Incidental Mutation 'IGL01343:Speer4b'
ID278293
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: 0.101) question?
Stock #IGL01343
Quality Score
Status
Chromosome5
Chromosomal Location27495639-27501438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 27497883 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 208 (H208N)
Ref Sequence ENSEMBL: ENSMUSP00000062903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053257] [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]
Predicted Effect probably benign
Transcript: ENSMUST00000053257
AA Change: H208N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062903
Gene: ENSMUSG00000048703
AA Change: H208N

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: H206N
SMART Domains Protein: ENSMUSP00000122872
Gene: ENSMUSG00000048703
AA Change: H206N

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,150,702 Q1191R probably benign Het
Abcd2 A T 15: 91,149,213 probably benign Het
Adgrf1 T A 17: 43,313,195 F835L probably null Het
Akp3 G T 1: 87,127,136 probably benign Het
BC106179 G T 16: 23,224,287 probably benign Het
Bysl C A 17: 47,601,889 M325I probably benign Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Crnn A G 3: 93,148,326 R140G probably benign Het
Cts8 T C 13: 61,249,196 probably benign Het
Cxcr4 T C 1: 128,589,555 Y121C probably damaging Het
Ddr2 T C 1: 169,984,581 T691A probably benign Het
Dhx30 A T 9: 110,086,245 F782I probably benign Het
Efcab5 C T 11: 77,129,930 G655D probably damaging Het
Eif2ak4 G A 2: 118,422,089 V381I probably benign Het
Enpp3 A T 10: 24,805,922 Y295* probably null Het
Fbxo28 T C 1: 182,317,012 E329G probably damaging Het
Fmnl2 T A 2: 53,123,545 V972D probably damaging Het
Fmr1 A G X: 68,688,295 D22G probably damaging Het
Fsip2 A G 2: 82,999,819 T6886A possibly damaging Het
Gadl1 A G 9: 116,074,112 *503W probably null Het
Gpc6 A T 14: 117,186,812 K104I possibly damaging Het
Hecw2 T A 1: 53,826,976 T1509S probably damaging Het
Lonp1 A G 17: 56,615,586 L680P possibly damaging Het
Lrrc66 A T 5: 73,608,463 N412K probably damaging Het
Marco C T 1: 120,494,740 probably null Het
Mdga2 T C 12: 66,723,109 T206A probably damaging Het
Mogat2 C A 7: 99,232,568 A54S possibly damaging Het
Myh15 T A 16: 49,155,677 D1369E probably benign Het
Nckap1 A T 2: 80,519,842 S840T possibly damaging Het
Ncor1 C T 11: 62,325,486 probably null Het
Nfrkb C A 9: 31,388,954 L14I probably damaging Het
Notch1 C A 2: 26,472,905 A950S probably benign Het
Notch3 T C 17: 32,143,436 E1405G probably benign Het
Nsd2 C A 5: 33,843,578 D146E probably damaging Het
Oc90 T C 15: 65,889,591 T193A probably benign Het
Olfr1090 T A 2: 86,754,499 K80* probably null Het
Olfr1356 A T 10: 78,847,597 V106E probably damaging Het
Olfr150 C A 9: 39,737,715 A300D probably damaging Het
Orc2 A T 1: 58,492,855 probably null Het
Pacsin2 T C 15: 83,386,686 H254R probably damaging Het
Pif1 T A 9: 65,589,562 M319K probably damaging Het
Prag1 G A 8: 36,103,046 R261H possibly damaging Het
Ptprq G A 10: 107,638,839 T1335I probably damaging Het
Ryr3 A G 2: 112,660,054 Y3812H probably damaging Het
Sgo2b G A 8: 63,927,315 Q828* probably null Het
Skint6 A G 4: 113,283,626 V6A probably benign Het
Slc16a13 A G 11: 70,220,514 I55T probably damaging Het
Slc22a3 A T 17: 12,425,629 W490R probably damaging Het
Tas2r124 T C 6: 132,755,415 L229S probably damaging Het
Tlr4 T C 4: 66,833,887 probably benign Het
Tmed1 G T 9: 21,510,073 T35K probably damaging Het
Tubgcp5 C A 7: 55,796,031 probably benign Het
Ugt2b34 A G 5: 86,904,388 S250P possibly damaging Het
Zfp516 A G 18: 82,993,096 T1085A probably damaging Het
Znfx1 T C 2: 167,037,363 I1698V probably benign Het
Zswim8 G T 14: 20,713,341 W385C probably damaging Het
Other mutations in Speer4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00869:Speer4b APN 5 27498718 missense probably damaging 0.99
IGL00990:Speer4b APN 5 27501274 missense probably damaging 1.00
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 On2015-04-16