Mutagenetix > Incidental Mutation

Incidental Mutation 'R0616:Mak'

58350

Institutional Source

Beutler Lab

Gene Symbol

Mak

Ensembl Gene

ENSMUSG00000021363

Gene Name

male germ cell-associated kinase

Synonyms

A930010O05Rik

MMRRC Submission

038805-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R0616 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

41178484-41233182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41195661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 382 (N382D)

Ref Sequence

ENSEMBL: ENSMUSP00000152946 (fasta)

Gene Model

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

AlphaFold

Q04859

Predicted Effect

probably benign
Transcript: ENSMUST00000021792
AA Change: N382D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: N382D

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: N351D

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

SMART Domains

Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: N351D

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: N382D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: N382D

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: N382D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225084
AA Change: N382D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225789

Predicted Effect

probably benign
Transcript: ENSMUST00000225906

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,341,830 (GRCm39)	Q1044K	probably damaging	Het
Abi3bp	A	T	16: 56,474,433 (GRCm39)	T723S	probably damaging	Het
Ackr3	G	A	1: 90,142,191 (GRCm39)	V217I	probably benign	Het
Acnat2	A	G	4: 49,380,269 (GRCm39)	S370P	probably damaging	Het
Arap1	A	G	7: 101,050,857 (GRCm39)	R1152G	possibly damaging	Het
Arhgap15	G	A	2: 44,006,729 (GRCm39)		probably null	Het
Arhgap5	C	T	12: 52,563,848 (GRCm39)	T273I	possibly damaging	Het
Armh4	G	T	14: 50,011,113 (GRCm39)	T198K	possibly damaging	Het
C1s2	T	C	6: 124,605,723 (GRCm39)	E332G	probably damaging	Het
Camp	G	A	9: 109,677,707 (GRCm39)	R88W	probably benign	Het
Cdkl2	A	G	5: 92,156,863 (GRCm39)	M564T	probably benign	Het
Ceacam20	A	G	7: 19,704,321 (GRCm39)	H124R	probably benign	Het
Cep19	C	T	16: 31,922,829 (GRCm39)	R32C	probably damaging	Het
Cep295	G	A	9: 15,243,618 (GRCm39)	Q1565*	probably null	Het
Chd3	T	C	11: 69,236,313 (GRCm39)	E1932G	probably damaging	Het
Cibar1	G	A	4: 12,168,234 (GRCm39)	R210*	probably null	Het
Cnr2	G	T	4: 135,644,873 (GRCm39)	W317L	probably benign	Het
Cntnap5a	C	T	1: 116,508,279 (GRCm39)	H1264Y	possibly damaging	Het
Depdc7	T	A	2: 104,557,650 (GRCm39)	N200I	probably benign	Het
Dock4	T	C	12: 40,754,414 (GRCm39)	S468P	probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Fam217a	C	A	13: 35,097,666 (GRCm39)	S55I	probably benign	Het
Farp1	G	A	14: 121,514,434 (GRCm39)	R921H	probably damaging	Het
Fat4	A	G	3: 38,997,019 (GRCm39)	D1746G	probably damaging	Het
Fbxw5	T	C	2: 25,392,517 (GRCm39)	F100L	probably damaging	Het
Gli3	C	A	13: 15,836,991 (GRCm39)	T458K	possibly damaging	Het
Gm4841	T	C	18: 60,404,009 (GRCm39)	Y28C	probably benign	Het
Gprc5d	T	C	6: 135,093,430 (GRCm39)	E159G	probably benign	Het
Grm4	A	T	17: 27,653,538 (GRCm39)	I757N	probably damaging	Het
Hagh	A	G	17: 25,076,551 (GRCm39)	Y94C	probably damaging	Het
Hycc1	T	C	5: 24,191,770 (GRCm39)	T44A	probably damaging	Het
Itpkb	T	C	1: 180,249,301 (GRCm39)	I892T	probably damaging	Het
Kcmf1	T	C	6: 72,827,467 (GRCm39)	I58V	probably benign	Het
Khdrbs2	A	G	1: 32,506,856 (GRCm39)	I167V	possibly damaging	Het
Kmt2c	A	G	5: 25,504,250 (GRCm39)	I275T	probably benign	Het
Lingo4	A	G	3: 94,310,388 (GRCm39)	K442R	probably benign	Het
