Incidental Mutation 'IGL00869:Speer4b'
ID14207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Speer4b
Ensembl Gene ENSMUSG00000048703
Gene Namespermatogenesis associated glutamate (E)-rich protein 4B
Synonyms1700081O22Rik, SPEER-4B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL00869
Quality Score
Status
Chromosome5
Chromosomal Location27495639-27501438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27498718 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 141 (K141R)
Ref Sequence ENSEMBL: ENSMUSP00000062903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053257] [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]
Predicted Effect probably damaging
Transcript: ENSMUST00000053257
AA Change: K141R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062903
Gene: ENSMUSG00000048703
AA Change: K141R

DomainStartEndE-ValueType
Pfam:Takusan 50 134 9.6e-27 PFAM
low complexity region 154 168 N/A INTRINSIC
low complexity region 235 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071500
SMART Domains Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
Pfam:DPPIV_N 134 500 7.2e-114 PFAM
Pfam:PD40 365 402 1.1e-5 PFAM
Pfam:Peptidase_S9 579 789 2.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101471
SMART Domains Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
Pfam:DPPIV_N 133 499 2.6e-114 PFAM
Pfam:PD40 364 401 9.3e-6 PFAM
Pfam:Peptidase_S9 578 788 1.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120555
SMART Domains Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Pfam:DPPIV_N 131 497 2.6e-114 PFAM
Pfam:PD40 362 399 9.2e-6 PFAM
Pfam:Peptidase_S9 576 786 1.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122171
SMART Domains Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
transmembrane domain 90 112 N/A INTRINSIC
Pfam:DPPIV_N 189 555 6.4e-113 PFAM
Pfam:PD40 425 457 1.1e-4 PFAM
Pfam:Peptidase_S9 634 844 4.3e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124535
Predicted Effect unknown
Transcript: ENSMUST00000155721
AA Change: K139R
SMART Domains Protein: ENSMUSP00000122872
Gene: ENSMUSG00000048703
AA Change: K139R

DomainStartEndE-ValueType
Pfam:Takusan 49 133 6.2e-27 PFAM
low complexity region 153 167 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a T C 2: 113,834,826 T476A probably damaging Het
AW551984 A G 9: 39,593,434 probably benign Het
Gcn1l1 T A 5: 115,588,143 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Il1f6 A G 2: 24,216,580 T59A probably benign Het
Nrm A G 17: 35,864,755 H251R probably benign Het
Sp7 G T 15: 102,358,651 A240E probably benign Het
Tmem132c C T 5: 127,563,242 H826Y possibly damaging Het
Other mutations in Speer4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Speer4b APN 5 27501274 missense probably damaging 1.00
IGL01343:Speer4b APN 5 27497883 missense probably benign
R1586:Speer4b UTSW 5 27497013 missense probably damaging 0.98
R1772:Speer4b UTSW 5 27500238 splice site probably benign
R4239:Speer4b UTSW 5 27501313 missense probably benign 0.17
R4585:Speer4b UTSW 5 27498038 missense probably null 1.00
R4586:Speer4b UTSW 5 27498038 missense probably null 1.00
R4659:Speer4b UTSW 5 27497895 missense probably benign
R4915:Speer4b UTSW 5 27500136 missense probably benign 0.00
R4927:Speer4b UTSW 5 27501265 missense probably damaging 0.97
R5619:Speer4b UTSW 5 27498817 missense possibly damaging 0.84
R5860:Speer4b UTSW 5 27500228 missense possibly damaging 0.60
R6990:Speer4b UTSW 5 27497078 nonsense probably null
R7045:Speer4b UTSW 5 27500125 missense probably damaging 1.00
R7146:Speer4b UTSW 5 27498710 missense probably benign 0.00
R7170:Speer4b UTSW 5 27498823 missense possibly damaging 0.70
Z1088:Speer4b UTSW 5 27497941 missense probably benign 0.02
Posted On2012-12-06