Mutagenetix > Incidental Mutations

Incidental Mutation 'R3933:Mei1'

308573

Institutional Source

Beutler Lab

Gene Symbol

Mei1

Ensembl Gene

ENSMUSG00000068117

Gene Name

meiotic double-stranded break formation protein 1

Synonyms

mei1

MMRRC Submission

040920-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R3933 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

82069996-82126814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82083152 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 310 (K310E)

Ref Sequence

ENSEMBL: ENSMUSP00000086582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089178] [ENSMUST00000186125] [ENSMUST00000188048] [ENSMUST00000189540] [ENSMUST00000229119]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089178
AA Change: K310E

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: K310E

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
SCOP:d1gw5a_	123	498	1e-3	SMART
low complexity region	956	966	N/A	INTRINSIC
low complexity region	1025	1045	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186125

Predicted Effect

probably benign
Transcript: ENSMUST00000188048

SMART Domains

Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117

Domain	Start	End	E-Value	Type
low complexity region	523	536	N/A	INTRINSIC
low complexity region	595	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189540

SMART Domains

Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117

Domain	Start	End	E-Value	Type
low complexity region	523	536	N/A	INTRINSIC
low complexity region	595	615	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229119
AA Change: K360E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1049

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

96% (43/45)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,354,856	F3350L	probably damaging	Het
Acp6	T	C	3: 97,166,183	V146A	probably benign	Het
Ap3b2	C	T	7: 81,473,850		probably benign	Het
Arhgef33	A	G	17: 80,373,320	I630V	probably benign	Het
Astn2	G	A	4: 66,403,955	R136C	unknown	Het
Bcl2l14	A	G	6: 134,423,808	D64G	probably damaging	Het
C1rl	T	A	6: 124,508,822	L384*	probably null	Het
Ccdc130	G	A	8: 84,260,352	A172V	probably benign	Het
Ccdc6	TCCGCCGCCGCC	TCCGCCGCC	10: 70,189,170		probably benign	Het
Coch	T	C	12: 51,603,338	I370T	probably damaging	Het
Ercc5	T	A	1: 44,167,856	M643K	probably benign	Het
Fut8	A	C	12: 77,475,259	K557N	probably damaging	Het
Hsdl2	T	C	4: 59,597,274	Y88H	probably damaging	Het
Hspg2	T	C	4: 137,515,568	V670A	probably damaging	Het
Itga8	A	G	2: 12,189,519	I690T	probably benign	Het
Lepr	T	C	4: 101,765,301		probably benign	Het
Matn2	T	C	15: 34,345,420		probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msl3	C	T	X: 168,671,817	A87T	probably damaging	Het
Ogdh	T	C	11: 6,342,601	V438A	possibly damaging	Het
Olfr1109	T	A	2: 87,092,762	I212F	probably benign	Het
Olfr1293-ps	T	C	2: 111,527,955	Y232H	probably damaging	Het
Opa1	A	T	16: 29,610,880	E401D	probably damaging	Het
Parp2	G	A	14: 50,819,387	V323M	probably benign	Het
Pip5k1a	A	G	3: 95,072,003	S161P	probably benign	Het
Pold3	T	C	7: 100,121,401	E8G	probably damaging	Het
Pomt1	G	A	2: 32,245,619	V332I	probably benign	Het
Ppp2ca	T	A	11: 52,119,262	N232K	probably damaging	Het
Prune2	A	T	19: 17,123,954	D2274V	probably damaging	Het
Pwwp2b	G	A	7: 139,256,034	V464I	possibly damaging	Het
Rgs7bp	T	C	13: 105,052,998	M98V	probably benign	Het
Rubcn	A	G	16: 32,829,259		probably null	Het
Scai	A	T	2: 39,075,052	D593E	probably benign	Het
Slc24a2	T	C	4: 87,176,185	T366A	probably benign	Het
Sp100	A	G	1: 85,681,109	I320V	probably benign	Het
Syngr2	C	A	11: 117,813,417	P206Q	probably damaging	Het
Tatdn3	A	T	1: 191,046,324		probably null	Het
Thsd7a	C	T	6: 12,555,226	G220S	probably benign	Het
Tmem28	G	A	X: 99,821,864	V266M	possibly damaging	Het
Vmn2r10	C	A	5: 109,002,222	A319S	possibly damaging	Het
Vmn2r11	C	T	5: 109,053,394	A415T	probably damaging	Het
Vmn2r88	A	G	14: 51,413,978	M258V	probably benign	Het
Wiz	G	A	17: 32,357,898	R561C	probably damaging	Het
Zfp422	T	C	6: 116,626,459	K193R	probably benign	Het

