Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Mak'

579364

Institutional Source

Beutler Lab

Gene Symbol

Mak

Ensembl Gene

ENSMUSG00000021363

Gene Name

male germ cell-associated kinase

Synonyms

A930010O05Rik

MMRRC Submission

045548-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41178484-41233182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41204956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 127 (K127N)

Ref Sequence

ENSEMBL: ENSMUSP00000129615 (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: K127N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: K127N

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 damaging
Transcript: ENSMUST00000070193
AA Change: K96N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: K96N

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 damaging
Transcript: ENSMUST00000165087
AA Change: K127N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: K127N

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 damaging
Transcript: ENSMUST00000224423
AA Change: K127N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224740
AA Change: K127N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225084
AA Change: K127N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,860,132 (GRCm39)	L333*	probably null	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,607,310 (GRCm39)	V706A	probably benign	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Extl3	T	C	14: 65,314,090 (GRCm39)	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,325,100 (GRCm39)	G502W	probably damaging	Het
Insc	G	A	7: 114,368,058 (GRCm39)		probably null	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Obsl1	A	C	1: 75,474,828 (GRCm39)	N857K	probably benign	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Prickle1	A	T	15: 93,406,552 (GRCm39)	V157D	possibly damaging	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,314,039 (GRCm39)	C515S	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	possibly 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
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
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'- TACCCAATATGGACTCTCTGGAAAG -3'
(R):5'- ACGTCATGTGAACCTTCTCC -3'

Sequencing Primer
(F):5'- GACTCTCTGGAAAGATAATTAACTGG -3'
(R):5'- TTGCAAGCAAGTTCCCTCAC -3'

Posted On

2019-10-07