Incidental Mutation 'R5340:Csrnp3'
| ID |
422262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csrnp3
|
| Ensembl Gene |
ENSMUSG00000044647 |
| Gene Name |
cysteine-serine-rich nuclear protein 3 |
| Synonyms |
mbu1, CSRNP-3, A330102K23Rik |
| MMRRC Submission |
042919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R5340 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
65676111-65861890 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65852781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 391
(D391G)
|
| 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: D403G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000055719
Gene: ENSMUSG00000044647
AA Change: D403G
| 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: D391G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000108013
Gene: ENSMUSG00000044647
AA Change: D391G
| 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: D403G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117533
Gene: ENSMUSG00000044647
AA Change: D403G
| 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: D391G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135605
Gene: ENSMUSG00000044647
AA Change: D391G
| 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: D391G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135019
Gene: ENSMUSG00000044647
AA Change: D391G
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp7 |
T |
C |
4: 41,034,347 (GRCm39) |
R271G |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,420,231 (GRCm39) |
I793V |
probably benign |
Het |
| Baz2a |
C |
T |
10: 127,950,911 (GRCm39) |
R535C |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,160 (GRCm39) |
T35A |
possibly damaging |
Het |
| Bnip1 |
T |
C |
17: 27,005,764 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
A |
G |
6: 29,411,859 (GRCm39) |
S369G |
possibly damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,615,692 (GRCm39) |
H414Q |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,189,603 (GRCm39) |
I15T |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,957,130 (GRCm39) |
|
probably null |
Het |
| Eri3 |
A |
T |
4: 117,530,991 (GRCm39) |
I329F |
probably damaging |
Het |
| Flii |
T |
A |
11: 60,608,094 (GRCm39) |
I786F |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,657,551 (GRCm39) |
I530N |
probably benign |
Het |
| Gm28042 |
T |
C |
2: 119,871,929 (GRCm39) |
S960P |
probably benign |
Het |
| Gzmm |
C |
A |
10: 79,530,907 (GRCm39) |
F236L |
probably benign |
Het |
| H2bl1 |
C |
T |
13: 99,120,951 (GRCm39) |
R25H |
possibly damaging |
Het |
| Igkv4-55 |
A |
G |
6: 69,584,489 (GRCm39) |
V41A |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,313,170 (GRCm39) |
Y1020H |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,276,858 (GRCm39) |
Y549C |
probably damaging |
Het |
| Mblac1 |
A |
T |
5: 138,192,840 (GRCm39) |
S61C |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,359,427 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
C |
T |
1: 162,908,156 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,919,720 (GRCm39) |
M1T |
probably null |
Het |
| Neb |
A |
G |
2: 52,113,060 (GRCm39) |
Y4245H |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,677 (GRCm39) |
F155L |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,706 (GRCm39) |
V144A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,658,175 (GRCm39) |
M282V |
possibly damaging |
Het |
| Pak2 |
G |
T |
16: 31,853,764 (GRCm39) |
|
probably null |
Het |
| Phc3 |
A |
T |
3: 30,961,616 (GRCm39) |
F939I |
probably damaging |
Het |
| Prss3l |
T |
C |
6: 41,422,307 (GRCm39) |
N33D |
probably benign |
Het |
| Rogdi |
C |
A |
16: 4,831,225 (GRCm39) |
R14L |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,664,470 (GRCm39) |
Y1627C |
probably damaging |
Het |
| Scrn3 |
A |
T |
2: 73,166,154 (GRCm39) |
K396* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,670 (GRCm39) |
N683D |
probably benign |
Het |
| Smtnl1 |
T |
A |
2: 84,645,785 (GRCm39) |
H362L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,210,479 (GRCm39) |
S927G |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,655,923 (GRCm39) |
V351A |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,709,993 (GRCm39) |
V432M |
possibly damaging |
Het |
| Ttll11 |
G |
T |
2: 35,792,801 (GRCm39) |
H347Q |
probably damaging |
Het |
| Vmn2r56 |
A |
C |
7: 12,449,799 (GRCm39) |
D146E |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,638,773 (GRCm39) |
|
probably null |
Het |
| Zcchc7 |
T |
A |
4: 44,762,245 (GRCm39) |
N124K |
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,308,252 (GRCm39) |
T307A |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,596 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,266 (GRCm39) |
V547A |
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 |
|
|
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 |
|
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'- TTCGAGATTGAAACCGAACCC -3'
(R):5'- AGAGAGCTGGCTAGGAGTTC -3'
Sequencing Primer
(F):5'- TGCTGTGCTGCACCTACAG -3'
(R):5'- AGGAGTTCCTGGGATGTGACTATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation