Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Mei1'

597643

Institutional Source

Beutler Lab

Gene Symbol

Mei1

Ensembl Gene

ENSMUSG00000068117

Gene Name

meiotic double-stranded break formation protein 1

Synonyms

mei1

MMRRC Submission

045813-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

R7757 (G1)

Quality Score

153.009

Status

Validated

Chromosome

Chromosomal Location

82069996-82126814 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 82082623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154974 (fasta)

Gene Model

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

AlphaFold

Q9D4I2

Predicted Effect

probably benign
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 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

probably benign
Transcript: ENSMUST00000229119

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,189,413 (GRCm38)	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431 (GRCm38)	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166 (GRCm38)	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278 (GRCm38)	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158 (GRCm38)		probably null	Het
Bche	T	A	3: 73,701,121 (GRCm38)	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740 (GRCm38)	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821 (GRCm38)	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434 (GRCm38)	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467 (GRCm38)	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822 (GRCm38)	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272 (GRCm38)	T103S	possibly damaging	Het
Cplane1	A	T	15: 8,252,227 (GRCm38)	E2850V	unknown	Het
Cpne9	G	A	6: 113,284,445 (GRCm38)	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456 (GRCm38)	I2043N		Het
Disc1	A	G	8: 125,087,504 (GRCm38)	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910 (GRCm38)	Y708H	probably damaging	Het
Dnah3	A	T	7: 119,971,215 (GRCm38)		probably null	Het
Dnah3	A	G	7: 120,071,570 (GRCm38)	V635A	probably benign	Het
Dync1li1	A	G	9: 114,709,277 (GRCm38)	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966 (GRCm38)	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719 (GRCm38)	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421 (GRCm38)	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503 (GRCm38)		probably null	Het
Ginm1	A	T	10: 7,779,355 (GRCm38)	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433 (GRCm38)		probably benign	Het
Gm49368	C	T	7: 128,112,226 (GRCm38)	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208 (GRCm38)	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344 (GRCm38)	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451 (GRCm38)	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915 (GRCm38)	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237 (GRCm38)	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981 (GRCm38)	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522 (GRCm38)	K637*	probably null	Het
Jak2	T	C	19: 29,283,546 (GRCm38)	V314A	probably benign	Het
Mill1	T	C	7: 18,262,466 (GRCm38)	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884 (GRCm38)		probably null	Het
Mup8	T	A	4: 60,220,333 (GRCm38)	Q133L	probably benign	Het
Mup8	C	A	4: 60,220,332 (GRCm38)	Q133H	probably benign	Het
Mycbp2	A	T	14: 103,191,619 (GRCm38)	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450 (GRCm38)	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196 (GRCm38)	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898 (GRCm38)	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561 (GRCm38)	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995 (GRCm38)	S145P	probably benign	Het
Or10d1	A	G	9: 39,572,465 (GRCm38)	W265R	probably benign	Het
Or4c117	T	C	2: 89,124,989 (GRCm38)	I247M	possibly damaging	Het
Osbpl1a	A	T	18: 12,933,600 (GRCm38)	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921 (GRCm38)	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834 (GRCm38)	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151 (GRCm38)		probably benign	Het
Pkhd1	A	G	1: 20,562,415 (GRCm38)	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376 (GRCm38)	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236 (GRCm38)	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695 (GRCm38)	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087 (GRCm38)	E117V	possibly damaging	Het
Septin11	A	T	5: 93,171,464 (GRCm38)		probably null	Het
Shprh	A	T	10: 11,162,180 (GRCm38)	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973 (GRCm38)	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660 (GRCm38)	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839 (GRCm38)	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013 (GRCm38)	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165 (GRCm38)	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585 (GRCm38)	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794 (GRCm38)	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943 (GRCm38)		probably null	Het
Stox1	T	C	10: 62,663,964 (GRCm38)	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779 (GRCm38)	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858 (GRCm38)	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008 (GRCm38)	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490 (GRCm38)	T4072A	probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341 (GRCm38)		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330 (GRCm38)		probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm38)		probably benign	Het
Vmn2r43	A	T	7: 8,255,254 (GRCm38)	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278 (GRCm38)	G204*	probably null	Het

Other mutations in Mei1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Mei1	APN	15	82,089,552 (GRCm38)	missense	probably damaging	0.99
IGL01776:Mei1	APN	15	82,095,932 (GRCm38)	critical splice donor site	probably null
IGL01864:Mei1	APN	15	82,113,017 (GRCm38)	splice site	probably benign
IGL02030:Mei1	APN	15	82,115,743 (GRCm38)	missense	probably benign
IGL02148:Mei1	APN	15	82,092,711 (GRCm38)	nonsense	probably null
R0135:Mei1	UTSW	15	82,071,969 (GRCm38)	nonsense	probably null
R0212:Mei1	UTSW	15	82,095,931 (GRCm38)	critical splice donor site	probably null
R0537:Mei1	UTSW	15	82,091,361 (GRCm38)	missense	possibly damaging	0.93
R0605:Mei1	UTSW	15	82,070,150 (GRCm38)	missense	probably benign
R0727:Mei1	UTSW	15	82,070,149 (GRCm38)	missense	probably benign	0.01
R1118:Mei1	UTSW	15	82,115,867 (GRCm38)	splice site	probably benign
R1226:Mei1	UTSW	15	82,080,084 (GRCm38)	missense	possibly damaging	0.92
R1339:Mei1	UTSW	15	82,081,995 (GRCm38)	missense	possibly damaging	0.66
R1558:Mei1	UTSW	15	82,107,133 (GRCm38)	missense	probably damaging	1.00
R1769:Mei1	UTSW	15	82,112,570 (GRCm38)	splice site	probably null
R1868:Mei1	UTSW	15	82,124,953 (GRCm38)	missense	probably damaging	1.00
R1980:Mei1	UTSW	15	82,103,312 (GRCm38)	missense	probably benign	0.00
R1981:Mei1	UTSW	15	82,103,312 (GRCm38)	missense	probably benign	0.00
R1982:Mei1	UTSW	15	82,103,312 (GRCm38)	missense	probably benign	0.00
R2103:Mei1	UTSW	15	82,107,036 (GRCm38)	missense	probably damaging	0.99
R2103:Mei1	UTSW	15	82,103,204 (GRCm38)	missense	possibly damaging	0.91
R2207:Mei1	UTSW	15	82,103,249 (GRCm38)	missense	probably benign	0.08
R2444:Mei1	UTSW	15	82,112,941 (GRCm38)	missense	probably damaging	1.00
R3009:Mei1	UTSW	15	82,112,525 (GRCm38)	missense	probably damaging	0.97
R3114:Mei1	UTSW	15	82,124,959 (GRCm38)	missense	probably benign	0.31
R3546:Mei1	UTSW	15	82,098,042 (GRCm38)	missense	probably damaging	0.97
R3720:Mei1	UTSW	15	82,103,204 (GRCm38)	missense	possibly damaging	0.91
R3721:Mei1	UTSW	15	82,103,204 (GRCm38)	missense	possibly damaging	0.91
R3722:Mei1	UTSW	15	82,103,204 (GRCm38)	missense	possibly damaging	0.91
R3752:Mei1	UTSW	15	82,086,182 (GRCm38)	missense	probably damaging	0.97
R3778:Mei1	UTSW	15	82,082,008 (GRCm38)	missense	probably damaging	1.00
R3848:Mei1	UTSW	15	82,113,017 (GRCm38)	splice site	probably benign
R3933:Mei1	UTSW	15	82,083,152 (GRCm38)	missense	possibly damaging	0.75
R4274:Mei1	UTSW	15	82,124,863 (GRCm38)	missense	possibly damaging	0.66
R4765:Mei1	UTSW	15	82,112,485 (GRCm38)	missense	possibly damaging	0.96
R5070:Mei1	UTSW	15	82,077,603 (GRCm38)	missense	possibly damaging	0.66
R5394:Mei1	UTSW	15	82,092,756 (GRCm38)	missense	possibly damaging	0.83
R6108:Mei1	UTSW	15	82,075,188 (GRCm38)	missense	possibly damaging	0.66
R6302:Mei1	UTSW	15	82,103,238 (GRCm38)	nonsense	probably null
R6849:Mei1	UTSW	15	82,079,945 (GRCm38)	missense	possibly damaging	0.92
R6913:Mei1	UTSW	15	82,089,609 (GRCm38)	missense	probably benign	0.06
R6919:Mei1	UTSW	15	82,081,930 (GRCm38)	missense	probably damaging	0.98
R6959:Mei1	UTSW	15	82,124,875 (GRCm38)	missense	probably benign	0.01
R7007:Mei1	UTSW	15	82,093,999 (GRCm38)	missense	probably damaging	0.99
R7202:Mei1	UTSW	15	82,092,642 (GRCm38)	missense
R7374:Mei1	UTSW	15	82,095,908 (GRCm38)	missense
R7438:Mei1	UTSW	15	82,115,481 (GRCm38)	missense
R7857:Mei1	UTSW	15	82,092,717 (GRCm38)	missense	not run
R8265:Mei1	UTSW	15	82,103,307 (GRCm38)	nonsense	probably null
R8728:Mei1	UTSW	15	82,081,981 (GRCm38)	missense
R8902:Mei1	UTSW	15	82,070,011 (GRCm38)	missense	unknown
R9048:Mei1	UTSW	15	82,084,835 (GRCm38)	nonsense	probably null
R9233:Mei1	UTSW	15	82,089,551 (GRCm38)	missense
R9285:Mei1	UTSW	15	82,100,969 (GRCm38)	missense
R9660:Mei1	UTSW	15	82,081,897 (GRCm38)	missense
R9689:Mei1	UTSW	15	82,112,928 (GRCm38)	missense
R9728:Mei1	UTSW	15	82,081,897 (GRCm38)	missense
RF051:Mei1	UTSW	15	82,070,010 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTCAAAGTGGGGTCGCATAG -3'
(R):5'- AACACAGGGATTCAGGATTCTG -3'

Sequencing Primer
(F):5'- ATAGGGCGTTACAGCTCCTC -3'
(R):5'- CACCAGGAGAGTAGATCCCTTTG -3'

Posted On

2019-11-26