Incidental Mutation 'R3779:Syncrip'
| ID |
271967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syncrip
|
| Ensembl Gene |
ENSMUSG00000032423 |
| Gene Name |
synaptotagmin binding, cytoplasmic RNA interacting protein |
| Synonyms |
2610109K23Rik, Nsap1, pp68, RRM RNA binding protein GRY-RBP, GRY-RBP, 4632417O19Rik, hnRNP Q, Nsap1l |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.762)
|
| Stock # |
R3779 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88331417-88364645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 88358992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 172
(D172E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069221]
[ENSMUST00000172508]
[ENSMUST00000172828]
[ENSMUST00000173405]
[ENSMUST00000173801]
[ENSMUST00000174269]
[ENSMUST00000174282]
[ENSMUST00000174361]
[ENSMUST00000174391]
[ENSMUST00000174688]
|
| AlphaFold |
Q7TMK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069221
AA Change: D172E
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
163 |
237 |
3.38e-21 |
SMART |
|
RRM
|
244 |
321 |
2.1e-8 |
SMART |
|
RRM
|
339 |
404 |
1.4e-18 |
SMART |
|
low complexity region
|
428 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
553 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172508
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172828
AA Change: S66A
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173405
AA Change: D172E
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133343
Gene: ENSMUSG00000032423
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l3ka1
|
156 |
196 |
5e-8 |
SMART |
|
Blast:RRM
|
163 |
196 |
5e-17 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173801
AA Change: D172E
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
163 |
237 |
3.38e-21 |
SMART |
|
RRM
|
244 |
321 |
2.1e-8 |
SMART |
|
RRM
|
339 |
404 |
1.4e-18 |
SMART |
|
low complexity region
|
428 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174145
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174269
AA Change: D172E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
163 |
237 |
3.38e-21 |
SMART |
|
RRM
|
244 |
303 |
2.77e0 |
SMART |
|
RRM
|
304 |
369 |
1.4e-18 |
SMART |
|
low complexity region
|
393 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174282
AA Change: D172E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
163 |
237 |
1.4e-23 |
SMART |
|
RRM
|
244 |
321 |
9.1e-11 |
SMART |
|
RRM
|
339 |
404 |
6e-21 |
SMART |
|
low complexity region
|
428 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174361
AA Change: D172E
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
163 |
237 |
3.38e-21 |
SMART |
|
RRM
|
244 |
303 |
2.77e0 |
SMART |
|
RRM
|
304 |
369 |
1.4e-18 |
SMART |
|
low complexity region
|
393 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174391
AA Change: D74E
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134342
Gene: ENSMUSG00000032423
AA Change: D74E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
65 |
139 |
3.38e-21 |
SMART |
|
RRM
|
146 |
223 |
2.1e-8 |
SMART |
|
RRM
|
241 |
306 |
1.4e-18 |
SMART |
|
low complexity region
|
330 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174688
AA Change: D172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
163 |
224 |
3.18e-8 |
SMART |
|
RRM
|
225 |
290 |
1.4e-18 |
SMART |
|
low complexity region
|
314 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187770
|
| Meta Mutation Damage Score |
0.1890 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
All alleles(28) : Gene trapped(28) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
G |
16: 88,424,273 (GRCm39) |
C73R |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,665,628 (GRCm39) |
V371A |
probably damaging |
Het |
| Ambn |
C |
A |
5: 88,613,201 (GRCm39) |
|
probably benign |
Het |
| Ankrd34a |
T |
C |
3: 96,506,247 (GRCm39) |
F484L |
possibly damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,568 (GRCm39) |
K637R |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 134,962,337 (GRCm39) |
S1968P |
possibly damaging |
Het |
| Cfap61 |
T |
C |
2: 145,792,714 (GRCm39) |
I52T |
probably damaging |
Het |
| Cit |
A |
T |
5: 115,997,400 (GRCm39) |
M128L |
probably benign |
Het |
| Cnga1 |
G |
T |
5: 72,762,126 (GRCm39) |
L463I |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,094,448 (GRCm39) |
|
probably benign |
Het |
| Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
