Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Mei1'

265954

Institutional Source

Beutler Lab

Gene Symbol

Mei1

Ensembl Gene

ENSMUSG00000068117

Gene Name

meiotic double-stranded break formation protein 1

Synonyms

mei1

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R1769 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

82069996-82126814 bp(+) (GRCm38)

Type of Mutation

splice site (16 bp from exon)

DNA Base Change (assembly)

C to T at 82112570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154974 (fasta)

Gene Model

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

AlphaFold

Q9D4I2

Predicted Effect

probably null
Transcript: ENSMUST00000089178

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117

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 null
Transcript: ENSMUST00000089178

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117

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 null
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 null
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

probably null
Transcript: ENSMUST00000229119

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,591,821		probably benign	Het
A430033K04Rik	A	G	5: 138,646,257	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325	K1119N	probably damaging	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Abcc9	T	C	6: 142,627,468		probably benign	Het
Akap3	A	G	6: 126,865,846	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,918,740	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ascc3	T	C	10: 50,700,490	V847A	probably damaging	Het
Best3	A	G	10: 117,023,978	N381S	probably benign	Het
Blm	A	T	7: 80,513,370	S78T	probably benign	Het
Bmpr2	T	A	1: 59,868,361	L871Q	probably damaging	Het
Car13	T	A	3: 14,650,735	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 50,792,111	M165V	probably benign	Het
Cd4	A	T	6: 124,866,655	M431K	possibly damaging	Het
Cdh7	C	T	1: 110,052,876	T178I	probably damaging	Het
Ceacam3	C	T	7: 17,158,376	T348I	probably damaging	Het
Cfap54	C	T	10: 92,904,263		probably null	Het
Clcn6	A	T	4: 148,014,301		probably null	Het
Csf3	A	G	11: 98,702,420	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,704,109		probably benign	Het
Cyp2c69	A	G	19: 39,876,371	I221T	probably benign	Het
Dgcr2	T	C	16: 17,857,251		probably benign	Het
Dhcr7	T	C	7: 143,847,513	F474S	probably damaging	Het
Dnah1	T	C	14: 31,310,882	I399V	probably null	Het
Efcab14	T	A	4: 115,752,991	L183Q	probably damaging	Het
Elmsan1	G	A	12: 84,158,350		probably benign	Het
Evx2	A	G	2: 74,659,157	V88A	probably benign	Het
Exph5	A	G	9: 53,373,809	N730S	probably benign	Het
Farsb	T	A	1: 78,466,983	K196I	probably benign	Het
Fbln7	C	T	2: 128,893,762		probably benign	Het
Fhdc1	A	G	3: 84,448,778	F453S	probably damaging	Het
Gast	T	A	11: 100,336,858	W89R	probably damaging	Het
Gata2	A	G	6: 88,205,255	S402G	probably benign	Het
Gin1	T	A	1: 97,792,437	S386T	probably benign	Het
Golgb1	A	G	16: 36,916,001	E1870G	probably damaging	Het
Hivep3	T	A	4: 120,097,571	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,928,760	R486*	probably null	Het
Ifi209	G	A	1: 173,641,162	S186N	probably benign	Het
Ifih1	C	T	2: 62,606,394	A562T	probably damaging	Het
Itch	T	C	2: 155,172,561	L106S	probably damaging	Het
Itga4	T	A	2: 79,315,706		probably null	Het
Kdm4c	A	G	4: 74,280,997	S141G	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klra3	T	C	6: 130,330,263		probably null	Het
Lama2	A	T	10: 27,208,406	S923T	probably damaging	Het
Lama2	G	C	10: 27,208,407	F922L	probably benign	Het
Llgl1	G	A	11: 60,707,047	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,631,681	*301W	probably null	Het
Map1lc3b	C	T	8: 121,593,487		probably benign	Het
Mbd2	A	G	18: 70,616,619	I302V	probably benign	Het
Med27	A	G	2: 29,500,295	Y78C	probably damaging	Het
Miga1	T	C	3: 152,287,554	E346G	probably damaging	Het
Myef2	A	G	2: 125,115,443	S131P	probably damaging	Het
Myocd	T	C	11: 65,178,701	H899R	probably benign	Het
Ncam1	A	G	9: 49,545,256		probably benign	Het
Ngf	T	A	3: 102,520,197	N87K	possibly damaging	Het
Nol10	T	A	12: 17,416,708		probably benign	Het
Nrip2	A	G	6: 128,408,268	I221V	probably benign	Het
Nup205	G	A	6: 35,205,431	G777D	probably damaging	Het
Olfr1446	A	G	19: 12,889,683	V298A	probably damaging	Het
Olfr199	A	G	16: 59,215,981	F211L	probably benign	Het
Olfr802	T	A	10: 129,682,212	T176S	probably benign	Het
Olfr855	A	T	9: 19,585,386	Q283L	probably damaging	Het
Olfr974	G	T	9: 39,942,955	D232Y	probably benign	Het
Oxt	A	T	2: 130,576,300	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,695,930	S2248P	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pkp2	T	C	16: 16,262,697	S616P	probably damaging	Het
Plch2	T	C	4: 155,000,083	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,154,159	N540D	probably benign	Het
Ptpn23	G	A	9: 110,391,678	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,972,307	N237D	probably benign	Het
Ryr3	A	C	2: 112,751,768		probably null	Het
Sgk1	C	A	10: 21,997,108		probably benign	Het
Slc1a5	G	T	7: 16,797,539	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,919,464	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,919,466	Y478*	probably null	Het
Slc9a3	A	T	13: 74,163,071	M562L	probably benign	Het
Thsd7a	G	A	6: 12,555,715	R57*	probably null	Het
Tiam1	T	C	16: 89,860,279	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,724,366	S47P	probably damaging	Het
Trim39	C	T	17: 36,263,940	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,035,073	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,965,721	T3304A	probably benign	Het
Wdr35	A	C	12: 9,012,728	D638A	probably damaging	Het
Wwc1	G	T	11: 35,861,844	P797T	probably benign	Het
Zan	T	A	5: 137,464,518	T800S	unknown	Het
Zbbx	A	G	3: 75,083,619		probably benign	Het
Zufsp	T	C	10: 33,935,176	M291V	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
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
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
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
R9660:Mei1	UTSW	15	82081897	missense
R9689:Mei1	UTSW	15	82112928	missense
R9728:Mei1	UTSW	15	82081897	missense
RF051:Mei1	UTSW	15	82070010	frame shift	probably null

Predicted Primers

Posted On

2015-02-05