Incidental Mutation 'R5452:Speer4f2'
ID 432564
Institutional Source Beutler Lab
Gene Symbol Speer4f2
Ensembl Gene ENSMUSG00000091827
Gene Name spermatogenesis associated glutamate (E)-rich protein 4f2
Synonyms Gm3535, Gm3495
MMRRC Submission 042848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R5452 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 17578184-17582990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17581498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 147 (R147W)
Ref Sequence ENSEMBL: ENSMUSP00000129818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166086]
AlphaFold E9Q366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165985
Predicted Effect possibly damaging
Transcript: ENSMUST00000166086
AA Change: R147W

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: R147W

DomainStartEndE-ValueType
Pfam:Takusan 34 112 9.6e-20 PFAM
low complexity region 208 253 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A T 8: 41,248,801 (GRCm39) I304F probably damaging Het
Adamts5 A G 16: 85,666,800 (GRCm39) probably benign Het
Akr1c6 A G 13: 4,504,544 (GRCm39) R132G probably benign Het
Ash1l T A 3: 88,892,183 (GRCm39) M1354K possibly damaging Het
C6 T C 15: 4,844,311 (GRCm39) I911T possibly damaging Het
Calm2 T C 17: 87,743,150 (GRCm39) probably null Het
Ccdc80 G A 16: 44,938,528 (GRCm39) R745Q probably damaging Het
Celsr3 T C 9: 108,721,233 (GRCm39) I2685T possibly damaging Het
Chkb T C 15: 89,313,788 (GRCm39) probably benign Het
Dennd5b T A 6: 148,943,011 (GRCm39) probably null Het
Dnah2 T C 11: 69,415,209 (GRCm39) Y175C probably damaging Het
Dnajc13 A G 9: 104,069,313 (GRCm39) S1154P probably benign Het
Ephb4 T C 5: 137,359,404 (GRCm39) S325P probably damaging Het
Fzd9 C T 5: 135,279,714 (GRCm39) R57H probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm9949 A G 18: 62,313,587 (GRCm39) probably benign Het
Gnb4 A T 3: 32,643,994 (GRCm39) M188K probably benign Het
Hr G T 14: 70,794,067 (GRCm39) G109V probably damaging Het
Lrp1b A G 2: 40,812,328 (GRCm39) S2426P probably damaging Het
Map2k4 A G 11: 65,610,413 (GRCm39) W88R probably damaging Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Moxd2 C T 6: 40,859,048 (GRCm39) probably null Het
Mrgprx1 T C 7: 47,671,556 (GRCm39) I64V probably benign Het
Mtrex T C 13: 113,049,715 (GRCm39) S232G probably null Het
Or5p68 A C 7: 107,945,312 (GRCm39) I292S probably damaging Het
Padi2 T C 4: 140,659,382 (GRCm39) F229S probably benign Het
Pappa2 T C 1: 158,666,172 (GRCm39) N1136S probably benign Het
Pcdhb1 A T 18: 37,398,811 (GRCm39) N254I possibly damaging Het
Plcb2 A G 2: 118,548,727 (GRCm39) Y400H probably damaging Het
Plce1 A C 19: 38,608,926 (GRCm39) T412P probably benign Het
Prg4 T C 1: 150,331,519 (GRCm39) probably benign Het
Prkdc A G 16: 15,586,501 (GRCm39) N2510S possibly damaging Het
Psme4 T A 11: 30,741,168 (GRCm39) S107T probably benign Het
Resf1 C A 6: 149,230,611 (GRCm39) S1219* probably null Het
Rint1 G T 5: 23,999,363 (GRCm39) A51S probably benign Het
Rsad1 T A 11: 94,434,515 (GRCm39) R306S probably damaging Het
Sema3c T G 5: 17,922,068 (GRCm39) probably null Het
Sirt3 G A 7: 140,444,928 (GRCm39) T290I probably damaging Het
Spam1 G A 6: 24,800,731 (GRCm39) G490D probably benign Het
Sppl2c A T 11: 104,078,126 (GRCm39) I309L probably benign Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
St3gal4 C T 9: 34,964,752 (GRCm39) R152H probably damaging Het
Sv2c A T 13: 96,114,591 (GRCm39) F532I probably damaging Het
Tacc1 C A 8: 25,654,431 (GRCm39) K705N probably null Het
Tekt3 G T 11: 62,985,619 (GRCm39) S475I probably damaging Het
Tjap1 T C 17: 46,571,101 (GRCm39) T139A probably damaging Het
Tnfrsf8 T A 4: 145,019,214 (GRCm39) K207M possibly damaging Het
Tnn T C 1: 159,937,831 (GRCm39) T965A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt2a A G 16: 18,068,814 (GRCm39) H270R probably damaging Het
Ttc21a T C 9: 119,780,037 (GRCm39) L448P probably benign Het
Ttll4 C A 1: 74,718,480 (GRCm39) N110K probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Tut7 A G 13: 59,948,471 (GRCm39) Y215H probably damaging Het
Ubr1 A G 2: 120,698,783 (GRCm39) Y1595H possibly damaging Het
Unc45a G A 7: 79,978,787 (GRCm39) P621S probably damaging Het
Xrn2 A T 2: 146,866,633 (GRCm39) probably null Het
Other mutations in Speer4f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Speer4f2 APN 5 17,581,565 (GRCm39) missense possibly damaging 0.94
IGL02092:Speer4f2 APN 5 17,581,627 (GRCm39) nonsense probably null
IGL03100:Speer4f2 APN 5 17,581,528 (GRCm39) missense probably damaging 0.99
R0939:Speer4f2 UTSW 5 17,579,402 (GRCm39) missense probably damaging 0.99
R1384:Speer4f2 UTSW 5 17,579,447 (GRCm39) missense probably damaging 1.00
R1528:Speer4f2 UTSW 5 17,581,540 (GRCm39) missense
R1873:Speer4f2 UTSW 5 17,579,447 (GRCm39) missense probably damaging 1.00
R3608:Speer4f2 UTSW 5 17,579,492 (GRCm39) missense probably benign 0.03
R4972:Speer4f2 UTSW 5 17,579,423 (GRCm39) missense probably benign 0.27
R5421:Speer4f2 UTSW 5 17,579,356 (GRCm39) missense possibly damaging 0.88
R5450:Speer4f2 UTSW 5 17,578,217 (GRCm39) missense possibly damaging 0.85
R5531:Speer4f2 UTSW 5 17,581,526 (GRCm39) missense possibly damaging 0.57
R5924:Speer4f2 UTSW 5 17,581,622 (GRCm39) missense probably damaging 1.00
R6454:Speer4f2 UTSW 5 17,579,431 (GRCm39) missense probably damaging 0.99
R6553:Speer4f2 UTSW 5 17,579,420 (GRCm39) missense probably damaging 1.00
R6585:Speer4f2 UTSW 5 17,579,420 (GRCm39) missense probably damaging 1.00
R6649:Speer4f2 UTSW 5 17,580,767 (GRCm39) missense probably benign 0.05
R6878:Speer4f2 UTSW 5 17,580,765 (GRCm39) missense probably damaging 0.99
R7089:Speer4f2 UTSW 5 17,581,661 (GRCm39) missense
R7129:Speer4f2 UTSW 5 17,582,446 (GRCm39) missense
R7448:Speer4f2 UTSW 5 17,581,540 (GRCm39) missense
R7654:Speer4f2 UTSW 5 17,579,413 (GRCm39) missense
R7942:Speer4f2 UTSW 5 17,582,630 (GRCm39) missense unknown
R8170:Speer4f2 UTSW 5 17,579,459 (GRCm39) missense
R8409:Speer4f2 UTSW 5 17,582,419 (GRCm39) missense
R9154:Speer4f2 UTSW 5 17,581,610 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CCTGAAATGGCTGGTTGCTG -3'
(R):5'- GATCTAATGTGCCAATGGTATCAG -3'

Sequencing Primer
(F):5'- CTGTTTGTACAGCTGCCATG -3'
(R):5'- GGTATCAGACAGTTATAGCCTGACC -3'
Posted On 2016-10-06