Incidental Mutation 'IGL01443:Speer4c2'
ID 84331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Speer4c2
Ensembl Gene ENSMUSG00000069720
Gene Name spermatogenesis associated glutamate (E)-rich protein 4C2
Synonyms 4930572O03Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01443
Quality Score
Status
Chromosome 5
Chromosomal Location 15857286-15862057 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 15857642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 212 (*212Q)
Ref Sequence ENSEMBL: ENSMUSP00000090370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092696]
AlphaFold Q8C5Y0
Predicted Effect probably null
Transcript: ENSMUST00000092696
AA Change: *212Q
SMART Domains Protein: ENSMUSP00000090370
Gene: ENSMUSG00000069720
AA Change: *212Q

DomainStartEndE-ValueType
Pfam:Takusan 6 90 5.2e-29 PFAM
low complexity region 203 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178227
SMART Domains Protein: ENSMUSP00000136079
Gene: ENSMUSG00000094230

DomainStartEndE-ValueType
low complexity region 43 54 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,694,690 (GRCm39) E1159G possibly damaging Het
Adgrl3 A G 5: 81,613,134 (GRCm39) Y189C probably damaging Het
AW554918 G A 18: 25,478,012 (GRCm39) G446R probably damaging Het
Baiap3 A G 17: 25,464,121 (GRCm39) F884S possibly damaging Het
Cd101 T C 3: 100,910,887 (GRCm39) T924A probably benign Het
Cdk12 T A 11: 98,136,295 (GRCm39) V1183E unknown Het
Clcc1 T C 3: 108,578,219 (GRCm39) M240T probably benign Het
Dnmbp C A 19: 43,891,309 (GRCm39) A153S probably damaging Het
Dus4l T C 12: 31,702,409 (GRCm39) probably benign Het
Dyrk1a A G 16: 94,485,943 (GRCm39) E430G probably benign Het
Erc1 T C 6: 119,801,432 (GRCm39) K195R probably damaging Het
Evpl T C 11: 116,113,280 (GRCm39) E1470G probably damaging Het
Extl3 A T 14: 65,314,919 (GRCm39) S88T probably damaging Het
Fam135b A T 15: 71,335,213 (GRCm39) H660Q probably benign Het
Fat1 G A 8: 45,493,613 (GRCm39) G3920S probably damaging Het
Fbxo38 A G 18: 62,666,741 (GRCm39) V144A probably damaging Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Hdlbp T C 1: 93,358,796 (GRCm39) T252A probably damaging Het
Igkv3-1 A G 6: 70,681,088 (GRCm39) S96G possibly damaging Het
Igkv4-68 G T 6: 69,281,921 (GRCm39) F83L probably damaging Het
Klhl31 T C 9: 77,557,542 (GRCm39) V86A possibly damaging Het
Lypd3 G A 7: 24,336,063 (GRCm39) G17R probably benign Het
Manba T A 3: 135,250,589 (GRCm39) D405E probably damaging Het
Map3k19 A G 1: 127,766,244 (GRCm39) S227P probably benign Het
Nras T A 3: 102,969,751 (GRCm39) C118S probably benign Het
Or52n20 A G 7: 104,320,278 (GRCm39) D123G probably damaging Het
Pde8a T C 7: 80,973,929 (GRCm39) F629L probably damaging Het
Phtf2 A G 5: 20,987,265 (GRCm39) probably benign Het
Pik3c2a A T 7: 116,017,429 (GRCm39) F109L probably benign Het
Plod3 G A 5: 137,019,075 (GRCm39) R320H probably benign Het
Ppib T C 9: 65,972,879 (GRCm39) F152L probably damaging Het
Rbm19 T C 5: 120,281,503 (GRCm39) probably benign Het
Rgs12 T A 5: 35,132,563 (GRCm39) S628R probably benign Het
Ripk1 A G 13: 34,199,251 (GRCm39) D201G probably damaging Het
St14 G T 9: 31,011,489 (GRCm39) S434* probably null Het
Tbc1d9 A G 8: 83,966,560 (GRCm39) D387G probably damaging Het
Trio A G 15: 27,838,861 (GRCm39) probably benign Het
Ttn G A 2: 76,544,215 (GRCm39) R32924C probably damaging Het
Vmn1r181 T C 7: 23,684,006 (GRCm39) V157A possibly damaging Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging Het
Other mutations in Speer4c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Speer4c2 APN 5 15,861,884 (GRCm39) utr 5 prime probably benign
IGL00088:Speer4c2 APN 5 15,861,884 (GRCm39) utr 5 prime probably benign
IGL01789:Speer4c2 APN 5 15,861,884 (GRCm39) utr 5 prime probably benign
IGL01790:Speer4c2 APN 5 15,861,884 (GRCm39) utr 5 prime probably benign
IGL01791:Speer4c2 APN 5 15,861,884 (GRCm39) utr 5 prime probably benign
IGL01792:Speer4c2 APN 5 15,861,884 (GRCm39) utr 5 prime probably benign
IGL01795:Speer4c2 APN 5 15,861,884 (GRCm39) utr 5 prime probably benign
IGL02344:Speer4c2 APN 5 15,861,884 (GRCm39) utr 5 prime probably benign
R8385:Speer4c2 UTSW 5 15,857,669 (GRCm39) missense unknown
R8990:Speer4c2 UTSW 5 15,858,598 (GRCm39) missense probably benign
Posted On 2013-11-11