Incidental Mutation 'R7070:Spmap2l'
ID 548824
Institutional Source Beutler Lab
Gene Symbol Spmap2l
Ensembl Gene ENSMUSG00000029248
Gene Name sperm microtubule associated protein 2 like
Synonyms 1700023E05Rik, Thegl
MMRRC Submission 045166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7070 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 77163879-77209382 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 77195124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031161] [ENSMUST00000117880] [ENSMUST00000118941]
AlphaFold Q9DA15
Predicted Effect probably null
Transcript: ENSMUST00000031161
SMART Domains Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248

DomainStartEndE-ValueType
low complexity region 21 30 N/A INTRINSIC
low complexity region 48 65 N/A INTRINSIC
THEG 172 190 4.56e2 SMART
THEG 212 231 5.84e0 SMART
THEG 258 277 3.1e-1 SMART
THEG 291 310 8.37e2 SMART
THEG 327 346 7.65e1 SMART
THEG 367 386 3.61e1 SMART
THEG 403 422 1.15e1 SMART
THEG 440 459 9.98e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117880
SMART Domains Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248

DomainStartEndE-ValueType
low complexity region 21 30 N/A INTRINSIC
low complexity region 48 65 N/A INTRINSIC
THEG 172 190 4.56e2 SMART
THEG 212 231 5.84e0 SMART
THEG 258 277 3.1e-1 SMART
THEG 291 310 8.37e2 SMART
THEG 327 346 7.65e1 SMART
THEG 367 386 3.61e1 SMART
THEG 403 422 1.15e1 SMART
THEG 440 459 9.98e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118941
AA Change: R99S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112660
Gene: ENSMUSG00000029248
AA Change: R99S

DomainStartEndE-ValueType
Pfam:THEG 25 57 1.6e-4 PFAM
Pfam:THEG 60 124 1.5e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,232 (GRCm39) Y156H probably damaging Het
Abca13 T A 11: 9,240,701 (GRCm39) F855I probably benign Het
Abca2 T G 2: 25,333,007 (GRCm39) F1569V probably benign Het
Adcy8 T A 15: 64,792,404 (GRCm39) N184I probably damaging Het
Akap3 T C 6: 126,850,987 (GRCm39) V835A probably damaging Het
Atg5 T A 10: 44,162,150 (GRCm39) L22H probably damaging Het
Atp13a5 A G 16: 29,152,879 (GRCm39) F196L possibly damaging Het
C1qtnf9 A G 14: 61,017,232 (GRCm39) H254R probably damaging Het
Capza3 C T 6: 139,987,646 (GRCm39) R82C probably damaging Het
Ccdc126 A G 6: 49,316,796 (GRCm39) D92G probably damaging Het
Cdh12 T A 15: 21,583,915 (GRCm39) M585K probably benign Het
Chrnb3 A T 8: 27,883,989 (GRCm39) Y242F probably damaging Het
Cngb3 T C 4: 19,425,593 (GRCm39) V467A possibly damaging Het
Cnot8 A G 11: 58,008,278 (GRCm39) D248G probably benign Het
Cntn1 C T 15: 92,151,917 (GRCm39) T452M probably damaging Het
Cygb C A 11: 116,544,851 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,477,879 (GRCm39) V35M probably damaging Het
Dcaf17 C T 2: 70,918,857 (GRCm39) T477M probably benign Het
Dpp3 A T 19: 4,968,356 (GRCm39) F239I probably benign Het
Dst T A 1: 34,314,383 (GRCm39) V6442E probably damaging Het
Enpp2 T A 15: 54,762,685 (GRCm39) I188F probably damaging Het
Galnt5 A G 2: 57,888,621 (GRCm39) M74V probably benign Het
Grin2a T C 16: 9,397,288 (GRCm39) D933G possibly damaging Het
Gtf2i T A 5: 134,311,657 (GRCm39) E223D probably damaging Het
