Incidental Mutation 'R1207:Spmip8'
ID 164806
Institutional Source Beutler Lab
Gene Symbol Spmip8
Ensembl Gene ENSMUSG00000090206
Gene Name sperm microtubule inner protein 8
Synonyms Tepp, 1700055M20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R1207 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 96038148-96053239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 96047137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 94 (R94L)
Ref Sequence ENSEMBL: ENSMUSP00000148526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057717] [ENSMUST00000098480] [ENSMUST00000135142] [ENSMUST00000161029] [ENSMUST00000162294] [ENSMUST00000212056]
AlphaFold Q6IMH0
Predicted Effect probably benign
Transcript: ENSMUST00000057717
SMART Domains Protein: ENSMUSP00000053397
Gene: ENSMUSG00000046556

DomainStartEndE-ValueType
low complexity region 6 29 N/A INTRINSIC
low complexity region 53 64 N/A INTRINSIC
Blast:ZnF_C2H2 75 99 6e-7 BLAST
ZnF_C2H2 103 123 7.57e1 SMART
ZnF_C2H2 131 153 8.67e-1 SMART
low complexity region 168 189 N/A INTRINSIC
ZnF_C2H2 201 223 9.73e-4 SMART
ZnF_C2H2 229 251 1.47e-3 SMART
ZnF_C2H2 257 279 1.12e-3 SMART
ZnF_C2H2 314 336 6.42e-4 SMART
ZnF_C2H2 342 364 1.2e-3 SMART
ZnF_C2H2 370 392 8.81e-2 SMART
ZnF_C2H2 398 418 2.75e1 SMART
ZnF_C2H2 427 449 1.84e-4 SMART
ZnF_C2H2 457 477 1.27e2 SMART
ZnF_C2H2 485 507 2.79e-4 SMART
ZnF_C2H2 513 535 6.42e-4 SMART
ZnF_C2H2 541 563 4.11e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098480
AA Change: R51L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000135142
AA Change: R163L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000153991
AA Change: R24L
Predicted Effect probably damaging
Transcript: ENSMUST00000161029
AA Change: R163L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000162294
AA Change: R5L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000212056
AA Change: R94L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Parp4 A C 14: 56,885,339 (GRCm39) I1473L unknown Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Ttn T A 2: 76,587,404 (GRCm39) K13236M probably damaging Het
Other mutations in Spmip8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Spmip8 APN 8 96,039,676 (GRCm39) missense probably damaging 1.00
BB004:Spmip8 UTSW 8 96,039,786 (GRCm39) missense probably benign 0.00
BB014:Spmip8 UTSW 8 96,039,786 (GRCm39) missense probably benign 0.00
R1207:Spmip8 UTSW 8 96,047,137 (GRCm39) missense probably damaging 1.00
R3114:Spmip8 UTSW 8 96,039,809 (GRCm39) critical splice donor site probably null
R4523:Spmip8 UTSW 8 96,039,638 (GRCm39) nonsense probably null
R5935:Spmip8 UTSW 8 96,046,620 (GRCm39) missense possibly damaging 0.65
R6478:Spmip8 UTSW 8 96,047,894 (GRCm39) splice site probably null
R7927:Spmip8 UTSW 8 96,039,786 (GRCm39) missense probably benign 0.00
R8170:Spmip8 UTSW 8 96,046,686 (GRCm39) missense probably damaging 0.98
R8810:Spmip8 UTSW 8 96,047,883 (GRCm39) utr 3 prime probably benign
Z1177:Spmip8 UTSW 8 96,039,693 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAACTCAAGGTTAGGGAAGCCAC -3'
(R):5'- ACGGAGCTTGGAGATGCCAGATTC -3'

Sequencing Primer
(F):5'- AAGCCACTAGGGCTGGG -3'
(R):5'- GCAGATTGTCACTTACAGCG -3'
Posted On 2014-03-28