Incidental Mutation 'R1649:Tssk5'
ID174129
Institutional Source Beutler Lab
Gene Symbol Tssk5
Ensembl Gene ENSMUSG00000060794
Gene Nametestis-specific serine kinase 5
Synonyms
MMRRC Submission 039685-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1649 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location76371952-76374938 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76373803 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 118 (Y118C)
Ref Sequence ENSEMBL: ENSMUSP00000071120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023213] [ENSMUST00000071119]
Predicted Effect probably benign
Transcript: ENSMUST00000023213
SMART Domains Protein: ENSMUSP00000023213
Gene: ENSMUSG00000022554

DomainStartEndE-ValueType
low complexity region 35 56 N/A INTRINSIC
low complexity region 69 91 N/A INTRINSIC
Pfam:DUF383 119 294 4e-57 PFAM
Pfam:DUF384 299 353 6.2e-22 PFAM
low complexity region 357 385 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000071119
AA Change: Y118C

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071120
Gene: ENSMUSG00000060794
AA Change: Y118C

DomainStartEndE-ValueType
S_TKc 27 302 1.23e-82 SMART
low complexity region 341 358 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230436
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 88.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik A G 8: 3,389,094 probably benign Het
Akr1a1 T A 4: 116,638,020 I261F probably damaging Het
Aldh1l1 T C 6: 90,564,389 V255A probably benign Het
Ambn T A 5: 88,464,481 M172K probably benign Het
BC034090 T C 1: 155,225,573 H315R possibly damaging Het
Btaf1 T A 19: 36,981,722 D707E probably benign Het
C6 T C 15: 4,735,257 L145P possibly damaging Het
Cav3 T A 6: 112,472,246 L75Q probably damaging Het
Cavin2 T A 1: 51,300,780 D205E probably benign Het
Cdadc1 T C 14: 59,573,793 T423A probably damaging Het
Cep120 A T 18: 53,724,576 H272Q probably damaging Het
Chd9 A T 8: 90,932,601 Q63L possibly damaging Het
Clspn T C 4: 126,566,435 probably benign Het
Cramp1l G T 17: 24,983,243 H422N probably damaging Het
Csn1s2b A T 5: 87,819,084 M71L probably benign Het
D630045J12Rik C A 6: 38,181,431 A1104S probably damaging Het
D930048N14Rik A G 11: 51,654,836 probably benign Het
Ern2 G A 7: 122,177,400 P366S probably damaging Het
Gm1527 T C 3: 28,898,731 I60T probably damaging Het
Gse1 T C 8: 120,578,515 probably benign Het
Ildr1 T C 16: 36,708,319 L42P probably damaging Het
Itih2 G A 2: 10,105,735 T515I probably benign Het
Jcad C A 18: 4,673,309 P357Q probably damaging Het
Kitl A G 10: 100,064,114 T94A probably benign Het
Klri1 C T 6: 129,698,241 M185I probably benign Het
Lsamp A T 16: 41,955,298 M171L probably benign Het
Macf1 T G 4: 123,484,053 I1460L probably damaging Het
Map1b C G 13: 99,516,478 V4L probably benign Het
Mboat7 A T 7: 3,685,818 V237D probably benign Het
Mctp2 A T 7: 72,161,258 I656K probably damaging Het
Ms4a6b A G 19: 11,520,442 D35G possibly damaging Het
Nipsnap2 T A 5: 129,753,237 I205N probably damaging Het
Nsd2 T C 5: 33,854,640 V264A probably damaging Het
Oacyl C T 18: 65,750,096 T582I probably damaging Het
Olfm1 A T 2: 28,229,267 T333S possibly damaging Het
Olfm4 G A 14: 80,011,982 E180K probably damaging Het
Olfr127 T C 17: 37,904,169 F208L probably benign Het
Olfr1368 A T 13: 21,142,742 L105Q probably damaging Het
Olfr146 T G 9: 39,019,480 Q20H probably benign Het
Parp4 T A 14: 56,590,428 V212E possibly damaging Het
Pcdhb21 T A 18: 37,515,613 N598K probably damaging Het
Piezo2 C A 18: 63,117,672 W452L probably benign Het
Plec C A 15: 76,205,811 A110S possibly damaging Het
Popdc3 T C 10: 45,315,224 Y144H probably damaging Het
Ptgdr T C 14: 44,858,502 H251R probably benign Het
Ptpro T A 6: 137,444,017 Y246* probably null Het
Pyroxd2 T C 19: 42,738,134 D247G probably damaging Het
Robo2 T C 16: 73,899,001 E1418G probably benign Het
Rtp3 T C 9: 110,986,704 T198A probably benign Het
Sec16a A T 2: 26,425,524 V1767D probably damaging Het
Sept14 T C 5: 129,697,755 N119D probably benign Het
Serpina5 A T 12: 104,105,225 T364S possibly damaging Het
Setd2 A G 9: 110,549,864 S632G probably benign Het
Sh3bp2 C T 5: 34,559,004 A253V possibly damaging Het
Slc6a5 G T 7: 49,936,262 G443C probably damaging Het
Spag9 T A 11: 94,108,452 probably null Het
Sptbn1 T C 11: 30,137,301 E1033G probably damaging Het
Timm17a T G 1: 135,309,802 Q39P probably damaging Het
Tmem26 A T 10: 68,751,273 T184S probably damaging Het
Tpi1 A T 6: 124,812,928 probably null Het
Ttll4 T A 1: 74,697,470 L1118Q possibly damaging Het
Ttll5 T A 12: 85,923,014 L691Q probably damaging Het
Vmn1r49 A T 6: 90,072,641 H126Q possibly damaging Het
Zfp518b A T 5: 38,671,881 V927E probably damaging Het
Zfp618 T C 4: 63,095,537 F213S probably damaging Het
Zfp759 T A 13: 67,139,604 N406K probably benign Het
Other mutations in Tssk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1447:Tssk5 UTSW 15 76372104 nonsense probably null
R1543:Tssk5 UTSW 15 76372209 missense probably benign 0.01
R1907:Tssk5 UTSW 15 76372893 missense probably benign 0.01
R2391:Tssk5 UTSW 15 76374551 missense probably benign 0.00
R3729:Tssk5 UTSW 15 76372896 missense probably benign 0.00
R4453:Tssk5 UTSW 15 76374543 missense probably benign
R4497:Tssk5 UTSW 15 76372211 missense probably damaging 0.99
R4576:Tssk5 UTSW 15 76372468 missense probably benign 0.06
R4621:Tssk5 UTSW 15 76372468 missense probably benign 0.06
R4623:Tssk5 UTSW 15 76372468 missense probably benign 0.06
R4967:Tssk5 UTSW 15 76374656 missense possibly damaging 0.94
R6109:Tssk5 UTSW 15 76373716 missense probably damaging 1.00
R6220:Tssk5 UTSW 15 76373773 missense probably damaging 1.00
R6951:Tssk5 UTSW 15 76372896 missense possibly damaging 0.70
R7012:Tssk5 UTSW 15 76373545 missense probably damaging 1.00
R7366:Tssk5 UTSW 15 76374513 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGATAGGCCAGATGGCACTCTCAC -3'
(R):5'- GTAAGACGGTCCTTACCATGCCAG -3'

Sequencing Primer
(F):5'- AGATGGCACTCTCACCTGTG -3'
(R):5'- GCGCTCTACCCCATTGC -3'
Posted On2014-04-24