H2-M5 C A 17: 37,300,051 (GRCm39) G41V possibly damaging Het
Hars2 C T 18: 36,924,165 (GRCm39) R501* probably null Het
Heatr4 A G 12: 84,016,632 (GRCm39) V545A probably benign Het
Hsd3b3 T A 3: 98,649,787 (GRCm39) T179S possibly damaging Het
Ighv5-6 A G 12: 113,589,429 (GRCm39) V17A probably damaging Het
Jak3 A G 8: 72,137,255 (GRCm39) D772G probably damaging Het
Jakmip2 A T 18: 43,690,393 (GRCm39) probably null Het
Kcnj15 C G 16: 95,096,690 (GRCm39) T104S probably damaging Het
Kndc1 A G 7: 139,501,744 (GRCm39) E927G probably damaging Het
Larp1b G T 3: 40,931,086 (GRCm39) G275C probably damaging Het
Lyst C A 13: 13,932,029 (GRCm39) H3552Q probably benign Het
Mast2 A T 4: 116,168,052 (GRCm39) I960N probably benign Het
Mcee G A 7: 64,050,078 (GRCm39) V70I possibly damaging Het
Muc16 G A 9: 18,557,219 (GRCm39) Q3025* probably null Het
Nrg1 T A 8: 32,339,465 (GRCm39) T45S probably damaging Het
Nutm1 T A 2: 112,079,806 (GRCm39) H703L probably benign Het
Or5m10 G A 2: 85,718,034 (GRCm39) V297I probably benign Het
Or7a38 A T 10: 78,753,102 (GRCm39) I143L probably benign Het
Pbx1 A C 1: 168,023,337 (GRCm39) C273G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Phf1 A G 17: 27,153,307 (GRCm39) T42A possibly damaging Het
Pigm T A 1: 172,205,233 (GRCm39) I323N probably damaging Het
Plcg2 G A 8: 118,323,045 (GRCm39) R700H probably benign Het
Ptx4 G A 17: 25,341,971 (GRCm39) A149T probably benign Het
Rab6a A G 7: 100,279,064 (GRCm39) D68G probably damaging Het
Rcan3 C T 4: 135,143,898 (GRCm39) E185K probably damaging Het
Rnf14 A G 18: 38,434,781 (GRCm39) N76S possibly damaging Het
Rpf1 A T 3: 146,217,939 (GRCm39) F192I probably damaging Het
Rps6ka1 T C 4: 133,588,759 (GRCm39) T285A probably benign Het
Rrp8 T C 7: 105,384,083 (GRCm39) K94E possibly damaging Het
Rsbn1 A G 3: 103,836,299 (GRCm39) K122E probably damaging Het
Senp1 T C 15: 97,980,187 (GRCm39) T53A possibly damaging Het
Slc23a1 T G 18: 35,754,834 (GRCm39) D519A probably damaging Het
Slfn14 T G 11: 83,167,531 (GRCm39) R661S probably benign Het
Snta1 T C 2: 154,222,979 (GRCm39) E248G probably benign Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Stk11ip C T 1: 75,504,259 (GRCm39) H297Y probably benign Het
Synpr T A 14: 13,493,628 (GRCm38) F76I probably damaging Het
Tns2 A G 15: 102,012,968 (GRCm39) R27G possibly damaging Het
Trav5-4 C T 14: 53,941,912 (GRCm39) S95F possibly damaging Het
Ttyh1 T C 7: 4,136,363 (GRCm39) Y330H probably damaging Het
Ugt1a2 T A 1: 88,129,224 (GRCm39) probably null Het
Vmn2r69 T C 7: 85,060,688 (GRCm39) I299V probably damaging Het
Vmn2r90 T A 17: 17,924,313 (GRCm39) D37E probably damaging Het
Other mutations in Spmap2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Spmap2l APN 5 77,208,678 (GRCm39) missense probably damaging 1.00
IGL02008:Spmap2l APN 5 77,208,605 (GRCm39) missense probably benign 0.01
IGL02014:Spmap2l APN 5 77,195,002 (GRCm39) missense probably damaging 0.99
IGL02525:Spmap2l APN 5 77,164,400 (GRCm39) missense probably benign 0.08
IGL03036:Spmap2l APN 5 77,164,197 (GRCm39) missense possibly damaging 0.86
IGL03200:Spmap2l APN 5 77,208,711 (GRCm39) missense possibly damaging 0.66
IGL03302:Spmap2l APN 5 77,202,423 (GRCm39) missense probably benign 0.09
R0242:Spmap2l UTSW 5 77,164,152 (GRCm39) nonsense probably null
