Incidental Mutation 'IGL02699:Syncrip'
ID304066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syncrip
Ensembl Gene ENSMUSG00000032423
Gene Namesynaptotagmin binding, cytoplasmic RNA interacting protein
SynonymshnRNP Q, GRY-RBP, Nsap1, pp68, RRM RNA binding protein GRY-RBP, Nsap1l, 2610109K23Rik, 4632417O19Rik
Accession Numbers

Genbank: NM_019666NM_019796; MGI: 1891690

 

Is this an essential gene? Possibly essential (E-score: 0.718) question?
Stock #IGL02699
Quality Score
Status
Chromosome9
Chromosomal Location88447009-88482574 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 88456554 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069221] [ENSMUST00000172828] [ENSMUST00000173801] [ENSMUST00000174269] [ENSMUST00000174282] [ENSMUST00000174361] [ENSMUST00000174391] [ENSMUST00000174688]
Predicted Effect unknown
Transcript: ENSMUST00000069221
AA Change: Y486H
SMART Domains Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
AA Change: Y486H

DomainStartEndE-ValueType
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: ENSMUST00000154586
SMART Domains Protein: ENSMUSP00000133964
Gene: ENSMUSG00000092541

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
low complexity region 24 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172828
Predicted Effect unknown
Transcript: ENSMUST00000173131
AA Change: Y21H
SMART Domains Protein: ENSMUSP00000134122
Gene: ENSMUSG00000092541
AA Change: Y21H

DomainStartEndE-ValueType
low complexity region 1 26 N/A INTRINSIC
low complexity region 30 58 N/A INTRINSIC
low complexity region 62 88 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000173801
AA Change: Y486H
SMART Domains Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
AA Change: Y486H

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000174269
AA Change: Y451H
SMART Domains Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
AA Change: Y451H

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000174282
AA Change: Y486H
SMART Domains Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
AA Change: Y486H

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000174361
AA Change: Y451H
SMART Domains Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
AA Change: Y451H

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000174391
AA Change: Y388H
SMART Domains Protein: ENSMUSP00000134342
Gene: ENSMUSG00000032423
AA Change: Y388H

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000174688
AA Change: Y372H
SMART Domains Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
AA Change: Y372H

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Casq1 T C 1: 172,219,696 probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Dnaaf5 T C 5: 139,153,350 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo8 A G 8: 56,590,188 T236A possibly damaging Het
Ighv1-12 C A 12: 114,616,116 E29* probably null Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ing5 A G 1: 93,816,442 N157D possibly damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Mansc1 T C 6: 134,610,354 T287A probably benign Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Osm T C 11: 4,239,723 V169A possibly damaging Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Tmem59 T C 4: 107,192,538 M140T probably benign Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Syncrip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Syncrip APN 9 88456607 utr 3 prime probably benign
IGL01474:Syncrip APN 9 88480747 missense probably benign 0.04
IGL02657:Syncrip APN 9 88456404 missense probably benign 0.23
IGL02659:Syncrip APN 9 88456404 missense probably benign 0.23
IGL02660:Syncrip APN 9 88456404 missense probably benign 0.23
IGL02727:Syncrip APN 9 88479879 missense probably damaging 1.00
IGL02801:Syncrip APN 9 88479809 missense probably damaging 1.00
IGL03169:Syncrip APN 9 88456443 utr 3 prime probably benign
IGL03214:Syncrip APN 9 88464643 intron probably benign
3-1:Syncrip UTSW 9 88461674 nonsense probably null
R0426:Syncrip UTSW 9 88456259 intron probably benign
R1500:Syncrip UTSW 9 88479896 missense probably damaging 0.98
R1952:Syncrip UTSW 9 88476874 missense probably damaging 1.00
R2437:Syncrip UTSW 9 88479567 splice site probably benign
R3715:Syncrip UTSW 9 88479685 splice site probably benign
R3779:Syncrip UTSW 9 88476939 missense probably damaging 1.00
R4770:Syncrip UTSW 9 88479852 missense probably damaging 1.00
R5677:Syncrip UTSW 9 88456709 unclassified probably benign
R6860:Syncrip UTSW 9 88476796 missense probably damaging 0.98
R7286:Syncrip UTSW 9 88464663 missense probably damaging 1.00
R7736:Syncrip UTSW 9 88461668 critical splice donor site probably null
Posted On2015-04-16