Other mutations in Mei1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Mei1	APN	15	82089552	missense	probably damaging	0.99
IGL01776:Mei1	APN	15	82095932	critical splice donor site	probably null
IGL01864:Mei1	APN	15	82113017	splice site	probably benign
IGL02030:Mei1	APN	15	82115743	missense	probably benign
IGL02148:Mei1	APN	15	82092711	nonsense	probably null
R0135:Mei1	UTSW	15	82071969	nonsense	probably null
R0212:Mei1	UTSW	15	82095931	critical splice donor site	probably null
R0537:Mei1	UTSW	15	82091361	missense	possibly damaging	0.93
R0605:Mei1	UTSW	15	82070150	missense	probably benign
R0727:Mei1	UTSW	15	82070149	missense	probably benign	0.01
R1118:Mei1	UTSW	15	82115867	splice site	probably benign
R1226:Mei1	UTSW	15	82080084	missense	possibly damaging	0.92
R1339:Mei1	UTSW	15	82081995	missense	possibly damaging	0.66
R1558:Mei1	UTSW	15	82107133	missense	probably damaging	1.00
R1769:Mei1	UTSW	15	82112570	splice site	probably null
R1868:Mei1	UTSW	15	82124953	missense	probably damaging	1.00
R1980:Mei1	UTSW	15	82103312	missense	probably benign	0.00
R1981:Mei1	UTSW	15	82103312	missense	probably benign	0.00
R1982:Mei1	UTSW	15	82103312	missense	probably benign	0.00
R2103:Mei1	UTSW	15	82103204	missense	possibly damaging	0.91
R2103:Mei1	UTSW	15	82107036	missense	probably damaging	0.99
R2207:Mei1	UTSW	15	82103249	missense	probably benign	0.08
R2444:Mei1	UTSW	15	82112941	missense	probably damaging	1.00
R3009:Mei1	UTSW	15	82112525	missense	probably damaging	0.97
R3114:Mei1	UTSW	15	82124959	missense	probably benign	0.31
R3546:Mei1	UTSW	15	82098042	missense	probably damaging	0.97
R3720:Mei1	UTSW	15	82103204	missense	possibly damaging	0.91
R3721:Mei1	UTSW	15	82103204	missense	possibly damaging	0.91
R3722:Mei1	UTSW	15	82103204	missense	possibly damaging	0.91
R3752:Mei1	UTSW	15	82086182	missense	probably damaging	0.97
R3778:Mei1	UTSW	15	82082008	missense	probably damaging	1.00
R3848:Mei1	UTSW	15	82113017	splice site	probably benign
R4274:Mei1	UTSW	15	82124863	missense	possibly damaging	0.66
R4765:Mei1	UTSW	15	82112485	missense	possibly damaging	0.96
R5070:Mei1	UTSW	15	82077603	missense	possibly damaging	0.66
R5394:Mei1	UTSW	15	82092756	missense	possibly damaging	0.83
R6108:Mei1	UTSW	15	82075188	missense	possibly damaging	0.66
R6302:Mei1	UTSW	15	82103238	nonsense	probably null
R6849:Mei1	UTSW	15	82079945	missense	possibly damaging	0.92
R6913:Mei1	UTSW	15	82089609	missense	probably benign	0.06
R6919:Mei1	UTSW	15	82081930	missense	probably damaging	0.98
R6959:Mei1	UTSW	15	82124875	missense	probably benign	0.01
R7007:Mei1	UTSW	15	82093999	missense	probably damaging	0.99
R7202:Mei1	UTSW	15	82092642	missense
R7374:Mei1	UTSW	15	82095908	missense
R7438:Mei1	UTSW	15	82115481	missense
R7757:Mei1	UTSW	15	82082623	intron	probably benign
R7857:Mei1	UTSW	15	82092717	missense	not run
R8265:Mei1	UTSW	15	82103307	nonsense	probably null
RF051:Mei1	UTSW	15	82070010	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTGGTACCATGAAGTATG -3'
(R):5'- GTCCATCAGACATTAGCGAGC -3'

Sequencing Primer
(F):5'- CATGAAGTATGGGATCTGGGATG -3'
(R):5'- GACATTAGCGAGCCTACTCTATG -3'

Posted On

2015-04-17