Incidental Mutation 'R2042:Mak'
ID 225122
Institutional Source Beutler Lab
Gene Symbol Mak
Ensembl Gene ENSMUSG00000021363
Gene Name male germ cell-associated kinase
Synonyms A930010O05Rik
MMRRC Submission 040049-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # R2042 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41178484-41233182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 41202912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 179 (S179A)
Ref Sequence ENSEMBL: ENSMUSP00000153314 (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: S179A

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: S179A

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: S148A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: S148A

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: S179A

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: S179A

DomainStartEndE-ValueType
S_TKc 4 284 5.24e-100 SMART
low complexity region 356 369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224423
AA Change: S179A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224740
AA Change: S179A

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000225084
AA Change: S179A

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225789
Meta Mutation Damage Score 0.1158 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,210,377 (GRCm39) probably benign Het
Abca16 G A 7: 120,143,941 (GRCm39) R1653Q probably benign Het
Ahnak2 T A 12: 112,749,439 (GRCm39) Y176F probably damaging Het
Ano6 T C 15: 95,853,904 (GRCm39) probably null Het
Atr T C 9: 95,752,075 (GRCm39) L564S probably benign Het
Birc6 C G 17: 74,916,654 (GRCm39) A1774G probably damaging Het
Cacng1 C T 11: 107,595,134 (GRCm39) A148T probably damaging Het
Cd53 T A 3: 106,674,740 (GRCm39) probably null Het
Celsr2 A G 3: 108,309,811 (GRCm39) F1596S probably damaging Het
Cep120 A T 18: 53,868,814 (GRCm39) F122I possibly damaging Het
Ckm A T 7: 19,148,082 (GRCm39) H7L possibly damaging Het
Crybg2 T C 4: 133,814,844 (GRCm39) V1575A possibly damaging Het
Cspp1 A G 1: 10,182,763 (GRCm39) E712G probably damaging Het
Cyp2b23 C A 7: 26,365,533 (GRCm39) R434L probably damaging Het
D630003M21Rik A T 2: 158,057,769 (GRCm39) S570T probably damaging Het
Dmbt1 A G 7: 130,708,089 (GRCm39) I1444V probably damaging Het
Dnah8 T C 17: 30,854,632 (GRCm39) V98A probably benign Het
Dtx1 T G 5: 120,832,541 (GRCm39) N299T probably benign Het
Efr3b T A 12: 4,034,627 (GRCm39) D65V probably damaging Het
Eml4 T C 17: 83,755,607 (GRCm39) C323R probably damaging Het
Eps15 C T 4: 109,161,964 (GRCm39) T31I probably damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbxl8 A T 8: 105,994,856 (GRCm39) I123F probably damaging Het
Fbxw26 T G 9: 109,561,772 (GRCm39) T141P probably damaging Het
Fhip1b G T 7: 105,033,328 (GRCm39) Y629* probably null Het
Glra3 G A 8: 56,515,494 (GRCm39) D190N probably benign Het
Hspg2 T C 4: 137,295,677 (GRCm39) L4229P probably damaging Het
Ipmk C T 10: 71,199,333 (GRCm39) R65W probably damaging Het
Irs2 A G 8: 11,057,580 (GRCm39) I284T probably damaging Het
Klhl22 T C 16: 17,610,284 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,292,851 (GRCm39) D234E probably benign Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Magi1 A T 6: 93,732,026 (GRCm39) N209K probably benign Het
Map3k4 C A 17: 12,496,870 (GRCm39) R87L probably damaging Het
Map4k1 T C 7: 28,683,555 (GRCm39) L53P probably damaging Het
Melk T C 4: 44,309,051 (GRCm39) probably null Het
Mks1 C T 11: 87,747,494 (GRCm39) probably benign Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
N4bp2 C T 5: 65,983,964 (GRCm39) P1670S probably damaging Het
Ncf1 C G 5: 134,255,494 (GRCm39) Q132H probably benign Het
Nemp1 T C 10: 127,532,203 (GRCm39) S370P possibly damaging Het
Nt5c3b T C 11: 100,327,020 (GRCm39) H92R probably benign Het
Or12j2 T C 7: 139,915,850 (GRCm39) L25P probably damaging Het
Or4p19 G A 2: 88,242,546 (GRCm39) A152V possibly damaging Het
P4ha3 T C 7: 99,949,897 (GRCm39) probably null Het
Pcnx1 C A 12: 81,965,067 (GRCm39) H411Q probably damaging Het
Podxl A G 6: 31,500,051 (GRCm39) V473A possibly damaging Het
Prkd2 T C 7: 16,590,193 (GRCm39) S530P possibly damaging Het
Scin A G 12: 40,127,509 (GRCm39) I427T possibly damaging Het
Sgo2b T C 8: 64,381,561 (GRCm39) T424A probably benign Het
Slc22a2 T C 17: 12,818,012 (GRCm39) I196T probably benign Het
Slc47a2 C A 11: 61,228,908 (GRCm39) V90L probably benign Het
Slc4a7 G A 14: 14,737,386 (GRCm38) V99M probably damaging Het
Spata31f3 C T 4: 42,874,030 (GRCm39) C46Y possibly damaging Het
Sprr2k T C 3: 92,340,763 (GRCm39) probably benign Het
Spta1 G A 1: 174,039,213 (GRCm39) M1185I probably benign Het
Tent5b T C 4: 133,213,924 (GRCm39) V265A possibly damaging Het
Uaca T C 9: 60,777,173 (GRCm39) V518A probably damaging Het
Ubr3 C T 2: 69,808,118 (GRCm39) Q1200* probably null Het
Ufm1 A G 3: 53,766,702 (GRCm39) probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp142 G A 1: 74,609,778 (GRCm39) T1236I probably benign Het
Zfp236 A G 18: 82,651,234 (GRCm39) Y845H probably damaging Het
Zfp747l1 A T 7: 126,984,641 (GRCm39) C154S possibly damaging Het
Zfp787 T C 7: 6,135,763 (GRCm39) K163E 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
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'- AATAGCAAGTGAGGGACCACTC -3'
(R):5'- CTAACTGCGGTCAGGAAATAGGTG -3'

Sequencing Primer
(F):5'- ACTCGGAGAAGCCAGGCTAC -3'
(R):5'- CGGTCAGGAAATAGGTGTCTCAC -3'
Posted On 2014-08-25