Incidental Mutation 'IGL02282:Ctdspl2'
ID |
289897 |
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 # |
IGL02282
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
121786482-121844123 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 121807959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036647]
[ENSMUST00000110572]
[ENSMUST00000110574]
[ENSMUST00000110578]
|
AlphaFold |
Q8BG15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036647
|
SMART Domains |
Protein: ENSMUSP00000047543 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110572
|
SMART Domains |
Protein: ENSMUSP00000106201 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
214 |
358 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110574
|
SMART Domains |
Protein: ENSMUSP00000106203 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110578
|
SMART Domains |
Protein: ENSMUSP00000106207 Gene: ENSMUSG00000033411
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,983,351 (GRCm39) |
D1545G |
probably damaging |
Het |
Baiap3 |
A |
C |
17: 25,468,351 (GRCm39) |
D234E |
probably benign |
Het |
Bltp2 |
C |
T |
11: 78,175,054 (GRCm39) |
P1730S |
probably benign |
Het |
Cand1 |
T |
A |
10: 119,046,614 (GRCm39) |
T959S |
probably benign |
Het |
Cyp2a4 |
A |
C |
7: 26,008,472 (GRCm39) |
M205L |
probably benign |
Het |
Dlx5 |
G |
A |
6: 6,881,762 (GRCm39) |
A42V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,682,669 (GRCm39) |
I267T |
possibly damaging |
Het |
Dnajb6 |
A |
G |
5: 29,957,416 (GRCm39) |
D66G |
probably damaging |
Het |
Fgf8 |
T |
C |
19: 45,725,529 (GRCm39) |
H201R |
possibly damaging |
Het |
Gpc1 |
A |
G |
1: 92,785,689 (GRCm39) |
K460E |
probably damaging |
Het |
Gzme |
A |
T |
14: 56,355,826 (GRCm39) |
L162Q |
probably damaging |
Het |
Ik |
G |
A |
18: 36,878,697 (GRCm39) |
G17D |
probably damaging |
Het |
Il4 |
G |
A |
11: 53,509,001 (GRCm39) |
T59M |
probably damaging |
Het |
Kcnh3 |
G |
T |
15: 99,125,924 (GRCm39) |
|
probably null |
Het |
Mill1 |
G |
T |
7: 17,997,129 (GRCm39) |
|
probably null |
Het |
Npbwr1 |
A |
T |
1: 5,987,184 (GRCm39) |
M110K |
possibly damaging |
Het |
Opalin |
A |
T |
19: 41,054,943 (GRCm39) |
S84T |
probably benign |
Het |
Or10w1 |
T |
A |
19: 13,632,622 (GRCm39) |
D276E |
probably damaging |
Het |
Or7g30 |
A |
G |
9: 19,352,914 (GRCm39) |
Y235C |
probably benign |
Het |
Or8b35 |
A |
T |
9: 37,904,318 (GRCm39) |
I177F |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,556,881 (GRCm39) |
L737P |
probably damaging |
Het |
Phip |
G |
A |
9: 82,795,743 (GRCm39) |
S626L |
probably benign |
Het |
Ppl |
T |
C |
16: 4,919,322 (GRCm39) |
D435G |
probably damaging |
Het |
Prss37 |
A |
G |
6: 40,492,317 (GRCm39) |
V178A |
possibly damaging |
Het |
Ptpn7 |
A |
G |
1: 135,062,572 (GRCm39) |
I104V |
probably damaging |
Het |
Ptprn |
A |
G |
1: 75,229,800 (GRCm39) |
Y700H |
probably damaging |
Het |
Rab11fip5 |
T |
A |
6: 85,314,534 (GRCm39) |
T555S |
probably damaging |
Het |
Rfwd3 |
A |
T |
8: 112,020,614 (GRCm39) |
|
probably benign |
Het |
Robo1 |
G |
A |
16: 72,539,026 (GRCm39) |
R41H |
probably damaging |
Het |
Rps3 |
A |
G |
7: 99,128,479 (GRCm39) |
|
probably null |
Het |
Ruvbl2 |
G |
A |
7: 45,074,589 (GRCm39) |
T183I |
probably benign |
Het |
Sema4c |
A |
T |
1: 36,589,284 (GRCm39) |
|
probably null |
Het |
Shoc1 |
A |
C |
4: 59,111,114 (GRCm39) |
Y53D |
unknown |
Het |
Taar8b |
T |
A |
10: 23,967,453 (GRCm39) |
K247I |
possibly damaging |
Het |
Tacr3 |
A |
T |
3: 134,566,834 (GRCm39) |
I236F |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,022,081 (GRCm39) |
I1168T |
probably damaging |
Het |
Ttc9b |
A |
T |
7: 27,355,336 (GRCm39) |
D202V |
probably damaging |
Het |
Vmn2r26 |
T |
G |
6: 124,038,584 (GRCm39) |
C720G |
probably damaging |
Het |
Vmn2r37 |
A |
G |
7: 9,209,761 (GRCm39) |
S584P |
probably benign |
Het |
Wnk2 |
T |
A |
13: 49,221,601 (GRCm39) |
D1208V |
probably damaging |
Het |
Zfp988 |
T |
A |
4: 147,416,125 (GRCm39) |
C186* |
probably null |
Het |
Zp3 |
A |
G |
5: 136,013,205 (GRCm39) |
N179S |
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 |
|
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 |
IGL03285:Ctdspl2
|
APN |
2 |
121,817,480 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |