Incidental Mutation 'IGL00788:Cip2a'
ID |
9332 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cip2a
|
Ensembl Gene |
ENSMUSG00000033031 |
Gene Name |
cell proliferation regulating inhibitor of protein phosphatase 2A |
Synonyms |
C330027C09Rik, Cip2a |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
IGL00788
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
48814548-48840072 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 48829432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113075
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048374]
[ENSMUST00000117994]
|
AlphaFold |
Q8BWY9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048374
|
SMART Domains |
Protein: ENSMUSP00000044714 Gene: ENSMUSG00000033031
Domain | Start | End | E-Value | Type |
SCOP:d1jdha_
|
47 |
309 |
3e-4 |
SMART |
low complexity region
|
439 |
450 |
N/A |
INTRINSIC |
coiled coil region
|
635 |
887 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117994
|
SMART Domains |
Protein: ENSMUSP00000113075 Gene: ENSMUSG00000033031
Domain | Start | End | E-Value | Type |
SCOP:d1jdha_
|
47 |
309 |
2e-4 |
SMART |
low complexity region
|
439 |
450 |
N/A |
INTRINSIC |
coiled coil region
|
635 |
887 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123975
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133754
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele display oligozoospermia, small epididymis and impaired spermatogonial progenitor cell maintenance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,110,480 (GRCm39) |
E3061G |
probably damaging |
Het |
Armh3 |
C |
T |
19: 45,920,789 (GRCm39) |
|
probably null |
Het |
Casd1 |
A |
G |
6: 4,624,400 (GRCm39) |
T398A |
probably benign |
Het |
Ceacam2 |
C |
T |
7: 25,237,998 (GRCm39) |
|
probably null |
Het |
Chst9 |
A |
G |
18: 15,586,087 (GRCm39) |
Y159H |
probably benign |
Het |
Cops4 |
A |
G |
5: 100,681,421 (GRCm39) |
E152G |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Dpy19l1 |
A |
G |
9: 24,373,864 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
T |
A |
5: 105,198,863 (GRCm39) |
E17D |
probably benign |
Het |
Grik5 |
G |
A |
7: 24,764,818 (GRCm39) |
H108Y |
probably damaging |
Het |
Gsap |
G |
A |
5: 21,426,303 (GRCm39) |
|
probably benign |
Het |
Gsap |
G |
A |
5: 21,459,022 (GRCm39) |
V496M |
probably damaging |
Het |
Hectd1 |
C |
T |
12: 51,795,571 (GRCm39) |
S2286N |
probably damaging |
Het |
Hgf |
A |
T |
5: 16,803,228 (GRCm39) |
Q380L |
probably damaging |
Het |
Hsd11b1 |
C |
T |
1: 192,923,766 (GRCm39) |
M1I |
probably null |
Het |
Kank2 |
A |
G |
9: 21,691,775 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
G |
A |
16: 19,775,812 (GRCm39) |
L249F |
probably benign |
Het |
Lrba |
A |
T |
3: 86,234,992 (GRCm39) |
M846L |
probably damaging |
Het |
Macrod2 |
T |
A |
2: 142,052,069 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,852,227 (GRCm39) |
S821T |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,076,241 (GRCm39) |
T819A |
probably benign |
Het |
Neb |
A |
T |
2: 52,095,744 (GRCm39) |
|
probably benign |
Het |
Pcyt1b |
T |
C |
X: 92,778,515 (GRCm39) |
F255L |
probably benign |
Het |
Rttn |
T |
A |
18: 88,990,633 (GRCm39) |
S57T |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
Slc25a21 |
A |
T |
12: 56,760,597 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,325,487 (GRCm39) |
|
probably benign |
Het |
Spats2l |
T |
A |
1: 57,924,864 (GRCm39) |
N87K |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,918,673 (GRCm39) |
D99G |
probably damaging |
Het |
Sytl2 |
T |
A |
7: 90,031,906 (GRCm39) |
|
probably benign |
Het |
Trim13 |
T |
C |
