Mutagenetix > Incidental Mutation

Incidental Mutation 'R0557:Mak'

45669

Institutional Source

Beutler Lab

Gene Symbol

Mak

Ensembl Gene

ENSMUSG00000021363

Gene Name

male germ cell-associated kinase

Synonyms

A930010O05Rik

MMRRC Submission

038749-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R0557 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41178484-41233182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41193135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 446 (Y446H)

Ref Sequence

ENSEMBL: ENSMUSP00000064750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021792] [ENSMUST00000070193] [ENSMUST00000165087] [ENSMUST00000224740] [ENSMUST00000225084]

AlphaFold

Q04859

Predicted Effect

probably benign
Transcript: ENSMUST00000021792
AA Change: Y477H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: Y477H

Domain	Start	End	E-Value	Type
S_TKc	4	284	5.24e-100	SMART
low complexity region	356	369	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070193
AA Change: Y446H

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: Y446H

Domain	Start	End	E-Value	Type
S_TKc	4	253	3.81e-70	SMART
low complexity region	325	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165087
AA Change: Y477H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: Y477H

Domain	Start	End	E-Value	Type
S_TKc	4	284	5.24e-100	SMART
low complexity region	356	369	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224740
AA Change: Y477H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000225084
AA Change: Y477H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225789

Predicted Effect

unknown
Transcript: ENSMUST00000225906
AA Change: Y38H

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,903,519 (GRCm39)	H266Y	probably damaging	Het
Abi3bp	C	T	16: 56,488,750 (GRCm39)	R1294C	probably damaging	Het
Acot3	T	C	12: 84,105,630 (GRCm39)	Y366H	probably damaging	Het
Ago1	A	G	4: 126,353,817 (GRCm39)	V254A	probably benign	Het
Ahnak	T	A	19: 8,979,308 (GRCm39)	D197E	probably benign	Het
Aldh1b1	A	T	4: 45,802,647 (GRCm39)	T62S	probably benign	Het
Alox12e	T	C	11: 70,212,274 (GRCm39)	R135G	possibly damaging	Het
Amn1	T	C	6: 149,072,503 (GRCm39)	Y78C	possibly damaging	Het
Ankmy2	G	A	12: 36,237,765 (GRCm39)	S288N	probably benign	Het
Ano3	A	T	2: 110,693,297 (GRCm39)		probably null	Het
Arfgap3	T	C	15: 83,187,386 (GRCm39)	D491G	probably damaging	Het
Arhgap15	T	C	2: 44,006,629 (GRCm39)	S249P	possibly damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
Cabin1	A	G	10: 75,562,751 (GRCm39)	Y12H	probably damaging	Het
Cdkn2aip	T	C	8: 48,165,977 (GRCm39)	T110A	probably damaging	Het
Cemip2	C	T	19: 21,789,267 (GRCm39)	A567V	probably benign	Het
Chchd6	A	G	6: 89,551,569 (GRCm39)	S31P	probably damaging	Het
Chrna3	A	G	9: 54,923,149 (GRCm39)	Y220H	probably damaging	Het
Ctu1	A	G	7: 43,326,583 (GRCm39)	D414G	unknown	Het
Cxxc1	C	T	18: 74,351,845 (GRCm39)	R241W	possibly damaging	Het
Cyp3a16	A	G	5: 145,406,398 (GRCm39)	I18T	unknown	Het
Dip2c	A	T	13: 9,603,495 (GRCm39)	I405F	possibly damaging	Het
Disp3	A	T	4: 148,325,861 (GRCm39)	M1299K	possibly damaging	Het
Dnah9	T	G	11: 65,975,492 (GRCm39)	H1519P	probably damaging	Het
Ehd3	C	A	17: 74,136,928 (GRCm39)	Q366K	probably benign	Het
Exosc3	A	T	4: 45,316,957 (GRCm39)	M232K	probably damaging	Het
