Incidental Mutation 'IGL03301:Speer3'
ID416210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Speer3
Ensembl Gene ENSMUSG00000067855
Gene Namespermatogenesis associated glutamate (E)-rich protein 3
SynonymsSPEER-3, 4933405P08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL03301
Quality Score
Status
Chromosome5
Chromosomal Location13791619-13796820 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13795433 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 160 (L160H)
Ref Sequence ENSEMBL: ENSMUSP00000115668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124677]
Predicted Effect probably damaging
Transcript: ENSMUST00000124677
AA Change: L160H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115668
Gene: ENSMUSG00000067855
AA Change: L160H

DomainStartEndE-ValueType
Pfam:Takusan 48 134 2.3e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199961
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,707,404 E418G probably damaging Het
Arl14 T C 3: 69,222,943 F141S probably damaging Het
C1s1 A T 6: 124,541,324 probably benign Het
Cilp T C 9: 65,280,217 V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 I129K probably benign Het
Ctdp1 G A 18: 80,449,634 Q549* probably null Het
Cyp2ab1 T A 16: 20,313,799 I250F possibly damaging Het
Dmd G A X: 83,908,514 R1765Q probably damaging Het
Dnah1 C T 14: 31,292,692 G1739R probably damaging Het
Eml6 T C 11: 29,764,083 K1350E probably benign Het
Ephx4 C A 5: 107,426,864 T256K probably benign Het
Fnd3c2 G T X: 106,252,263 Q49K probably benign Het
Heatr1 G T 13: 12,434,205 G1889W probably damaging Het
Igkv19-93 A T 6: 68,736,481 W55R probably damaging Het
Jak1 T C 4: 101,175,173 Y412C probably damaging Het
Moxd1 A T 10: 24,279,484 N261I probably damaging Het
Mrgpra1 T C 7: 47,335,416 N172D probably benign Het
Papolg T C 11: 23,874,503 N293S probably benign Het
Piezo2 A G 18: 63,027,704 S2294P probably damaging Het
Ppp3cb A T 14: 20,523,984 V262D probably damaging Het
Rhox7a A G X: 37,840,011 T235A probably benign Het
Saal1 A G 7: 46,702,520 probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc22a2 A G 17: 12,606,039 R263G probably damaging Het
Tmcc2 T C 1: 132,360,819 M377V possibly damaging Het
Tsen2 T G 6: 115,568,771 Y341D probably damaging Het
Vmn2r13 A T 5: 109,158,089 V541D probably damaging Het
Vmn2r15 A G 5: 109,297,355 probably null Het
Zfp711 T C X: 112,633,401 Y710H probably damaging Het
Zmiz2 C T 11: 6,401,170 T566M probably damaging Het
Other mutations in Speer3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Speer3 APN 5 13793222 nonsense probably null
IGL02730:Speer3 APN 5 13793271 missense probably benign
IGL03192:Speer3 APN 5 13791688 missense possibly damaging 0.93
R1623:Speer3 UTSW 5 13796321 missense probably benign
R3028:Speer3 UTSW 5 13795431 missense probably damaging 0.99
R4091:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4092:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4368:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4369:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4405:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4450:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4509:Speer3 UTSW 5 13796354 missense possibly damaging 0.72
R4594:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4702:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R5096:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R5508:Speer3 UTSW 5 13794664 missense probably damaging 0.97
R5583:Speer3 UTSW 5 13794768 critical splice donor site probably null
R6061:Speer3 UTSW 5 13794691 missense possibly damaging 0.88
R6337:Speer3 UTSW 5 13793355 missense probably damaging 0.96
R6518:Speer3 UTSW 5 13795448 missense possibly damaging 0.66
R7503:Speer3 UTSW 5 13793334 missense probably benign 0.30
Posted On2016-08-02