Incidental Mutation 'IGL01676:Csrnp3'
| ID |
103648 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csrnp3
|
| Ensembl Gene |
ENSMUSG00000044647 |
| Gene Name |
cysteine-serine-rich nuclear protein 3 |
| Synonyms |
mbu1, CSRNP-3, A330102K23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
IGL01676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
65676111-65861890 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65779336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 16
(I16N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053910]
[ENSMUST00000112394]
[ENSMUST00000112397]
[ENSMUST00000122912]
[ENSMUST00000145598]
[ENSMUST00000176109]
|
| AlphaFold |
P59055 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053910
AA Change: I16N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055719
Gene: ENSMUSG00000044647
AA Change: I16N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
Blast:CXC
|
221 |
268 |
3e-15 |
BLAST |
|
low complexity region
|
342 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112394
AA Change: I4N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108013
Gene: ENSMUSG00000044647
AA Change: I4N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
164 |
N/A |
INTRINSIC |
|
Blast:CXC
|
209 |
256 |
3e-15 |
BLAST |
|
low complexity region
|
330 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112397
AA Change: I16N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135151
Gene: ENSMUSG00000044647
AA Change: I16N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122912
AA Change: I16N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117533
Gene: ENSMUSG00000044647
AA Change: I16N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
52 |
N/A |
INTRINSIC |
|
Pfam:CSRNP_N
|
70 |
291 |
5e-107 |
PFAM |
|
low complexity region
|
342 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129133
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145598
AA Change: I4N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135605
Gene: ENSMUSG00000044647
AA Change: I4N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
164 |
N/A |
INTRINSIC |
|
Blast:CXC
|
209 |
256 |
3e-15 |
BLAST |
|
low complexity region
|
330 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155350
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176109
AA Change: I4N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135019
Gene: ENSMUSG00000044647
AA Change: I4N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
164 |
N/A |
INTRINSIC |
|
Blast:CXC
|
209 |
256 |
3e-15 |
BLAST |
|
low complexity region
|
330 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
388 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development, hematopoiesis and T cell function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
T |
7: 119,307,866 (GRCm39) |
R334S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,825,613 (GRCm39) |
F1075L |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,029,402 (GRCm39) |
V30A |
possibly damaging |
Het |
| Bpifb5 |
A |
G |
2: 154,070,969 (GRCm39) |
N223D |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,274,222 (GRCm39) |
R2228G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,288,196 (GRCm39) |
E1894G |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,101,447 (GRCm39) |
K110E |
probably damaging |
Het |
| Catsperz |
G |
T |
19: 6,902,421 (GRCm39) |
Y24* |
probably null |
Het |
| Clec9a |
T |
G |
6: 129,398,118 (GRCm39) |
S219A |
probably benign |
Het |
| Ddx19a |
A |
G |
8: 111,707,621 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
G |
A |
18: 37,989,241 (GRCm39) |
Q905* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,880,392 (GRCm39) |
M2743T |
possibly damaging |
Het |
| Ears2 |
A |
T |
7: 121,643,781 (GRCm39) |
D392E |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,070,865 (GRCm39) |
|
probably benign |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,323 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,432 (GRCm39) |
K1767R |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,236,756 (GRCm39) |
A1142T |
probably benign |
Het |
| Lpar6 |
A |
G |
14: 73,477,010 (GRCm39) |
N324D |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,933 (GRCm39) |
D237E |
possibly damaging |
Het |
| Oas1h |
G |
T |
5: 121,009,897 (GRCm39) |
G324V |
probably damaging |
Het |
| Pak1 |
T |
G |
7: 97,532,738 (GRCm39) |
D179E |
probably benign |
Het |
| Prop1 |
T |
A |
11: 50,842,956 (GRCm39) |
Q77L |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,501,231 (GRCm39) |
Y184* |
probably null |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Trim67 |
A |
T |
8: 125,541,899 (GRCm39) |
I366F |
possibly damaging |
Het |
| Vmn2r94 |
T |
G |
17: 18,477,272 (GRCm39) |
M380L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,133 (GRCm39) |
N397S |
probably damaging |
Het |
| Zfand3 |
T |
G |
17: 30,354,337 (GRCm39) |
S51R |
possibly damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,624 (GRCm39) |
S197G |
probably benign |
Het |
|
| Other mutations in Csrnp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02427:Csrnp3
|
APN |
2 |
65,708,380 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02558:Csrnp3
|
APN |
2 |
65,852,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Csrnp3
|
APN |
2 |
65,853,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Uncle
|
UTSW |
2 |
65,852,615 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02984:Csrnp3
|
UTSW |
2 |
65,852,553 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0417:Csrnp3
|
UTSW |
2 |
65,849,887 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0709:Csrnp3
|
UTSW |
2 |
65,852,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1340:Csrnp3
|
UTSW |
2 |
65,832,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Csrnp3
|
UTSW |
2 |
65,832,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Csrnp3
|
UTSW |
2 |
65,853,363 (GRCm39) |
missense |
probably null |
1.00 |
|
R1997:Csrnp3
|
UTSW |
2 |
65,779,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Csrnp3
|
UTSW |
2 |
65,852,375 (GRCm39) |
nonsense |
probably null |
|
|
R5233:Csrnp3
|
UTSW |
2 |
65,852,684 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5340:Csrnp3
|
UTSW |
2 |
65,852,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6157:Csrnp3
|
UTSW |
2 |
65,779,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6781:Csrnp3
|
UTSW |
2 |
65,852,615 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6974:Csrnp3
|
UTSW |
2 |
65,779,408 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7120:Csrnp3
|
UTSW |
2 |
65,853,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Csrnp3
|
UTSW |
2 |
65,779,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8250:Csrnp3
|
UTSW |
2 |
65,852,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8478:Csrnp3
|
UTSW |
2 |
65,708,400 (GRCm39) |
splice site |
probably null |
|
|
R8899:Csrnp3
|
UTSW |
2 |
65,852,987 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9396:Csrnp3
|
UTSW |
2 |
65,832,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Csrnp3
|
UTSW |
2 |
65,852,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-01-21 |
Incidental Mutation