Incidental Mutation 'R3890:Speer4f1'
ID310328
Institutional Source Beutler Lab
Gene Symbol Speer4f1
Ensembl Gene ENSMUSG00000058643
Gene Namespermatogenesis associated glutamate (E)-rich protein 4F1
Synonyms4922502J04Rik, Speer4f, SPEER-4F
MMRRC Submission 040802-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #R3890 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location17476098-17480936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17479502 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 176 (I176T)
Ref Sequence ENSEMBL: ENSMUSP00000075467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076099]
Predicted Effect probably damaging
Transcript: ENSMUST00000076099
AA Change: I176T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075467
Gene: ENSMUSG00000058643
AA Change: I176T

DomainStartEndE-ValueType
Pfam:Takusan 50 128 1.2e-19 PFAM
low complexity region 224 258 N/A INTRINSIC
Meta Mutation Damage Score 0.0328 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,554,700 Y201C probably damaging Het
Adam10 A G 9: 70,768,854 T624A probably benign Het
Atf2 T C 2: 73,863,213 S2G probably damaging Het
Atf7ip T C 6: 136,587,045 V762A possibly damaging Het
Cacna1e C T 1: 154,483,553 R265Q probably damaging Het
Cckbr A C 7: 105,426,169 T49P probably benign Het
Clip2 T C 5: 134,522,993 K92E probably damaging Het
Clrn3 T C 7: 135,518,465 T131A possibly damaging Het
Cntrl T G 2: 35,170,480 C1342G probably benign Het
Def8 T C 8: 123,458,344 probably benign Het
Dennd4a T C 9: 64,872,028 S598P probably damaging Het
Deup1 A G 9: 15,599,713 Y257H probably damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Ect2 T C 3: 27,138,540 D387G probably damaging Het
Fam208b T C 13: 3,596,785 E80G probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Fmo4 A T 1: 162,794,055 I529N probably benign Het
Frs3 A G 17: 47,703,435 D351G probably damaging Het
Gcat T A 15: 79,037,176 V378D probably damaging Het
Hmcn1 A T 1: 150,635,195 D3592E probably damaging Het
Hspa4l A T 3: 40,781,594 Q570L possibly damaging Het
Ifi213 A G 1: 173,567,256 I571T probably benign Het
Lsamp T C 16: 39,984,692 V11A probably benign Het
Mettl1 T C 10: 127,045,129 probably null Het
Mettl15 A G 2: 109,191,579 I127T probably benign Het
Mipep T C 14: 60,808,995 L322P probably damaging Het
Mob1b T A 5: 88,753,202 I156K probably damaging Het
Mobp G A 9: 120,167,956 C51Y probably damaging Het
Ms4a3 T C 19: 11,632,907 N97S probably benign Het
Myrip A G 9: 120,422,258 E210G probably damaging Het
Nos1ap T C 1: 170,349,456 Y126C probably damaging Het
Nuak2 G T 1: 132,331,485 A342S possibly damaging Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr170 A G 16: 19,606,455 I71T probably damaging Het
Olfr58 T G 9: 19,783,715 I194S probably benign Het
Olfr718-ps1 G T 5: 143,137,397 S290R probably benign Het
Pdgfra A G 5: 75,167,927 N240S probably null Het
Pdxdc1 T C 16: 13,836,448 T759A probably benign Het
Pex2 C T 3: 5,560,948 C267Y probably damaging Het
Pgghg T C 7: 140,945,703 I473T probably damaging Het
Prdm15 T C 16: 97,799,571 H829R probably damaging Het
Pum1 T C 4: 130,764,082 L774P probably damaging Het
Rcbtb1 T A 14: 59,228,355 H382Q possibly damaging Het
Rprd2 A T 3: 95,765,224 F956I probably damaging Het
Samd1 G A 8: 83,997,732 probably benign Het
Slc4a11 A T 2: 130,685,785 S592T probably damaging Het
Slc5a4b A G 10: 76,062,260 V540A probably benign Het
Slfn8 G A 11: 83,004,444 T512I possibly damaging Het
Slx4 A T 16: 3,979,909 I1537N probably damaging Het
Sorl1 G A 9: 42,004,105 T1276M probably damaging Het
Specc1 C T 11: 62,151,913 T872M probably benign Het
Spint1 T C 2: 119,248,802 I455T probably benign Het
Srp54a A G 12: 55,089,193 probably null Het
Stoml3 T A 3: 53,507,454 N222K probably damaging Het
Syce1 C A 7: 140,779,896 L83F probably damaging Het
Tanc2 A T 11: 105,798,678 D222V probably damaging Het
Thsd7a G A 6: 12,418,337 S631L probably benign Het
Vmn2r73 G A 7: 85,857,936 H723Y probably benign Het
Wdfy4 T C 14: 33,047,280 E2076G probably damaging Het
Other mutations in Speer4f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03344:Speer4f1 APN 5 17480334 missense possibly damaging 0.88
IGL02837:Speer4f1 UTSW 5 17480383 missense unknown
PIT4508001:Speer4f1 UTSW 5 17480414 missense unknown
PIT4514001:Speer4f1 UTSW 5 17478756 missense possibly damaging 0.94
R0165:Speer4f1 UTSW 5 17479514 nonsense probably null
R1557:Speer4f1 UTSW 5 17479492 missense probably damaging 1.00
R1740:Speer4f1 UTSW 5 17478761 missense probably damaging 1.00
R2332:Speer4f1 UTSW 5 17479524 missense probably damaging 0.99
R4659:Speer4f1 UTSW 5 17476223 missense possibly damaging 0.75
R4718:Speer4f1 UTSW 5 17480424 missense unknown
R5322:Speer4f1 UTSW 5 17477349 missense possibly damaging 0.47
R6075:Speer4f1 UTSW 5 17479484 missense possibly damaging 0.95
R6134:Speer4f1 UTSW 5 17476142 missense probably benign 0.10
R6192:Speer4f1 UTSW 5 17479495 missense probably damaging 1.00
R6277:Speer4f1 UTSW 5 17476243 missense probably damaging 0.99
R6803:Speer4f1 UTSW 5 17479390 splice site probably null
Z1088:Speer4f1 UTSW 5 17479479 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGGGTACAGGTCAGGTTAATG -3'
(R):5'- CCAGAATGCTTGTGTGAAGACAG -3'

Sequencing Primer
(F):5'- AGGTTAATGGGACCTGTAAGTAG -3'
(R):5'- TGAACAGCTACATTCCATGAGG -3'
Posted On2015-04-17