Incidental Mutation 'R7069:Speer4a3'
ID 548738
Institutional Source Beutler Lab
Gene Symbol Speer4a3
Ensembl Gene ENSMUSG00000095550
Gene Name spermatogenesis associated glutamate (E)-rich protein 4A3
Synonyms Gm21671
MMRRC Submission 045165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7069 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 26154795-26159342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26154842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 253 (S253T)
Ref Sequence ENSEMBL: ENSMUSP00000133924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162387]
AlphaFold G3UY31
Predicted Effect possibly damaging
Transcript: ENSMUST00000162387
AA Change: S253T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133924
Gene: ENSMUSG00000095550
AA Change: S253T

DomainStartEndE-ValueType
Pfam:Takusan 50 134 2.4e-25 PFAM
low complexity region 154 168 N/A INTRINSIC
low complexity region 235 259 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (86/88)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,024,203 (GRCm39) I991L probably benign Het
Abtb3 C A 10: 85,223,520 (GRCm39) R110S unknown Het
Actg2 C A 6: 83,497,745 (GRCm39) G96V probably damaging Het
Adh5 T A 3: 138,156,812 (GRCm39) L166* probably null Het
Akap13 A G 7: 75,260,010 (GRCm39) D75G probably benign Het
Ank2 T C 3: 126,739,947 (GRCm39) probably benign Het
Arfgap1 T A 2: 180,615,913 (GRCm39) D197E probably benign Het
Aste1 T C 9: 105,273,906 (GRCm39) probably null Het
Atp8b2 T A 3: 89,861,878 (GRCm39) N78I probably damaging Het
Cacna2d3 T A 14: 28,691,260 (GRCm39) probably benign Het
Chrd T A 16: 20,558,183 (GRCm39) W809R probably damaging Het
Col2a1 C T 15: 97,896,469 (GRCm39) G60D unknown Het
Coro7 T A 16: 4,497,475 (GRCm39) M1L probably damaging Het
Cracdl A T 1: 37,670,982 (GRCm39) F97Y probably damaging Het
Dhx40 T C 11: 86,688,569 (GRCm39) I285V probably benign Het
Dop1a T C 9: 86,432,222 (GRCm39) probably null Het
Enox1 A T 14: 77,848,764 (GRCm39) R358S probably damaging Het
Ep400 A G 5: 110,815,990 (GRCm39) V2724A probably damaging Het
Fam221a A C 6: 49,355,432 (GRCm39) Q178P probably damaging Het
Fcho1 A C 8: 72,163,141 (GRCm39) probably null Het
Fndc1 A T 17: 7,988,567 (GRCm39) V1165D unknown Het
Gal3st2b A T 1: 93,868,341 (GRCm39) N189Y possibly damaging Het
Ghr T A 15: 3,349,966 (GRCm39) D404V probably damaging Het
Glis3 A T 19: 28,508,919 (GRCm39) V355D probably damaging Het
Gpr12 A C 5: 146,520,349 (GRCm39) V32G possibly damaging Het
Gspt1 T A 16: 11,040,525 (GRCm39) L593F probably damaging Het
H2-Q7 A T 17: 35,659,007 (GRCm39) T153S probably damaging Het
Hars2 A G 18: 36,921,009 (GRCm39) I194V probably damaging Het
Hdac9 T A 12: 34,479,548 (GRCm39) T202S possibly damaging Het
Hoxd13 T C 2: 74,499,368 (GRCm39) Y239H probably damaging Het
Insm2 C T 12: 55,646,621 (GRCm39) Q122* probably null Het
Insyn2b T A 11: 34,352,677 (GRCm39) C240S possibly damaging Het
Ip6k1 T A 9: 107,922,651 (GRCm39) probably null Het
Ippk T C 13: 49,615,219 (GRCm39) V534A probably damaging Het
Itch T G 2: 155,051,914 (GRCm39) F611C probably damaging Het
Itga1 A T 13: 115,104,776 (GRCm39) N1083K probably damaging Het
Itgae A C 11: 73,006,969 (GRCm39) D405A probably damaging Het
Kif18a T C 2: 109,125,347 (GRCm39) S255P probably damaging Het
Klhl24 C G 16: 19,926,231 (GRCm39) T253R probably benign Het
Krt81 T A 15: 101,358,609 (GRCm39) T307S possibly damaging Het
Lbr A T 1: 181,656,354 (GRCm39) W265R probably damaging Het
Lgals3bp T C 11: 118,283,999 (GRCm39) T527A probably benign Het
Lzts1 A C 8: 69,593,397 (GRCm39) V70G probably damaging Het
Map3k6 C T 4: 132,979,023 (GRCm39) P1154S probably benign Het
Masp1 T C 16: 23,271,205 (GRCm39) D681G probably benign Het
Mdga2 T C 12: 66,533,526 (GRCm39) N948D probably benign Het
Mettl4 A T 17: 95,041,061 (GRCm39) F364L probably damaging Het
Mosmo T C 7: 120,277,055 (GRCm39) I23T probably benign Het
Mtg1 G A 7: 139,723,657 (GRCm39) V96I probably benign Het
Myh11 T A 16: 14,036,803 (GRCm39) R966S possibly damaging Het
Ncapg2 A G 12: 116,388,337 (GRCm39) probably null Het
Nid1 G A 13: 13,683,353 (GRCm39) V1144I probably benign Het
Or4a77 T C 2: 89,486,910 (GRCm39) I292V probably benign Het
Or52a33 A T 7: 103,289,167 (GRCm39) M60K probably damaging Het
