Mutagenetix > Incidental Mutation

Incidental Mutation 'R8247:Mak'

640727

Institutional Source

Beutler Lab

Gene Symbol

Mak

Ensembl Gene

ENSMUSG00000021363

Gene Name

male germ cell-associated kinase

Synonyms

A930010O05Rik

MMRRC Submission

067674-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R8247 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41178484-41233182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41193146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 473 (T473M)

Ref Sequence

ENSEMBL: ENSMUSP00000129615 (fasta)

Gene Model

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

AlphaFold

Q04859

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021792
AA Change: T473M

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: T473M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070193
AA Change: T442M

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: T442M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165087
AA Change: T473M

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: T473M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	C	6: 52,155,942 (GRCm39)	S3P	unknown	Het
Abca15	A	T	7: 119,936,445 (GRCm39)	Y170F	possibly damaging	Het
Alpl	C	T	4: 137,473,764 (GRCm39)	V313M	probably damaging	Het
Ankrd44	T	C	1: 54,792,102 (GRCm39)	H311R	probably damaging	Het
Atm	A	T	9: 53,361,870 (GRCm39)	L2749Q		Het
Bicd2	C	T	13: 49,533,462 (GRCm39)	R683W	probably damaging	Het
Brat1	C	A	5: 140,698,893 (GRCm39)	P342T	possibly damaging	Het
Camta1	T	A	4: 151,159,721 (GRCm39)	T482S	probably damaging	Het
Carhsp1	A	G	16: 8,481,535 (GRCm39)	V67A	probably damaging	Het
Carmil1	T	A	13: 24,282,998 (GRCm39)	N512I	probably damaging	Het
Ccdc126	C	T	6: 49,316,775 (GRCm39)	T85M	probably damaging	Het
Cd274	C	T	19: 29,362,795 (GRCm39)	Q286*	probably null	Het
Cep192	T	A	18: 67,974,188 (GRCm39)	I1097N	probably benign	Het
Cimip4	A	C	15: 78,262,992 (GRCm39)	S221A	probably benign	Het
Clvs1	A	T	4: 9,281,885 (GRCm39)	N110Y	possibly damaging	Het
Cntln	A	G	4: 85,019,017 (GRCm39)	T102A	probably benign	Het
Cp	A	C	3: 20,020,570 (GRCm39)	I188L	possibly damaging	Het
Crh	A	G	3: 19,748,291 (GRCm39)	L117P	probably benign	Het
Dcaf1	A	T	9: 106,731,427 (GRCm39)	I635F	possibly damaging	Het
Dennd2c	A	G	3: 103,059,637 (GRCm39)	D521G	probably damaging	Het
E2f2	C	T	4: 135,900,126 (GRCm39)	T12M	possibly damaging	Het
Eid2	G	A	7: 27,967,972 (GRCm39)	R198H	probably damaging	Het
Exosc4	G	T	15: 76,213,279 (GRCm39)	C74F	probably damaging	Het
Fanca	A	T	8: 124,010,694 (GRCm39)		probably benign	Het
Ganc	A	T	2: 120,267,181 (GRCm39)	Q499L	probably null	Het
Gfy	T	C	7: 44,827,710 (GRCm39)	T129A	possibly damaging	Het
Gli3	G	T	13: 15,901,360 (GRCm39)	M1582I	possibly damaging	Het
Gm4744	A	G	6: 40,926,402 (GRCm39)	S63P		Het
Htr2b	T	C	1: 86,027,817 (GRCm39)	T230A	probably benign	Het