14: 61,843,119 (GRCm39) |
F379L |
probably benign |
Het |
|
Other mutations in Cip2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00402:Cip2a
|
APN |
16 |
48,822,178 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01343:Cip2a
|
APN |
16 |
48,833,551 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01348:Cip2a
|
APN |
16 |
48,833,551 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01876:Cip2a
|
APN |
16 |
48,822,041 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02255:Cip2a
|
APN |
16 |
48,831,176 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02515:Cip2a
|
APN |
16 |
48,826,096 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL03295:Cip2a
|
APN |
16 |
48,814,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R0020:Cip2a
|
UTSW |
16 |
48,821,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R0020:Cip2a
|
UTSW |
16 |
48,821,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R0031:Cip2a
|
UTSW |
16 |
48,837,736 (GRCm39) |
missense |
probably benign |
0.14 |
R0612:Cip2a
|
UTSW |
16 |
48,819,402 (GRCm39) |
missense |
probably benign |
0.04 |
R1187:Cip2a
|
UTSW |
16 |
48,820,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R1707:Cip2a
|
UTSW |
16 |
48,838,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Cip2a
|
UTSW |
16 |
48,837,849 (GRCm39) |
missense |
probably benign |
0.31 |
R1715:Cip2a
|
UTSW |
16 |
48,826,082 (GRCm39) |
missense |
probably benign |
0.18 |
R2000:Cip2a
|
UTSW |
16 |
48,835,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R2002:Cip2a
|
UTSW |
16 |
48,826,214 (GRCm39) |
splice site |
probably benign |
|
R2360:Cip2a
|
UTSW |
16 |
48,837,828 (GRCm39) |
nonsense |
probably null |
|
R4093:Cip2a
|
UTSW |
16 |
48,821,339 (GRCm39) |
splice site |
probably benign |
|
R4292:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
R4293:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
R4295:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
R4726:Cip2a
|
UTSW |
16 |
48,834,433 (GRCm39) |
missense |
probably benign |
0.02 |
R4925:Cip2a
|
UTSW |
16 |
48,836,726 (GRCm39) |
critical splice donor site |
probably null |
|
R5735:Cip2a
|
UTSW |
16 |
48,837,856 (GRCm39) |
critical splice donor site |
probably null |
|
R5893:Cip2a
|
UTSW |
16 |
48,817,863 (GRCm39) |
missense |
probably benign |
|
R6146:Cip2a
|
UTSW |
16 |
48,814,692 (GRCm39) |
nonsense |
probably null |
|
R6649:Cip2a
|
UTSW |
16 |
48,837,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R7235:Cip2a
|
UTSW |
16 |
48,821,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R7300:Cip2a
|
UTSW |
16 |
48,834,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R7325:Cip2a
|
UTSW |
16 |
48,826,184 (GRCm39) |
missense |
probably benign |
0.32 |
R7365:Cip2a
|
UTSW |
16 |
48,822,016 (GRCm39) |
missense |
probably benign |
0.35 |
R7414:Cip2a
|
UTSW |
16 |
48,821,998 (GRCm39) |
missense |
probably benign |
0.21 |
R7715:Cip2a
|
UTSW |
16 |
48,834,347 (GRCm39) |
missense |
probably damaging |
0.99 |
R7780:Cip2a
|
UTSW |
16 |
48,822,023 (GRCm39) |
nonsense |
probably null |
|
R8156:Cip2a
|
UTSW |
16 |
48,817,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Cip2a
|
UTSW |
16 |
48,821,436 (GRCm39) |
nonsense |
probably null |
|
R8514:Cip2a
|
UTSW |
16 |
48,817,810 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8701:Cip2a
|
UTSW |
16 |
48,827,504 (GRCm39) |
nonsense |
probably null |
|
R9077:Cip2a
|
UTSW |
16 |
48,827,511 (GRCm39) |
missense |
probably benign |
0.06 |
R9326:Cip2a
|
UTSW |
16 |
48,834,235 (GRCm39) |
critical splice donor site |
probably null |
|
R9575:Cip2a
|
UTSW |
16 |
48,838,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-12-06 |