Incidental Mutation 'R6193:Spmap2l'
ID 502702
Institutional Source Beutler Lab
Gene Symbol Spmap2l
Ensembl Gene ENSMUSG00000029248
Gene Name sperm microtubule associated protein 2 like
Synonyms 1700023E05Rik, Thegl
MMRRC Submission 044333-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6193 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 77163879-77209382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77164183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 62 (D62G)
Ref Sequence ENSEMBL: ENSMUSP00000112814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031161] [ENSMUST00000117880]
AlphaFold Q9DA15
Predicted Effect possibly damaging
Transcript: ENSMUST00000031161
AA Change: D62G

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: D62G

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 possibly damaging
Transcript: ENSMUST00000117880
AA Change: D62G

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: D62G

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 noncoding transcript
Transcript: ENSMUST00000129353
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A G 15: 60,792,629 (GRCm39) I106T probably benign Het
Aagab A C 9: 63,524,795 (GRCm39) N35H possibly damaging Het
Abcf1 A C 17: 36,274,464 (GRCm39) N161K possibly damaging Het
Adam11 T A 11: 102,662,087 (GRCm39) H140Q probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef26 A T 3: 62,247,213 (GRCm39) D99V possibly damaging Het
Arhgef28 A G 13: 98,121,888 (GRCm39) S559P probably damaging Het
Capn11 A G 17: 45,964,430 (GRCm39) probably null Het
Ccdc157 T C 11: 4,101,912 (GRCm39) H3R probably damaging Het
Cd101 A G 3: 100,927,778 (GRCm39) L101P probably damaging Het
Clca3a1 A G 3: 144,464,993 (GRCm39) V80A possibly damaging Het
Cnot6 T A 11: 49,570,850 (GRCm39) I381F probably benign Het
Cntn3 T A 6: 102,185,092 (GRCm39) I675F probably benign Het
Cplx2 C T 13: 54,527,406 (GRCm39) P97S probably damaging Het
Crtac1 T A 19: 42,312,236 (GRCm39) E159V possibly damaging Het
Cyp27a1 A G 1: 74,776,231 (GRCm39) I416V probably benign Het
Cyp2d37-ps T C 15: 82,574,014 (GRCm39) noncoding transcript Het
Cyp2d9 A G 15: 82,336,728 (GRCm39) T26A probably benign Het
Cyp2j7 T A 4: 96,083,440 (GRCm39) R503S probably damaging Het
Dclk1 A T 3: 55,424,292 (GRCm39) probably null Het
Dgkq A T 5: 108,803,366 (GRCm39) C231* probably null Het
Dync1i1 T A 6: 5,730,679 (GRCm39) M38K probably benign Het
Eif2ak4 C T 2: 118,231,081 (GRCm39) probably benign Het
Ephx2 A T 14: 66,326,961 (GRCm39) D411E probably benign Het
Ephx2 T G 14: 66,349,669 (GRCm39) Q34P probably benign Het
Fer1l5 A T 1: 36,448,517 (GRCm39) N1092Y probably benign Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fzd4 A T 7: 89,057,197 (GRCm39) K415* probably null Het
Gfi1 A T 5: 107,869,397 (GRCm39) Y278N probably benign Het
Gm11565 T C 11: 99,806,070 (GRCm39) M154T probably benign Het
Gm7247 A G 14: 51,759,299 (GRCm39) I93V possibly damaging Het
Golm1 T G 13: 59,792,972 (GRCm39) I178L probably benign Het
Grip1 A T 10: 119,874,219 (GRCm39) D302V probably damaging Het
