Incidental Mutation 'R8160:Smok3c'
ID 633470
Institutional Source Beutler Lab
Gene Symbol Smok3c
Ensembl Gene ENSMUSG00000075598
Gene Name sperm motility kinase 3C
Synonyms EG622486
MMRRC Submission 067586-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.700) question?
Stock # R8160 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 138051456-138064799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138063286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 258 (T258A)
Ref Sequence ENSEMBL: ENSMUSP00000141020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110967] [ENSMUST00000178402]
AlphaFold A0A087WSF2
Predicted Effect possibly damaging
Transcript: ENSMUST00000110967
AA Change: T258A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: T258A

DomainStartEndE-ValueType
S_TKc 28 276 2.88e-97 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178402
AA Change: T258A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: T258A

DomainStartEndE-ValueType
S_TKc 28 276 2.88e-97 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 C T 7: 133,569,770 (GRCm39) probably null Het
Aldh8a1 A G 10: 21,271,690 (GRCm39) D472G possibly damaging Het
Appl1 T C 14: 26,650,592 (GRCm39) I527V probably benign Het
Arhgef4 C A 1: 34,762,655 (GRCm39) T637K unknown Het
Atp7b G A 8: 22,487,575 (GRCm39) A1273V probably damaging Het
Ccl20 T A 1: 83,095,543 (GRCm39) S35T Het
Cdh24 C A 14: 54,875,946 (GRCm39) V208F probably damaging Het
Dchs2 A T 3: 83,178,112 (GRCm39) Q1055L probably benign Het
Dock8 G A 19: 25,124,711 (GRCm39) R1009Q probably damaging Het
Ext2 A T 2: 93,644,107 (GRCm39) V58E probably benign Het
Fam209 A T 2: 172,314,645 (GRCm39) I45F possibly damaging Het
Hfm1 T C 5: 107,043,899 (GRCm39) Y579C probably null Het
Hipk4 C T 7: 27,223,186 (GRCm39) A82V possibly damaging Het
Il17rc A G 6: 113,453,489 (GRCm39) Y223C possibly damaging Het
Itsn1 G A 16: 91,615,446 (GRCm39) R397H unknown Het
Kdm5b T A 1: 134,541,657 (GRCm39) M744K probably damaging Het
Mettl16 T C 11: 74,708,505 (GRCm39) V568A probably damaging Het
Mink1 C T 11: 70,496,907 (GRCm39) Q422* probably null Het
Mvb12b G T 2: 33,730,234 (GRCm39) D81E probably benign Het
Nostrin A T 2: 69,009,810 (GRCm39) I313F probably damaging Het
Nsun6 A G 2: 15,014,219 (GRCm39) probably null Het
Nt5dc1 T A 10: 34,200,392 (GRCm39) E209V possibly damaging Het
Oasl2 T C 5: 115,039,347 (GRCm39) probably benign Het
Or10a49 C T 7: 108,467,995 (GRCm39) R122Q possibly damaging Het
Or6aa1 C T 7: 86,044,473 (GRCm39) V78M possibly damaging Het
Or7e166 T A 9: 19,624,085 (GRCm39) probably benign Het
Ppm1h A T 10: 122,638,341 (GRCm39) T204S probably benign Het
Rad51b T A 12: 79,350,115 (GRCm39) L70I probably benign Het
Snai2 T C 16: 14,524,668 (GRCm39) V58A possibly damaging Het
Spmip7 T C 11: 11,437,734 (GRCm39) S246P unknown Het
St6galnac1 G A 11: 116,666,316 (GRCm39) probably benign Het
Tasor T A 14: 27,171,913 (GRCm39) N420K probably damaging Het
Other mutations in Smok3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4440:Smok3c UTSW 5 138,062,866 (GRCm39) missense possibly damaging 0.93
R4560:Smok3c UTSW 5 138,062,746 (GRCm39) missense probably benign 0.42
R4900:Smok3c UTSW 5 138,062,813 (GRCm39) missense probably damaging 1.00
R4924:Smok3c UTSW 5 138,063,844 (GRCm39) nonsense probably null
R5292:Smok3c UTSW 5 138,063,446 (GRCm39) missense probably damaging 1.00
R5446:Smok3c UTSW 5 138,062,895 (GRCm39) missense probably damaging 1.00
R6111:Smok3c UTSW 5 138,063,365 (GRCm39) missense probably damaging 0.98
R6154:Smok3c UTSW 5 138,062,747 (GRCm39) missense probably benign 0.04
R6225:Smok3c UTSW 5 138,063,314 (GRCm39) missense probably benign 0.15
R6759:Smok3c UTSW 5 138,063,699 (GRCm39) missense probably benign 0.04
R6979:Smok3c UTSW 5 138,062,987 (GRCm39) missense probably benign 0.12
R7127:Smok3c UTSW 5 138,062,971 (GRCm39) missense probably damaging 0.96
R7260:Smok3c UTSW 5 138,063,885 (GRCm39) missense possibly damaging 0.84
R7445:Smok3c UTSW 5 138,062,757 (GRCm39) missense probably damaging 1.00
R7962:Smok3c UTSW 5 138,063,341 (GRCm39) missense probably damaging 0.98
R8223:Smok3c UTSW 5 138,063,655 (GRCm39) missense probably benign 0.00
R8381:Smok3c UTSW 5 138,063,824 (GRCm39) missense probably benign
R8841:Smok3c UTSW 5 138,063,537 (GRCm39) missense probably damaging 0.99
R9166:Smok3c UTSW 5 138,063,781 (GRCm39) missense possibly damaging 0.61
R9369:Smok3c UTSW 5 138,063,770 (GRCm39) missense probably damaging 0.98
Z1177:Smok3c UTSW 5 138,062,864 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCCAAGATCGATGTATGG -3'
(R):5'- TTCAGTAGACAATAAGACGCCATGG -3'

Sequencing Primer
(F):5'- CCCAAGATCGATGTATGGACTCTTG -3'
(R):5'- CGTAACGAATCTTCAATATCTTGAGC -3'
Posted On 2020-07-13