Maob	G	A	X: 16,576,402 (GRCm39)	T480I	possibly damaging	Het
Mcoln1	A	G	8: 3,565,025 (GRCm39)	E573G	probably benign	Het
Ms4a6b	G	A	19: 11,504,262 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,349,981 (GRCm39)	M576V	probably benign	Het
Nme8	T	A	13: 19,875,029 (GRCm39)	D126V	probably benign	Het
Npy2r	T	A	3: 82,448,670 (GRCm39)	D35V	possibly damaging	Het
Nrxn1	T	C	17: 90,670,285 (GRCm39)	D193G	probably damaging	Het
Or2g7	A	C	17: 38,378,131 (GRCm39)	E23A	probably damaging	Het
Or2y1e	T	C	11: 49,218,583 (GRCm39)	L115P	probably damaging	Het
Or4c10b	T	A	2: 89,711,935 (GRCm39)	V255E	probably benign	Het
Or4d5	A	T	9: 40,012,283 (GRCm39)	F168I	probably damaging	Het
Or52b4i	T	A	7: 102,191,761 (GRCm39)	M206K	possibly damaging	Het
Or6d14	A	G	6: 116,533,889 (GRCm39)	I168V	probably benign	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Or8c17	G	T	9: 38,180,630 (GRCm39)	V266L	probably benign	Het
Or8g18	G	A	9: 39,148,946 (GRCm39)	T258M	probably benign	Het
Pabpc2	A	T	18: 39,906,792 (GRCm39)	H19L	possibly damaging	Het
Pcdhb9	A	T	18: 37,535,028 (GRCm39)	K341*	probably null	Het
Pde4dip	T	C	3: 97,654,849 (GRCm39)	I859M	probably benign	Het
Pfkfb2	T	C	1: 130,634,159 (GRCm39)		probably null	Het
Pigg	C	T	5: 108,461,951 (GRCm39)	T94M	probably damaging	Het
Pik3c2b	T	C	1: 133,028,569 (GRCm39)	F1353L	probably damaging	Het
Prg4	T	C	1: 150,336,462 (GRCm39)	D87G	probably damaging	Het
Prkdc	A	T	16: 15,508,271 (GRCm39)	D974V	probably damaging	Het
Prmt3	A	G	7: 49,437,076 (GRCm39)	Y217C	probably damaging	Het
Proser1	A	G	3: 53,382,118 (GRCm39)	T192A	probably damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Rb1cc1	A	G	1: 6,314,486 (GRCm39)	K386R	possibly damaging	Het
Rcn2	A	G	9: 55,963,534 (GRCm39)	D221G	probably benign	Het
Rhbdl3	T	G	11: 80,222,687 (GRCm39)	H245Q	probably damaging	Het
Ribc1	T	C	X: 150,788,787 (GRCm39)	E204G	probably damaging	Het
Rpap1	G	A	2: 119,608,601 (GRCm39)	L254F	probably damaging	Het
Rrp12	A	G	19: 41,880,988 (GRCm39)	F148L	possibly damaging	Het
Rusf1	A	T	7: 127,871,803 (GRCm39)		probably null	Het
Setdb1	A	T	3: 95,249,109 (GRCm39)	I333K	probably damaging	Het
Simc1	A	G	13: 54,694,845 (GRCm39)	I1210V	probably benign	Het
Smchd1	T	A	17: 71,686,569 (GRCm39)	D1379V	probably benign	Het
Snap29	A	T	16: 17,240,370 (GRCm39)	K159*	probably null	Het
Spdye4c	A	T	2: 128,436,132 (GRCm39)	K176M	possibly damaging	Het
Stk31	T	A	6: 49,400,419 (GRCm39)	W415R	probably damaging	Het
Supt6	C	T	11: 78,100,321 (GRCm39)	R1497Q	probably damaging	Het
Tenm3	A	G	8: 48,729,191 (GRCm39)	I1605T	possibly damaging	Het
Ttn	T	C	2: 76,676,967 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,728,011 (GRCm39)		probably benign	Het
Ucp3	A	T	7: 100,129,368 (GRCm39)	T68S	probably benign	Het
Ugt2b36	T	C	5: 87,237,336 (GRCm39)	N316D	probably benign	Het
Usp4	T	G	9: 108,244,003 (GRCm39)	S247A	probably benign	Het
Utp20	A	T	10: 88,606,613 (GRCm39)	V1653D	probably benign	Het
Vmn1r183	A	G	7: 23,754,250 (GRCm39)	I18V	probably benign	Het
Vmn1r237	A	G	17: 21,534,885 (GRCm39)	M203V	probably damaging	Het
Vmn1r61	A	T	7: 5,613,998 (GRCm39)	F105L	possibly damaging	Het
Zfp462	T	C	4: 55,011,951 (GRCm39)	C158R	probably damaging	Het
Zfyve16	C	G	13: 92,657,637 (GRCm39)	R758P	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
R0557:Mak	UTSW	13	41,193,135 (GRCm39)	missense	probably benign	0.11
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'- TGTGCAACCTCACCGAAATGGAG -3'
(R):5'- TTGTTGCCCGTGAACAAAAGCC -3'

Sequencing Primer
(F):5'- GGAGACTCCTTCTTCTTCTCCTTG -3'
(R):5'- GTGAACAAAAGCCACACTAGTCG -3'

Posted On

2013-07-11