Incidental Mutation 'R3741:Spem2'
ID 270375
Institutional Source Beutler Lab
Gene Symbol Spem2
Ensembl Gene ENSMUSG00000044084
Gene Name SPEM family member 2
Synonyms 4933402P03Rik
MMRRC Submission 040727-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3741 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69816566-69818465 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69816730 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 470 (R470G)
Ref Sequence ENSEMBL: ENSMUSP00000051204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056941] [ENSMUST00000210714]
AlphaFold Q8C5U4
Predicted Effect probably benign
Transcript: ENSMUST00000045771
SMART Domains Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

DomainStartEndE-ValueType
Pfam:Spem1 12 196 3.7e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056941
AA Change: R470G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084
AA Change: R470G

DomainStartEndE-ValueType
Pfam:Spem1 1 261 2e-121 PFAM
low complexity region 281 294 N/A INTRINSIC
low complexity region 478 494 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210714
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,478,619 V1748A possibly damaging Het
Atp10b A T 11: 43,235,662 S1082C probably damaging Het
Atp8b2 C G 3: 89,946,031 A726P probably benign Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
Bbip1 T C 19: 53,932,175 M1V probably null Het
Bbox1 A G 2: 110,305,577 I19T possibly damaging Het
Bclaf3 T A X: 159,551,832 H41Q probably benign Het
Ctsm T A 13: 61,539,627 Q107L probably benign Het
Ctso G A 3: 81,952,249 V288I probably benign Het
Cyp2a4 A C 7: 26,308,544 K125N probably damaging Het
Dapk1 T C 13: 60,748,200 S701P probably benign Het
Dnah1 A G 14: 31,265,467 probably benign Het
Dnah11 A G 12: 118,131,341 M718T probably benign Het
Dnah2 C A 11: 69,448,469 A3071S probably damaging Het
Epb41l4a A T 18: 33,828,102 probably null Het
Fam135a A T 1: 24,014,811 M1215K probably damaging Het
Gm6489 T A 1: 31,287,683 noncoding transcript Het
Hhipl1 A G 12: 108,318,717 Y443C probably damaging Het
Hoxc13 G A 15: 102,921,438 G84D possibly damaging Het
Ifi207 T C 1: 173,727,562 I851M probably damaging Het
Lipk T G 19: 34,021,707 L134R probably damaging Het
Mov10l1 A G 15: 89,012,142 N678D possibly damaging Het
Msrb3 A T 10: 120,784,214 F67I probably damaging Het
Myo1a A G 10: 127,714,898 D593G probably benign Het
Nsf C T 11: 103,930,752 E26K possibly damaging Het
Nup210l A T 3: 90,207,394 M1759L probably benign Het
Optn C A 2: 5,034,198 M371I possibly damaging Het
Rims1 A T 1: 22,373,443 V380D probably damaging Het
Rnf148 A G 6: 23,654,065 C311R possibly damaging Het
Rrp12 T C 19: 41,885,728 D377G probably damaging Het
Sbp T A 17: 23,945,582 probably benign Het
Sipa1 T C 19: 5,654,857 E570G probably damaging Het
Syngr4 T C 7: 45,895,770 E5G possibly damaging Het
Tmem88b A G 4: 155,785,427 L59P probably damaging Het
Ttn T A 2: 76,790,359 K13995* probably null Het
Vmn1r69 A G 7: 10,580,142 Y221H possibly damaging Het
Zfp386 T A 12: 116,059,550 L296* probably null Het
Other mutations in Spem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Spem2 APN 11 69817239 missense possibly damaging 0.53
IGL02208:Spem2 APN 11 69817263 splice site probably null
IGL02315:Spem2 APN 11 69817365 missense probably damaging 0.98
IGL02325:Spem2 APN 11 69816963 missense probably benign 0.00
IGL02877:Spem2 APN 11 69817695 missense probably benign 0.16
R1476:Spem2 UTSW 11 69818070 missense probably benign 0.05
R1928:Spem2 UTSW 11 69817464 missense probably benign 0.03
R3811:Spem2 UTSW 11 69817164 missense possibly damaging 0.72
R4271:Spem2 UTSW 11 69817425 missense probably damaging 0.98
R4717:Spem2 UTSW 11 69817783 missense probably benign 0.37
R4997:Spem2 UTSW 11 69817732 missense probably benign 0.06
R5114:Spem2 UTSW 11 69817147 missense probably benign 0.33
R6137:Spem2 UTSW 11 69816696 nonsense probably null
R6302:Spem2 UTSW 11 69818265 missense possibly damaging 0.71
R6454:Spem2 UTSW 11 69817428 missense probably damaging 0.97
R6923:Spem2 UTSW 11 69817777 missense probably damaging 0.99
R7000:Spem2 UTSW 11 69817756 missense probably benign
R8516:Spem2 UTSW 11 69816895 missense possibly damaging 0.53
R9132:Spem2 UTSW 11 69816588 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AATCCCAGGTCAGTGAAAGG -3'
(R):5'- GGTGAGGCTTCATACCAAAGG -3'

Sequencing Primer
(F):5'- AGACAACCGAGTTTTCTGGACTC -3'
(R):5'- GCTTCATACCAAAGGGCCCC -3'
Posted On 2015-03-18