Incidental Mutation 'R9215:Speer1e'
ID 699115
Institutional Source Beutler Lab
Gene Symbol Speer1e
Ensembl Gene ENSMUSG00000095918
Gene Name spermatogenesis associated glutamate (E)-rich protein 1E
Synonyms Gm5861
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R9215 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 11233039-11237777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11236449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 161 (I161F)
Ref Sequence ENSEMBL: ENSMUSP00000132429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168407] [ENSMUST00000171093]
AlphaFold L7N474
Predicted Effect possibly damaging
Transcript: ENSMUST00000168407
AA Change: I135F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127608
Gene: ENSMUSG00000095918
AA Change: I135F

DomainStartEndE-ValueType
Pfam:Takusan 2 90 1.4e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171093
AA Change: I161F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132429
Gene: ENSMUSG00000095918
AA Change: I161F

DomainStartEndE-ValueType
Pfam:Takusan 29 115 2.1e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo3 G A 9: 107,931,638 (GRCm39) A354T probably damaging Het
Ano1 A G 7: 144,149,342 (GRCm39) S840P probably damaging Het
Arap1 A G 7: 101,049,214 (GRCm39) Q923R probably benign Het
Blk T C 14: 63,610,999 (GRCm39) M448V probably damaging Het
Calhm2 C A 19: 47,121,305 (GRCm39) R288L possibly damaging Het
Card11 A T 5: 140,866,154 (GRCm39) M913K possibly damaging Het
Carf A C 1: 60,189,804 (GRCm39) E676D possibly damaging Het
Ccn5 T A 2: 163,670,966 (GRCm39) C158S probably damaging Het
Ccr2 A G 9: 123,906,023 (GRCm39) D101G probably damaging Het
Ckap2l T C 2: 129,123,826 (GRCm39) R532G possibly damaging Het
Clec1a T C 6: 129,412,134 (GRCm39) T112A possibly damaging Het
Clint1 T C 11: 45,774,578 (GRCm39) V28A probably damaging Het
Col13a1 C A 10: 61,685,990 (GRCm39) probably null Het
Cryz G T 3: 154,324,446 (GRCm39) V216F probably benign Het
Cyp1a1 G A 9: 57,609,456 (GRCm39) V386I probably benign Het
Cyp2c54 G A 19: 40,035,950 (GRCm39) T320I possibly damaging Het
Dock7 G C 4: 98,859,088 (GRCm39) N1431K unknown Het
Fam110c G T 12: 31,123,863 (GRCm39) probably benign Het
Fbn2 A T 18: 58,209,747 (GRCm39) C1045S probably damaging Het
Fbxo30 G A 10: 11,167,243 (GRCm39) R655H probably damaging Het
Fhip1b A G 7: 105,034,296 (GRCm39) L445P possibly damaging Het
Gbp2 T C 3: 142,338,036 (GRCm39) probably null Het
Hmgcll1 A G 9: 75,982,083 (GRCm39) D176G probably benign Het
Inafm1 A T 7: 16,007,055 (GRCm39) I54N probably damaging Het
Ipo9 C G 1: 135,347,033 (GRCm39) M152I probably benign Het
Khdrbs3 C T 15: 68,964,798 (GRCm39) T333M probably damaging Het
Lefty2 A G 1: 180,725,145 (GRCm39) T292A probably benign Het
Lgr5 T C 10: 115,311,085 (GRCm39) E237G probably damaging Het
Lrig2 T A 3: 104,398,324 (GRCm39) E268D probably benign Het
Mbtd1 T A 11: 93,834,628 (GRCm39) L602Q possibly damaging Het
Mtbp T C 15: 55,484,035 (GRCm39) V828A possibly damaging Het
Ncapd3 C A 9: 26,975,386 (GRCm39) Q812K possibly damaging Het
Nlrx1 T C 9: 44,165,325 (GRCm39) K857R probably benign Het
