Incidental Mutation 'R3715:Syncrip'
| ID |
259858 |
| 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 |
| MMRRC Submission |
040708-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.696)
|
| Stock # |
R3715 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88331417-88364645 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 88361738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069221]
[ENSMUST00000172508]
[ENSMUST00000172828]
[ENSMUST00000173405]
[ENSMUST00000173801]
[ENSMUST00000174269]
[ENSMUST00000174391]
[ENSMUST00000174361]
[ENSMUST00000174282]
[ENSMUST00000174688]
|
| AlphaFold |
Q7TMK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069221
|
| SMART Domains |
Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
| 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 |
probably benign
Transcript: ENSMUST00000172828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173405
|
| SMART Domains |
Protein: ENSMUSP00000133343
Gene: ENSMUSG00000032423
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l3ka1
|
156 |
196 |
5e-8 |
SMART |
|
Blast:RRM
|
163 |
196 |
5e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173801
|
| SMART Domains |
Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
| 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 benign
Transcript: ENSMUST00000174269
|
| SMART Domains |
Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
| 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 benign
Transcript: ENSMUST00000174391
|
| SMART Domains |
Protein: ENSMUSP00000134342
Gene: ENSMUSG00000032423
| 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 benign
Transcript: ENSMUST00000174361
|
| SMART Domains |
Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
| 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 |
noncoding transcript
Transcript: ENSMUST00000187770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174282
|
| SMART Domains |
Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
| 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 |
probably benign
Transcript: ENSMUST00000174688
|
| SMART Domains |
Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Aaas |
T |
C |
15: 102,248,771 (GRCm39) |
I236V |
probably benign |
Het |
| Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,135,213 (GRCm39) |
I246N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,233,508 (GRCm39) |
D582G |
probably damaging |
Het |
| Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
| Bmal2 |
A |
G |
6: 146,724,187 (GRCm39) |
K360E |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,068,880 (GRCm39) |
I282M |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
| Dlat |
A |
G |
9: 50,549,354 (GRCm39) |
V510A |
probably damaging |
Het |
| Eaf1 |
T |
C |
14: 31,224,402 (GRCm39) |
I173T |
possibly damaging |
Het |
| Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,219,420 (GRCm39) |
Y69C |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,473,432 (GRCm39) |
N107S |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
| Glt8d2 |
C |
A |
10: 82,488,571 (GRCm39) |
A300S |
probably benign |
Het |
| Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
| Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
| Lyg1 |
G |
T |
1: 37,989,759 (GRCm39) |
R43S |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,465,405 (GRCm39) |
L833P |
probably benign |
Het |
| Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,175,062 (GRCm39) |
|
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,642 (GRCm39) |
L186P |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,759,757 (GRCm39) |
W301R |
probably benign |
Het |
| Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,534,215 (GRCm39) |
K1397* |
probably null |
Het |
| Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
| Rbfox2 |
A |
G |
15: 76,983,451 (GRCm39) |
I270T |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,410,728 (GRCm39) |
C322* |
probably null |
Het |
| Sbk1 |
A |
G |
7: 125,889,183 (GRCm39) |
T50A |
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,688,402 (GRCm39) |
T248A |
probably damaging |
Het |
| Smim29 |
G |
A |
17: 27,785,043 (GRCm39) |
|
probably benign |
Het |
| Sox30 |
C |
T |
11: 45,875,619 (GRCm39) |
T457I |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,187 (GRCm39) |
I52F |
possibly damaging |
Het |
| Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
T |
C |
7: 35,204,405 (GRCm39) |
E235G |
probably benign |
Het |
| Tmem82 |
A |
T |
4: 141,344,945 (GRCm39) |
|
probably null |
Het |
| Tro |
T |
C |
X: 149,437,230 (GRCm39) |
T476A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,752,272 (GRCm39) |
R772G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,474 (GRCm39) |
E190G |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,651,095 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,741,057 (GRCm39) |
S156T |
possibly damaging |
Het |
| Zswim5 |
A |
G |
4: 116,819,755 (GRCm39) |
T387A |
probably benign |
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 |
|
|
R3779:Syncrip
|
UTSW |
9 |
88,358,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCACACTTCAGGACTATTTAACAG -3'
(R):5'- TCTTCTCCAGGGCTAGTTGC -3'
Sequencing Primer
(F):5'- ACGGACTTAAAGCCACAG -3'
(R):5'- CTTTAAAAGAGTTCAATGAAGACGGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation