Incidental Mutation 'IGL02526:Caprin1'
ID |
297120 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Caprin1
|
Ensembl Gene |
ENSMUSG00000027184 |
Gene Name |
cell cycle associated protein 1 |
Synonyms |
caprin-1, RNG105, Gpiap1, MMGPIP137 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.591)
|
Stock # |
IGL02526
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
103593292-103627946 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 103605948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028607]
[ENSMUST00000111147]
[ENSMUST00000145606]
|
AlphaFold |
Q60865 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028607
|
SMART Domains |
Protein: ENSMUSP00000028607 Gene: ENSMUSG00000027184
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
coiled coil region
|
52 |
93 |
N/A |
INTRINSIC |
low complexity region
|
176 |
186 |
N/A |
INTRINSIC |
low complexity region
|
271 |
280 |
N/A |
INTRINSIC |
low complexity region
|
309 |
322 |
N/A |
INTRINSIC |
low complexity region
|
326 |
335 |
N/A |
INTRINSIC |
Pfam:Caprin-1_C
|
365 |
681 |
1.4e-173 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111147
|
SMART Domains |
Protein: ENSMUSP00000106777 Gene: ENSMUSG00000027184
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
coiled coil region
|
52 |
93 |
N/A |
INTRINSIC |
low complexity region
|
176 |
186 |
N/A |
INTRINSIC |
low complexity region
|
271 |
280 |
N/A |
INTRINSIC |
low complexity region
|
309 |
322 |
N/A |
INTRINSIC |
low complexity region
|
326 |
335 |
N/A |
INTRINSIC |
Pfam:Caprin-1_C
|
365 |
680 |
2.4e-135 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141750
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143188
|
SMART Domains |
Protein: ENSMUSP00000114423 Gene: ENSMUSG00000027184
Domain | Start | End | E-Value | Type |
low complexity region
|
84 |
93 |
N/A |
INTRINSIC |
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
low complexity region
|
139 |
148 |
N/A |
INTRINSIC |
Pfam:Caprin-1_C
|
178 |
254 |
4.2e-22 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149175
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145697
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145606
|
SMART Domains |
Protein: ENSMUSP00000119327 Gene: ENSMUSG00000027184
Domain | Start | End | E-Value | Type |
Pfam:Caprin-1_C
|
1 |
33 |
2.9e-11 |
PFAM |
Pfam:Caprin-1_C
|
32 |
82 |
1.4e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143349
|
SMART Domains |
Protein: ENSMUSP00000117733 Gene: ENSMUSG00000027184
Domain | Start | End | E-Value | Type |
Pfam:Caprin-1_C
|
1 |
202 |
8.2e-95 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased fetal size, bent posture, cyanosis, respiratory failure, and neonatal lethality with impaired neuronal network development and reduced dendritic localization of sodium potassium ATPase subunit isoform mRNAs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
G |
5: 121,784,923 (GRCm39) |
V231A |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,297,509 (GRCm39) |
|
probably benign |
Het |
Ano2 |
G |
A |
6: 125,849,714 (GRCm39) |
|
probably null |
Het |
Aspm |
A |
G |
1: 139,417,457 (GRCm39) |
E2818G |
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,793,779 (GRCm39) |
H292R |
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,143,353 (GRCm39) |
T430M |
possibly damaging |
Het |
Fgd6 |
A |
G |
10: 93,936,373 (GRCm39) |
N902S |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,639,847 (GRCm39) |
I66T |
probably damaging |
Het |
H13 |
T |
A |
2: 152,530,602 (GRCm39) |
F158L |
probably damaging |
Het |
Kcnb2 |
A |
G |
1: 15,780,979 (GRCm39) |
E617G |
probably damaging |
Het |
Kcnh7 |
T |
C |
2: 62,680,781 (GRCm39) |
S269G |
possibly damaging |
Het |
Krit1 |
T |
A |
5: 3,872,103 (GRCm39) |
I376N |
probably damaging |
Het |
Lonrf2 |
T |
A |
1: 38,839,791 (GRCm39) |
M435L |
probably benign |
Het |
Map2 |
A |
T |
1: 66,419,876 (GRCm39) |
D69V |
possibly damaging |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Myh3 |
C |
T |
11: 66,978,371 (GRCm39) |
P453S |
probably benign |
Het |
Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
Pi4k2b |
T |
C |
5: 52,925,081 (GRCm39) |
F442L |
probably damaging |
Het |
Pla2g12b |
T |
A |
10: 59,252,275 (GRCm39) |
C49S |
probably damaging |
Het |
Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
Prmt8 |
A |
C |
6: 127,688,786 (GRCm39) |
S195A |
probably damaging |
Het |
Pwp1 |
T |
A |
10: 85,717,967 (GRCm39) |
|
probably null |
Het |
Rxfp1 |
C |
A |
3: 79,578,153 (GRCm39) |
|
probably null |
Het |
Skor1 |
A |
T |
9: 63,053,159 (GRCm39) |
M270K |
probably damaging |
Het |
Slc12a4 |
T |
C |
8: 106,676,438 (GRCm39) |
N495D |
possibly damaging |
Het |
Slc26a3 |
T |
C |
12: 31,507,095 (GRCm39) |
V350A |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,147,463 (GRCm39) |
V430D |
probably damaging |
Het |
Slit2 |
C |
A |
5: 48,461,565 (GRCm39) |
C1537* |
probably null |
Het |
Tas2r135 |
A |
T |
6: 42,383,214 (GRCm39) |
H251L |
probably damaging |
Het |
Tbr1 |
T |
C |
2: 61,642,042 (GRCm39) |
F436L |
probably benign |
Het |
Them6 |
A |
T |
15: 74,593,504 (GRCm39) |
T121S |
possibly damaging |
Het |
Tmem145 |
G |
A |
7: 25,007,657 (GRCm39) |
M221I |
probably benign |
Het |
Trrap |
T |
C |
5: 144,761,360 (GRCm39) |
V2300A |
probably benign |
Het |
Usf3 |
C |
A |
16: 44,040,674 (GRCm39) |
A1718D |
possibly damaging |
Het |
Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wnt9a |
T |
C |
11: 59,219,331 (GRCm39) |
F119S |
probably damaging |
Het |
Zc3h7b |
G |
A |
15: 81,677,338 (GRCm39) |
G880S |
probably benign |
Het |
|
Other mutations in Caprin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01356:Caprin1
|
APN |
2 |
103,605,801 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01369:Caprin1
|
APN |
2 |
103,599,210 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02054:Caprin1
|
APN |
2 |
103,602,143 (GRCm39) |
splice site |
probably null |
|
IGL02260:Caprin1
|
APN |
2 |
103,609,714 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03405:Caprin1
|
APN |
2 |
103,609,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R0027:Caprin1
|
UTSW |
2 |
103,605,925 (GRCm39) |
unclassified |
probably benign |
|
R0396:Caprin1
|
UTSW |
2 |
103,599,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R0603:Caprin1
|
UTSW |
2 |
103,627,146 (GRCm39) |
missense |
probably benign |
0.01 |
R1406:Caprin1
|
UTSW |
2 |
103,606,332 (GRCm39) |
missense |
probably benign |
0.39 |
R1406:Caprin1
|
UTSW |
2 |
103,606,332 (GRCm39) |
missense |
probably benign |
0.39 |
R1558:Caprin1
|
UTSW |
2 |
103,606,332 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1657:Caprin1
|
UTSW |
2 |
103,599,851 (GRCm39) |
missense |
probably damaging |
0.99 |
R2945:Caprin1
|
UTSW |
2 |
103,603,154 (GRCm39) |
missense |
probably benign |
0.04 |
R3946:Caprin1
|
UTSW |
2 |
103,627,111 (GRCm39) |
missense |
probably damaging |
0.99 |
R5208:Caprin1
|
UTSW |
2 |
103,599,778 (GRCm39) |
critical splice donor site |
probably null |
|
R6108:Caprin1
|
UTSW |
2 |
103,606,362 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6603:Caprin1
|
UTSW |
2 |
103,605,856 (GRCm39) |
missense |
probably benign |
0.01 |
R7247:Caprin1
|
UTSW |
2 |
103,609,819 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7338:Caprin1
|
UTSW |
2 |
103,609,768 (GRCm39) |
missense |
probably benign |
0.01 |
R7624:Caprin1
|
UTSW |
2 |
103,603,022 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7749:Caprin1
|
UTSW |
2 |
103,602,099 (GRCm39) |
missense |
probably benign |
0.03 |
R7946:Caprin1
|
UTSW |
2 |
103,603,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R8304:Caprin1
|
UTSW |
2 |
103,599,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Caprin1
|
UTSW |
2 |
103,613,526 (GRCm39) |
nonsense |
probably null |
|
R8547:Caprin1
|
UTSW |
2 |
103,599,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R8549:Caprin1
|
UTSW |
2 |
103,599,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R8782:Caprin1
|
UTSW |
2 |
103,603,133 (GRCm39) |
missense |
probably benign |
0.06 |
R8946:Caprin1
|
UTSW |
2 |
103,608,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Caprin1
|
UTSW |
2 |
103,603,390 (GRCm39) |
missense |
probably benign |
0.00 |
R9758:Caprin1
|
UTSW |
2 |
103,606,283 (GRCm39) |
missense |
possibly damaging |
0.70 |
Z1177:Caprin1
|
UTSW |
2 |
103,606,279 (GRCm39) |
missense |
probably null |
1.00 |
|
Posted On |
2015-04-16 |