Or55b4 C A 7: 102,133,979 (GRCm39) C116F possibly damaging Het
Oscar T G 7: 3,614,238 (GRCm39) Y167S probably damaging Het
Pa2g4 T C 10: 128,396,559 (GRCm39) T200A probably benign Het
Pcdh7 A G 5: 57,877,126 (GRCm39) D227G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plce1 G A 19: 38,747,384 (GRCm39) G1702R probably damaging Het
Plxna2 C A 1: 194,476,212 (GRCm39) T1144K possibly damaging Het
Prl8a8 G A 13: 27,695,450 (GRCm39) T99I probably benign Het
Prr29 C A 11: 106,267,085 (GRCm39) H83Q probably damaging Het
Raly T A 2: 154,701,664 (GRCm39) I108N possibly damaging Het
Ranbp9 A T 13: 43,573,098 (GRCm39) S475R probably benign Het
Rogdi C A 16: 4,831,362 (GRCm39) probably benign Het
Rorc C T 3: 94,280,214 (GRCm39) Q6* probably null Het
Sacs T C 14: 61,449,945 (GRCm39) L3997S probably damaging Het
Scn2a A T 2: 65,594,950 (GRCm39) Y1933F probably benign Het
Sik3 T C 9: 46,122,041 (GRCm39) L898P probably damaging Het
Sipa1l1 A G 12: 82,388,180 (GRCm39) I135M probably damaging Het
Slc26a3 C A 12: 31,500,934 (GRCm39) Q224K probably damaging Het
Sobp G T 10: 42,897,436 (GRCm39) N716K probably benign Het
Spata16 A G 3: 26,981,483 (GRCm39) D513G probably damaging Het
Spata31h1 G A 10: 82,125,777 (GRCm39) T2411I probably damaging Het
Stac T C 9: 111,401,394 (GRCm39) R351G possibly damaging Het
Tecta T A 9: 42,306,237 (GRCm39) T64S probably benign Het
Tert G A 13: 73,776,529 (GRCm39) V427M probably damaging Het
Tex15 G A 8: 34,060,748 (GRCm39) M333I probably benign Het
Tmbim4 A T 10: 120,056,664 (GRCm39) Q72L probably benign Het
Trav9n-4 T C 14: 53,532,256 (GRCm39) S37P probably benign Het
Trpv5 A T 6: 41,652,894 (GRCm39) M93K possibly damaging Het
Ulk4 T C 9: 121,087,876 (GRCm39) E272G probably benign Het
Ulk4 T C 9: 121,095,583 (GRCm39) T79A probably benign Het
Upb1 A G 10: 75,248,602 (GRCm39) N41D probably benign Het
Wls A T 3: 159,639,965 (GRCm39) Y532F probably damaging Het
Zdhhc5 G A 2: 84,545,355 (GRCm39) probably benign Het
Zfp109 T C 7: 23,928,785 (GRCm39) D216G probably benign Het
Zfp473 G A 7: 44,381,798 (GRCm39) A845V probably damaging Het
Other mutations in Speer4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Speer4a3 APN 5 26,159,222 (GRCm39) missense probably benign
IGL01018:Speer4a3 APN 5 26,155,721 (GRCm39) missense probably benign
IGL02487:Speer4a3 APN 5 26,156,605 (GRCm39) missense probably benign 0.00
IGL02612:Speer4a3 APN 5 26,156,614 (GRCm39) missense probably benign 0.32
IGL02654:Speer4a3 APN 5 26,158,205 (GRCm39) missense probably benign 0.00
R1344:Speer4a3 UTSW 5 26,158,107 (GRCm39) missense probably benign 0.07
R1462:Speer4a3 UTSW 5 26,156,623 (GRCm39) missense possibly damaging 0.94
R1462:Speer4a3 UTSW 5 26,156,623 (GRCm39) missense possibly damaging 0.94
R2213:Speer4a3 UTSW 5 26,158,175 (GRCm39) missense probably benign
R6856:Speer4a3 UTSW 5 26,155,843 (GRCm39) missense probably benign
R7165:Speer4a3 UTSW 5 26,155,849 (GRCm39) small deletion probably benign
R7737:Speer4a3 UTSW 5 26,155,849 (GRCm39) small deletion probably benign
R8393:Speer4a3 UTSW 5 26,158,076 (GRCm39) missense probably damaging 1.00
R8729:Speer4a3 UTSW 5 26,158,178 (GRCm39) missense probably damaging 0.99
R8815:Speer4a3 UTSW 5 26,158,191 (GRCm39) missense probably damaging 1.00
R8901:Speer4a3 UTSW 5 26,155,857 (GRCm39) small deletion probably benign
R8922:Speer4a3 UTSW 5 26,156,594 (GRCm39) missense possibly damaging 0.89
R9125:Speer4a3 UTSW 5 26,156,596 (GRCm39) missense possibly damaging 0.78
R9156:Speer4a3 UTSW 5 26,155,857 (GRCm39) small deletion probably benign
R9451:Speer4a3 UTSW 5 26,156,569 (GRCm39) nonsense probably null
R9474:Speer4a3 UTSW 5 26,158,136 (GRCm39) missense probably damaging 1.00
R9498:Speer4a3 UTSW 5 26,155,849 (GRCm39) small deletion probably benign
R9685:Speer4a3 UTSW 5 26,155,849 (GRCm39) small deletion probably benign
R9717:Speer4a3 UTSW 5 26,154,829 (GRCm39) missense probably damaging 0.99
R9766:Speer4a3 UTSW 5 26,155,849 (GRCm39) small deletion probably benign
RF039:Speer4a3 UTSW 5 26,155,857 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TGCACTTTTGGCAGCACAG -3'
(R):5'- CTGTCAAGTAAAGTTGAGGTAGTG -3'

Sequencing Primer
(F):5'- GCAGCACAGCCCTCCAG -3'
(R):5'- ACTGCAGTCTGAGAGCTTCCATG -3'
Posted On 2019-05-13