Incidental Mutation 'IGL02747:Tesk2'
ID 306075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tesk2
Ensembl Gene ENSMUSG00000033985
Gene Name testis-specific kinase 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL02747
Quality Score
Status
Chromosome 4
Chromosomal Location 116578107-116661450 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116660076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 398 (V398A)
Ref Sequence ENSEMBL: ENSMUSP00000102064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030451] [ENSMUST00000045542] [ENSMUST00000102699] [ENSMUST00000106455] [ENSMUST00000106456] [ENSMUST00000106459] [ENSMUST00000145468] [ENSMUST00000130359]
AlphaFold Q8VCT9
Predicted Effect probably benign
Transcript: ENSMUST00000030451
SMART Domains Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:CAF1 39 171 3.1e-46 PFAM
Pfam:CAF1 164 452 9.9e-40 PFAM
Pfam:zf-CCCH 297 322 2.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045542
AA Change: V427A

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
AA Change: V427A

DomainStartEndE-ValueType
low complexity region 24 30 N/A INTRINSIC
Pfam:Pkinase 59 309 1.6e-48 PFAM
Pfam:Pkinase_Tyr 59 309 1.2e-50 PFAM
low complexity region 539 546 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102699
SMART Domains Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687

DomainStartEndE-ValueType
ENDO3c 107 259 1.46e-52 SMART
FES 260 280 2.16e-5 SMART
Pfam:NUDIX_4 353 463 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106455
SMART Domains Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:CAF1 37 301 2.1e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106456
AA Change: V398A

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
AA Change: V398A

DomainStartEndE-ValueType
low complexity region 24 30 N/A INTRINSIC
Pfam:Pkinase_Tyr 59 291 4.5e-46 PFAM
Pfam:Pkinase 60 332 3.6e-46 PFAM
low complexity region 510 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106459
SMART Domains Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985

DomainStartEndE-ValueType
low complexity region 24 30 N/A INTRINSIC
Pfam:Pkinase_Tyr 59 238 6.1e-37 PFAM
Pfam:Pkinase 60 239 4.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149895
Predicted Effect probably benign
Transcript: ENSMUST00000145468
SMART Domains Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688

DomainStartEndE-ValueType
Pfam:CAF1 1 184 2.2e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130359
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,282 (GRCm39) L3373* probably null Het
Ap1s3 T C 1: 79,601,409 (GRCm39) Y94C probably damaging Het
Dbx2 T C 15: 95,530,320 (GRCm39) T216A probably benign Het
Dsg4 A G 18: 20,579,995 (GRCm39) R67G probably damaging Het
Eng G A 2: 32,562,970 (GRCm39) probably null Het
Gm28042 T A 2: 119,861,875 (GRCm39) I206N probably damaging Het
Gsdmc4 C T 15: 63,765,720 (GRCm39) M276I probably benign Het
Itih2 A G 2: 10,102,756 (GRCm39) S793P probably benign Het
Kcnj13 T C 1: 87,317,087 (GRCm39) N9D probably benign Het
Kics2 A C 10: 121,581,455 (GRCm39) Q152P possibly damaging Het
Krt78 T A 15: 101,858,819 (GRCm39) probably benign Het
Megf10 A G 18: 57,423,565 (GRCm39) K985E probably benign Het
Naa25 A G 5: 121,552,668 (GRCm39) probably benign Het
Or8b3b T C 9: 38,584,380 (GRCm39) Y133C probably benign Het
Plekhm2 T C 4: 141,361,583 (GRCm39) T307A possibly damaging Het
Ppp1cc A G 5: 122,312,136 (GRCm39) K301E probably benign Het
Ralgds T C 2: 28,438,122 (GRCm39) probably benign Het
Rccd1 A T 7: 79,970,238 (GRCm39) D126E probably benign Het
Reps1 T C 10: 17,999,348 (GRCm39) S712P probably damaging Het
Rnf103 T A 6: 71,486,161 (GRCm39) I264N probably damaging Het
Rpap1 A G 2: 119,604,609 (GRCm39) I433T probably damaging Het
Ryr2 T G 13: 11,670,563 (GRCm39) N3478H probably damaging Het
Sox30 A G 11: 45,871,772 (GRCm39) D209G probably benign Het
Sox6 A G 7: 115,088,981 (GRCm39) F628S probably damaging Het
Tas1r3 C T 4: 155,944,917 (GRCm39) G768D possibly damaging Het
Tmem135 A T 7: 88,793,878 (GRCm39) I388N probably damaging Het
Tpgs2 A G 18: 25,272,202 (GRCm39) probably benign Het
Vmn2r120 G A 17: 57,831,719 (GRCm39) H357Y probably benign Het
Other mutations in Tesk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Tesk2 APN 4 116,628,998 (GRCm39) missense possibly damaging 0.68
IGL02051:Tesk2 APN 4 116,608,381 (GRCm39) missense probably damaging 1.00
IGL02223:Tesk2 APN 4 116,599,022 (GRCm39) nonsense probably null
IGL02942:Tesk2 APN 4 116,629,017 (GRCm39) missense probably damaging 0.99
BB006:Tesk2 UTSW 4 116,659,452 (GRCm39) missense probably benign 0.08
BB016:Tesk2 UTSW 4 116,659,452 (GRCm39) missense probably benign 0.08
R1804:Tesk2 UTSW 4 116,657,818 (GRCm39) unclassified probably benign
R1936:Tesk2 UTSW 4 116,599,021 (GRCm39) missense probably benign 0.23
R1986:Tesk2 UTSW 4 116,608,390 (GRCm39) missense probably damaging 1.00
R2414:Tesk2 UTSW 4 116,658,954 (GRCm39) missense possibly damaging 0.96
R4632:Tesk2 UTSW 4 116,598,909 (GRCm39) missense probably benign 0.01
R4896:Tesk2 UTSW 4 116,660,190 (GRCm39) missense probably benign
R5186:Tesk2 UTSW 4 116,599,093 (GRCm39) missense probably damaging 1.00
R5209:Tesk2 UTSW 4 116,581,895 (GRCm39) start gained probably benign
R5278:Tesk2 UTSW 4 116,663,133 (GRCm39) intron probably benign
R5769:Tesk2 UTSW 4 116,659,512 (GRCm39) splice site probably null
R6199:Tesk2 UTSW 4 116,649,367 (GRCm39) missense probably damaging 0.98
R6464:Tesk2 UTSW 4 116,660,046 (GRCm39) missense probably damaging 1.00
R6567:Tesk2 UTSW 4 116,649,361 (GRCm39) missense probably damaging 1.00
R6867:Tesk2 UTSW 4 116,658,995 (GRCm39) missense probably damaging 0.99
R7028:Tesk2 UTSW 4 116,659,884 (GRCm39) nonsense probably null
R7929:Tesk2 UTSW 4 116,659,452 (GRCm39) missense probably benign 0.08
R8830:Tesk2 UTSW 4 116,659,484 (GRCm39) missense probably benign 0.00
R8957:Tesk2 UTSW 4 116,659,910 (GRCm39) missense probably benign 0.10
R9043:Tesk2 UTSW 4 116,660,148 (GRCm39) missense probably benign 0.20
R9074:Tesk2 UTSW 4 116,658,933 (GRCm39) missense probably damaging 1.00
R9464:Tesk2 UTSW 4 116,658,443 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16