Incidental Mutation 'R0942:Speer1e'
ID 226006
Institutional Source Beutler Lab
Gene Symbol Speer1e
Ensembl Gene ENSMUSG00000095918
Gene Name spermatogenesis associated glutamate (E)-rich protein 1E
Synonyms Gm5861
MMRRC Submission 039081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R0942 (G1)
Quality Score 58
Status Validated
Chromosome 5
Chromosomal Location 11233039-11237777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11236488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 174 (T174S)
Ref Sequence ENSEMBL: ENSMUSP00000132429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168407] [ENSMUST00000171093]
AlphaFold L7N474
Predicted Effect probably benign
Transcript: ENSMUST00000168407
AA Change: T148S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000127608
Gene: ENSMUSG00000095918
AA Change: T148S

DomainStartEndE-ValueType
Pfam:Takusan 2 90 1.4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171093
AA Change: T174S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000132429
Gene: ENSMUSG00000095918
AA Change: T174S

DomainStartEndE-ValueType
Pfam:Takusan 29 115 2.1e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199415
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Acer3 T C 7: 97,906,949 (GRCm39) Y119C probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Brms1l T C 12: 55,912,742 (GRCm39) V245A probably benign Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dner T C 1: 84,563,030 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Erich3 T A 3: 154,444,788 (GRCm39) D518E probably benign Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Grb7 T C 11: 98,344,634 (GRCm39) Y346H probably damaging Het
Heg1 T C 16: 33,581,173 (GRCm39) L1192P probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Taf15 T C 11: 83,389,932 (GRCm39) I40T probably damaging Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G possibly damaging Het
Other mutations in Speer1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03197:Speer1e APN 5 11,233,080 (GRCm39) missense probably damaging 0.96
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
R9215:Speer1e UTSW 5 11,236,449 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- GGACCCTTATTGGTGTTCCAACTGC -3'
(R):5'- ACCTAGATGCTGCTCAATGTTCTGC -3'

Sequencing Primer
(F):5'- TGGGGTTATTGAGCCTATACATAAG -3'
(R):5'- AGGTCCACTTGCCAATGACTTAG -3'
Posted On 2014-08-29