Incidental Mutation 'IGL01354:Zrsr1'
ID75480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zrsr1
Ensembl Gene ENSMUSG00000044068
Gene Namezinc finger (CCCH type), RNA binding motif and serine/arginine rich 1
Synonyms35kDa, U2afbp-rs, SP2, Irlgs2, U2af1-rs1, D11Ncvs75
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01354
Quality Score
Status
Chromosome11
Chromosomal Location22972005-22976496 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 22974190 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 321 (H321Q)
Ref Sequence ENSEMBL: ENSMUSP00000062025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049506] [ENSMUST00000057843] [ENSMUST00000071068] [ENSMUST00000159081] [ENSMUST00000160826]
Predicted Effect probably damaging
Transcript: ENSMUST00000049506
AA Change: H321Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062025
Gene: ENSMUSG00000044068
AA Change: H321Q

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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

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

DomainStartEndE-ValueType
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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,527,376 L41P probably damaging Het
Baz2b T C 2: 59,968,889 Q297R probably benign Het
Chl1 A T 6: 103,665,853 Q184L probably benign Het
Cyp2a5 A G 7: 26,837,103 D169G possibly damaging Het
Cyp2d34 G A 15: 82,617,622 T229M probably benign Het
Fgd5 C T 6: 92,061,843 R995* probably null Het
Gaa T C 11: 119,270,568 S146P probably benign Het
Gm11437 T A 11: 84,167,318 probably benign Het
Gm6614 T C 6: 141,990,408 N317S probably benign Het
Inpp5a T C 7: 139,538,234 F235L probably damaging Het
Lpp T A 16: 24,762,066 Y177* probably null Het
Malt1 A G 18: 65,475,191 Y654C probably damaging Het
Olfr1302 A C 2: 111,780,901 N194H possibly damaging Het
Olfr1380 T C 11: 49,564,197 I92T probably damaging Het
Olfr878 G A 9: 37,919,544 V301I possibly damaging Het
Otog A G 7: 46,289,726 N2060S probably damaging Het
Phc1 G A 6: 122,334,083 T98I probably damaging Het
Pik3cb A G 9: 99,064,168 I535T possibly damaging Het
Plxna2 A G 1: 194,762,435 I712V probably benign Het
Psmc2 A G 5: 21,795,836 E103G possibly damaging Het
Ptprb A G 10: 116,343,891 I1405V probably benign Het
Ralgapa1 T C 12: 55,777,316 N260D possibly damaging Het
Reln G A 5: 21,919,175 Q2778* probably null Het
Sptlc1 T A 13: 53,333,951 Q452L probably benign Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Ubap2 T C 4: 41,207,005 E191G probably damaging Het
Vstm4 A T 14: 32,919,245 T262S probably benign Het
Other mutations in Zrsr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1474:Zrsr1 UTSW 11 22974404 missense probably benign
R1653:Zrsr1 UTSW 11 22974158 missense probably damaging 0.99
R1766:Zrsr1 UTSW 11 22973637 missense probably benign 0.00
R4884:Zrsr1 UTSW 11 22973805 missense possibly damaging 0.68
R7223:Zrsr1 UTSW 11 22973388 missense probably benign 0.00
R7417:Zrsr1 UTSW 11 22974662 intron probably null
R7431:Zrsr1 UTSW 11 22973580 missense probably benign 0.44
R7736:Zrsr1 UTSW 11 22973510 nonsense probably null
R7751:Zrsr1 UTSW 11 22973595 missense possibly damaging 0.72
Posted On2013-10-07