Incidental Mutation 'IGL03285:Ctdspl2'
| ID |
415681 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctdspl2
|
| Ensembl Gene |
ENSMUSG00000033411 |
| Gene Name |
CTD small phosphatase like 2 |
| Synonyms |
SCP4, D2Ertd485e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL03285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121786482-121844123 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121817480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 176
(Y176H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036647]
[ENSMUST00000110572]
[ENSMUST00000110574]
[ENSMUST00000110578]
|
| AlphaFold |
Q8BG15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036647
AA Change: Y247H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047543
Gene: ENSMUSG00000033411
AA Change: Y247H
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110572
AA Change: Y176H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106201
Gene: ENSMUSG00000033411
AA Change: Y176H
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
214 |
358 |
4.19e-71 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110574
AA Change: Y247H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106203
Gene: ENSMUSG00000033411
AA Change: Y247H
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110578
AA Change: Y246H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106207
Gene: ENSMUSG00000033411
AA Change: Y246H
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
284 |
428 |
4.19e-71 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128883
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140570
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Atp7a |
A |
T |
X: 105,153,381 (GRCm39) |
E1094D |
probably benign |
Het |
| Carf |
A |
G |
1: 60,185,313 (GRCm39) |
T453A |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,897,597 (GRCm39) |
N229S |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,221,535 (GRCm39) |
N1213I |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,892,557 (GRCm39) |
R726H |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,984,416 (GRCm39) |
H69R |
possibly damaging |
Het |
| Gm1527 |
A |
T |
3: 28,974,566 (GRCm39) |
I460F |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,969,318 (GRCm39) |
I501T |
possibly damaging |
Het |
| Igfl3 |
T |
C |
7: 17,914,172 (GRCm39) |
|
probably benign |
Het |
| Igkv2-109 |
T |
C |
6: 68,279,902 (GRCm39) |
I41T |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,109,510 (GRCm39) |
K236N |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,157 (GRCm39) |
T174S |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 137,996,301 (GRCm39) |
T93A |
probably damaging |
Het |
| Lamc1 |
G |
T |
1: 153,103,431 (GRCm39) |
N1378K |
possibly damaging |
Het |
| Ldlrad2 |
T |
C |
4: 137,300,955 (GRCm39) |
M28V |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Met |
T |
C |
6: 17,553,336 (GRCm39) |
S1041P |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,205 (GRCm39) |
L192P |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,031,096 (GRCm39) |
S1507P |
probably benign |
Het |
| Slc7a2 |
A |
G |
8: 41,368,030 (GRCm39) |
D598G |
possibly damaging |
Het |
| Tdo2 |
A |
G |
3: 81,866,096 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
T |
C |
5: 87,388,734 (GRCm39) |
D493G |
probably damaging |
Het |
| Vps50 |
G |
A |
6: 3,555,011 (GRCm39) |
V395I |
possibly damaging |
Het |
|
| Other mutations in Ctdspl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Ctdspl2
|
APN |
2 |
121,799,767 (GRCm39) |
splice site |
probably benign |
|
|
IGL02282:Ctdspl2
|
APN |
2 |
121,807,959 (GRCm39) |
splice site |
probably benign |
|
|
IGL02934:Ctdspl2
|
APN |
2 |
121,809,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Ctdspl2
|
APN |
2 |
121,809,394 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0105:Ctdspl2
|
UTSW |
2 |
121,807,801 (GRCm39) |
splice site |
probably benign |
|
|
R0521:Ctdspl2
|
UTSW |
2 |
121,837,368 (GRCm39) |
nonsense |
probably null |
|
|
R1406:Ctdspl2
|
UTSW |
2 |
121,837,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Ctdspl2
|
UTSW |
2 |
121,837,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Ctdspl2
|
UTSW |
2 |
121,834,410 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1466:Ctdspl2
|
UTSW |
2 |
121,834,410 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1468:Ctdspl2
|
UTSW |
2 |
121,811,762 (GRCm39) |
missense |
probably benign |
|
|
R1468:Ctdspl2
|
UTSW |
2 |
121,811,762 (GRCm39) |
missense |
probably benign |
|
|
R1584:Ctdspl2
|
UTSW |
2 |
121,834,410 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2199:Ctdspl2
|
UTSW |
2 |
121,817,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2367:Ctdspl2
|
UTSW |
2 |
121,817,499 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4868:Ctdspl2
|
UTSW |
2 |
121,823,879 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5158:Ctdspl2
|
UTSW |
2 |
121,811,774 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5338:Ctdspl2
|
UTSW |
2 |
121,811,793 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5391:Ctdspl2
|
UTSW |
2 |
121,834,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5914:Ctdspl2
|
UTSW |
2 |
121,809,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Ctdspl2
|
UTSW |
2 |
121,819,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6196:Ctdspl2
|
UTSW |
2 |
121,809,373 (GRCm39) |
splice site |
probably null |
|
|
R6676:Ctdspl2
|
UTSW |
2 |
121,837,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Ctdspl2
|
UTSW |
2 |
121,837,362 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8170:Ctdspl2
|
UTSW |
2 |
121,837,423 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9086:Ctdspl2
|
UTSW |
2 |
121,838,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9105:Ctdspl2
|
UTSW |
2 |
121,837,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Ctdspl2
|
UTSW |
2 |
121,841,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0064:Ctdspl2
|
UTSW |
2 |
121,834,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation