Incidental Mutation 'R6781:Csrnp3'
| ID |
531399 |
| 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 |
044895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R6781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
65676111-65861890 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65852615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 336
(C336S)
|
| 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: C348S
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000055719
Gene: ENSMUSG00000044647
AA Change: C348S
| 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: C336S
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108013
Gene: ENSMUSG00000044647
AA Change: C336S
| 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: C348S
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117533
Gene: ENSMUSG00000044647
AA Change: C348S
| 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: C336S
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135605
Gene: ENSMUSG00000044647
AA Change: C336S
| 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: C336S
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135019
Gene: ENSMUSG00000044647
AA Change: C336S
| 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 |
0.0595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (45/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,593,380 (GRCm39) |
I259N |
possibly damaging |
Het |
| Acot12 |
G |
T |
13: 91,932,531 (GRCm39) |
|
probably null |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,162 (GRCm39) |
L195P |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,284,268 (GRCm39) |
D556V |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,235,354 (GRCm39) |
|
probably benign |
Het |
| Asb15 |
T |
C |
6: 24,558,674 (GRCm39) |
V63A |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,414,664 (GRCm39) |
I459T |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,649,777 (GRCm39) |
G694W |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,961,928 (GRCm39) |
I106N |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,628,562 (GRCm39) |
I382V |
probably benign |
Het |
| Cntnap5a |
A |
C |
1: 116,220,127 (GRCm39) |
S646R |
probably benign |
Het |
| Cntnap5c |
C |
T |
17: 58,445,648 (GRCm39) |
Q563* |
probably null |
Het |
| Cpn1 |
A |
G |
19: 43,969,343 (GRCm39) |
F107L |
possibly damaging |
Het |
| Defa3 |
T |
A |
8: 21,778,277 (GRCm39) |
M87K |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,124,511 (GRCm39) |
D1110G |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,291 (GRCm39) |
F274L |
probably benign |
Het |
| Dnah8 |
TTA |
TTATA |
17: 30,984,698 (GRCm39) |
|
probably null |
Het |
| Dnase2b |
T |
C |
3: 146,288,126 (GRCm39) |
H323R |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,371,571 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,158,958 (GRCm39) |
N2269S |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,590,043 (GRCm39) |
M59K |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,190,978 (GRCm39) |
V83A |
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,946,417 (GRCm39) |
D615G |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,844,375 (GRCm39) |
K55R |
possibly damaging |
Het |
| Gm5414 |
A |
T |
15: 101,534,096 (GRCm39) |
S296T |
possibly damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,258,369 (GRCm39) |
K1234* |
probably null |
Het |
| Hltf |
T |
A |
3: 20,152,330 (GRCm39) |
Y609N |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,515,539 (GRCm39) |
D152G |
probably damaging |
Het |
| Kcnk6 |
T |
C |
7: 28,924,480 (GRCm39) |
Y308C |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,141,347 (GRCm39) |
S546P |
probably damaging |
Het |
| Map7d1 |
AGGGCAGCC |
AGGGCAGCCGGGCAGCC |
4: 126,134,544 (GRCm39) |
|
probably null |
Het |
| Meis2 |
T |
A |
2: 115,879,636 (GRCm39) |
H228L |
probably benign |
Het |
| Mfsd10 |
A |
T |
5: 34,791,853 (GRCm39) |
M344K |
possibly damaging |
Het |
| Mrps33 |
T |
C |
6: 39,782,757 (GRCm39) |
|
probably benign |
Het |
| Or2a52 |
A |
G |
6: 43,144,322 (GRCm39) |
E110G |
probably damaging |
Het |
| Or4p23 |
A |
T |
2: 88,577,174 (GRCm39) |
N19K |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,923,045 (GRCm39) |
T996A |
possibly damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,090 (GRCm39) |
|
probably null |
Het |
| Ppp1cb |
A |
G |
5: 32,638,106 (GRCm39) |
Y86C |
probably damaging |
Het |
| Sass6 |
T |
G |
3: 116,388,773 (GRCm39) |
|
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,230,928 (GRCm39) |
I218F |
probably damaging |
Het |
| Tcf23 |
C |
T |
5: 31,126,304 (GRCm39) |
P61L |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zc3h6 |
T |
C |
2: 128,857,341 (GRCm39) |
F620S |
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 |
|
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 |
|
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'- GGCTGTAGTAACACAGCAGG -3'
(R):5'- TCCGAGCCCTTCTACAAAGC -3'
Sequencing Primer
(F):5'- CAGCAGGTAGAATTGAATTCAATCC -3'
(R):5'- ACAAAGCCATCTCCCTTGTCG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation