Incidental Mutation 'R4224:Tssk3'
ID 319953
Institutional Source Beutler Lab
Gene Symbol Tssk3
Ensembl Gene ENSMUSG00000000411
Gene Name testis-specific serine kinase 3
Synonyms 1700014N07Rik, Tssk-3, 4930594I21Rik, Stk22c, Stk22d
MMRRC Submission 041044-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.374) question?
Stock # R4224 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129382807-129384815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129384392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000000421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000421] [ENSMUST00000048162] [ENSMUST00000106043]
AlphaFold Q9D2E1
Predicted Effect probably benign
Transcript: ENSMUST00000000421
AA Change: D3G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000421
Gene: ENSMUSG00000000411
AA Change: D3G

DomainStartEndE-ValueType
S_TKc 10 265 3.46e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000048162
SMART Domains Protein: ENSMUSP00000048742
Gene: ENSMUSG00000040859

DomainStartEndE-ValueType
BSD 146 198 4.61e-18 SMART
low complexity region 217 229 N/A INTRINSIC
low complexity region 261 279 N/A INTRINSIC
low complexity region 289 299 N/A INTRINSIC
low complexity region 325 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106043
SMART Domains Protein: ENSMUSP00000101658
Gene: ENSMUSG00000078554

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
Pfam:UPF0731 56 128 3.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145488
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 95% (42/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182O14Rik T C 15: 40,005,672 (GRCm39) probably null Het
Abl2 A G 1: 156,461,417 (GRCm39) T440A probably damaging Het
Acat2 T C 17: 13,181,772 (GRCm39) probably benign Het
Acsbg1 C T 9: 54,523,325 (GRCm39) R434H possibly damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Atosa T A 9: 74,916,008 (GRCm39) N209K probably damaging Het
Atp6v1a C A 16: 43,922,174 (GRCm39) A355S probably damaging Het
Corin T C 5: 72,500,451 (GRCm39) E391G probably damaging Het
Dnah11 T G 12: 118,094,627 (GRCm39) S814R probably benign Het
Fer1l4 A C 2: 155,862,309 (GRCm39) V1788G probably benign Het
Gm7964 T G 7: 83,406,030 (GRCm39) N281K probably damaging Het
Grin1 T C 2: 25,187,332 (GRCm39) probably benign Het
Ica1 T C 6: 8,659,960 (GRCm39) K112R probably benign Het
Itpr3 T C 17: 27,326,232 (GRCm39) V1334A probably damaging Het
Khdc3 C G 9: 73,010,153 (GRCm39) H70D possibly damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Mettl21a G T 1: 64,647,115 (GRCm39) Y147* probably null Het
Mr1 A T 1: 155,006,465 (GRCm39) I294N possibly damaging Het
Or52z12 A G 7: 103,233,966 (GRCm39) T246A probably damaging Het
Or7e170 T A 9: 19,794,896 (GRCm39) Y235F probably benign Het
Pals1 A G 12: 78,876,492 (GRCm39) K479E probably damaging Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Polr1has T C 17: 37,269,617 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,047 (GRCm39) I125T probably benign Het
Rnf213 C T 11: 119,327,649 (GRCm39) R1879* probably null Het
Slc8a1 A G 17: 81,956,781 (GRCm39) F86L probably damaging Het
Spdya G A 17: 71,869,519 (GRCm39) V105I probably benign Het
Sspo G T 6: 48,428,091 (GRCm39) V313L possibly damaging Het
Stard9 A G 2: 120,495,472 (GRCm39) T116A possibly damaging Het
Tnnt1 T C 7: 4,513,006 (GRCm39) H92R probably damaging Het
Trim37 T A 11: 87,107,289 (GRCm39) C907S probably damaging Het
Trim43b T A 9: 88,972,692 (GRCm39) Q154L probably benign Het
Ubash3a T C 17: 31,456,902 (GRCm39) Y521H probably damaging Het
Vmn1r73 T C 7: 11,490,506 (GRCm39) I108T probably damaging Het
Vmn2r14 A G 5: 109,364,149 (GRCm39) M589T probably benign Het
Vmn2r60 A T 7: 41,765,952 (GRCm39) T20S probably benign Het
Vps13b A G 15: 35,876,565 (GRCm39) T2799A probably damaging Het
Zcchc18 A T X: 135,895,415 (GRCm39) N10I probably damaging Het
Other mutations in Tssk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4115:Tssk3 UTSW 4 129,383,300 (GRCm39) missense probably damaging 1.00
R4320:Tssk3 UTSW 4 129,382,994 (GRCm39) missense possibly damaging 0.48
R4579:Tssk3 UTSW 4 129,383,110 (GRCm39) missense probably benign 0.01
R5522:Tssk3 UTSW 4 129,383,343 (GRCm39) missense possibly damaging 0.94
R6263:Tssk3 UTSW 4 129,383,051 (GRCm39) missense probably benign 0.05
R7216:Tssk3 UTSW 4 129,383,106 (GRCm39) frame shift probably null
R8492:Tssk3 UTSW 4 129,383,445 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCCATCCTGACTCAAAGGG -3'
(R):5'- CAGCATTTACATCACAATTGGGC -3'

Sequencing Primer
(F):5'- TCTGAGGAAAGGGCCTACC -3'
(R):5'- GCAGGAGTTTAAAAATGTCTGGTCC -3'
Posted On 2015-06-12