Incidental Mutation 'IGL03214:Syncrip'
ID 413435
Institutional Source Australian Phenomics Network (link to record)
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? Possibly essential (E-score: 0.696) question?
Stock # IGL03214
Quality Score
Status
Chromosome 9
Chromosomal Location 88331417-88364645 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 88346696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069221] [ENSMUST00000172828] [ENSMUST00000173801] [ENSMUST00000174269] [ENSMUST00000174282] [ENSMUST00000174361] [ENSMUST00000174391] [ENSMUST00000174688]
AlphaFold Q7TMK9
Predicted Effect probably benign
Transcript: ENSMUST00000069221
SMART Domains Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423

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: ENSMUST00000172828
Predicted Effect probably benign
Transcript: ENSMUST00000173801
SMART Domains Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423

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
SMART Domains Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423

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 benign
Transcript: ENSMUST00000174282
SMART Domains Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423

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 benign
Transcript: ENSMUST00000174361
SMART Domains Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423

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 benign
Transcript: ENSMUST00000174688
SMART Domains Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T C 11: 7,117,054 (GRCm39) probably benign Het
Asb5 T C 8: 55,038,098 (GRCm39) V207A probably benign Het
Atxn3 G T 12: 101,912,181 (GRCm39) probably benign Het
Brwd1 T C 16: 95,839,100 (GRCm39) D857G probably benign Het
Cacna1i A G 15: 80,239,917 (GRCm39) N322S probably benign Het
Ccn6 T C 10: 39,029,163 (GRCm39) N255S probably benign Het
Dcun1d1 A T 3: 35,973,220 (GRCm39) W92R probably damaging Het
Dnah7a A C 1: 53,561,368 (GRCm39) probably null Het
Enpep T C 3: 129,086,896 (GRCm39) D581G probably benign Het
Fam135a G A 1: 24,092,357 (GRCm39) L201F probably damaging Het
Gm14496 T G 2: 181,642,329 (GRCm39) L667V probably damaging Het
Grk4 T A 5: 34,909,553 (GRCm39) M539K probably benign Het
Itpr2 A G 6: 146,081,742 (GRCm39) V2261A probably benign Het
Krtap5-2 A G 7: 141,728,751 (GRCm39) S310P unknown Het
Mme A T 3: 63,237,111 (GRCm39) Y232F possibly damaging Het
Mtmr4 T C 11: 87,488,519 (GRCm39) Y58H probably damaging Het
Myh13 T C 11: 67,244,411 (GRCm39) S983P possibly damaging Het
Nbas A G 12: 13,381,111 (GRCm39) probably benign Het
Neb C T 2: 52,049,560 (GRCm39) G6428R probably damaging Het
Neb T A 2: 52,087,856 (GRCm39) T5448S possibly damaging Het
Or2ag17 T A 7: 106,389,552 (GRCm39) I219L probably benign Het
Or2t1 A T 14: 14,328,284 (GRCm38) M58L probably damaging Het
Or52ab7 G T 7: 102,977,873 (GRCm39) S60I possibly damaging Het
Or5l13 T A 2: 87,780,415 (GRCm39) Q54L probably benign Het
Or5p52 T C 7: 107,502,173 (GRCm39) M83T probably benign Het
Otx2 A G 14: 48,898,781 (GRCm39) I75T probably damaging Het
Phex A T X: 155,960,500 (GRCm39) N681K probably damaging Het
Plekha8 C A 6: 54,612,755 (GRCm39) A454E probably damaging Het
Rbfa C A 18: 80,240,506 (GRCm39) K152N probably benign Het
Satb2 C A 1: 56,884,739 (GRCm39) S513I probably damaging Het
Slc4a2 G T 5: 24,639,879 (GRCm39) R520L probably benign Het
Slfn14 T C 11: 83,169,826 (GRCm39) H606R probably benign Het
Smc1b G A 15: 84,982,147 (GRCm39) Q716* probably null Het
Vmn2r30 T A 7: 7,337,259 (GRCm39) I126F probably benign Het
Vps13c C T 9: 67,804,477 (GRCm39) A762V probably null Het
Wdr64 C A 1: 175,571,201 (GRCm39) probably benign Het
Other mutations in Syncrip
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02