Incidental Mutation 'R1586:Speer4b'
ID 177501
Institutional Source Beutler Lab
Gene Symbol Speer4b
Ensembl Gene ENSMUSG00000048703
Gene Name spermatogenesis associated glutamate (E)-rich protein 4B
Synonyms 1700081O22Rik, SPEER-4B
MMRRC Submission 039623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1586 (G1)
Quality Score 87
Status Validated
Chromosome 5
Chromosomal Location 27700807-27706390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27702011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 250 (S250P)
Ref Sequence ENSEMBL: ENSMUSP00000062903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053257] [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]
AlphaFold Q9D9F7
Predicted Effect probably damaging
Transcript: ENSMUST00000053257
AA Change: S250P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062903
Gene: ENSMUSG00000048703
AA Change: S250P

DomainStartEndE-ValueType
Pfam:Takusan 50 134 9.6e-27 PFAM
low complexity region 154 168 N/A INTRINSIC
low complexity region 235 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071500
SMART Domains Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
Pfam:DPPIV_N 134 500 7.2e-114 PFAM
Pfam:PD40 365 402 1.1e-5 PFAM
Pfam:Peptidase_S9 579 789 2.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101471
SMART Domains Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
Pfam:DPPIV_N 133 499 2.6e-114 PFAM
Pfam:PD40 364 401 9.3e-6 PFAM
Pfam:Peptidase_S9 578 788 1.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120555
SMART Domains Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Pfam:DPPIV_N 131 497 2.6e-114 PFAM
Pfam:PD40 362 399 9.2e-6 PFAM
Pfam:Peptidase_S9 576 786 1.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122171
SMART Domains Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
transmembrane domain 90 112 N/A INTRINSIC
Pfam:DPPIV_N 189 555 6.4e-113 PFAM
Pfam:PD40 425 457 1.1e-4 PFAM
Pfam:Peptidase_S9 634 844 4.3e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124535
Predicted Effect probably benign
Transcript: ENSMUST00000155721
SMART Domains Protein: ENSMUSP00000122872
Gene: ENSMUSG00000048703

