Incidental Mutation 'IGL03024:Speer2'
ID408074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Speer2
Ensembl Gene ENSMUSG00000063163
Gene Namespermatogenesis associated glutamate (E)-rich protein 2
SynonymsSPEER-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL03024
Quality Score
Status
Chromosome16
Chromosomal Location69856874-69863744 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69858115 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 154 (H154R)
Ref Sequence ENSEMBL: ENSMUSP00000075821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076500] [ENSMUST00000164146] [ENSMUST00000166256]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076500
AA Change: H154R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163
AA Change: H154R

DomainStartEndE-ValueType
Pfam:Takusan 51 137 6.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164146
SMART Domains Protein: ENSMUSP00000126059
Gene: ENSMUSG00000063163

DomainStartEndE-ValueType
Pfam:Takusan 33 121 1.9e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166256
SMART Domains Protein: ENSMUSP00000130270
Gene: ENSMUSG00000063163

DomainStartEndE-ValueType
Pfam:Takusan 1 49 2.3e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 8,993,632 F257L probably benign Het
Aaas A G 15: 102,350,491 probably benign Het
AI661453 C T 17: 47,446,588 R57W probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bahd1 T C 2: 118,916,116 V72A probably damaging Het
Bcl3 A G 7: 19,809,134 probably benign Het
Blnk A T 19: 40,994,002 probably benign Het
Cd81 T C 7: 143,067,352 I230T probably benign Het
Cdc20b A T 13: 113,091,042 R485S possibly damaging Het
Cenpp C A 13: 49,464,254 A273S probably benign Het
Cep295 A G 9: 15,325,572 V2022A probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cfap61 C A 2: 145,939,999 probably benign Het
Col8a1 T A 16: 57,628,364 H261L unknown Het
Cyp2j5 A T 4: 96,629,523 M484K probably benign Het
D930020B18Rik T C 10: 121,685,622 probably benign Het
Dhdds A T 4: 133,982,849 L203Q probably damaging Het
Dusp6 A G 10: 99,266,294 T381A probably damaging Het
Fnbp4 A G 2: 90,751,179 D192G probably benign Het
Gbp2 G T 3: 142,632,019 V299F probably damaging Het
Gfpt1 G T 6: 87,053,831 V66F probably damaging Het
Heatr1 T C 13: 12,407,509 probably benign Het
Ikbkap A G 4: 56,774,686 probably null Het
Irf8 T A 8: 120,753,358 S112T probably damaging Het
Jmy G T 13: 93,499,199 N36K probably damaging Het
Kcnt2 T C 1: 140,570,455 I866T probably benign Het
Kif1c A T 11: 70,705,189 M210L probably damaging Het
Kng1 G A 16: 23,074,692 V272I possibly damaging Het
Lrig2 A C 3: 104,494,073 M166R probably damaging Het
Mastl A G 2: 23,139,919 L265P probably damaging Het
Mmp27 A G 9: 7,581,376 T547A probably benign Het
Myh4 T C 11: 67,248,479 C541R probably damaging Het
Naip2 A T 13: 100,189,354 F15L possibly damaging Het
Nipal1 G T 5: 72,663,625 probably null Het
Nrp2 A T 1: 62,771,734 N645Y probably damaging Het
Olfr1284 T A 2: 111,379,590 F197I possibly damaging Het
Olfr348 T A 2: 36,786,846 F107Y possibly damaging Het
Olfr39 T A 9: 20,285,984 M103K probably benign Het
Plcl1 T A 1: 55,695,787 S96T probably damaging Het
Prl2c1 A C 13: 27,856,541 D139A probably benign Het
Prmt5 A T 14: 54,516,598 M43K possibly damaging Het
Ptpn21 T A 12: 98,680,056 M1048L probably benign Het
Ptprq T C 10: 107,685,566 E653G possibly damaging Het
Rbm6 A G 9: 107,787,368 S689P probably damaging Het
Rtn3 A G 19: 7,483,090 probably benign Het
Shoc2 T C 19: 54,003,027 I241T probably benign Het
Sipa1 A T 19: 5,656,161 D380E probably damaging Het
Slc1a6 T C 10: 78,814,608 V560A probably benign Het
Tlk1 A T 2: 70,746,036 C247* probably null Het
Trim15 A G 17: 36,866,893 L70P probably damaging Het
Ttc9b T C 7: 27,654,933 L148P probably damaging Het
Vwa8 C T 14: 78,995,098 P627S probably benign Het
Other mutations in Speer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Speer2 APN 16 69860518 missense probably benign 0.01
IGL01115:Speer2 APN 16 69861651 nonsense probably null
IGL01694:Speer2 APN 16 69858112 missense probably damaging 0.98
IGL01694:Speer2 APN 16 69858113 missense probably damaging 1.00
IGL02738:Speer2 APN 16 69861712 missense probably benign
IGL03062:Speer2 APN 16 69857977 missense probably damaging 0.96
R0054:Speer2 UTSW 16 69858752 missense probably damaging 0.99
R1248:Speer2 UTSW 16 69857067 unclassified probably null
R1952:Speer2 UTSW 16 69857164 missense probably damaging 0.96
R1993:Speer2 UTSW 16 69858077 missense probably benign 0.01
R1995:Speer2 UTSW 16 69858077 missense probably benign 0.01
R2063:Speer2 UTSW 16 69860497 missense probably benign 0.02
R2155:Speer2 UTSW 16 69860597 missense possibly damaging 0.63
R2216:Speer2 UTSW 16 69858842 missense possibly damaging 0.94
R4547:Speer2 UTSW 16 69858849 missense probably damaging 0.98
R4548:Speer2 UTSW 16 69858849 missense probably damaging 0.98
R4625:Speer2 UTSW 16 69858754 nonsense probably null
R4692:Speer2 UTSW 16 69857972 missense possibly damaging 0.91
R4841:Speer2 UTSW 16 69858100 missense probably benign 0.26
R4842:Speer2 UTSW 16 69858100 missense probably benign 0.26
R5035:Speer2 UTSW 16 69857941 critical splice donor site probably null
R5133:Speer2 UTSW 16 69858820 missense probably null 0.06
R5812:Speer2 UTSW 16 69858895 missense possibly damaging 0.82
R6348:Speer2 UTSW 16 69858007 missense possibly damaging 0.83
R6854:Speer2 UTSW 16 69858887 missense probably damaging 0.96
R7446:Speer2 UTSW 16 69858077 missense possibly damaging 0.82
R8068:Speer2 UTSW 16 69860524 missense possibly damaging 0.84
Posted On2016-08-02