R0242:Spmap2l UTSW 5 77,164,152 (GRCm39) nonsense probably null
R0483:Spmap2l UTSW 5 77,185,204 (GRCm39) splice site probably benign
R1875:Spmap2l UTSW 5 77,202,431 (GRCm39) missense probably benign 0.29
R2121:Spmap2l UTSW 5 77,208,605 (GRCm39) missense probably benign 0.01
R2232:Spmap2l UTSW 5 77,207,252 (GRCm39) missense possibly damaging 0.84
R2280:Spmap2l UTSW 5 77,207,214 (GRCm39) missense probably damaging 1.00
R2281:Spmap2l UTSW 5 77,207,214 (GRCm39) missense probably damaging 1.00
R4422:Spmap2l UTSW 5 77,202,383 (GRCm39) missense possibly damaging 0.91
R4423:Spmap2l UTSW 5 77,202,383 (GRCm39) missense possibly damaging 0.91
R4424:Spmap2l UTSW 5 77,202,383 (GRCm39) missense possibly damaging 0.91
R4935:Spmap2l UTSW 5 77,185,200 (GRCm39) critical splice donor site probably null
R5041:Spmap2l UTSW 5 77,203,928 (GRCm39) missense probably benign 0.05
R5175:Spmap2l UTSW 5 77,164,317 (GRCm39) missense probably benign 0.00
R5560:Spmap2l UTSW 5 77,164,333 (GRCm39) missense possibly damaging 0.61
R6086:Spmap2l UTSW 5 77,209,152 (GRCm39) missense probably benign 0.11
R6193:Spmap2l UTSW 5 77,164,183 (GRCm39) missense possibly damaging 0.85
R7453:Spmap2l UTSW 5 77,208,633 (GRCm39) missense probably damaging 1.00
R7703:Spmap2l UTSW 5 77,164,444 (GRCm39) missense probably benign 0.34
R8534:Spmap2l UTSW 5 77,207,325 (GRCm39) missense probably damaging 1.00
R8899:Spmap2l UTSW 5 77,185,200 (GRCm39) critical splice donor site probably null
R9126:Spmap2l UTSW 5 77,164,453 (GRCm39) missense probably damaging 0.96
R9525:Spmap2l UTSW 5 77,195,138 (GRCm39) missense probably benign 0.01
RF007:Spmap2l UTSW 5 77,164,255 (GRCm39) small insertion probably benign
RF010:Spmap2l UTSW 5 77,164,274 (GRCm39) small insertion probably benign
RF014:Spmap2l UTSW 5 77,164,247 (GRCm39) small insertion probably benign
RF016:Spmap2l UTSW 5 77,164,255 (GRCm39) small insertion probably benign
RF020:Spmap2l UTSW 5 77,164,247 (GRCm39) small insertion probably benign
RF028:Spmap2l UTSW 5 77,164,248 (GRCm39) small insertion probably benign
RF030:Spmap2l UTSW 5 77,164,248 (GRCm39) small insertion probably benign
RF031:Spmap2l UTSW 5 77,164,257 (GRCm39) small insertion probably benign
RF033:Spmap2l UTSW 5 77,164,276 (GRCm39) small insertion probably benign
RF033:Spmap2l UTSW 5 77,164,252 (GRCm39) small insertion probably benign
RF036:Spmap2l UTSW 5 77,164,276 (GRCm39) small insertion probably benign
RF037:Spmap2l UTSW 5 77,164,268 (GRCm39) small insertion probably benign
RF039:Spmap2l UTSW 5 77,164,249 (GRCm39) small insertion probably benign
RF044:Spmap2l UTSW 5 77,164,252 (GRCm39) small insertion probably benign
RF046:Spmap2l UTSW 5 77,164,250 (GRCm39) small insertion probably benign
RF055:Spmap2l UTSW 5 77,164,250 (GRCm39) small insertion probably benign
RF060:Spmap2l UTSW 5 77,164,274 (GRCm39) small insertion probably benign
RF063:Spmap2l UTSW 5 77,164,273 (GRCm39) small insertion probably benign
RF064:Spmap2l UTSW 5 77,164,262 (GRCm39) small insertion probably benign
Z1176:Spmap2l UTSW 5 77,208,641 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGGAGCCATCTTTGAGTTGC -3'
(R):5'- TTGCAAGTCTTATAAGATGGGAGAG -3'

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