Iqcb1	T	A	16: 36,678,836 (GRCm39)	N383K	probably benign	Het
Lpcat1	A	T	13: 73,662,071 (GRCm39)	I471F	probably damaging	Het
Lrch3	T	G	16: 32,829,713 (GRCm39)	L781*	probably null	Het
Lrif1	T	A	3: 106,641,692 (GRCm39)	S3T	probably damaging	Het
Lrp2	T	A	2: 69,261,431 (GRCm39)	R4503S	possibly damaging	Het
Lrrc8c	T	C	5: 105,756,310 (GRCm39)	I695T	probably damaging	Het
Map2k5	A	T	9: 63,279,019 (GRCm39)	Y62N	probably damaging	Het
Mbd3l2	T	C	9: 18,356,299 (GRCm39)	L208P	probably damaging	Het
Myo18b	T	C	5: 112,840,062 (GRCm39)	E2577G	probably damaging	Het
Nfia	A	T	4: 97,953,644 (GRCm39)	T461S	probably benign	Het
Oaz3	A	G	3: 94,343,741 (GRCm39)	Y41H	probably damaging	Het
Or10ab5	T	A	7: 108,245,370 (GRCm39)	I138F	probably damaging	Het
Or1p1	C	A	11: 74,180,315 (GRCm39)	T281K	noncoding transcript	Het
Or2ad1	A	G	13: 21,326,295 (GRCm39)	S311P	probably benign	Het
Or51m1	T	C	7: 103,578,783 (GRCm39)	V251A	possibly damaging	Het
Pin1rt1	T	C	2: 104,544,892 (GRCm39)	E80G	probably damaging	Het
Pmpcb	T	C	5: 21,961,852 (GRCm39)	Y457H	probably damaging	Het
Polr2b	T	C	5: 77,468,062 (GRCm39)	S121P	possibly damaging	Het
Ppm1e	C	T	11: 87,122,101 (GRCm39)	G619R	probably benign	Het
Pramel5	T	A	4: 143,999,395 (GRCm39)	M231L	probably damaging	Het
Prex2	G	T	1: 11,270,194 (GRCm39)	C1293F	probably benign	Het
Psg20	A	G	7: 18,416,562 (GRCm39)	F185L	probably benign	Het
Psg28	A	G	7: 18,156,864 (GRCm39)	V457A	probably benign	Het
Pxmp2	A	G	5: 110,422,445 (GRCm39)	L188P	probably damaging	Het
Scd3	A	T	19: 44,227,003 (GRCm39)	N279I	possibly damaging	Het
Scg2	T	G	1: 79,414,236 (GRCm39)	K162N	possibly damaging	Het
Sipa1l2	T	C	8: 126,149,372 (GRCm39)	E1629G	probably benign	Het
Slc27a2	T	A	2: 126,395,515 (GRCm39)	F147L	probably benign	Het
Smco1	T	C	16: 32,092,557 (GRCm39)	V76A	probably benign	Het
Spic	T	C	10: 88,511,923 (GRCm39)	K111R	probably damaging	Het
Spidr	A	G	16: 15,786,390 (GRCm39)		probably null	Het
Sptbn1	T	A	11: 30,063,906 (GRCm39)	I1971F	possibly damaging	Het
Stard8	C	T	X: 98,109,570 (GRCm39)	S155L	probably benign	Het
Tiam1	G	A	16: 89,695,037 (GRCm39)	T140M	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ufl1	T	C	4: 25,250,606 (GRCm39)	E749G	probably benign	Het
Vmn1r168	G	T	7: 23,240,487 (GRCm39)	V115F	possibly damaging	Het
Wars2	G	A	3: 99,094,965 (GRCm39)	V87I	probably benign	Het
Zdhhc14	T	A	17: 5,736,031 (GRCm39)	C170S	probably damaging	Het
Zfp113	C	T	5: 138,143,296 (GRCm39)	C318Y	possibly damaging	Het
Zfp367	A	G	13: 64,300,482 (GRCm39)	S108P	probably benign	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
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
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'- AGATACCAAGGCCCTTTACTCTG -3'
(R):5'- CATCCACTTGTTTGAATCACCG -3'

Sequencing Primer
(F):5'- GCCCTAGCAATACTCTGGTTAGCAG -3'
(R):5'- CGAAGGAGATGGGGTGGG -3'

Posted On

2020-07-28