Incidental Mutation 'R4424:Spmap2l'
ID 327259
Institutional Source Beutler Lab
Gene Symbol Spmap2l
Ensembl Gene ENSMUSG00000029248
Gene Name sperm microtubule associated protein 2 like
Synonyms 1700023E05Rik, Thegl
MMRRC Submission 041696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4424 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 77163879-77209382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77202383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 268 (I268T)
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: I268T

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: I268T

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: I268T

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: I268T

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 0.0638 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (69/73)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,445,491 (GRCm39) probably benign Het
Aimp1 A T 3: 132,373,253 (GRCm39) L229Q probably benign Het
Ankrd16 T A 2: 11,789,215 (GRCm39) D267E possibly damaging Het
Apol11b A G 15: 77,522,133 (GRCm39) probably null Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Arid3b A T 9: 57,741,151 (GRCm39) D98E probably benign Het
Art2b T A 7: 101,229,129 (GRCm39) I257F probably benign Het
Atp5f1a T A 18: 77,867,766 (GRCm39) probably benign Het
Carmil3 A G 14: 55,738,928 (GRCm39) T861A probably benign Het
Cep164 A T 9: 45,691,002 (GRCm39) F1259L possibly damaging Het
Cfap91 G T 16: 38,140,727 (GRCm39) P409T probably damaging Het
Chrnd T C 1: 87,123,512 (GRCm39) V350A probably benign Het
Clcn7 T C 17: 25,379,150 (GRCm39) L744P probably damaging Het
Csl T A 10: 99,594,453 (GRCm39) D204V possibly damaging Het
Cstdc3 A G 16: 36,132,951 (GRCm39) D76G probably null Het
Cyp2c29 G T 19: 39,275,620 (GRCm39) W20L probably damaging Het
Dhrs13 G T 11: 77,927,951 (GRCm39) G266* probably null Het
Dll3 T C 7: 27,995,716 (GRCm39) N362D probably damaging Het
Efcab3 T G 11: 104,626,940 (GRCm39) probably null Het
Fanca A G 8: 124,015,532 (GRCm39) V715A probably benign Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Fpr2 C T 17: 18,113,394 (GRCm39) P130L probably damaging Het
Glce A G 9: 61,967,535 (GRCm39) Y539H probably damaging Het
Hfe A T 13: 23,890,866 (GRCm39) V91E probably benign Het
Hoxd13 A T 2: 74,500,301 (GRCm39) K281* probably null Het
Ighv1-66 A T 12: 115,557,157 (GRCm39) W3R probably damaging Het
Impg2 G A 16: 56,080,388 (GRCm39) V622I possibly damaging Het
Jun A G 4: 94,939,084 (GRCm39) M142T probably benign Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lama3 T A 18: 12,652,929 (GRCm39) C216* probably null Het
Lin54 G T 5: 100,594,419 (GRCm39) T582K probably damaging Het
Mapk11 A G 15: 89,029,576 (GRCm39) probably null Het
Mindy3 A G 2: 12,353,010 (GRCm39) M397T probably benign Het
Mrpl41 T C 2: 24,864,418 (GRCm39) T85A possibly damaging Het
Msh6 T A 17: 88,298,217 (GRCm39) L1354* probably null Het
Mtmr12 T C 15: 12,230,400 (GRCm39) V41A probably damaging Het
Myh2 A T 11: 67,083,551 (GRCm39) Q1478L probably benign Het
Myo6 A G 9: 80,195,320 (GRCm39) K897E probably benign Het
Naprt G T 15: 75,764,605 (GRCm39) probably null Het
Nrl G A 14: 55,759,675 (GRCm39) S84L probably benign Het
Nxf1 A G 19: 8,744,128 (GRCm39) probably benign Het
Or8g2b A T 9: 39,751,652 (GRCm39) R307S possibly damaging Het
Panx2 G T 15: 88,952,423 (GRCm39) V305F probably benign Het
Pcdhga1 T C 18: 37,795,632 (GRCm39) L212P probably damaging Het
Pik3ap1 G A 19: 41,364,320 (GRCm39) T133I probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Prkdc G A 16: 15,653,946 (GRCm39) R3901H probably damaging Het
Prkdc A G 16: 15,591,603 (GRCm39) K2694E probably damaging Het
Psma8 A G 18: 14,854,247 (GRCm39) I42M probably damaging Het
Ptprd A T 4: 76,021,200 (GRCm39) M599K probably benign Het
Rnmt A G 18: 68,444,742 (GRCm39) D237G probably null Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scaf11 G A 15: 96,316,309 (GRCm39) T1085I possibly damaging Het
Sec14l3 G A 11: 4,016,210 (GRCm39) R43Q probably damaging Het
Shc4 G T 2: 125,494,442 (GRCm39) T131K probably benign Het
Snx27 A G 3: 94,469,330 (GRCm39) F4L probably benign Het
Sorcs1 T C 19: 50,367,379 (GRCm39) T228A probably damaging Het
Sptan1 C T 2: 29,919,721 (GRCm39) probably benign Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tex47 G T 5: 7,355,364 (GRCm39) A182S probably benign Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Upf3a C A 8: 13,846,573 (GRCm39) P318T probably benign Het
Zbtb40 A T 4: 136,726,005 (GRCm39) M518K probably damaging Het
Zcchc14 G A 8: 122,378,680 (GRCm39) probably benign Het
Zfp687 G A 3: 94,916,439 (GRCm39) P861L 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
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
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'- AGCACACATGTAAGCTTCCTGC -3'
(R):5'- CACCTGCTGCAGATATTCAACAG -3'

Sequencing Primer
(F):5'- ATGTAAGCTTCCTGCCTGCTC -3'
(R):5'- GCTGCAGATATTCAACAGTTTTACCC -3'
Posted On 2015-07-07