Incidental Mutation 'R5041:Spmap2l'
ID 452798
Institutional Source Beutler Lab
Gene Symbol Spmap2l
Ensembl Gene ENSMUSG00000029248
Gene Name sperm microtubule associated protein 2 like
Synonyms 1700023E05Rik, Thegl
MMRRC Submission 042631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5041 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 77163879-77209382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77203928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 319 (T319A)
Ref Sequence ENSEMBL: ENSMUSP00000112814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031161] [ENSMUST00000117880]
AlphaFold Q9DA15
Predicted Effect probably benign
Transcript: ENSMUST00000031161
AA Change: T319A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: T319A

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 benign
Transcript: ENSMUST00000117880
AA Change: T319A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: T319A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A G 16: 56,550,711 (GRCm39) F667S probably benign Het
Akna A G 4: 63,305,381 (GRCm39) Y462H possibly damaging Het
Anxa11 G T 14: 25,875,188 (GRCm39) E278* probably null Het
Ap3s2 T C 7: 79,570,267 (GRCm39) Y20C probably benign Het
Atxn7 T C 14: 14,096,317 (GRCm38) probably null Het
AW551984 T C 9: 39,511,894 (GRCm39) Y39C probably damaging Het
Becn1 A T 11: 101,179,662 (GRCm39) S442T probably benign Het
Bhlhe40 C T 6: 108,639,546 (GRCm39) T108I probably damaging Het
Cnst A G 1: 179,432,593 (GRCm39) D252G probably damaging Het
Cpxm1 A G 2: 130,235,990 (GRCm39) S391P probably damaging Het
Ctnna2 T A 6: 76,892,746 (GRCm39) N814Y probably damaging Het
Ddx3y T A Y: 1,266,611 (GRCm39) Y282F probably benign Het
Ddx56 A G 11: 6,214,178 (GRCm39) V357A probably damaging Het
Frmpd1 T G 4: 45,278,878 (GRCm39) C534W probably damaging Het
Gimap8 A G 6: 48,636,097 (GRCm39) N621D probably damaging Het
Herc1 T A 9: 66,336,327 (GRCm39) I1624N possibly damaging Het
Htr7 A C 19: 36,034,467 (GRCm39) W63G probably benign Het
Ly6g6c T A 17: 35,284,428 (GRCm39) probably null Het
Macf1 T C 4: 123,290,839 (GRCm39) probably null Het
Mfrp A G 9: 44,013,575 (GRCm39) D62G probably damaging Het
Ncam1 T C 9: 49,478,085 (GRCm39) Y173C probably damaging Het
Nwd1 T C 8: 73,431,683 (GRCm39) V1185A possibly damaging Het
Or4c113 A T 2: 88,885,265 (GRCm39) C168* probably null Het
Or51h7 T C 7: 102,591,785 (GRCm39) probably null Het
Pcf11 G A 7: 92,307,613 (GRCm39) P852S probably benign Het
Pramel25 T C 4: 143,520,260 (GRCm39) V4A probably benign Het
Ralgapa2 T C 2: 146,327,071 (GRCm39) I63V probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Rubcnl T C 14: 75,287,572 (GRCm39) F619L probably damaging Het
Sec24d A T 3: 123,087,880 (GRCm39) Q247L probably damaging Het
Spns3 G T 11: 72,427,373 (GRCm39) Q306K possibly damaging Het
Sstr1 T C 12: 58,259,941 (GRCm39) V188A possibly damaging Het
Supt5 A T 7: 28,014,805 (GRCm39) L1024Q probably damaging Het
Tent4b CCCAACAACGCCAACAA CCCAACAA 8: 88,981,878 (GRCm39) probably benign Het
Unc13b T A 4: 43,237,836 (GRCm39) H3452Q probably benign Het
Usp28 A G 9: 48,949,073 (GRCm39) Q864R probably benign Het
Vmn2r43 T C 7: 8,247,806 (GRCm39) T786A probably damaging Het
Yy1 TCACCACCACCACCACCACCACCACCACC TCACCACCACCACCACCACCACCACCACCACC 12: 108,759,557 (GRCm39) probably benign 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
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
R7070:Spmap2l UTSW 5 77,195,124 (GRCm39) critical splice donor site probably null
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'- TCGCATGCGTGTGGGAAAAG -3'
(R):5'- GAGTTCCACCTCTAATACAGTGGAG -3'

Sequencing Primer
(F):5'- AGCATGTGCACACCTGTAG -3'
(R):5'- GTGGAGCCACAAATTGCTATGCC -3'
Posted On 2017-01-06