Incidental Mutation 'R1653:Zrsr1'
ID 188869
Institutional Source Beutler Lab
Gene Symbol Zrsr1
Ensembl Gene ENSMUSG00000044068
Gene Name zinc finger (CCCH type), RNA binding motif and serine/arginine rich 1
Synonyms 35kDa, U2afbp-rs, SP2, Irlgs2, U2af1-rs1, D11Ncvs75
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 22972005-22976496 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22974158 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 311 (C311S)
Ref Sequence ENSEMBL: ENSMUSP00000062025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049506] [ENSMUST00000057843] [ENSMUST00000071068] [ENSMUST00000159081] [ENSMUST00000160826]
AlphaFold Q64707
Predicted Effect probably damaging
Transcript: ENSMUST00000049506
AA Change: C311S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062025
Gene: ENSMUSG00000044068
AA Change: C311S

low complexity region 14 39 N/A INTRINSIC
coiled coil region 52 144 N/A INTRINSIC
ZnF_C3H1 158 184 1.69e-3 SMART
RRM 190 291 1.44e-2 SMART
ZnF_C3H1 297 323 1.2e-3 SMART
low complexity region 364 389 N/A INTRINSIC
low complexity region 403 418 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057843
SMART Domains Protein: ENSMUSP00000053606
Gene: ENSMUSG00000051355

low complexity region 2 22 N/A INTRINSIC
Pfam:HCaRG 44 238 1.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071068
SMART Domains Protein: ENSMUSP00000065079
Gene: ENSMUSG00000051355

low complexity region 2 17 N/A INTRINSIC
Pfam:HCaRG 57 89 2.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093270
SMART Domains Protein: ENSMUSP00000090958
Gene: ENSMUSG00000051355

Pfam:HCaRG 3 137 1.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159081
SMART Domains Protein: ENSMUSP00000124719
Gene: ENSMUSG00000051355

Pfam:HCaRG 12 184 1.3e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160826
SMART Domains Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650

