Incidental Mutation 'IGL03065:Tsks'
ID409659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsks
Ensembl Gene ENSMUSG00000059891
Gene Nametestis-specific serine kinase substrate
SynonymsTssks1, Stk22s1, Tsks, clone 4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03065
Quality Score
Status
Chromosome7
Chromosomal Location44943204-44958035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44943300 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 6 (V6A)
Ref Sequence ENSEMBL: ENSMUSP00000112673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080233] [ENSMUST00000120929] [ENSMUST00000207719]
Predicted Effect probably damaging
Transcript: ENSMUST00000080233
AA Change: V6A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891
AA Change: V6A

DomainStartEndE-ValueType
Pfam:TSKS 26 525 5.7e-281 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120929
AA Change: V6A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891
AA Change: V6A

DomainStartEndE-ValueType
Pfam:TSKS 26 585 8.1e-297 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207719
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of a small family of testis-specific serine/threonine kinases. This gene may play a role in testicular physiology or spermiogenesis. Its expression is restricted to the testis during the last stages of spermatid maturation. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 83,938,514 M1322V possibly damaging Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Als2 T C 1: 59,215,872 S109G probably benign Het
Bpifa1 T A 2: 154,147,642 N250K probably damaging Het
Capn9 A C 8: 124,605,559 Y423S probably damaging Het
Cd200r1 T G 16: 44,794,282 V308G probably benign Het
Cic T C 7: 25,285,821 probably benign Het
Col5a1 T A 2: 28,032,745 I275N possibly damaging Het
Col6a4 C A 9: 106,041,164 probably benign Het
Cpeb1 T C 7: 81,436,290 R35G probably benign Het
Cul1 A G 6: 47,495,081 Y52C probably damaging Het
Dctn1 T C 6: 83,192,493 F496L probably damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Eaf2 C T 16: 36,828,122 R12H probably benign Het
Gcc1 T A 6: 28,418,402 Q644L possibly damaging Het
Gm44865 C T 7: 108,565,797 probably benign Het
Gm6614 C A 6: 141,992,502 L230F probably damaging Het
Golgb1 C T 16: 36,912,866 S825L probably benign Het
Gstp3 C T 19: 4,058,730 probably null Het
Heph T A X: 96,527,567 I669N probably benign Het
Il12rb1 A T 8: 70,820,558 Y635F possibly damaging Het
Ing3 G A 6: 21,971,222 A331T probably benign Het
Ipo8 T A 6: 148,784,707 I762F probably benign Het
Itpr3 G A 17: 27,091,933 R510Q probably damaging Het
Kif16b A G 2: 142,619,913 Y1273H probably damaging Het
Map3k14 T C 11: 103,225,101 E784G probably damaging Het
Mpdz A T 4: 81,292,565 N1694K probably damaging Het
Myh13 T C 11: 67,344,853 F648S probably damaging Het
Myh4 A G 11: 67,259,156 H1847R probably benign Het
Ncoa7 T A 10: 30,647,997 D840V probably damaging Het
Nxpe2 T A 9: 48,319,692 N459I possibly damaging Het
Olfr1297 T C 2: 111,621,190 K295E probably damaging Het
Olfr1426 C A 19: 12,088,611 L60F possibly damaging Het
Olfr730 C A 14: 50,187,008 D70Y probably damaging Het
Ovgp1 T C 3: 105,986,366 F485S probably benign Het
Parp4 G T 14: 56,637,869 A1182S probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pla2g15 G A 8: 106,160,219 R114H probably benign Het
Plppr3 T A 10: 79,866,046 T321S probably benign Het
Rnf113a1 A G X: 37,192,095 D235G probably benign Het
Rsrp1 A G 4: 134,924,389 T155A possibly damaging Het
Simc1 G T 13: 54,537,212 C87F probably damaging Het
Slco1a5 A G 6: 142,248,843 probably benign Het
Smyd5 A G 6: 85,442,164 D276G possibly damaging Het
Spata5 T C 3: 37,432,179 V350A possibly damaging Het
Tmem132c A G 5: 127,563,624 Y953C probably damaging Het
Trank1 T A 9: 111,390,293 S2033T possibly damaging Het
Trim69 A G 2: 122,178,634 T392A probably damaging Het
Yjefn3 A G 8: 69,889,556 probably benign Het
Zfp263 T G 16: 3,746,480 D211E probably benign Het
Zfp994 A T 17: 22,202,680 F51L probably damaging Het
Znfx1 A T 2: 167,055,765 M413K probably benign Het
Other mutations in Tsks
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Tsks APN 7 44952558 missense probably damaging 1.00
IGL03006:Tsks APN 7 44950774 unclassified probably benign
IGL03091:Tsks APN 7 44957895 missense possibly damaging 0.54
R0139:Tsks UTSW 7 44954459 missense probably benign
R0619:Tsks UTSW 7 44950834 missense probably damaging 1.00
R3709:Tsks UTSW 7 44951885 missense possibly damaging 0.62
R4273:Tsks UTSW 7 44957929 missense probably damaging 1.00
R4982:Tsks UTSW 7 44943994 missense possibly damaging 0.69
R5664:Tsks UTSW 7 44953784 missense probably damaging 1.00
R5846:Tsks UTSW 7 44943988 missense probably damaging 1.00
R6193:Tsks UTSW 7 44953839 missense probably damaging 0.96
R6567:Tsks UTSW 7 44953881 missense probably damaging 1.00
R7044:Tsks UTSW 7 44943792 missense probably damaging 0.99
R7255:Tsks UTSW 7 44952688 missense probably benign 0.13
R7845:Tsks UTSW 7 44953744 splice site probably null
R8073:Tsks UTSW 7 44957881 missense probably benign
R8162:Tsks UTSW 7 44953872 missense probably damaging 1.00
R8307:Tsks UTSW 7 44957662 missense
R8340:Tsks UTSW 7 44952720 missense probably damaging 1.00
Posted On2016-08-02