Incidental Mutation 'R6847:Speer1a'
ID 534803
Institutional Source Beutler Lab
Gene Symbol Speer1a
Ensembl Gene ENSMUSG00000095829
Gene Name spermatogenesis associated glutamate (E)-rich protein 1A
Synonyms SPEER-1, Speer1, Speer1-ps1
MMRRC Submission 045021-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6847 (G1)
Quality Score 200.009
Status Not validated
Chromosome 5
Chromosomal Location 11391483-11396253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11394134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 78 (V78M)
Ref Sequence ENSEMBL: ENSMUSP00000136498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172106] [ENSMUST00000179482]
AlphaFold F6X687
Predicted Effect possibly damaging
Transcript: ENSMUST00000172106
AA Change: V81M

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132617
Gene: ENSMUSG00000095829
AA Change: V81M

DomainStartEndE-ValueType
Pfam:Takusan 29 117 1.3e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179482
AA Change: V78M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136498
Gene: ENSMUSG00000095829
AA Change: V78M

DomainStartEndE-ValueType
Pfam:Takusan 2 90 8.7e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,021,465 (GRCm39) I675T probably benign Het
Adgrb3 A T 1: 25,133,003 (GRCm39) M1121K probably benign Het
Ak9 A G 10: 41,233,797 (GRCm39) probably null Het
Akr1c6 T A 13: 4,488,497 (GRCm39) C34* probably null Het
Akt3 G A 1: 176,859,225 (GRCm39) P449S probably damaging Het
Atg2b A T 12: 105,602,047 (GRCm39) V1643E probably damaging Het
Atp2c1 T C 9: 105,295,778 (GRCm39) I819V probably damaging Het
Casp3 C T 8: 47,089,301 (GRCm39) A183V probably benign Het
Cdk1 A T 10: 69,174,358 (GRCm39) D288E probably benign Het
Cep131 G A 11: 119,956,517 (GRCm39) R944W probably damaging Het
Cep290 A G 10: 100,399,281 (GRCm39) K2268E probably damaging Het
Crybg2 A G 4: 133,792,857 (GRCm39) E164G probably benign Het
Cubn A C 2: 13,449,064 (GRCm39) probably null Het
Dnajc14 A T 10: 128,652,656 (GRCm39) E571D possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eef1b2 A G 1: 63,217,648 (GRCm39) E44G probably benign Het
Eml6 C T 11: 29,768,447 (GRCm39) V747I probably benign Het
Ext1 T G 15: 53,208,550 (GRCm39) Q70H probably benign Het
Gbp2b T A 3: 142,303,940 (GRCm39) C12S probably damaging Het
Gbp8 A C 5: 105,179,093 (GRCm39) D135E probably benign Het
Gm12886 A T 4: 121,273,916 (GRCm39) L100* probably null Het
Gpatch1 A T 7: 34,992,983 (GRCm39) probably null Het
Ifit3b A T 19: 34,588,925 (GRCm39) M34L probably benign Het
Il12a G T 3: 68,602,899 (GRCm39) D160Y probably damaging Het
Klhl2 A G 8: 65,212,816 (GRCm39) L241P probably damaging Het
Krt80 T C 15: 101,256,610 (GRCm39) E195G probably benign Het
Lgi1 T C 19: 38,289,738 (GRCm39) V268A probably damaging Het
Lrrfip1 A T 1: 91,032,850 (GRCm39) D216V probably damaging Het
Meis3 A G 7: 15,917,789 (GRCm39) N314S probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A T 16: 48,965,451 (GRCm39) I1119F possibly damaging Het
Nav2 A T 7: 49,141,204 (GRCm39) Q916H probably benign Het
Ncam2 A T 16: 81,229,606 (GRCm39) Q22L probably damaging Het
Or5b118 A T 19: 13,448,402 (GRCm39) I23F probably benign Het
P2rx4 G A 5: 122,865,814 (GRCm39) V329M probably damaging Het
Peg10 A G 6: 4,754,279 (GRCm39) probably benign Het
Pgp T C 17: 24,690,375 (GRCm39) L267P probably damaging Het
Pou2af2 G A 9: 51,201,504 (GRCm39) T184M probably damaging Het
Prdm2 A C 4: 142,859,520 (GRCm39) S1257A probably benign Het
Prr12 T C 7: 44,695,164 (GRCm39) N1434S unknown Het
Psmc3ip A T 11: 100,985,999 (GRCm39) H40Q probably damaging Het
Ptprc A T 1: 138,016,283 (GRCm39) N526K probably damaging Het
Sec63 T A 10: 42,667,249 (GRCm39) D138E probably damaging Het
Serpinb13 A G 1: 106,926,663 (GRCm39) N220D probably benign Het
Siva1 G A 12: 112,611,344 (GRCm39) probably benign Het
Slc39a12 A G 2: 14,454,728 (GRCm39) H546R probably damaging Het
Slc7a1 G A 5: 148,271,468 (GRCm39) A497V probably benign Het
Smg5 G T 3: 88,249,859 (GRCm39) K95N probably damaging Het
Traj50 T A 14: 54,405,101 (GRCm39) probably benign Het
Ubr3 T C 2: 69,813,472 (GRCm39) V1261A probably damaging Het
Zc3h11a A T 1: 133,566,700 (GRCm39) probably null Het
Other mutations in Speer1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7390:Speer1a UTSW 5 11,394,879 (GRCm39) missense probably benign 0.28
R7545:Speer1a UTSW 5 11,394,884 (GRCm39) missense possibly damaging 0.61
R8833:Speer1a UTSW 5 11,394,205 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAAAGCTGAAGATCATCCCAG -3'
(R):5'- TTATCCCAAGGCACACTGATGG -3'

Sequencing Primer
(F):5'- CCCAGTATATAGAATCCAGAATGTGC -3'
(R):5'- GCACACTGATGGCTAAAGGC -3'
Posted On 2018-09-12