Incidental Mutation 'R8281:Speer1h'
ID 638189
Institutional Source Beutler Lab
Gene Symbol Speer1h
Ensembl Gene ENSMUSG00000091903
Gene Name spermatogenesis associated glutamate (E)-rich protein 1H
Synonyms Gm6460
MMRRC Submission 067704-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8281 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 11644923-11649447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11647646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 128 (M128K)
Ref Sequence ENSEMBL: ENSMUSP00000085987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088616] [ENSMUST00000163787]
AlphaFold F6YJZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000088616
AA Change: M128K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085987
Gene: ENSMUSG00000091903
AA Change: M128K

DomainStartEndE-ValueType
Pfam:Takusan 47 135 2.4e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163787
AA Change: M86K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131216
Gene: ENSMUSG00000091903
AA Change: M86K

DomainStartEndE-ValueType
Pfam:Takusan 5 93 1.5e-30 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 G A 14: 68,745,334 (GRCm39) T630I possibly damaging Het
Adgrf3 T C 5: 30,402,301 (GRCm39) S576G possibly damaging Het
Asxl1 A G 2: 153,241,321 (GRCm39) R625G probably damaging Het
Atp1a1 A G 3: 101,486,940 (GRCm39) F916L probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
Ccdc168 T G 1: 44,095,698 (GRCm39) D1800A possibly damaging Het
Chd9 A G 8: 91,763,225 (GRCm39) D2350G probably damaging Het
Cic G A 7: 24,971,249 (GRCm39) V327I probably benign Het
Crym T A 7: 119,801,250 (GRCm39) probably benign Het
Cyp3a13 G C 5: 137,892,559 (GRCm39) S495C probably benign Het
D5Ertd579e A T 5: 36,770,664 (GRCm39) F137I Het
Dip2a T C 10: 76,112,438 (GRCm39) T1087A probably damaging Het
Drc7 G A 8: 95,788,805 (GRCm39) E288K possibly damaging Het
Epb41l4a T C 18: 34,011,998 (GRCm39) E174G probably damaging Het
Ern2 T C 7: 121,769,483 (GRCm39) R848G probably damaging Het
F13b G T 1: 139,438,689 (GRCm39) R364S probably benign Het
F2rl1 A G 13: 95,650,585 (GRCm39) L99P probably damaging Het
Fam193a C A 5: 34,600,780 (GRCm39) N171K unknown Het
Fst A G 13: 114,591,777 (GRCm39) S201P probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm8232 A G 14: 44,674,548 (GRCm39) I182V Het
Iqca1l T A 5: 24,754,008 (GRCm39) H417L probably benign Het
Kalrn C T 16: 33,855,431 (GRCm39) W1956* probably null Het
Klk1b16 A G 7: 43,790,971 (GRCm39) M258V probably benign Het
Lta4h G T 10: 93,289,456 (GRCm39) D29Y probably damaging Het
Marchf7 C T 2: 60,064,873 (GRCm39) S383L probably benign Het
Mob3c T C 4: 115,688,635 (GRCm39) I56T probably benign Het
Msl2 T C 9: 100,978,894 (GRCm39) S423P probably benign Het
Otop3 T C 11: 115,235,901 (GRCm39) I511T possibly damaging Het
Pbld2 T G 10: 62,883,805 (GRCm39) L90R probably damaging Het
Pcdh8 A G 14: 80,006,919 (GRCm39) V548A probably damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Plch2 T A 4: 155,091,430 (GRCm39) M228L probably benign Het
Prkdc T C 16: 15,523,117 (GRCm39) C1180R probably damaging Het
Rasl2-9 A T 7: 5,128,351 (GRCm39) L193* probably null Het
Rbp3 A G 14: 33,678,320 (GRCm39) K756R probably benign Het
Rp1 T C 1: 4,418,139 (GRCm39) E991G probably damaging Het
Slc12a7 G A 13: 73,938,796 (GRCm39) R191H probably damaging Het
Spaca6 A G 17: 18,052,321 (GRCm39) N87S possibly damaging Het
Spata31e5 C T 1: 28,817,225 (GRCm39) C269Y possibly damaging Het
Stab2 A T 10: 86,709,728 (GRCm39) V1639E probably damaging Het
Thpo T C 16: 20,544,525 (GRCm39) N235S possibly damaging Het
Tmem63b T A 17: 45,971,722 (GRCm39) H831L probably benign Het
Tomm20l T C 12: 71,158,241 (GRCm39) V8A probably benign Het
Trav13-5 A G 14: 54,032,918 (GRCm39) R3G possibly damaging Het
Vill T C 9: 118,887,547 (GRCm39) S104P probably damaging Het
Other mutations in Speer1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7134:Speer1h UTSW 5 11,647,706 (GRCm39) missense possibly damaging 0.63
R7555:Speer1h UTSW 5 11,647,579 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAATGTGCTTTCCATGGCTG -3'
(R):5'- AGGATGCCTGGACAATGCTG -3'

Sequencing Primer
(F):5'- TGGGGTAGTCCAGCACTCAG -3'
(R):5'- GTCTATTATCCCAAGGCACACTGATG -3'
Posted On 2020-07-28