Incidental Mutation 'R0786:Mak'
ID 76872
Institutional Source Beutler Lab
Gene Symbol Mak
Ensembl Gene ENSMUSG00000021363
Gene Name male germ cell-associated kinase
Synonyms A930010O05Rik
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 41178484-41233182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 41199545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 365 (Q365K)
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
AA Change: Q365K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: Q365K

DomainStartEndE-ValueType
S_TKc 4 284 5.24e-100 SMART
low complexity region 356 369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070193
AA Change: Q334K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: Q334K

DomainStartEndE-ValueType
S_TKc 4 253 3.81e-70 SMART
low complexity region 325 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165087
AA Change: Q365K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: Q365K

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
AA Change: Q365K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225084
AA Change: Q365K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225789
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E 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
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
Predicted Primers PCR Primer
(F):5'- TCTTCAATGACACCTGCGGCATAC -3'
(R):5'- GCCAAAGCCATCTTCCTCTGAACG -3'

Sequencing Primer
(F):5'- GCGGCATACGGATGTTACTC -3'
(R):5'- TGAACGGGATCCTAAGCCTT -3'
Posted On 2013-10-16