Incidental Mutation 'R4509:Speer3'
ID331114
Institutional Source Beutler Lab
Gene Symbol Speer3
Ensembl Gene ENSMUSG00000067855
Gene Namespermatogenesis associated glutamate (E)-rich protein 3
SynonymsSPEER-3, 4933405P08Rik
MMRRC Submission 041758-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R4509 (G1)
Quality Score132
Status Not validated
Chromosome5
Chromosomal Location13791619-13796820 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 13796354 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 229 (N229K)
Ref Sequence ENSEMBL: ENSMUSP00000115668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124677]
Predicted Effect possibly damaging
Transcript: ENSMUST00000124677
AA Change: N229K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115668
Gene: ENSMUSG00000067855
AA Change: N229K

DomainStartEndE-ValueType
Pfam:Takusan 48 134 2.3e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199961
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,966,755 L657P probably damaging Het
Adam4 A T 12: 81,421,747 C33* probably null Het
Adam6b T C 12: 113,490,352 V263A probably benign Het
Arid1a A C 4: 133,695,699 probably benign Het
Ascc3 T C 10: 50,842,243 F2011L probably benign Het
Atp5j T C 16: 84,827,974 D104G probably benign Het
Cacna1d T C 14: 30,096,971 Y1209C probably damaging Het
Camta2 G A 11: 70,681,018 T484M probably benign Het
Ccdc178 T C 18: 22,067,392 N452D possibly damaging Het
Col1a2 G A 6: 4,518,822 probably benign Het
Cttnbp2nl T C 3: 105,032,747 N2S probably damaging Het
Gm15032 A T X: 142,622,626 noncoding transcript Het
Gzmg G A 14: 56,156,753 P228L probably damaging Het
Hao1 T A 2: 134,523,044 D221V probably damaging Het
Ints9 A G 14: 65,028,932 D411G possibly damaging Het
Lnx1 C T 5: 74,620,192 D382N probably damaging Het
Mdn1 C T 4: 32,715,883 R2022C probably damaging Het
Mipep T C 14: 60,827,321 Y375H probably damaging Het
Muc6 G A 7: 141,638,400 S2120F possibly damaging Het
Pah T C 10: 87,576,215 probably null Het
Perm1 T C 4: 156,217,586 S196P probably benign Het
Pik3c2g A T 6: 139,720,006 T18S probably benign Het
Polq G A 16: 37,048,563 R765H probably damaging Het
Ppp3cb A T 14: 20,515,501 probably benign Het
Psd4 T C 2: 24,396,335 S316P probably benign Het
Ptpn18 T C 1: 34,462,742 V45A possibly damaging Het
Rasgrp3 A G 17: 75,500,673 M242V probably damaging Het
Repin1 T C 6: 48,596,526 C130R possibly damaging Het
Rrp1 G T 10: 78,412,822 T44K possibly damaging Het
Slc44a5 A G 3: 154,234,073 Y88C probably damaging Het
Socs1 C T 16: 10,784,354 R173Q probably benign Het
Sult2a7 T A 7: 14,470,161 I226F probably damaging Het
Tdp1 G A 12: 99,955,065 probably benign Het
Tnfrsf21 G A 17: 43,085,388 S521N probably benign Het
Tnip1 T A 11: 54,926,790 S244C probably benign Het
Ubqln3 G A 7: 104,141,444 L480F probably damaging Het
Vps13d G A 4: 145,062,602 P3817L probably damaging Het
Xpr1 A G 1: 155,290,161 probably benign Het
Zfhx3 A G 8: 108,793,779 E511G probably benign Het
Zfp560 C T 9: 20,348,723 C281Y probably damaging Het
Other mutations in Speer3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Speer3 APN 5 13793222 nonsense probably null
IGL02730:Speer3 APN 5 13793271 missense probably benign
IGL03192:Speer3 APN 5 13791688 missense possibly damaging 0.93
IGL03301:Speer3 APN 5 13795433 missense probably damaging 1.00
R1623:Speer3 UTSW 5 13796321 missense probably benign
R3028:Speer3 UTSW 5 13795431 missense probably damaging 0.99
R4091:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4092:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4368:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4369:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4405:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4450:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4594:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R4702:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R5096:Speer3 UTSW 5 13796380 missense possibly damaging 0.70
R5508:Speer3 UTSW 5 13794664 missense probably damaging 0.97
R5583:Speer3 UTSW 5 13794768 critical splice donor site probably null
R6061:Speer3 UTSW 5 13794691 missense possibly damaging 0.88
R6337:Speer3 UTSW 5 13793355 missense probably damaging 0.96
R6518:Speer3 UTSW 5 13795448 missense possibly damaging 0.66
R7503:Speer3 UTSW 5 13793334 missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- GTTTGACATTTTGCCCTGCATG -3'
(R):5'- ACCTCAGTCCTCACTCAAGG -3'

Sequencing Primer
(F):5'- TTGCCCTGCATGTATAGAACAGC -3'
(R):5'- CAGTCCTCACTCAAGGGGTGTTG -3'
Posted On2015-07-21