Or2b28 C T 13: 21,532,004 (GRCm39) A302V probably damaging Het
Or4d6 A T 19: 12,086,016 (GRCm39) M72K probably damaging Het
Or4k1 T C 14: 50,377,829 (GRCm39) Y89C probably benign Het
Or8b1c C T 9: 38,384,694 (GRCm39) S217F probably damaging Het
P4ha2 T C 11: 54,017,226 (GRCm39) F456L probably benign Het
Pakap T A 4: 57,709,595 (GRCm39) V180E probably damaging Het
Pard3b A G 1: 62,203,344 (GRCm39) D424G probably damaging Het
Pecam1 A G 11: 106,579,797 (GRCm39) S422P probably damaging Het
Pias2 T A 18: 77,216,677 (GRCm39) V296E probably damaging Het
Plekha5 T A 6: 140,501,733 (GRCm39) S640R possibly damaging Het
Prdx2 A G 8: 85,697,932 (GRCm39) K92E possibly damaging Het
Prl7c1 C T 13: 27,960,204 (GRCm39) E113K probably benign Het
Pxylp1 A T 9: 96,707,111 (GRCm39) V357D possibly damaging Het
Rbm12b2 T C 4: 12,095,471 (GRCm39) F777L probably damaging Het
Rbm4b G T 19: 4,812,268 (GRCm39) V226F possibly damaging Het
Rel T C 11: 23,698,870 (GRCm39) D139G probably benign Het
Rnf214 C T 9: 45,816,129 (GRCm39) D28N probably benign Het
Slc26a5 A G 5: 22,042,285 (GRCm39) S224P possibly damaging Het
Slc39a6 C T 18: 24,732,323 (GRCm39) A322T probably benign Het
Slc47a1 T C 11: 61,262,647 (GRCm39) I81V probably benign Het
Smad5 T A 13: 56,880,815 (GRCm39) C310S probably damaging Het
Sparcl1 T C 5: 104,240,701 (GRCm39) D241G probably benign Het
Spata16 C T 3: 26,721,994 (GRCm39) Q172* probably null Het
Spata31d1d G T 13: 59,875,823 (GRCm39) Q571K probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Stt3b A T 9: 115,085,223 (GRCm39) F381I probably damaging Het
Tjp1 T C 7: 64,962,595 (GRCm39) Y1194C probably benign Het
Tmem132b T C 5: 125,864,180 (GRCm39) I762T probably damaging Het
Tnxb A G 17: 34,891,564 (GRCm39) T636A unknown Het
Trat1 T A 16: 48,574,637 (GRCm39) R54* probably null Het
Tubb4a A T 17: 57,387,769 (GRCm39) V419E probably damaging Het
Txn2 A T 15: 77,803,965 (GRCm39) W84R unknown Het
Uggt2 A G 14: 119,279,006 (GRCm39) Y834H probably damaging Het
Upp2 T C 2: 58,670,065 (GRCm39) L257P probably damaging Het
Vmn2r67 C T 7: 84,802,008 (GRCm39) V98I probably benign Het
Zfp354c T C 11: 50,706,666 (GRCm39) I136M probably benign Het
Other mutations in Speer1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03197:Speer1e APN 5 11,233,080 (GRCm39) missense probably damaging 0.96
R0942:Speer1e UTSW 5 11,236,488 (GRCm39) missense probably benign 0.06
R1731:Speer1e UTSW 5 11,233,080 (GRCm39) missense probably damaging 0.96
R4751:Speer1e UTSW 5 11,236,458 (GRCm39) missense probably damaging 0.99
R4990:Speer1e UTSW 5 11,236,381 (GRCm39) missense probably damaging 0.96
R7222:Speer1e UTSW 5 11,233,080 (GRCm39) missense probably damaging 0.96
R7411:Speer1e UTSW 5 11,233,116 (GRCm39) critical splice donor site probably null
R7790:Speer1e UTSW 5 11,234,185 (GRCm39) missense probably benign
R8725:Speer1e UTSW 5 11,236,408 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- ATGTCTTCATGGGAGCCTGG -3'
(R):5'- AACAACTACATGCCAAGAGGTG -3'

Sequencing Primer
(F):5'- AGCCTGGGTCCTGGTGG -3'
(R):5'- CCAAGAGGTGGGTGACTGTTTG -3'
Posted On 2022-02-07