Pfam:HCaRG 1 99 1.3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230879
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Heterozygotes for a targeted null mutation of this imprinted gene are viable and fertile regardless of the parental origin of the mutated allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik G T 7: 127,384,480 (GRCm38) H483Q possibly damaging Het
Adam34 A T 8: 43,650,645 (GRCm38) C654* probably null Het
Adamts19 T A 18: 58,890,293 (GRCm38) N253K probably benign Het
Adgrb3 A G 1: 25,101,503 (GRCm38) L1162S probably benign Het
Ap2b1 T A 11: 83,346,831 (GRCm38) Y574N probably damaging Het
Atrn A G 2: 130,935,624 (GRCm38) I198V probably benign Het
Bcan T A 3: 87,994,196 (GRCm38) I400F probably damaging Het
Capn10 A G 1: 92,946,898 (GRCm38) Y617C probably damaging Het
Capn8 A G 1: 182,623,951 (GRCm38) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm38) L309P probably benign Het
Ccser1 T A 6: 61,311,465 (GRCm38) I204K probably benign Het
Cd276 T C 9: 58,537,449 (GRCm38) T80A probably benign Het
Cdh3 T C 8: 106,539,068 (GRCm38) S248P probably damaging Het
Celsr2 T C 3: 108,413,520 (GRCm38) T659A possibly damaging Het
Col6a4 C T 9: 106,072,409 (GRCm38) V676I probably damaging Het
Crmp1 T A 5: 37,286,468 (GRCm38) V575D probably damaging Het
Ep400 G A 5: 110,693,174 (GRCm38) Q1795* probably null Het
Gcnt3 A G 9: 70,035,077 (GRCm38) C70R probably damaging Het
Gm12258 T C 11: 58,858,287 (GRCm38) I96T possibly damaging Het
Gpr183 A G 14: 121,954,263 (GRCm38) F282S probably damaging Het
Igfals T C 17: 24,881,078 (GRCm38) V381A probably benign Het
Irs3 C A 5: 137,644,521 (GRCm38) L218F probably damaging Het
Kdm5b T C 1: 134,602,481 (GRCm38) F410S probably damaging Het
Klc4 T C 17: 46,631,859 (GRCm38) Y593C possibly damaging Het
Lce1h T A 3: 92,763,443 (GRCm38) Q134L unknown Het
Lyst T C 13: 13,635,226 (GRCm38) S494P probably damaging Het
March3 A G 18: 56,811,895 (GRCm38) M42T probably benign Het
Myh7 A G 14: 54,990,789 (GRCm38) I250T probably benign Het
N4bp1 G T 8: 86,844,948 (GRCm38) H807Q probably benign Het
Ndn C T 7: 62,348,508 (GRCm38) P34L probably benign Het
Nfs1 C T 2: 156,125,336 (GRCm38) G44D probably damaging Het
Nrg1 C T 8: 31,818,653 (GRCm38) R445H probably damaging Het
Olfr1507 A T 14: 52,490,772 (GRCm38) F64Y probably damaging Het
Olfr299 T C 7: 86,466,212 (GRCm38) V267A probably benign Het
Olfr683 T A 7: 105,143,870 (GRCm38) D141V possibly damaging Het
Pak7 C T 2: 136,116,887 (GRCm38) V94M probably damaging Het
Pdk1 G A 2: 71,888,995 (GRCm38) probably null Het
Sin3b G T 8: 72,741,519 (GRCm38) V290L probably benign Het
Sirt1 T C 10: 63,321,809 (GRCm38) T609A probably benign Het
Skint5 A T 4: 113,490,678 (GRCm38) S1289T unknown Het
Slc32a1 A T 2: 158,614,889 (GRCm38) H488L probably benign Het
Slc35b3 A G 13: 38,955,798 (GRCm38) S18P probably benign Het
Spaca7 T A 8: 12,586,501 (GRCm38) I109K possibly damaging Het
Tmem204 A G 17: 25,080,527 (GRCm38) L6P possibly damaging Het
Tubgcp6 G A 15: 89,107,442 (GRCm38) R651C probably damaging Het
Vps13b T A 15: 35,607,272 (GRCm38) L1117* probably null Het
Wdcp T C 12: 4,851,815 (GRCm38) L557P probably damaging Het
Wwp2 T C 8: 107,483,410 (GRCm38) F140S possibly damaging Het
Zfp429 C T 13: 67,389,924 (GRCm38) R467H possibly damaging Het
Zfp839 T A 12: 110,855,250 (GRCm38) M166K probably benign Het
Zfyve9 G A 4: 108,660,577 (GRCm38) Q1106* probably null Het
Other mutations in Zrsr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01354:Zrsr1 APN 11 22,974,190 (GRCm38) missense probably damaging 1.00
R1474:Zrsr1 UTSW 11 22,974,404 (GRCm38) missense probably benign
R1766:Zrsr1 UTSW 11 22,973,637 (GRCm38) missense probably benign 0.00
R4884:Zrsr1 UTSW 11 22,973,805 (GRCm38) missense possibly damaging 0.68
R7223:Zrsr1 UTSW 11 22,973,388 (GRCm38) missense probably benign 0.00
R7417:Zrsr1 UTSW 11 22,974,662 (GRCm38) splice site probably null
R7431:Zrsr1 UTSW 11 22,973,580 (GRCm38) missense probably benign 0.44
R7736:Zrsr1 UTSW 11 22,973,510 (GRCm38) nonsense probably null
R7751:Zrsr1 UTSW 11 22,973,595 (GRCm38) missense possibly damaging 0.72
R8762:Zrsr1 UTSW 11 22,973,694 (GRCm38) missense probably benign 0.02
R9621:Zrsr1 UTSW 11 22,973,418 (GRCm38) missense possibly damaging 0.53
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09