Incidental Mutation 'R6937:Mak'
ID 540356
Institutional Source Beutler Lab
Gene Symbol Mak
Ensembl Gene ENSMUSG00000021363
Gene Name male germ cell-associated kinase
Synonyms A930010O05Rik
MMRRC Submission 045051-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # R6937 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 41178484-41233182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41201578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 261 (M261K)
Ref Sequence ENSEMBL: ENSMUSP00000152946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021792] [ENSMUST00000070193] [ENSMUST00000165087] [ENSMUST00000224423] [ENSMUST00000224740] [ENSMUST00000225084]
AlphaFold Q04859
Predicted Effect probably damaging
Transcript: ENSMUST00000021792
AA Change: M261K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: M261K

DomainStartEndE-ValueType
S_TKc 4 284 5.24e-100 SMART
low complexity region 356 369 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070193
AA Change: M230K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: M230K

DomainStartEndE-ValueType
S_TKc 4 253 3.81e-70 SMART
low complexity region 325 338 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165087
AA Change: M261K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: M261K

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 damaging
Transcript: ENSMUST00000224740
AA Change: M261K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225084
AA Change: M261K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency 98% (42/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd52 T C 10: 128,222,889 (GRCm39) V613A probably benign Het
Cdh23 A T 10: 60,322,893 (GRCm39) L337Q probably damaging Het
Chrna6 A G 8: 27,897,055 (GRCm39) L274P probably damaging Het
Ciita G A 16: 10,330,355 (GRCm39) probably null Het
Csnka2ip A T 16: 64,299,058 (GRCm39) probably benign Het
Ddx60 G A 8: 62,490,103 (GRCm39) D1691N probably damaging Het
Dnah7b T C 1: 46,234,280 (GRCm39) I1441T probably damaging Het
Dock4 T C 12: 40,884,634 (GRCm39) S1713P probably benign Het
Ep400 T C 5: 110,859,018 (GRCm39) probably benign Het
Epn1 T C 7: 5,092,943 (GRCm39) I85T probably damaging Het
Eri2 T C 7: 119,386,012 (GRCm39) K228E probably damaging Het
Garem1 C T 18: 21,280,827 (GRCm39) A510T probably benign Het
Gfm2 T A 13: 97,299,572 (GRCm39) probably null Het
Hnrnpd T C 5: 100,111,629 (GRCm39) T321A probably benign Het
Htr2a A T 14: 74,882,604 (GRCm39) I197F probably damaging Het
Krtap2-4 T A 11: 99,505,299 (GRCm39) probably benign Het
Lcn3 C A 2: 25,657,823 (GRCm39) Y179* probably null Het
Marchf7 A G 2: 60,071,310 (GRCm39) T605A probably damaging Het
Mcm4 A C 16: 15,454,199 (GRCm39) F83V probably benign Het
Myo18b T C 5: 112,950,258 (GRCm39) N1546S probably benign Het
Nckap1 T A 2: 80,339,060 (GRCm39) K989N probably damaging Het
Ndufaf5 A G 2: 140,023,522 (GRCm39) D119G probably damaging Het
Or7g28 A T 9: 19,271,985 (GRCm39) V222D probably damaging Het
Pcdh1 T C 18: 38,336,528 (GRCm39) T36A possibly damaging Het
Pitpna C T 11: 75,494,557 (GRCm39) T100I possibly damaging Het
Pmf1 A T 3: 88,306,496 (GRCm39) L102Q probably damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Robo3 A G 9: 37,341,176 (GRCm39) L10P probably benign Het
Serpinb6a T C 13: 34,102,801 (GRCm39) I241V possibly damaging Het
St14 A T 9: 31,040,956 (GRCm39) probably null Het
Stat6 T C 10: 127,494,571 (GRCm39) probably null Het
Tdpoz6 T C 3: 93,599,523 (GRCm39) N282S probably benign Het
Tdpoz8 A G 3: 92,981,417 (GRCm39) H145R probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tgfbrap1 A T 1: 43,091,064 (GRCm39) V687E probably damaging Het
Trim30d A T 7: 104,132,634 (GRCm39) S68T probably damaging Het
Ttn A G 2: 76,663,253 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,292,158 (GRCm39) D97V probably benign Het
Ugt8a G A 3: 125,709,250 (GRCm39) probably benign Het
Vmn1r184 A T 7: 25,966,750 (GRCm39) K165N probably benign Het
Vmn2r86 T A 10: 130,284,523 (GRCm39) I523F probably damaging Het
Wapl G A 14: 34,444,311 (GRCm39) V588I probably benign Het
Wdr7 C T 18: 63,924,938 (GRCm39) P974S probably benign Het
Zfp975 T C 7: 42,314,480 (GRCm39) D31G possibly damaging 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
IGL00772:Mak APN 13 41,209,296 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GGCTTAGCACTTACTGATCTTGG -3'
(R):5'- CCACATGAATCTGTGTCATTCC -3'

Sequencing Primer
(F):5'- GGGATCTGATGCCATCTACTAGC -3'
(R):5'- CTGTGTCATTCCTGAGTTATTACATC -3'
Posted On 2018-11-06