Incidental Mutation 'IGL02984:Csrnp3'
ID |
453258 |
Institutional Source |
Beutler Lab
|
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 # |
IGL02984 (G1)
|
Quality Score |
120 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
65676111-65861890 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65852553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 315
(D315G)
|
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: D327G
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000055719 Gene: ENSMUSG00000044647 AA Change: D327G
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 benign
Transcript: ENSMUST00000112394
AA Change: D315G
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108013 Gene: ENSMUSG00000044647 AA Change: D315G
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: D327G
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117533 Gene: ENSMUSG00000044647 AA Change: D327G
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 benign
Transcript: ENSMUST00000145598
AA Change: D315G
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135605 Gene: ENSMUSG00000044647 AA Change: D315G
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: ENSMUST00000176109
AA Change: D315G
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135019 Gene: ENSMUSG00000044647 AA Change: D315G
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 |
|
Meta Mutation Damage Score |
0.2330 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
100% (43/43) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAATTCAATCCTATCCGTGTCCG -3'
(R):5'- CTCCGAGCCCTTCTACAAAG -3'
Sequencing Primer
(F):5'- GTCCGGACTCATTTTTTGC -3'
(R):5'- ACAAAGCCATCTCCCTTGTCG -3'
|
Posted On |
2017-02-01 |