Fancm	T	C	12: 65,165,216 (GRCm39)		probably null	Het
Fgfr2	A	G	7: 129,820,811 (GRCm39)	V241A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Hars2	T	C	18: 36,924,130 (GRCm39)	I489T	possibly damaging	Het
Ice1	T	C	13: 70,749,310 (GRCm39)	I1945V	probably benign	Het
Il33	A	C	19: 29,932,036 (GRCm39)	N143T	probably damaging	Het
Ilvbl	G	A	10: 78,419,321 (GRCm39)	W313*	probably null	Het
Insyn2a	A	G	7: 134,520,434 (GRCm39)	L32P	probably damaging	Het
Isca1	G	T	13: 59,904,788 (GRCm39)	Q91K	possibly damaging	Het
Kcnh5	T	A	12: 75,161,323 (GRCm39)	Y195F	probably damaging	Het
Lama4	T	G	10: 38,964,393 (GRCm39)	I1355S	probably benign	Het
Lonrf1	T	C	8: 36,697,574 (GRCm39)	D470G	probably benign	Het
Mki67	C	T	7: 135,300,990 (GRCm39)	S1348N	possibly damaging	Het
Mpzl3	A	G	9: 44,977,806 (GRCm39)	Y138C	probably damaging	Het
Myh8	T	C	11: 67,192,624 (GRCm39)	L1501P	possibly damaging	Het
Naa35	A	G	13: 59,775,778 (GRCm39)	E552G	probably damaging	Het
Ncor2	A	T	5: 125,183,369 (GRCm39)	L200*	probably null	Het
Nrm	T	C	17: 36,175,524 (GRCm39)	V210A	probably damaging	Het
Nt5e	T	A	9: 88,248,519 (GRCm39)	N405K	probably damaging	Het
Or1j4	T	A	2: 36,740,760 (GRCm39)	I234N	possibly damaging	Het
Or1o11	T	A	17: 37,756,712 (GRCm39)	I100N	probably damaging	Het
Orc2	T	C	1: 58,508,846 (GRCm39)	S434G	probably damaging	Het
Plcb4	G	A	2: 135,796,269 (GRCm39)	V388I	probably damaging	Het
Ppm1l	A	G	3: 69,405,234 (GRCm39)	D177G	probably benign	Het
Prl8a2	A	T	13: 27,536,875 (GRCm39)	R165*	probably null	Het
Ptbp3	G	A	4: 59,517,684 (GRCm39)	R66*	probably null	Het
Pten	A	G	19: 32,795,290 (GRCm39)	T286A	probably benign	Het
Rac2	C	T	15: 78,449,174 (GRCm39)	V113M	probably damaging	Het
Rai1	C	T	11: 60,081,321 (GRCm39)	T1795I	probably benign	Het
Ros1	T	G	10: 51,961,359 (GRCm39)	K1792Q	possibly damaging	Het
Sema6a	A	G	18: 47,382,567 (GRCm39)	V660A	probably benign	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc26a5	A	G	5: 22,024,762 (GRCm39)	S441P	probably damaging	Het
Slc27a3	A	G	3: 90,294,163 (GRCm39)	L462P	probably damaging	Het
Spag5	T	A	11: 78,205,037 (GRCm39)	S607R	probably damaging	Het
Spata18	A	T	5: 73,809,013 (GRCm39)	N29Y	probably damaging	Het
Spata20	C	T	11: 94,376,048 (GRCm39)	R22H	probably benign	Het
Spsb2	A	C	6: 124,787,355 (GRCm39)	Y263S	probably damaging	Het
Sptbn4	C	A	7: 27,107,753 (GRCm39)	E885*	probably null	Het
Syne2	T	C	12: 75,976,075 (GRCm39)	I1175T	probably benign	Het
Tmem209	A	C	6: 30,501,913 (GRCm39)	H253Q	probably damaging	Het
Trip12	A	T	1: 84,702,468 (GRCm39)	D788E	probably damaging	Het
Usp34	T	C	11: 23,353,848 (GRCm39)	S1509P	probably damaging	Het
Utp20	A	T	10: 88,584,173 (GRCm39)	D2661E	probably damaging	Het
Vars1	C	A	17: 35,223,960 (GRCm39)	P264Q	possibly damaging	Het
Vmn2r66	T	G	7: 84,643,972 (GRCm39)	S813R	probably damaging	Het
Wipf2	C	A	11: 98,782,915 (GRCm39)	Q114K	possibly damaging	Het
Wnt5b	G	T	6: 119,410,779 (GRCm39)	H220Q	probably damaging	Het
Xirp2	A	G	2: 67,346,695 (GRCm39)	T2979A	probably benign	Het
Zfyve9	A	G	4: 108,531,708 (GRCm39)	V408A	probably damaging	Het
Zzef1	T	C	11: 72,808,556 (GRCm39)	S2744P	probably damaging	Het

Other mutations in Mak

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GCAATACTCTGGTTAGCAGCAAACG -3'
(R):5'- CCAGTCCTCCAGCATTGTGAATCC -3'

Sequencing Primer
(F):5'- AACGTTTGTTGTCTTGAACCAG -3'
(R):5'- AGAGGTTCTGTCACAACCTG -3'

Posted On

2013-06-11