Incidental Mutation 'IGL02658:Szrd1'
ID 302456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Szrd1
Ensembl Gene ENSMUSG00000040842
Gene Name SUZ RNA binding domain containing 1
Synonyms D4Ertd22e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL02658
Quality Score
Status
Chromosome 4
Chromosomal Location 140840312-140867086 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 140867057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102487] [ENSMUST00000148204]
AlphaFold Q6NXN1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000039939
SMART Domains Protein: ENSMUSP00000035712
Gene: ENSMUSG00000040842

DomainStartEndE-ValueType
Pfam:SUZ 36 87 7.7e-19 PFAM
Pfam:SUZ-C 99 132 2.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094549
SMART Domains Protein: ENSMUSP00000092128
Gene: ENSMUSG00000040842

DomainStartEndE-ValueType
Pfam:SUZ 37 88 7.9e-19 PFAM
Pfam:SUZ-C 100 133 2.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102487
SMART Domains Protein: ENSMUSP00000099545
Gene: ENSMUSG00000040842

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:SUZ 56 107 1.4e-17 PFAM
Pfam:SUZ-C 120 151 1.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128444
Predicted Effect probably benign
Transcript: ENSMUST00000148204
SMART Domains Protein: ENSMUSP00000115949
Gene: ENSMUSG00000040842

DomainStartEndE-ValueType
Pfam:SUZ 50 101 1.7e-18 PFAM
Pfam:SUZ-C 113 146 1.3e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,843,386 (GRCm39) Y946F probably benign Het
Abcb4 T G 5: 8,984,240 (GRCm39) W657G probably benign Het
Adcy1 T C 11: 7,088,279 (GRCm39) probably benign Het
Arap3 A G 18: 38,124,047 (GRCm39) V351A probably benign Het
Bpifb9b A C 2: 154,153,201 (GRCm39) Y89S probably benign Het
Carns1 C T 19: 4,223,083 (GRCm39) C47Y probably benign Het
Chd5 C T 4: 152,445,050 (GRCm39) H344Y probably damaging Het
Ctnna2 T C 6: 76,957,807 (GRCm39) T481A probably benign Het
Cyth1 T A 11: 118,073,072 (GRCm39) D264V probably damaging Het
Dph1 C A 11: 75,071,461 (GRCm39) L311F probably benign Het
Eif3l A G 15: 78,961,142 (GRCm39) D65G probably damaging Het
Gtf2a1l T A 17: 88,976,146 (GRCm39) F3Y probably benign Het
Hcn4 A T 9: 58,766,748 (GRCm39) T770S unknown Het
Hydin A T 8: 111,139,908 (GRCm39) I726F possibly damaging Het
Klf2 A G 8: 73,072,940 (GRCm39) I7V probably benign Het
Ltn1 A T 16: 87,212,662 (GRCm39) L633H probably damaging Het
Ncoa3 A G 2: 165,893,313 (GRCm39) D206G probably benign Het
Nlrp4a T G 7: 26,149,138 (GRCm39) D248E probably benign Het
Nyap1 A G 5: 137,733,746 (GRCm39) I429T probably damaging Het
Or1j10 T A 2: 36,267,072 (GRCm39) C95S probably damaging Het
Or2p2 G A 13: 21,256,982 (GRCm39) T163I probably damaging Het
Or2t6 T A 14: 14,175,732 (GRCm38) M117L possibly damaging Het
Or51g1 A G 7: 102,633,537 (GRCm39) M278T probably benign Het
Or8s16 A G 15: 98,211,237 (GRCm39) S65P probably damaging Het
Pcf11 T C 7: 92,296,254 (GRCm39) E1322G probably damaging Het
Plcxd2 A T 16: 45,792,689 (GRCm39) F217I probably benign Het
Plxna4 A T 6: 32,162,346 (GRCm39) I1389N probably damaging Het
Ppp1r15a T C 7: 45,174,091 (GRCm39) Y239C probably benign Het
Psma6 A G 12: 55,458,996 (GRCm39) E126G probably benign Het
R3hcc1l T A 19: 42,551,141 (GRCm39) V46E probably damaging Het
Rap1gds1 G T 3: 138,663,240 (GRCm39) H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 (GRCm39) M105V probably damaging Het
Slc22a26 T A 19: 7,765,613 (GRCm39) N345I probably benign Het
Sncaip T C 18: 53,028,027 (GRCm39) I412T possibly damaging Het
Sorcs1 A T 19: 50,178,530 (GRCm39) I864N probably damaging Het
Spag5 C T 11: 78,212,157 (GRCm39) Q1062* probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tns2 C A 15: 102,016,231 (GRCm39) probably benign Het
Trcg1 C A 9: 57,149,511 (GRCm39) S361* probably null Het
Tshz3 T C 7: 36,468,583 (GRCm39) F191L probably damaging Het
Ttc39a T C 4: 109,280,090 (GRCm39) V124A probably damaging Het
Ttf1 T C 2: 28,964,023 (GRCm39) I633T probably damaging Het
Zfp691 A G 4: 119,027,704 (GRCm39) F176S probably damaging Het
Other mutations in Szrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0437:Szrd1 UTSW 4 140,846,055 (GRCm39) missense probably benign 0.11
R4790:Szrd1 UTSW 4 140,867,001 (GRCm39) critical splice donor site probably null
R5077:Szrd1 UTSW 4 140,867,092 (GRCm39) splice site probably null
Z1088:Szrd1 UTSW 4 140,845,898 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16