Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Mak'

560329

Institutional Source

Beutler Lab

Gene Symbol

Mak

Ensembl Gene

ENSMUSG00000021363

Gene Name

male germ cell-associated kinase

Synonyms

A930010O05Rik

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41178484-41233182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41204916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 141 (I141V)

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: I141V

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

SMART Domains

Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: I141V

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: I110V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: I110V

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: I141V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: I141V

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: I141V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224740
AA Change: I141V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225084
AA Change: I141V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,300 (GRCm39)	T903A	probably benign	Het
Acin1	A	T	14: 54,902,356 (GRCm39)	S479T	possibly damaging	Het
Actr6	A	T	10: 89,548,374 (GRCm39)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,872,069 (GRCm39)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,814,546 (GRCm39)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,250,166 (GRCm39)	Q306*	probably null	Het
Art4	A	T	6: 136,831,547 (GRCm39)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm39)	R686W	probably damaging	Het
Atg7	A	G	6: 114,754,018 (GRCm39)	H724R	probably damaging	Het
BC034090	A	G	1: 155,117,680 (GRCm39)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,613,639 (GRCm39)	Q45L	probably damaging	Het
Bmal1	T	A	7: 112,884,349 (GRCm39)	M122K	probably damaging	Het
Cd28	G	T	1: 60,802,332 (GRCm39)	E84*	probably null	Het
Ceacam3	G	A	7: 16,892,163 (GRCm39)	W302*	probably null	Het
Cerkl	T	C	2: 79,163,934 (GRCm39)	N462S	probably benign	Het
Cisd2	A	T	3: 135,116,974 (GRCm39)	L39H	probably damaging	Het
Col11a1	C	A	3: 113,883,806 (GRCm39)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm39)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,192,991 (GRCm39)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,390,220 (GRCm39)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,928,257 (GRCm39)	S263A	probably benign	Het
Cyp3a25	T	A	5: 145,939,868 (GRCm39)	L46F	probably benign	Het
Dmrta1	T	A	4: 89,580,408 (GRCm39)	L456*	probably null	Het
Dnah12	T	C	14: 26,536,579 (GRCm39)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,461,368 (GRCm39)	S253R	probably damaging	Het
Egln2	A	C	7: 26,859,744 (GRCm39)	I323S	probably damaging	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,790,966 (GRCm39)	Q276K	probably benign	Het
Fcrl2	C	T	3: 87,159,934 (GRCm39)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 52,963,666 (GRCm39)	V266A	unknown	Het
Glo1	A	T	17: 30,816,828 (GRCm39)	D109E	probably benign	Het
Grin3b	A	G	10: 79,809,912 (GRCm39)	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015 (GRCm39)	L425F	probably damaging	Het
Iho1	A	T	9: 108,281,974 (GRCm39)	D571E	probably damaging	Het
Ilrun	A	C	17: 28,013,044 (GRCm39)		probably null	Het
Kcnq5	T	C	1: 21,473,099 (GRCm39)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,850,306 (GRCm39)	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,787,240 (GRCm39)	Q37K	probably benign	Het
Ly6a	T	A	15: 74,868,325 (GRCm39)	T55S	probably benign	Het
Lyst	T	A	13: 13,883,885 (GRCm39)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,522,177 (GRCm39)	Y140H	probably benign	Het
Mapk7	A	G	11: 61,379,998 (GRCm39)	I789T	probably benign	Het
Mgat4f	A	G	1: 134,318,206 (GRCm39)	D326G	possibly damaging	Het
Mrpl4	T	C	9: 20,918,634 (GRCm39)	I123T	probably benign	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Myef2	T	C	2: 124,938,082 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,228,402 (GRCm39)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,863,325 (GRCm39)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,807,877 (GRCm39)	Y85*	probably null	Het
Nyap1	A	T	5: 137,734,524 (GRCm39)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,887 (GRCm39)		probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,553 (GRCm39)	Y157H	probably damaging	Het
Or1e32	A	G	11: 73,705,167 (GRCm39)	V247A	probably benign	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Papss1	T	C	3: 131,305,687 (GRCm39)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,433,844 (GRCm39)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,942,177 (GRCm39)	M1K	probably null	Het
Ppwd1	G	A	13: 104,343,680 (GRCm39)	P575L	probably damaging	Het
Pramel17	T	A	4: 101,695,338 (GRCm39)		probably null	Het
Prc1	A	G	7: 79,960,837 (GRCm39)	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,227,602 (GRCm39)	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,516,667 (GRCm39)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 184,999,388 (GRCm39)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,335,626 (GRCm39)	Q539*	probably null	Het
Rps12	A	G	10: 23,661,129 (GRCm39)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,679,079 (GRCm39)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,609,664 (GRCm39)	P294L	probably benign	Het
Slc6a2	T	C	8: 93,722,300 (GRCm39)	Y516H	probably damaging	Het
Slit2	A	G	5: 48,394,627 (GRCm39)	N673S	probably null	Het
Snap91	A	T	9: 86,672,199 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,127,461 (GRCm39)	M1850V	probably benign	Het
Srpk2	A	G	5: 23,712,626 (GRCm39)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,016,213 (GRCm39)	S824T	probably benign	Het
Taar7a	A	G	10: 23,868,358 (GRCm39)	V341A	probably benign	Het
Tmem52	G	A	4: 155,554,778 (GRCm39)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,606,951 (GRCm39)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Vmn1r173	A	T	7: 23,401,583 (GRCm39)		probably benign	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vwce	A	G	19: 10,615,479 (GRCm39)	E120G	possibly damaging	Het
Zfp143	T	C	7: 109,692,287 (GRCm39)	V566A	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
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'- TCGTTAGTAGAATTCTTCACTAGCC -3'
(R):5'- AAGTGTTTCCTCCCGTAGCC -3'

Sequencing Primer
(F):5'- AGAATTCTTCACTAGCCAATTCTTC -3'
(R):5'- CCCTGTGCTGCTAATAGGAG -3'

Posted On

2019-06-26