Incidental Mutation 'R4016:Spatc1l'
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ID311950
Institutional Source Beutler Lab
Gene Symbol Spatc1l
Ensembl Gene ENSMUSG00000009115
Gene Namespermatogenesis and centriole associated 1 like
Synonyms
MMRRC Submission 040847-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4016 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location76562272-76570201 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76562489 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 42 (S42G)
Ref Sequence ENSEMBL: ENSMUSP00000101054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009259] [ENSMUST00000105414]
Predicted Effect probably benign
Transcript: ENSMUST00000009259
AA Change: S42G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009259
Gene: ENSMUSG00000009115
AA Change: S42G

DomainStartEndE-ValueType
Pfam:Speriolin_N 1 155 1.9e-49 PFAM
Pfam:Speriolin_C 197 342 3e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105414
AA Change: S42G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101054
Gene: ENSMUSG00000009115
AA Change: S42G

DomainStartEndE-ValueType
Pfam:Speriolin_N 1 155 3.6e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136382
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 G A 10: 21,395,571 V399I probably benign Het
Apold1 A G 6: 134,983,906 I108V probably benign Het
Arpc5 G A 1: 152,768,856 probably benign Het
Capn11 T A 17: 45,653,756 D45V probably damaging Het
Dctpp1 G A 7: 127,257,113 R146C probably damaging Het
Dlat C T 9: 50,649,631 probably null Het
Dock10 T A 1: 80,606,569 D140V probably damaging Het
Dtx3 A G 10: 127,191,171 V378A probably benign Het
Ezh2 A G 6: 47,544,582 I414T probably benign Het
Gm1979 C T 5: 26,004,606 W41* probably null Het
Igf2bp2 T C 16: 22,063,676 N425S probably damaging Het
Kdm5a T A 6: 120,394,106 Y504N probably damaging Het
Map3k21 T A 8: 125,911,185 I170N probably damaging Het
Mrgpra6 C A 7: 47,188,715 C245F possibly damaging Het
Nipal2 T G 15: 34,600,061 K203N possibly damaging Het
Nlrp1b A G 11: 71,173,085 F621S probably damaging Het
Nos3 G A 5: 24,371,716 V448M probably damaging Het
Ntrk3 G T 7: 78,462,947 probably benign Het
Olfr1474 A T 19: 13,471,197 T76S possibly damaging Het
P2rx1 T C 11: 73,009,973 C190R probably damaging Het
Pdzrn4 T A 15: 92,399,749 D198E probably benign Het
Ptar1 A G 19: 23,687,460 M1V probably null Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Purg T A 8: 33,386,991 L219* probably null Het
Rbp3 G T 14: 33,955,390 V432L possibly damaging Het
Scnn1b G T 7: 121,914,332 probably null Het
Sgms1 A G 19: 32,142,792 V238A possibly damaging Het
Slc16a14 G T 1: 84,912,507 S359* probably null Het
Smarca2 G A 19: 26,683,927 probably null Het
Stra6 T A 9: 58,135,190 V34E probably damaging Het
Tex14 A G 11: 87,538,623 probably null Het
Tox4 T C 14: 52,285,904 probably null Het
Tyr A G 7: 87,437,940 S455P probably benign Het
Uggt2 T C 14: 119,026,433 N1062D possibly damaging Het
Umod A C 7: 119,476,690 N284K possibly damaging Het
Unc93b1 T C 19: 3,943,572 I338T probably damaging Het
Vmn2r99 C T 17: 19,378,570 T172I possibly damaging Het
Whrn G A 4: 63,415,639 Q415* probably null Het
Other mutations in Spatc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Spatc1l APN 10 76569656 splice site probably benign
R0587:Spatc1l UTSW 10 76564177 missense possibly damaging 0.76
R1079:Spatc1l UTSW 10 76563907 missense probably damaging 1.00
R1909:Spatc1l UTSW 10 76563917 missense probably damaging 0.99
R2050:Spatc1l UTSW 10 76564058 missense probably damaging 1.00
R3786:Spatc1l UTSW 10 76563902 missense probably benign 0.00
R4803:Spatc1l UTSW 10 76569372 missense probably damaging 1.00
R6620:Spatc1l UTSW 10 76569922 missense probably damaging 1.00
R6896:Spatc1l UTSW 10 76569408 missense probably damaging 1.00
R7143:Spatc1l UTSW 10 76569931 missense probably damaging 1.00
R7832:Spatc1l UTSW 10 76562390 missense probably benign 0.02
R7915:Spatc1l UTSW 10 76562390 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GGGTAACGACATCACAAGGC -3'
(R):5'- GGCTGTGCTTTGAGACATTAC -3'

Sequencing Primer
(F):5'- TGGAACTCCGTGGCCTTAG -3'
(R):5'- CTGTGCTTTGAGACATTACCAACCAG -3'
Posted On2015-04-29