Incidental Mutation 'R0866:Tspyl3'
ID82336
Institutional Source Beutler Lab
Gene Symbol Tspyl3
Ensembl Gene ENSMUSG00000074671
Gene NameTSPY-like 3
SynonymsLOC241732
MMRRC Submission 039040-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #R0866 (G1)
Quality Score223
Status Validated
Chromosome2
Chromosomal Location153222370-153225441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 153224934 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 128 (L128Q)
Ref Sequence ENSEMBL: ENSMUSP00000096799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056924] [ENSMUST00000099194] [ENSMUST00000109795]
Predicted Effect probably benign
Transcript: ENSMUST00000056924
SMART Domains Protein: ENSMUSP00000055709
Gene: ENSMUSG00000051413

DomainStartEndE-ValueType
ZnF_C2H2 68 92 5.99e-4 SMART
ZnF_C2H2 98 120 1.03e-2 SMART
ZnF_C2H2 127 149 1.36e-2 SMART
ZnF_C2H2 156 178 6.23e-2 SMART
ZnF_C2H2 191 213 1.26e-2 SMART
ZnF_C2H2 219 242 3.11e-2 SMART
low complexity region 324 340 N/A INTRINSIC
low complexity region 369 397 N/A INTRINSIC
low complexity region 417 432 N/A INTRINSIC
low complexity region 443 458 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099194
AA Change: L128Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096799
Gene: ENSMUSG00000074671
AA Change: L128Q

DomainStartEndE-ValueType
low complexity region 41 52 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
Pfam:NAP 160 307 2.9e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109795
SMART Domains Protein: ENSMUSP00000105419
Gene: ENSMUSG00000051413

DomainStartEndE-ValueType
ZnF_C2H2 68 92 5.99e-4 SMART
ZnF_C2H2 98 120 1.03e-2 SMART
ZnF_C2H2 127 149 1.36e-2 SMART
ZnF_C2H2 156 178 6.23e-2 SMART
ZnF_C2H2 191 213 1.26e-2 SMART
ZnF_C2H2 219 242 3.11e-2 SMART
low complexity region 324 340 N/A INTRINSIC
low complexity region 369 397 N/A INTRINSIC
low complexity region 417 432 N/A INTRINSIC
low complexity region 443 458 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik G T 6: 131,552,779 R112L unknown Het
Abcd4 G T 12: 84,611,733 A232E probably damaging Het
Acsm5 T A 7: 119,540,900 I508N probably damaging Het
Adam22 T C 5: 8,082,156 Q263R probably damaging Het
Ccdc88c A G 12: 100,913,192 L1890P probably benign Het
Ckap4 C T 10: 84,527,520 D560N probably damaging Het
Crb3 T A 17: 57,062,743 L17Q probably damaging Het
Fbxo21 G T 5: 117,977,033 R78L probably benign Het
Gapvd1 A T 2: 34,709,217 C669S probably damaging Het
Gria2 A T 3: 80,722,024 probably benign Het
H2-M11 T C 17: 36,548,937 L274P probably benign Het
Hmox1 A G 8: 75,097,303 T200A probably benign Het
Hspa8 G A 9: 40,802,624 probably null Het
Isy1 C A 6: 87,819,112 R281L probably benign Het
Kiz C A 2: 146,856,053 probably benign Het
Lrig2 T C 3: 104,464,275 K704R probably benign Het
Lrp1 A T 10: 127,539,278 D4484E probably damaging Het
Lrrc7 C A 3: 158,164,266 probably benign Het
Mtmr14 T C 6: 113,239,582 probably null Het
Mtmr3 A T 11: 4,488,474 V660E probably benign Het
Mtor T C 4: 148,486,056 I1190T probably benign Het
Mtrf1l T C 10: 5,813,376 R318G probably damaging Het
Myh7 T C 14: 54,973,139 T1739A probably benign Het
Ofcc1 C T 13: 40,208,829 G206R probably benign Het
Olfr186 C T 16: 59,027,428 V160I probably benign Het
Pcca A G 14: 122,889,545 E722G possibly damaging Het
Pds5b T A 5: 150,739,191 probably benign Het
Ralgapa2 A T 2: 146,436,003 F413I probably damaging Het
Rbbp9 T C 2: 144,550,708 Y24C probably damaging Het
Rgs2 A G 1: 144,002,250 S103P probably damaging Het
Rtn1 G T 12: 72,308,382 Y263* probably null Het
Slc22a1 T C 17: 12,657,046 E427G probably benign Het
Speg A G 1: 75,417,083 T1695A probably damaging Het
Tlx3 C A 11: 33,203,315 G49W probably damaging Het
Tor1b A G 2: 30,956,916 M292V probably benign Het
Zbtb14 C A 17: 69,388,502 F398L probably damaging Het
Zfc3h1 G A 10: 115,427,716 V1821I probably benign Het
Zfhx4 A T 3: 5,412,212 T3271S possibly damaging Het
Zfp386 G T 12: 116,054,709 probably benign Het
Zfp574 A T 7: 25,079,898 K115M probably damaging Het
Other mutations in Tspyl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
F5770:Tspyl3 UTSW 2 153225060 missense probably benign 0.07
R0035:Tspyl3 UTSW 2 153224320 missense probably damaging 1.00
R1780:Tspyl3 UTSW 2 153225256 missense probably damaging 0.97
R1930:Tspyl3 UTSW 2 153224797 missense probably damaging 1.00
R3015:Tspyl3 UTSW 2 153224730 missense probably damaging 1.00
R4296:Tspyl3 UTSW 2 153225156 missense possibly damaging 0.96
R5913:Tspyl3 UTSW 2 153224716 missense probably benign 0.17
R6933:Tspyl3 UTSW 2 153225283 missense probably benign
V7580:Tspyl3 UTSW 2 153225060 missense probably benign 0.07
V7581:Tspyl3 UTSW 2 153225060 missense probably benign 0.07
V7583:Tspyl3 UTSW 2 153225060 missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TGCGAGTAGCAATGGACACCAC -3'
(R):5'- GCCTTCCTCAGAAAACACTGGAGAG -3'

Sequencing Primer
(F):5'- AGGTAGCCAAGCATGTCTTC -3'
(R):5'- ACTGGAGAGAACTCTGCCTC -3'
Posted On2013-11-08