Incidental Mutation 'IGL02558:Csrnp3'
ID |
298393 |
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 # |
IGL02558
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
65676111-65861890 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 65852573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 322
(E322K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135019
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053910]
[ENSMUST00000112394]
[ENSMUST00000112397]
[ENSMUST00000122912]
[ENSMUST00000145598]
[ENSMUST00000176109]
|
AlphaFold |
P59055 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053910
AA Change: E334K
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000055719 Gene: ENSMUSG00000044647 AA Change: E334K
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 |
probably damaging
Transcript: ENSMUST00000112394
AA Change: E322K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108013 Gene: ENSMUSG00000044647 AA Change: E322K
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 benign
Transcript: ENSMUST00000112397
|
SMART Domains |
Protein: ENSMUSP00000135151 Gene: ENSMUSG00000044647
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
52 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122912
AA Change: E334K
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000117533 Gene: ENSMUSG00000044647 AA Change: E334K
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 |
probably damaging
Transcript: ENSMUST00000145598
AA Change: E322K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000135605 Gene: ENSMUSG00000044647 AA Change: E322K
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: ENSMUST00000176109
AA Change: E322K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000135019 Gene: ENSMUSG00000044647 AA Change: E322K
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
C |
5: 3,632,194 (GRCm39) |
*25C |
probably null |
Het |
Abca13 |
T |
C |
11: 9,349,387 (GRCm39) |
Y3654H |
probably damaging |
Het |
Ankle1 |
T |
C |
8: 71,861,636 (GRCm39) |
F438S |
probably damaging |
Het |
Atp10a |
A |
T |
7: 58,469,390 (GRCm39) |
R1080S |
probably damaging |
Het |
Ccdc51 |
A |
T |
9: 108,921,252 (GRCm39) |
N380Y |
probably damaging |
Het |
Ccr8 |
A |
T |
9: 119,923,724 (GRCm39) |
I280F |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,107,786 (GRCm39) |
T535A |
probably benign |
Het |
Cep162 |
G |
T |
9: 87,107,779 (GRCm39) |
T537N |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,844,964 (GRCm39) |
D35G |
probably benign |
Het |
Cmip |
G |
A |
8: 118,175,827 (GRCm39) |
S530N |
probably damaging |
Het |
Col9a3 |
A |
T |
2: 180,248,599 (GRCm39) |
|
probably null |
Het |
Csf3r |
T |
C |
4: 125,931,928 (GRCm39) |
|
probably benign |
Het |
Csk |
C |
T |
9: 57,537,546 (GRCm39) |
E123K |
probably benign |
Het |
Ddx11 |
A |
T |
17: 66,455,667 (GRCm39) |
I663F |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,996,336 (GRCm39) |
M2667L |
possibly damaging |
Het |
Foxred1 |
T |
C |
9: 35,121,429 (GRCm39) |
K40E |
probably damaging |
Het |
Gata2 |
C |
T |
6: 88,176,762 (GRCm39) |
P74S |
probably benign |
Het |
Gdf10 |
T |
G |
14: 33,645,937 (GRCm39) |
C29G |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,482,848 (GRCm39) |
E3133G |
probably benign |
Het |
Ints8 |
G |
A |
4: 11,218,771 (GRCm39) |
R784W |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 102,982,144 (GRCm39) |
E1392G |
probably damaging |
Het |
Muc19 |
T |
C |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
Myom2 |
A |
T |
8: 15,164,237 (GRCm39) |
D1044V |
probably benign |
Het |
Nphp4 |
G |
T |
4: 152,639,988 (GRCm39) |
R958L |
probably damaging |
Het |
Nup205 |
C |
T |
6: 35,166,859 (GRCm39) |
P293S |
probably damaging |
Het |
Or10ag60 |
T |
C |
2: 87,437,903 (GRCm39) |
I57T |
probably benign |
Het |
Or1e17 |
A |
T |
11: 73,831,651 (GRCm39) |
H193L |
probably benign |
Het |
Plxdc2 |
A |
G |
2: 16,674,409 (GRCm39) |
|
probably benign |
Het |
Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
Siglec1 |
G |
T |
2: 130,916,915 (GRCm39) |
S1113R |
possibly damaging |
Het |
Sirpa |
A |
G |
2: 129,471,989 (GRCm39) |
E472G |
probably damaging |
Het |
Slc39a4 |
G |
T |
15: 76,498,403 (GRCm39) |
L345M |
probably damaging |
Het |
Snx27 |
C |
T |
3: 94,410,188 (GRCm39) |
R496Q |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,527,388 (GRCm39) |
H1215R |
possibly damaging |
Het |
Stau1 |
A |
G |
2: 166,792,768 (GRCm39) |
Y371H |
probably benign |
Het |
Sult2a1 |
A |
C |
7: 13,566,520 (GRCm39) |
W152G |
probably benign |
Het |
Syt16 |
A |
T |
12: 74,281,832 (GRCm39) |
K319* |
probably null |
Het |
Tcf7 |
T |
A |
11: 52,144,797 (GRCm39) |
|
probably benign |
Het |
Tfdp1 |
A |
G |
8: 13,419,546 (GRCm39) |
N92D |
possibly damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
Other mutations in Csrnp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01676:Csrnp3
|
APN |
2 |
65,779,336 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02427:Csrnp3
|
APN |
2 |
65,708,380 (GRCm39) |
utr 5 prime |
probably benign |
|
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 |
2015-04-16 |