Incidental Mutation 'R4935:Spmap2l'
ID 380296
Institutional Source Beutler Lab
Gene Symbol Spmap2l
Ensembl Gene ENSMUSG00000029248
Gene Name sperm microtubule associated protein 2 like
Synonyms 1700023E05Rik, Thegl
MMRRC Submission 042535-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4935 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 77163879-77209382 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 77185200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031161] [ENSMUST00000117880] [ENSMUST00000118941]
AlphaFold Q9DA15
Predicted Effect probably benign
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 benign
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 null
Transcript: ENSMUST00000118941
SMART Domains Protein: ENSMUSP00000112660
Gene: ENSMUSG00000029248

DomainStartEndE-ValueType
Pfam:THEG 25 57 1.6e-4 PFAM
Pfam:THEG 60 124 1.5e-14 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Abcb1a T A 5: 8,787,773 (GRCm39) probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adcyap1 A T 17: 93,511,541 (GRCm39) I172L probably benign Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Frmd5 A G 2: 121,393,405 (GRCm39) V141A possibly damaging Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
H2aj T A 6: 136,785,681 (GRCm39) V115E possibly damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnc2 A G 10: 112,108,133 (GRCm39) T175A probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Mrps30 A T 13: 118,523,431 (GRCm39) F114I possibly damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plaur A T 7: 24,166,141 (GRCm39) S71C possibly damaging Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S 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
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'- TCAACAGTGCCAGCCTTCTC -3'
(R):5'- GACTTTTGGAGGGCTTCAAGAG -3'

Sequencing Primer
(F):5'- GTGCCAGCCTTCTCCATAAGAG -3'
(R):5'- AGAGCCTCACCAGCTTTATC -3'
Posted On 2016-04-15