X |
55,590,568 (GRCm39) |
missense |
probably benign |
|
R3763:Ct45a
|
UTSW |
X |
55,590,568 (GRCm39) |
missense |
probably benign |
|
R4212:Ct45a
|
UTSW |
X |
55,590,568 (GRCm39) |
missense |
probably benign |
|
R4213:Ct45a
|
UTSW |
X |
55,590,568 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTACGTCGTCCAAAGCGTC -3'
(R):5'- AGAGCTCAGCCTTGTCACAG -3'
Sequencing Primer
(F):5'- CAAAGCGTCGGATTTCTGTCATCAG -3'
(R):5'- AGCCTTGTCACAGCTCAGC -3'
|
Posted On |
2015-03-18 |