Incidental Mutation 'IGL03344:Speer4f1'
ID 417377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Speer4f1
Ensembl Gene ENSMUSG00000058643
Gene Name spermatogenesis associated glutamate (E)-rich protein 4F1
Synonyms 4922502J04Rik, Speer4f, SPEER-4F
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL03344
Quality Score
Status
Chromosome 5
Chromosomal Location 17681120-17685934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17685332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 209 (E209G)
Ref Sequence ENSEMBL: ENSMUSP00000075467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076099]
AlphaFold Q9D5Q6
Predicted Effect possibly damaging
Transcript: ENSMUST00000076099
AA Change: E209G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075467
Gene: ENSMUSG00000058643
AA Change: E209G

DomainStartEndE-ValueType
Pfam:Takusan 50 128 1.2e-19 PFAM
low complexity region 224 258 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,975,005 (GRCm39) I26N probably damaging Het
Atxn7l1 A G 12: 33,376,065 (GRCm39) N47D probably damaging Het
Cer1 A T 4: 82,803,062 (GRCm39) W87R probably damaging Het
Chrna2 A G 14: 66,388,415 (GRCm39) K477E probably damaging Het
Chtf8 G A 8: 107,612,904 (GRCm39) P12S probably damaging Het
Cplane1 C A 15: 8,216,942 (GRCm39) P720Q possibly damaging Het
Deaf1 A T 7: 140,877,461 (GRCm39) H555Q probably benign Het
Dop1a T G 9: 86,418,197 (GRCm39) I1975M probably damaging Het
Ecpas A C 4: 58,828,538 (GRCm39) V965G probably damaging Het
Fsd2 C A 7: 81,209,657 (GRCm39) V62L probably benign Het
Fxyd6 T G 9: 45,303,548 (GRCm39) L81R probably benign Het
Htt T A 5: 35,064,810 (GRCm39) S3008T probably benign Het
Htt T A 5: 35,037,172 (GRCm39) S2086T probably benign Het
Mybbp1a G T 11: 72,336,028 (GRCm39) R447L probably damaging Het
Nup210 A G 6: 90,998,411 (GRCm39) V792A possibly damaging Het
Odad2 C A 18: 7,129,434 (GRCm39) G915* probably null Het
Odr4 T C 1: 150,239,295 (GRCm39) E386G probably damaging Het
Or1e32 T A 11: 73,705,003 (GRCm39) I302L probably benign Het
Or1j14 T C 2: 36,418,140 (GRCm39) S239P probably damaging Het
Prokr1 T C 6: 87,565,482 (GRCm39) D121G possibly damaging Het
Puf60 A G 15: 75,942,229 (GRCm39) V548A possibly damaging Het
Serpina3c T C 12: 104,113,523 (GRCm39) I408V probably benign Het
Ska2 A G 11: 87,000,139 (GRCm39) probably benign Het
Slc4a9 T A 18: 36,668,654 (GRCm39) Y745N probably damaging Het
Spart T C 3: 55,029,106 (GRCm39) M299T probably benign Het
Tmem202 T C 9: 59,426,351 (GRCm39) T272A possibly damaging Het
Vegfc T A 8: 54,610,186 (GRCm39) I114N possibly damaging Het
Vmn1r61 T A 7: 5,613,493 (GRCm39) T274S possibly damaging Het
Zfpm2 A G 15: 40,966,170 (GRCm39) N753S probably benign Het
Zmym6 A G 4: 127,014,314 (GRCm39) T624A probably damaging Het
Other mutations in Speer4f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02837:Speer4f1 UTSW 5 17,685,381 (GRCm39) missense unknown
PIT4508001:Speer4f1 UTSW 5 17,685,412 (GRCm39) missense unknown
PIT4514001:Speer4f1 UTSW 5 17,683,754 (GRCm39) missense possibly damaging 0.94
R0165:Speer4f1 UTSW 5 17,684,512 (GRCm39) nonsense probably null
R1557:Speer4f1 UTSW 5 17,684,490 (GRCm39) missense probably damaging 1.00
R1740:Speer4f1 UTSW 5 17,683,759 (GRCm39) missense probably damaging 1.00
R2332:Speer4f1 UTSW 5 17,684,522 (GRCm39) missense probably damaging 0.99
R3890:Speer4f1 UTSW 5 17,684,500 (GRCm39) missense probably damaging 0.98
R4659:Speer4f1 UTSW 5 17,681,221 (GRCm39) missense possibly damaging 0.75
R4718:Speer4f1 UTSW 5 17,685,422 (GRCm39) missense unknown
R5322:Speer4f1 UTSW 5 17,682,347 (GRCm39) missense possibly damaging 0.47
R6075:Speer4f1 UTSW 5 17,684,482 (GRCm39) missense possibly damaging 0.95
R6134:Speer4f1 UTSW 5 17,681,140 (GRCm39) missense probably benign 0.10
R6192:Speer4f1 UTSW 5 17,684,493 (GRCm39) missense probably damaging 1.00
R6277:Speer4f1 UTSW 5 17,681,241 (GRCm39) missense probably damaging 0.99
R6803:Speer4f1 UTSW 5 17,684,388 (GRCm39) splice site probably null
R7820:Speer4f1 UTSW 5 17,684,528 (GRCm39) missense probably damaging 1.00
Z1088:Speer4f1 UTSW 5 17,684,477 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02