Incidental Mutation 'R1086:Speer4e2'
ID 239204
Institutional Source Beutler Lab
Gene Symbol Speer4e2
Ensembl Gene ENSMUSG00000072188
Gene Name spermatogenesis associated glutamate (E)-rich protein 4E2
Synonyms Gm10354
MMRRC Submission 039172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R1086 (G1)
Quality Score 20
Status Validated
Chromosome 5
Chromosomal Location 15024158-15028969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15028804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 29 (D29G)
Ref Sequence ENSEMBL: ENSMUSP00000094716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096953]
AlphaFold K7N6A0
Predicted Effect probably benign
Transcript: ENSMUST00000096953
AA Change: D29G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094716
Gene: ENSMUSG00000072188
AA Change: D29G

DomainStartEndE-ValueType
Pfam:Takusan 50 134 2.3e-29 PFAM
low complexity region 248 255 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.4%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,334,220 (GRCm39) probably benign Het
Agbl4 G C 4: 110,335,791 (GRCm39) probably benign Het
Ano6 T C 15: 95,847,843 (GRCm39) probably null Het
B3gnt8 C G 7: 25,327,736 (GRCm39) N55K probably damaging Het
Brox A G 1: 183,064,052 (GRCm39) Y252H probably damaging Het
Cfap100 T A 6: 90,380,890 (GRCm39) K605* probably null Het
Chd7 A G 4: 8,866,458 (GRCm39) T877A probably benign Het
Csmd3 T A 15: 47,559,151 (GRCm39) I2371F probably damaging Het
Cwc22 T A 2: 77,754,824 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,505,422 (GRCm39) D347E probably damaging Het
Dab1 C A 4: 104,185,769 (GRCm39) probably benign Het
Dis3l2 G A 1: 86,917,871 (GRCm39) D493N probably benign Het
Got1l1 A G 8: 27,688,007 (GRCm39) W341R probably damaging Het
Gps2 A G 11: 69,806,050 (GRCm39) probably benign Het
Haus1 A C 18: 77,854,553 (GRCm39) probably benign Het
Itgam T C 7: 127,679,436 (GRCm39) S193P probably damaging Het
Itpr2 C A 6: 146,251,543 (GRCm39) A1034S probably damaging Het
Lrp5 T C 19: 3,699,476 (GRCm39) R270G probably benign Het
Ltbr G A 6: 125,289,703 (GRCm39) probably benign Het
Mdga2 T C 12: 66,552,876 (GRCm39) probably benign Het
Mug1 T A 6: 121,862,813 (GRCm39) M1387K probably damaging Het
Nwd2 C T 5: 63,963,917 (GRCm39) S1167L probably damaging Het
Or5h19 T A 16: 58,856,626 (GRCm39) H158L probably damaging Het
Pfkm T C 15: 98,029,546 (GRCm39) V719A probably benign Het
Ppfia3 C G 7: 45,011,182 (GRCm39) G16A probably damaging Het
Ppp2r3d G A 9: 101,031,021 (GRCm39) T245I possibly damaging Het
Ptprd T C 4: 76,051,495 (GRCm39) T256A probably damaging Het
Ptprg C T 14: 11,952,706 (GRCm38) probably benign Het
Rabgap1 T C 2: 37,359,458 (GRCm39) V7A probably damaging Het
Rnh1 T G 7: 140,743,282 (GRCm39) Q231P probably benign Het
Rwdd2b C T 16: 87,233,446 (GRCm39) probably benign Het
Saal1 T C 7: 46,338,883 (GRCm39) probably benign Het
Sap130 G A 18: 31,783,673 (GRCm39) probably benign Het
Serpina1d T G 12: 103,730,046 (GRCm39) M379L probably benign Het
Skor2 A C 18: 76,946,994 (GRCm39) S239R unknown Het
Slc16a13 A G 11: 70,109,850 (GRCm39) L217P probably damaging Het
Slc18b1 T C 10: 23,679,693 (GRCm39) M74T probably benign Het
Tacc2 A T 7: 130,228,227 (GRCm39) E1637D possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tg A C 15: 66,555,911 (GRCm39) I868L probably benign Het
Ttll5 G A 12: 85,937,853 (GRCm39) V395I possibly damaging Het
Uba6 C A 5: 86,275,578 (GRCm39) C739F probably benign Het
Unc5d A C 8: 29,365,658 (GRCm39) V109G possibly damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp462 G T 4: 55,013,000 (GRCm39) K507N probably damaging Het
Other mutations in Speer4e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4305001:Speer4e2 UTSW 5 15,028,804 (GRCm39) missense probably benign
R4079:Speer4e2 UTSW 5 15,027,663 (GRCm39) missense probably damaging 1.00
R4757:Speer4e2 UTSW 5 15,026,222 (GRCm39) missense probably benign 0.16
R4820:Speer4e2 UTSW 5 15,026,225 (GRCm39) missense probably benign
R8949:Speer4e2 UTSW 5 15,026,212 (GRCm39) critical splice donor site probably null
R9229:Speer4e2 UTSW 5 15,027,718 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATAACAGCTTTGACCTTGCCAACG -3'
(R):5'- TGTAGTCCATGACATCAGCAGTCCC -3'

Sequencing Primer
(F):5'- TGCCAACGCCTGCCTTAG -3'
(R):5'- ACATTCTATTGTGTCCTGGAGAG -3'
Posted On 2014-10-03