Incidental Mutation 'IGL00772:Mak'
ID 13599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mak
Ensembl Gene ENSMUSG00000021363
Gene Name male germ cell-associated kinase
Synonyms A930010O05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # IGL00772
Quality Score
Status
Chromosome 13
Chromosomal Location 41178484-41233182 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 41209296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021792] [ENSMUST00000070193] [ENSMUST00000165087] [ENSMUST00000224423] [ENSMUST00000224740] [ENSMUST00000225084]
AlphaFold Q04859
Predicted Effect probably benign
Transcript: ENSMUST00000021792
SMART Domains Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363

DomainStartEndE-ValueType
S_TKc 4 284 5.24e-100 SMART
low complexity region 356 369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070193
SMART Domains Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363

DomainStartEndE-ValueType
S_TKc 4 253 3.81e-70 SMART
low complexity region 325 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165087
SMART Domains Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363

DomainStartEndE-ValueType
S_TKc 4 284 5.24e-100 SMART
low complexity region 356 369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224423
Predicted Effect probably benign
Transcript: ENSMUST00000224740
Predicted Effect probably benign
Transcript: ENSMUST00000225084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225789
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Males homozygous for a targeted null mutation exhibit slight reductions in litter size and sperm motility in vitro. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A T 1: 59,209,055 (GRCm39) C1501* probably null Het
Ap3b2 T C 7: 81,121,697 (GRCm39) E513G probably damaging Het
Cdh19 T C 1: 110,876,982 (GRCm39) D119G probably damaging Het
Clasp2 A G 9: 113,735,060 (GRCm39) probably benign Het
Cobl A G 11: 12,216,985 (GRCm39) M419T probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Ctu2 T C 8: 123,203,977 (GRCm39) probably benign Het
Dnah2 A C 11: 69,342,083 (GRCm39) Y2968D probably damaging Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Folh1 A G 7: 86,380,992 (GRCm39) S494P probably damaging Het
Fras1 T A 5: 96,783,971 (GRCm39) I825N probably benign Het
Grk1 A G 8: 13,455,349 (GRCm39) T78A probably benign Het
Lipi A T 16: 75,347,254 (GRCm39) probably benign Het
Prkd1 T C 12: 50,430,199 (GRCm39) E636G probably damaging Het
Psmd1 T C 1: 86,017,920 (GRCm39) probably benign Het
Scara5 G A 14: 65,908,011 (GRCm39) probably benign Het
Skint8 A G 4: 111,796,120 (GRCm39) I265V probably benign Het
Slc48a1 A G 15: 97,687,835 (GRCm39) Y63C probably damaging Het
Slc4a2 G T 5: 24,640,194 (GRCm39) V598L probably damaging Het
Smo A T 6: 29,758,893 (GRCm39) K565* probably null Het
Spink5 A G 18: 44,139,487 (GRCm39) I617V probably benign Het
Tmed11 T C 5: 108,934,031 (GRCm39) D55G probably benign Het
Tro A G X: 149,438,321 (GRCm39) V112A probably benign Het
Utrn G A 10: 12,524,929 (GRCm39) R2185C probably benign Het
Other mutations in Mak
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Mak APN 13 41,209,165 (GRCm39) splice site probably benign
IGL00543:Mak APN 13 41,209,189 (GRCm39) missense probably damaging 1.00
IGL01113:Mak APN 13 41,195,619 (GRCm39) missense probably damaging 1.00
IGL01363:Mak APN 13 41,206,853 (GRCm39) splice site probably benign
IGL01673:Mak APN 13 41,201,699 (GRCm39) splice site probably null
IGL01872:Mak APN 13 41,210,131 (GRCm39) missense probably damaging 1.00
IGL02051:Mak APN 13 41,195,558 (GRCm39) missense probably benign 0.00
R0126:Mak UTSW 13 41,186,072 (GRCm39) missense probably damaging 1.00
R0377:Mak UTSW 13 41,202,824 (GRCm39) missense probably damaging 1.00
R0511:Mak UTSW 13 41,199,743 (GRCm39) missense probably benign
R0557:Mak UTSW 13 41,193,135 (GRCm39) missense probably benign 0.11
R0616:Mak UTSW 13 41,195,661 (GRCm39) missense probably benign 0.05
R0786:Mak UTSW 13 41,199,545 (GRCm39) missense probably benign 0.00
R0855:Mak UTSW 13 41,223,640 (GRCm39) missense probably damaging 1.00
R1430:Mak UTSW 13 41,223,760 (GRCm39) start gained probably benign
R1603:Mak UTSW 13 41,195,582 (GRCm39) missense possibly damaging 0.69
R1759:Mak UTSW 13 41,210,110 (GRCm39) missense probably damaging 0.98
R2042:Mak UTSW 13 41,202,912 (GRCm39) missense possibly damaging 0.60
R2148:Mak UTSW 13 41,195,513 (GRCm39) missense probably benign 0.01
R2155:Mak UTSW 13 41,186,020 (GRCm39) missense probably benign 0.00
R4124:Mak UTSW 13 41,210,106 (GRCm39) missense probably benign 0.00
R5040:Mak UTSW 13 41,183,574 (GRCm39) missense possibly damaging 0.61
R5141:Mak UTSW 13 41,186,039 (GRCm39) missense possibly damaging 0.94
R6167:Mak UTSW 13 41,206,828 (GRCm39) missense probably benign 0.07
R6937:Mak UTSW 13 41,201,578 (GRCm39) missense probably damaging 1.00
R6964:Mak UTSW 13 41,186,067 (GRCm39) missense probably benign 0.00
R7201:Mak UTSW 13 41,204,916 (GRCm39) missense possibly damaging 0.94
R7474:Mak UTSW 13 41,204,956 (GRCm39) missense probably damaging 1.00
R7644:Mak UTSW 13 41,183,586 (GRCm39) missense probably benign 0.01
R8057:Mak UTSW 13 41,202,813 (GRCm39) missense probably damaging 1.00
R8247:Mak UTSW 13 41,193,146 (GRCm39) missense possibly damaging 0.76
R8344:Mak UTSW 13 41,199,679 (GRCm39) missense probably benign 0.31
R9144:Mak UTSW 13 41,201,594 (GRCm39) nonsense probably null
R9324:Mak UTSW 13 41,202,839 (GRCm39) missense probably benign 0.21
R9553:Mak UTSW 13 41,183,595 (GRCm39) missense probably benign
R9755:Mak UTSW 13 41,199,623 (GRCm39) missense probably benign 0.01
R9784:Mak UTSW 13 41,202,836 (GRCm39) missense possibly damaging 0.94
X0024:Mak UTSW 13 41,204,845 (GRCm39) critical splice donor site probably null
Posted On 2012-12-06