Gtf2h1 G A 7: 46,456,254 (GRCm39) probably null Het
Herc2 C A 7: 55,806,649 (GRCm39) P2372T probably damaging Het
Ighv1-59 C A 12: 115,298,786 (GRCm39) L89F probably damaging Het
Ighv7-4 G A 12: 114,186,445 (GRCm39) A109V possibly damaging Het
Kcnk10 G T 12: 98,407,031 (GRCm39) Q222K probably benign Het
Klra6 A T 6: 129,995,881 (GRCm39) M159K probably benign Het
Lzts3 T C 2: 130,479,306 (GRCm39) T36A probably damaging Het
Mgam T A 6: 40,724,854 (GRCm39) Y443* probably null Het
Mmp23 T A 4: 155,735,990 (GRCm39) M221L possibly damaging Het
Mmp7 T A 9: 7,695,519 (GRCm39) V132E probably damaging Het
Npas2 C A 1: 39,331,843 (GRCm39) T86N probably damaging Het
Or1e32 T A 11: 73,705,650 (GRCm39) H86L probably benign Het
Or5al7 C T 2: 85,992,628 (GRCm39) V222M possibly damaging Het
Papola A T 12: 105,786,605 (GRCm39) E103V probably benign Het
Parp9 A T 16: 35,767,921 (GRCm39) N34Y possibly damaging Het
Pcdh7 A G 5: 57,877,666 (GRCm39) D407G probably damaging Het
Pcdhb5 T G 18: 37,455,080 (GRCm39) Y487D probably damaging Het
Pira12 C G 7: 3,901,049 (GRCm39) probably null Het
Pla2g4a T C 1: 149,778,181 (GRCm39) D5G probably damaging Het
Plxnb1 T C 9: 108,933,971 (GRCm39) L733P probably benign Het
Ppfia4 T C 1: 134,251,899 (GRCm39) D425G probably benign Het
Prss2 T G 6: 41,498,754 (GRCm39) I6S unknown Het
Psme3ip1 A G 8: 95,302,348 (GRCm39) S228P probably damaging Het
Qrfprl T A 6: 65,433,142 (GRCm39) F321I probably damaging Het
Qrich2 T A 11: 116,344,979 (GRCm39) I1693L probably benign Het
Rad52 T C 6: 119,897,143 (GRCm39) V324A probably benign Het
Rapgef2 A T 3: 78,976,751 (GRCm39) Y1352N possibly damaging Het
Rsad2 T G 12: 26,506,186 (GRCm39) Y78S probably damaging Het
Scaf1 A G 7: 44,656,204 (GRCm39) probably benign Het
Sfxn5 T C 6: 85,246,918 (GRCm39) T131A probably damaging Het
Slc4a10 T G 2: 62,073,701 (GRCm39) probably null Het
Syt1 A G 10: 108,336,597 (GRCm39) V357A probably benign Het
Tenm2 T A 11: 35,937,621 (GRCm39) D1685V probably damaging Het
Tmc3 A G 7: 83,252,543 (GRCm39) T315A probably benign Het
Tmem266 T C 9: 55,344,493 (GRCm39) L375P probably benign Het
Tsks T G 7: 44,603,263 (GRCm39) L355R probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ube2f T A 1: 91,203,041 (GRCm39) probably null Het
Usp37 A T 1: 74,532,087 (GRCm39) V102D probably damaging Het
Usp44 G A 10: 93,683,010 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,575,983 (GRCm39) F527S probably benign Het
Zfp101 A C 17: 33,600,720 (GRCm39) Y345* probably null Het
Zfp160 C A 17: 21,247,124 (GRCm39) A558E probably benign Het
Zfp236 T C 18: 82,622,372 (GRCm39) E1686G probably damaging Het
Zfp655 T A 5: 145,181,586 (GRCm39) D481E probably benign Het
Zswim4 A G 8: 84,952,774 (GRCm39) V396A 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
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
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'- TCAGGTTCATCCGTGCGATC -3'
(R):5'- CTGCGTTGGGAAACAAATCATC -3'

Sequencing Primer
(F):5'- TTCATCCGTGCGATCCGAGG -3'
(R):5'- TGACTGAAGGGGATCACTGCC -3'
Posted On 2018-02-27