Incidental Mutation 'IGL02657:Syncrip'
ID 302380
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 # IGL02657
Quality Score
Status
Chromosome 9
Chromosomal Location 88331417-88364645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88338457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 536 (R536S)
Ref Sequence ENSEMBL: ENSMUSP00000133649 (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
AA Change: R536S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
AA Change: R536S

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 unknown
Transcript: ENSMUST00000154586
AA Change: R33S
SMART Domains Protein: ENSMUSP00000133964
Gene: ENSMUSG00000092541
AA Change: R33S

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: R71S
SMART Domains Protein: ENSMUSP00000134122
Gene: ENSMUSG00000092541
AA Change: R71S

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 probably benign
Transcript: ENSMUST00000173801
AA Change: R536S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
AA Change: R536S

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: R501S
SMART Domains Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
AA Change: R501S

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: R536S
SMART Domains Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
AA Change: R536S

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: R501S
SMART Domains Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
AA Change: R501S

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: R438S
SMART Domains Protein: ENSMUSP00000134342
Gene: ENSMUSG00000032423
AA Change: R438S

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: R422S
SMART Domains Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
AA Change: R422S

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging 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
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
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 2015-04-16