Incidental Mutation 'R3901:Csrnp1'
| ID |
308985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csrnp1
|
| Ensembl Gene |
ENSMUSG00000032515 |
| Gene Name |
cysteine-serine-rich nuclear protein 1 |
| Synonyms |
taip-3, Axud1, 4931429D10Rik, CSRNP-1 |
| MMRRC Submission |
040810-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119800229-119813724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119801707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 451
(E451K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035100]
[ENSMUST00000035101]
[ENSMUST00000177637]
[ENSMUST00000213936]
[ENSMUST00000214058]
[ENSMUST00000215916]
[ENSMUST00000216929]
|
| AlphaFold |
P59054 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035100
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
Blast:TPR
|
214 |
247 |
6e-11 |
BLAST |
|
TPR
|
326 |
359 |
4.55e1 |
SMART |
|
TPR
|
494 |
527 |
1.97e1 |
SMART |
|
Blast:TPR
|
528 |
561 |
1e-14 |
BLAST |
|
TPR
|
565 |
598 |
2.63e1 |
SMART |
|
Blast:TPR
|
617 |
649 |
6e-11 |
BLAST |
|
TPR
|
721 |
754 |
1.33e0 |
SMART |
|
TPR
|
755 |
788 |
4.84e-3 |
SMART |
|
TPR
|
790 |
821 |
1.14e1 |
SMART |
|
TPR
|
883 |
916 |
9.03e-3 |
SMART |
|
low complexity region
|
921 |
935 |
N/A |
INTRINSIC |
|
TPR
|
951 |
984 |
1.08e1 |
SMART |
|
Blast:TPR
|
1022 |
1054 |
3e-12 |
BLAST |
|
low complexity region
|
1117 |
1129 |
N/A |
INTRINSIC |
|
TPR
|
1195 |
1228 |
2.22e-2 |
SMART |
|
TPR
|
1264 |
1297 |
9.73e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035101
AA Change: E451K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035101
Gene: ENSMUSG00000032515
AA Change: E451K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
41 |
N/A |
INTRINSIC |
|
Pfam:CSRNP_N
|
79 |
304 |
1.6e-93 |
PFAM |
|
low complexity region
|
327 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177637
|
| SMART Domains |
Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
294 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213936
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214058
AA Change: E451K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215916
AA Change: E451K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216929
|
| Meta Mutation Damage Score |
0.3872 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (39/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,226,726 (GRCm39) |
D1109V |
possibly damaging |
Het |
| Apc2 |
G |
C |
10: 80,150,922 (GRCm39) |
R1992P |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Casp16 |
A |
T |
17: 23,771,922 (GRCm39) |
V101E |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clec7a |
A |
G |
6: 129,445,877 (GRCm39) |
S98P |
possibly damaging |
Het |
| Cpne5 |
G |
A |
17: 29,378,082 (GRCm39) |
R566C |
unknown |
Het |
| Dlst |
A |
G |
12: 85,179,465 (GRCm39) |
T435A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,078,269 (GRCm39) |
T525A |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,939,070 (GRCm39) |
T45A |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,974,713 (GRCm39) |
N5307S |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,357,539 (GRCm39) |
Y820H |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,199,083 (GRCm39) |
N1395I |
probably damaging |
Het |
| Fcnb |
T |
A |
2: 27,969,208 (GRCm39) |
Y163F |
probably damaging |
Het |
| Gm5444 |
T |
C |
13: 4,884,278 (GRCm39) |
|
noncoding transcript |
Het |
| Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,360 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,555,323 (GRCm39) |
I416T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,144 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,712,707 (GRCm39) |
V3095A |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,475,346 (GRCm39) |
*372W |
probably null |
Het |
| Or7d11 |
C |
T |
9: 19,966,169 (GRCm39) |
V197I |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pgap1 |
C |
T |
1: 54,532,507 (GRCm39) |
V671I |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 119,999,085 (GRCm39) |
S760G |
probably benign |
Het |
| Plk3 |
T |
C |
4: 116,990,633 (GRCm39) |
I94V |
probably benign |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Rims1 |
T |
A |
1: 22,572,578 (GRCm39) |
Q541L |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,664 (GRCm39) |
Q999R |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,645,163 (GRCm39) |
L911P |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,362,753 (GRCm39) |
|
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,728,435 (GRCm39) |
T28S |
probably damaging |
Het |
| Zfp595 |
T |
C |
13: 67,465,379 (GRCm39) |
I295V |
probably benign |
Het |
|
| Other mutations in Csrnp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Csrnp1
|
APN |
9 |
119,802,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02348:Csrnp1
|
APN |
9 |
119,801,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Csrnp1
|
UTSW |
9 |
119,801,841 (GRCm39) |
unclassified |
probably benign |
|
|
R1530:Csrnp1
|
UTSW |
9 |
119,802,612 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5851:Csrnp1
|
UTSW |
9 |
119,802,144 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6101:Csrnp1
|
UTSW |
9 |
119,802,551 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7621:Csrnp1
|
UTSW |
9 |
119,806,158 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7658:Csrnp1
|
UTSW |
9 |
119,801,469 (GRCm39) |
missense |
probably benign |
|
|
R8122:Csrnp1
|
UTSW |
9 |
119,802,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Csrnp1
|
UTSW |
9 |
119,801,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Csrnp1
|
UTSW |
9 |
119,801,997 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9768:Csrnp1
|
UTSW |
9 |
119,801,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCGGGAAGTATAGTGAGGTC -3'
(R):5'- GGAACAGATCCTGAATTTCAGTG -3'
Sequencing Primer
(F):5'- GTGAGGTCCCAGACTATAATCTG -3'
(R):5'- CAGTGACTCTGACCTCGGAATTGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation