Incidental Mutation 'IGL02721:Speer1c'
ID 304995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Speer1c
Ensembl Gene ENSMUSG00000069355
Gene Name spermatogenesis associated glutamate (E)-rich protein 1C
Synonyms Gm5152
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # IGL02721
Quality Score
Status
Chromosome 5
Chromosomal Location 10292008-10296493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10293883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 106 (K106E)
Ref Sequence ENSEMBL: ENSMUSP00000085997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088625]
AlphaFold G3XA03
Predicted Effect unknown
Transcript: ENSMUST00000081735
AA Change: K94E
SMART Domains Protein: ENSMUSP00000080432
Gene: ENSMUSG00000069355
AA Change: K94E

DomainStartEndE-ValueType
Pfam:Takusan 39 125 9.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088625
AA Change: K106E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085997
Gene: ENSMUSG00000069355
AA Change: K106E

DomainStartEndE-ValueType
Pfam:Takusan 50 136 4.2e-24 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,888,124 (GRCm39) I398L probably benign Het
4931414P19Rik A G 14: 54,823,202 (GRCm39) S332P probably damaging Het
Abca7 T C 10: 79,849,469 (GRCm39) S1877P possibly damaging Het
Adora2b G T 11: 62,155,931 (GRCm39) A127S probably damaging Het
Ahnak A G 19: 8,987,071 (GRCm39) K2785R probably benign Het
Anapc2 G A 2: 25,164,680 (GRCm39) W21* probably null Het
Atp7b A G 8: 22,512,493 (GRCm39) S457P probably benign Het
Catsperb A G 12: 101,591,556 (GRCm39) Q1046R probably null Het
Comp A T 8: 70,828,731 (GRCm39) N188Y probably damaging Het
Crnkl1 A T 2: 145,765,801 (GRCm39) I423K possibly damaging Het
Crtap A T 9: 114,210,707 (GRCm39) V289E probably damaging Het
Ctnna2 T C 6: 76,958,852 (GRCm39) N454S probably damaging Het
Dnah5 A T 15: 28,234,389 (GRCm39) probably null Het
Dstyk T G 1: 132,377,054 (GRCm39) V220G probably benign Het
E230025N22Rik C T 18: 36,828,664 (GRCm39) V5M probably damaging Het
Fam111a T G 19: 12,564,336 (GRCm39) N28K probably benign Het
Fbxo32 A G 15: 58,046,358 (GRCm39) I284T possibly damaging Het
Fgb A C 3: 82,950,674 (GRCm39) V360G possibly damaging Het
Gm3404 A T 5: 146,463,738 (GRCm39) R128* probably null Het
Hal G T 10: 93,343,360 (GRCm39) G535* probably null Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Igsf5 T A 16: 96,192,222 (GRCm39) S274T probably damaging Het
Kdm7a C T 6: 39,150,371 (GRCm39) A134T possibly damaging Het
Klhl25 G T 7: 75,516,648 (GRCm39) W518L probably damaging Het
Map1a A T 2: 121,134,518 (GRCm39) D1778V probably benign Het
Nif3l1 A G 1: 58,497,008 (GRCm39) D311G probably damaging Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup54 A T 5: 92,565,716 (GRCm39) I406N possibly damaging Het
Or10ab5 G T 7: 108,245,582 (GRCm39) S67* probably null Het
Or2y1d T A 11: 49,321,468 (GRCm39) L55* probably null Het
Or6c210 C T 10: 129,495,824 (GRCm39) P50S probably benign Het
Or6c211 A T 10: 129,505,992 (GRCm39) I132N probably benign Het
Pcdhb18 T A 18: 37,623,084 (GRCm39) M138K probably benign Het
Pik3c2g A G 6: 139,682,699 (GRCm39) T27A probably benign Het
Plekhb2 A G 1: 34,908,445 (GRCm39) N163S probably benign Het
Ros1 G A 10: 52,048,927 (GRCm39) probably benign Het
Sh3gl1 A G 17: 56,324,577 (GRCm39) L357P possibly damaging Het
Skint5 T A 4: 113,799,746 (GRCm39) D141V probably damaging Het
Slc10a5 A G 3: 10,399,595 (GRCm39) V355A probably benign Het
Ssh2 G T 11: 77,345,551 (GRCm39) G1179* probably null Het
Syde2 A G 3: 145,707,759 (GRCm39) N566S probably damaging Het
Sytl1 T C 4: 132,986,189 (GRCm39) R149G probably benign Het
Tnpo2 A G 8: 85,781,319 (GRCm39) probably null Het
Top2b T C 14: 16,409,236 (GRCm38) L793P probably damaging Het
U2surp T A 9: 95,356,488 (GRCm39) E789D probably benign Het
Vps13c G A 9: 67,871,431 (GRCm39) probably benign Het
Zbtb34 C T 2: 33,301,270 (GRCm39) G424R probably damaging Het
Zfhx4 A G 3: 5,308,367 (GRCm39) D531G possibly damaging Het
Zfp787 C T 7: 6,135,463 (GRCm39) probably null Het
Other mutations in Speer1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Speer1c APN 5 10,295,297 (GRCm39) missense probably damaging 0.96
R1739:Speer1c UTSW 5 10,295,171 (GRCm39) missense possibly damaging 0.75
R7113:Speer1c UTSW 5 10,292,977 (GRCm39) missense
R7174:Speer1c UTSW 5 10,295,237 (GRCm39) missense probably damaging 1.00
R7275:Speer1c UTSW 5 10,295,192 (GRCm39) missense
Z1088:Speer1c UTSW 5 10,293,097 (GRCm39) unclassified probably benign
Posted On 2015-04-16