G |
5: 110,839,515 (GRCm39) |
I1853T |
unknown |
Het |
| Flg2 |
C |
T |
3: 93,109,730 (GRCm39) |
S586L |
unknown |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm21886 |
G |
T |
18: 80,132,649 (GRCm39) |
Q170K |
possibly damaging |
Het |
| Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
| Gm9376 |
T |
C |
14: 118,504,727 (GRCm39) |
V53A |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,500,574 (GRCm39) |
T90A |
probably damaging |
Het |
| Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,206,428 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Jak1 |
G |
A |
4: 101,013,687 (GRCm39) |
H1014Y |
probably benign |
Het |
| Klrb1c |
T |
C |
6: 128,757,306 (GRCm39) |
D253G |
probably damaging |
Het |
| Lpin1 |
G |
A |
12: 16,614,569 (GRCm39) |
T404M |
probably damaging |
Het |
| Map3k9 |
A |
T |
12: 81,790,565 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,039,926 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
G |
T |
17: 71,301,631 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Or6c38 |
A |
G |
10: 128,929,165 (GRCm39) |
F226S |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,205,738 (GRCm39) |
S575T |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,569,118 (GRCm39) |
Y1247C |
probably damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,260 (GRCm39) |
T181S |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,499,741 (GRCm39) |
V928A |
possibly damaging |
Het |
| Skint5 |
C |
T |
4: 113,636,237 (GRCm39) |
|
probably benign |
Het |
| Slc24a1 |
A |
G |
9: 64,855,579 (GRCm39) |
Y443H |
unknown |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
| Tex26 |
T |
C |
5: 149,369,316 (GRCm39) |
I48T |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,853,403 (GRCm39) |
I1808L |
possibly damaging |
Het |
| Uba2 |
T |
C |
7: 33,854,071 (GRCm39) |
|
probably null |
Het |
| Vwa8 |
T |
A |
14: 79,339,762 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Wrn |
T |
A |
8: 33,731,048 (GRCm39) |
R1095W |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,717 (GRCm39) |
N315K |
probably damaging |
Het |
|
| Other mutations in Syncrip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Syncrip
|
APN |
9 |
88,338,660 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01474:Syncrip
|
APN |
9 |
88,362,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02657:Syncrip
|
APN |
9 |
88,338,457 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02659:Syncrip
|
APN |
9 |
88,338,457 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02660:Syncrip
|
APN |
9 |
88,338,457 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02699:Syncrip
|
APN |
9 |
88,338,607 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02727:Syncrip
|
APN |
9 |
88,361,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Syncrip
|
APN |
9 |
88,361,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Syncrip
|
APN |
9 |
88,338,496 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03214:Syncrip
|
APN |
9 |
88,346,696 (GRCm39) |
intron |
probably benign |
|
|
3-1:Syncrip
|
UTSW |
9 |
88,343,727 (GRCm39) |
nonsense |
probably null |
|
|
R0426:Syncrip
|
UTSW |
9 |
88,338,312 (GRCm39) |
intron |
probably benign |
|
|
R1500:Syncrip
|
UTSW |
9 |
88,361,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1952:Syncrip
|
UTSW |
9 |
88,358,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Syncrip
|
UTSW |
9 |
88,361,620 (GRCm39) |
splice site |
probably benign |
|
|
R3715:Syncrip
|
UTSW |
9 |
88,361,738 (GRCm39) |
splice site |
probably benign |
|
|
R4770:Syncrip
|
UTSW |
9 |
88,361,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Syncrip
|
UTSW |
9 |
88,338,762 (GRCm39) |
unclassified |
probably benign |
|
|
R6860:Syncrip
|
UTSW |
9 |
88,358,849 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7286:Syncrip
|
UTSW |
9 |
88,346,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Syncrip
|
UTSW |
9 |
88,343,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8778:Syncrip
|
UTSW |
9 |
88,338,294 (GRCm39) |
missense |
unknown |
|
|
R8937:Syncrip
|
UTSW |
9 |
88,344,900 (GRCm39) |
intron |
probably benign |
|
|
R9684:Syncrip
|
UTSW |
9 |
88,361,671 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTGACATTAAGCATAGGGG -3'
(R):5'- AAGAACAGGCTACACACTTGATG -3'
Sequencing Primer
(F):5'- CATAACCTCTGTTGAGACC -3'
(R):5'- CCACAGCTATCTAGTTTCCTA -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation