Incidental Mutation 'IGL02801:Syncrip'
ID360187
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: 0.648) question?
Stock #IGL02801
Quality Score
Status
Chromosome9
Chromosomal Location88447009-88482574 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88479809 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 84 (D84E)
Ref Sequence ENSEMBL: ENSMUSP00000133716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069221] [ENSMUST00000172508] [ENSMUST00000172828] [ENSMUST00000173405] [ENSMUST00000173801] [ENSMUST00000174269] [ENSMUST00000174282] [ENSMUST00000174361] [ENSMUST00000174391] [ENSMUST00000174688]
Predicted Effect probably damaging
Transcript: ENSMUST00000069221
AA Change: D84E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
AA Change: D84E

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 damaging
Transcript: ENSMUST00000172508
AA Change: D84E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000172828
Predicted Effect probably damaging
Transcript: ENSMUST00000173405
AA Change: D84E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133343
Gene: ENSMUSG00000032423
AA Change: D84E

DomainStartEndE-ValueType
SCOP:d1l3ka1 156 196 5e-8 SMART
Blast:RRM 163 196 5e-17 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000173801
AA Change: D84E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
AA Change: D84E

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 noncoding transcript
Transcript: ENSMUST00000174145
Predicted Effect probably benign
Transcript: ENSMUST00000174269
AA Change: D84E

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
AA Change: D84E

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 probably damaging
Transcript: ENSMUST00000174282
AA Change: D84E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
AA Change: D84E

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 probably damaging
Transcript: ENSMUST00000174361
AA Change: D84E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
AA Change: D84E

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 probably benign
Transcript: ENSMUST00000174391
SMART Domains Protein: ENSMUSP00000134342
Gene: ENSMUSG00000032423

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 probably damaging
Transcript: ENSMUST00000174688
AA Change: D84E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
AA Change: D84E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187770
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null 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
IGL02699:Syncrip APN 9 88456554 utr 3 prime probably benign
IGL02727:Syncrip APN 9 88479879 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
R8778:Syncrip UTSW 9 88456241 missense unknown
Posted On2015-12-18