Incidental Mutation 'R7129:Speer4f2'
ID 552508
Institutional Source Beutler Lab
Gene Symbol Speer4f2
Ensembl Gene ENSMUSG00000091827
Gene Name spermatogenesis associated glutamate (E)-rich protein 4f2
Synonyms Gm3535, Gm3495
MMRRC Submission 045214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7129 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 17373180-17378028 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17377448 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 223 (D223G)
Ref Sequence ENSEMBL: ENSMUSP00000129818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166086]
AlphaFold E9Q366
Predicted Effect
SMART Domains Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: D223G

DomainStartEndE-ValueType
Pfam:Takusan 34 112 9.6e-20 PFAM
low complexity region 208 253 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 72,455,355 (GRCm38) E443G probably damaging Het
2700049A03Rik A G 12: 71,216,230 (GRCm38) probably null Het
3110082I17Rik A G 5: 139,363,983 (GRCm38) Y104H probably damaging Het
Abcg4 T C 9: 44,279,384 (GRCm38) K282E probably benign Het
Adamts17 T C 7: 67,121,010 (GRCm38) S956P probably damaging Het
Adh1 T C 3: 138,280,474 (GRCm38) V74A probably damaging Het
Akt1 A T 12: 112,659,649 (GRCm38) M63K probably benign Het
Arfrp1 G A 2: 181,359,551 (GRCm38) R177* probably null Het
Arl11 A G 14: 61,310,897 (GRCm38) E52G possibly damaging Het
BC051019 T C 7: 109,720,618 (GRCm38) S10G Het
Bfsp2 T A 9: 103,479,919 (GRCm38) E103V probably damaging Het
Bms1 G T 6: 118,403,161 (GRCm38) C728* probably null Het
Cachd1 T G 4: 100,918,066 (GRCm38) N159K probably null Het
Cd38 A G 5: 43,910,309 (GRCm38) N294S probably benign Het
Cfap54 T C 10: 93,016,571 (GRCm38) N891S probably benign Het
Chsy3 A T 18: 59,410,298 (GRCm38) H836L probably damaging Het
Cldn16 A T 16: 26,482,638 (GRCm38) D232V probably damaging Het
Dhx33 A T 11: 70,993,863 (GRCm38) I425N probably damaging Het
Dock4 A G 12: 40,828,879 (GRCm38) N1506D probably damaging Het
Dok7 T C 5: 35,079,048 (GRCm38) S227P probably damaging Het
Elf2 T C 3: 51,261,011 (GRCm38) R201G probably damaging Het
Etaa1 T C 11: 17,940,339 (GRCm38) R841G possibly damaging Het
Exoc4 T C 6: 33,971,999 (GRCm38) Y926H probably damaging Het
Fras1 A G 5: 96,781,284 (GRCm38) H3849R probably benign Het
Hapln3 C T 7: 79,121,824 (GRCm38) G106R probably damaging Het
Hmcn1 A C 1: 150,577,210 (GRCm38) probably null Het
Ifitm7 A T 16: 13,983,736 (GRCm38) I53N possibly damaging Het
Ikbkap T C 4: 56,787,944 (GRCm38) H329R probably damaging Het
Il6ra T C 3: 89,871,247 (GRCm38) N433D probably damaging Het
Iqch C T 9: 63,421,909 (GRCm38) V1048I probably benign Het
Kif20a A G 18: 34,632,535 (GRCm38) T862A probably benign Het
Mcrs1 G A 15: 99,248,728 (GRCm38) L141F probably damaging Het
Nkx3-2 A G 5: 41,761,674 (GRCm38) S324P probably damaging Het
Nmi A T 2: 51,955,924 (GRCm38) probably null Het
Nufip1 A G 14: 76,134,885 (GRCm38) K480E possibly damaging Het
Oit3 T A 10: 59,428,344 (GRCm38) I323F probably damaging Het
Olfr1450 A T 19: 12,954,114 (GRCm38) H175L possibly damaging Het
Olfr699 T C 7: 106,790,483 (GRCm38) K173E probably benign Het
Pcdha11 A G 18: 37,007,238 (GRCm38) E640G probably benign Het
Phip C T 9: 82,877,300 (GRCm38) V1366I probably damaging Het
Plin5 T C 17: 56,115,174 (GRCm38) M162V probably null Het
Podxl2 A G 6: 88,843,505 (GRCm38) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,283,677 (GRCm38) probably benign Het
Rab4a A T 8: 123,827,330 (GRCm38) D40V probably benign Het
Scn7a A G 2: 66,700,193 (GRCm38) F603L probably benign Het
Slfn5 A T 11: 82,961,150 (GRCm38) K701* probably null Het
Stip1 C T 19: 7,021,810 (GRCm38) G467S possibly damaging Het
Tas2r117 A T 6: 132,803,387 (GRCm38) T163S probably benign Het
Tecta T C 9: 42,347,991 (GRCm38) D1532G probably damaging Het
Tmem63a T C 1: 180,954,876 (GRCm38) I146T probably damaging Het
Ttn C A 2: 76,816,171 (GRCm38) G12844W probably damaging Het
Usp22 T C 11: 61,162,949 (GRCm38) I190V probably damaging Het
Usp24 T C 4: 106,362,215 (GRCm38) I536T probably damaging Het
Vmn1r23 A G 6: 57,926,076 (GRCm38) V239A possibly damaging Het
Vmn1r9 A C 6: 57,071,626 (GRCm38) T229P probably damaging Het
Zbtb21 AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC 16: 97,951,687 (GRCm38) probably benign Het
Zbtb8a G C 4: 129,360,395 (GRCm38) A102G probably damaging Het
Zfp51 T C 17: 21,461,709 (GRCm38) W57R probably damaging Het
Other mutations in Speer4f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Speer4f2 APN 5 17,376,567 (GRCm38) missense possibly damaging 0.94
IGL02092:Speer4f2 APN 5 17,376,629 (GRCm38) nonsense probably null
IGL03100:Speer4f2 APN 5 17,376,530 (GRCm38) missense probably damaging 0.99
R0939:Speer4f2 UTSW 5 17,374,404 (GRCm38) missense probably damaging 0.99
R1384:Speer4f2 UTSW 5 17,374,449 (GRCm38) missense probably damaging 1.00
R1528:Speer4f2 UTSW 5 17,376,542 (GRCm38) missense
R1873:Speer4f2 UTSW 5 17,374,449 (GRCm38) missense probably damaging 1.00
R3608:Speer4f2 UTSW 5 17,374,494 (GRCm38) missense probably benign 0.03
R4972:Speer4f2 UTSW 5 17,374,425 (GRCm38) missense probably benign 0.27
R5421:Speer4f2 UTSW 5 17,374,358 (GRCm38) missense possibly damaging 0.88
R5450:Speer4f2 UTSW 5 17,373,219 (GRCm38) missense possibly damaging 0.85
R5452:Speer4f2 UTSW 5 17,376,500 (GRCm38) missense possibly damaging 0.93
R5531:Speer4f2 UTSW 5 17,376,528 (GRCm38) missense possibly damaging 0.57
R5924:Speer4f2 UTSW 5 17,376,624 (GRCm38) missense probably damaging 1.00
R6454:Speer4f2 UTSW 5 17,374,433 (GRCm38) missense probably damaging 0.99
R6553:Speer4f2 UTSW 5 17,374,422 (GRCm38) missense probably damaging 1.00
R6585:Speer4f2 UTSW 5 17,374,422 (GRCm38) missense probably damaging 1.00
R6649:Speer4f2 UTSW 5 17,375,769 (GRCm38) missense probably benign 0.05
R6878:Speer4f2 UTSW 5 17,375,767 (GRCm38) missense probably damaging 0.99
R7089:Speer4f2 UTSW 5 17,376,663 (GRCm38) missense
R7448:Speer4f2 UTSW 5 17,376,542 (GRCm38) missense
R7654:Speer4f2 UTSW 5 17,374,415 (GRCm38) missense
R7942:Speer4f2 UTSW 5 17,377,632 (GRCm38) missense unknown
R8170:Speer4f2 UTSW 5 17,374,461 (GRCm38) missense
R8409:Speer4f2 UTSW 5 17,377,421 (GRCm38) missense
R9154:Speer4f2 UTSW 5 17,376,612 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- GCCTGTCTGCAGATTTAACACC -3'
(R):5'- AGATTCATCTGAGAAAGATTGTGGG -3'

Sequencing Primer
(F):5'- CAGCTACCATGACTTTCC -3'
(R):5'- CATCTGAGAAAGATTGTGGGTGCTG -3'
Posted On 2019-05-15