Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Mei1'

541675

Institutional Source

Beutler Lab

Gene Symbol

Mei1

Ensembl Gene

ENSMUSG00000068117

Gene Name

meiotic double-stranded break formation protein 1

Synonyms

mei1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82069996-82126814 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82124875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1237 (V1237A)

Ref Sequence

ENSEMBL: ENSMUSP00000154974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089174] [ENSMUST00000089178] [ENSMUST00000186125] [ENSMUST00000188048] [ENSMUST00000189540] [ENSMUST00000229119] [ENSMUST00000229411] [ENSMUST00000229597]

AlphaFold

Q9D4I2

Predicted Effect

probably benign
Transcript: ENSMUST00000089174

SMART Domains

Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ERK-JNK_inhib	23	223	1.7e-71	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: V1181A

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

SMART Domains

Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: V807A

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: V807A

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: ENSMUST00000229119
AA Change: V1237A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000229411

Predicted Effect

probably benign
Transcript: ENSMUST00000229597

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Atp11a	T	A	8: 12,820,467	D173E	probably damaging	Het
Btnl2	G	A	17: 34,363,359	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fam126a	T	C	5: 23,991,756	I45V	possibly damaging	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,117,148		probably null	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Ktn1	T	A	14: 47,720,256	F1004I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mau2	T	C	8: 70,033,228	D110G	probably damaging	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Ncapd2	A	G	6: 125,168,920	F1293L	probably benign	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,231,312	M498K	probably benign	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	probably damaging	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
R3933:Mei1	UTSW	15	82083152	missense	possibly damaging	0.75
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
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
R8728:Mei1	UTSW	15	82081981	missense
R8902:Mei1	UTSW	15	82070011	missense	unknown
R9048:Mei1	UTSW	15	82084835	nonsense	probably null
R9233:Mei1	UTSW	15	82089551	missense
R9285:Mei1	UTSW	15	82100969	missense
RF051:Mei1	UTSW	15	82070010	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGCTCAGTCTACATTATCTGCC -3'
(R):5'- AGAGCTTCCACCTTCTGCAG -3'

Sequencing Primer
(F):5'- ATTATCTGCCCTTTTCTCCTGTGAG -3'
(R):5'- TCTGCAGAGAAGATGGTCCTG -3'

Posted On

2018-11-28