Incidental Mutation 'R6214:Speer1d'
ID 503611
Institutional Source Beutler Lab
Gene Symbol Speer1d
Ensembl Gene ENSMUSG00000096846
Gene Name spermatogenesis associated glutamate (E)-rich protein 1D
Synonyms Gm8890
MMRRC Submission 044347-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6214 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 11306000-11310461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11307197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 25 (T25I)
Ref Sequence ENSEMBL: ENSMUSP00000136387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177727]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000164262
AA Change: T27I
SMART Domains Protein: ENSMUSP00000127049
Gene: ENSMUSG00000096846
AA Change: T27I

DomainStartEndE-ValueType
Pfam:Takusan 6 92 4.6e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177727
AA Change: T25I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136387
Gene: ENSMUSG00000096846
AA Change: T25I

DomainStartEndE-ValueType
Pfam:Takusan 2 90 4.2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197751
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap3 A C 4: 135,968,736 (GRCm39) D727A possibly damaging Het
Aste1 A G 9: 105,274,056 (GRCm39) K38E probably damaging Het
Atp13a5 T C 16: 29,070,159 (GRCm39) Y909C probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cd79b C A 11: 106,203,267 (GRCm39) probably null Het
Chia1 T C 3: 106,029,761 (GRCm39) F132L probably damaging Het
Cntrl A G 2: 35,019,646 (GRCm39) E491G probably benign Het
Ctdnep1 T C 11: 69,880,334 (GRCm39) F206L probably damaging Het
Dido1 T C 2: 180,303,945 (GRCm39) K1320E probably damaging Het
Dmbt1 G T 7: 130,668,463 (GRCm39) C573F possibly damaging Het
Dmtn A G 14: 70,850,776 (GRCm39) I205T probably benign Het
Eif4g3 C T 4: 137,785,314 (GRCm39) H137Y probably damaging Het
Flg2 G T 3: 93,109,166 (GRCm39) C398F possibly damaging Het
Gabbr1 A G 17: 37,380,257 (GRCm39) D604G probably damaging Het
Glis2 T A 16: 4,428,197 (GRCm39) L83* probably null Het
Glra3 A G 8: 56,444,291 (GRCm39) probably null Het
Hipk3 T C 2: 104,264,086 (GRCm39) D804G probably damaging Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Lrrc9 A T 12: 72,506,627 (GRCm39) E301D probably damaging Het
Ms4a6c T C 19: 11,448,500 (GRCm39) I11T possibly damaging Het
Myo1d A T 11: 80,670,617 (GRCm39) M1K probably null Het
Nav3 A G 10: 109,688,426 (GRCm39) L617P probably damaging Het
Or8b3b A G 9: 38,584,510 (GRCm39) S90P probably benign Het
Pcsk7 A C 9: 45,821,674 (GRCm39) N156T possibly damaging Het
Pde4d C T 13: 110,085,967 (GRCm39) S515L probably damaging Het
Pira13 A G 7: 3,824,717 (GRCm39) I554T probably damaging Het
Prom2 A G 2: 127,381,695 (GRCm39) probably null Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Scn3a T C 2: 65,325,380 (GRCm39) I1046V probably benign Het
Slc13a1 A T 6: 24,090,795 (GRCm39) Y541* probably null Het
Spen C T 4: 141,206,423 (GRCm39) E735K unknown Het
Tm6sf2 T C 8: 70,525,724 (GRCm39) V27A possibly damaging Het
Trim21 A G 7: 102,208,646 (GRCm39) S358P probably damaging Het
Ttc21a A G 9: 119,795,838 (GRCm39) Y1224C probably damaging Het
Ttn T A 2: 76,710,552 (GRCm39) probably benign Het
Vmn2r99 A G 17: 19,602,820 (GRCm39) Q525R probably benign Het
Vsig10 G A 5: 117,481,989 (GRCm39) C393Y probably damaging Het
Ywhag A G 5: 135,939,928 (GRCm39) I222T probably damaging Het
Other mutations in Speer1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02298:Speer1d APN 5 11,307,158 (GRCm39) missense probably damaging 0.99
R6215:Speer1d UTSW 5 11,307,197 (GRCm39) missense probably damaging 0.99
R6511:Speer1d UTSW 5 11,307,275 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CCATGTGGAGGCATCTCAAG -3'
(R):5'- GGGACAATCTGGTGGTACAG -3'

Sequencing Primer
(F):5'- GCCCAGAACAAACTCTTTCTGGTG -3'
(R):5'- GTGGTACAGCTTCATAGAACCC -3'
Posted On 2018-02-27