DomainStartEndE-ValueType
Pfam:Takusan 49 133 6.2e-27 PFAM
low complexity region 153 167 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 93% (65/70)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,337,228 (GRCm39) A2361V probably damaging Het
Alpi A G 1: 87,027,923 (GRCm39) I219T probably damaging Het
Anapc10 T A 8: 80,501,772 (GRCm39) M180K probably benign Het
Ank3 A G 10: 69,713,708 (GRCm39) I431V probably damaging Het
Anxa8 T A 14: 33,815,894 (GRCm39) D182E probably damaging Het
Atp1a3 T A 7: 24,678,808 (GRCm39) I945F probably damaging Het
Atp2a3 T C 11: 72,882,570 (GRCm39) S1019P probably damaging Het
Cbs T A 17: 31,841,448 (GRCm39) I258F probably damaging Het
Cic T C 7: 24,985,386 (GRCm39) S277P probably damaging Het
Cidea T A 18: 67,493,230 (GRCm39) V83E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca3a2 A G 3: 144,516,477 (GRCm39) I373T possibly damaging Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Cryz A G 3: 154,317,147 (GRCm39) N122S probably benign Het
Dmap1 T C 4: 117,533,319 (GRCm39) E245G probably damaging Het
Epha2 C T 4: 141,045,916 (GRCm39) probably benign Het
Fam222b C T 11: 78,045,347 (GRCm39) L303F probably damaging Het
Fastkd1 T C 2: 69,542,492 (GRCm39) D105G probably benign Het
Fat4 T A 3: 38,943,009 (GRCm39) L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fig4 A G 10: 41,141,423 (GRCm39) F279L probably damaging Het
Guk1 A G 11: 59,077,675 (GRCm39) S22P probably damaging Het
Kmt2d A G 15: 98,762,934 (GRCm39) probably benign Het
Macf1 A T 4: 123,403,639 (GRCm39) S727T probably benign Het
Mki67 T A 7: 135,315,701 (GRCm39) K54* probably null Het
Ms4a8a T C 19: 11,053,696 (GRCm39) T137A possibly damaging Het
Myo5c T C 9: 75,174,313 (GRCm39) Y557H probably damaging Het
Nav3 T A 10: 109,689,115 (GRCm39) K387N probably damaging Het
Oga T G 19: 45,765,349 (GRCm39) T153P possibly damaging Het
Or5bb10 G T 19: 12,206,241 (GRCm39) A223E probably damaging Het
Pde4c T A 8: 71,199,508 (GRCm39) Y223N probably damaging Het
Psd T G 19: 46,303,237 (GRCm39) E715A probably damaging Het
Rpl7 A T 1: 16,172,807 (GRCm39) S171T probably benign Het
Rrm1 A G 7: 102,116,112 (GRCm39) *66W probably null Het
Scgb1b3 T A 7: 31,075,388 (GRCm39) H79Q probably damaging Het
Serpinb9 A T 13: 33,199,469 (GRCm39) M255L probably benign Het
Slc35a4 T C 18: 36,816,058 (GRCm39) V296A probably benign Het
Smgc G A 15: 91,722,596 (GRCm39) A9T possibly damaging Het
Snx11 C A 11: 96,661,522 (GRCm39) W161L probably benign Het
Spag17 A G 3: 99,929,068 (GRCm39) K533E possibly damaging Het
Spata31g1 A G 4: 42,971,512 (GRCm39) I282V probably benign Het
Spta1 A T 1: 174,041,061 (GRCm39) H1287L probably benign Het
Surf2 T C 2: 26,809,767 (GRCm39) F239S probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tbc1d22a C A 15: 86,235,852 (GRCm39) probably null Het
Tbcd A G 11: 121,387,886 (GRCm39) Q339R probably benign Het
Tdrd7 A G 4: 45,994,445 (GRCm39) H281R probably benign Het
Tomm5 A G 4: 45,107,915 (GRCm39) probably null Het
Ttc7 T C 17: 87,669,373 (GRCm39) probably null Het
Ulk1 A T 5: 110,937,382 (GRCm39) F638Y probably damaging Het
Vps35l T A 7: 118,409,195 (GRCm39) I612N probably damaging Het
Wdr93 C A 7: 79,418,109 (GRCm39) D277E probably damaging Het
Znrf3 T C 11: 5,231,477 (GRCm39) R583G probably damaging Het
Zscan29 T A 2: 120,991,641 (GRCm39) I716F probably damaging Het
Other mutations in Speer4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00869:Speer4b APN 5 27,703,716 (GRCm39) missense probably damaging 0.99
IGL00990:Speer4b APN 5 27,706,272 (GRCm39) missense probably damaging 1.00
IGL01343:Speer4b APN 5 27,702,881 (GRCm39) missense probably benign
R1772:Speer4b UTSW 5 27,705,236 (GRCm39) splice site probably benign
R4239:Speer4b UTSW 5 27,706,311 (GRCm39) missense probably benign 0.17
R4585:Speer4b UTSW 5 27,703,036 (GRCm39) missense probably null 1.00
R4586:Speer4b UTSW 5 27,703,036 (GRCm39) missense probably null 1.00
R4659:Speer4b UTSW 5 27,702,893 (GRCm39) missense probably benign
R4915:Speer4b UTSW 5 27,705,134 (GRCm39) missense probably benign 0.00
R4927:Speer4b UTSW 5 27,706,263 (GRCm39) missense probably damaging 0.97
R5619:Speer4b UTSW 5 27,703,815 (GRCm39) missense possibly damaging 0.84
R5860:Speer4b UTSW 5 27,705,226 (GRCm39) missense possibly damaging 0.60
R6990:Speer4b UTSW 5 27,702,076 (GRCm39) nonsense probably null
R7045:Speer4b UTSW 5 27,705,123 (GRCm39) missense probably damaging 1.00
R7146:Speer4b UTSW 5 27,703,708 (GRCm39) missense probably benign 0.00
R7170:Speer4b UTSW 5 27,703,821 (GRCm39) missense possibly damaging 0.70
R8437:Speer4b UTSW 5 27,703,818 (GRCm39) missense probably benign 0.01
R9763:Speer4b UTSW 5 27,705,206 (GRCm39) missense probably damaging 0.98
Z1088:Speer4b UTSW 5 27,702,939 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGCTCCTCTTGGACACTTGGTAGC -3'
(R):5'- CACTCAGGGTGACAGGTGAACAAC -3'

Sequencing Primer
(F):5'- GACACTTGGTAGCAGGGC -3'
(R):5'- CATACACCTTGGAGGGTTTAAAGC -3'
Posted On 2014-04-24