Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01776:Mei1'

153871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mei1

Ensembl Gene

ENSMUSG00000068117

Gene Name

meiotic double-stranded break formation protein 1

Synonyms

mei1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

IGL01776

Quality Score

Status

Chromosome

Chromosomal Location

81954275-82011018 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 81980133 bp (GRCm39)

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 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

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	A	5: 90,431,223 (GRCm39)	Q854*	probably null	Het
Armc8	A	G	9: 99,408,936 (GRCm39)		probably benign	Het
Chrna7	A	G	7: 62,749,267 (GRCm39)	V405A	probably benign	Het
Col8a2	C	A	4: 126,203,598 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,330,938 (GRCm39)	I91V	possibly damaging	Het
Dock7	T	A	4: 98,829,178 (GRCm39)	R2069S	possibly damaging	Het
Gm7247	A	G	14: 51,759,356 (GRCm39)	S112G	possibly damaging	Het
Hmcn1	T	G	1: 150,547,789 (GRCm39)	T2721P	possibly damaging	Het
Hsd3b3	T	C	3: 98,651,163 (GRCm39)	T96A	probably benign	Het
Ifi207	G	A	1: 173,552,610 (GRCm39)	L936F	probably damaging	Het
Kcp	G	A	6: 29,497,907 (GRCm39)	P477S	probably damaging	Het
Mgmt	T	A	7: 136,723,293 (GRCm39)	L121*	probably null	Het
Mrps35	G	A	6: 146,972,214 (GRCm39)	V286I	probably benign	Het
Naxd	T	C	8: 11,555,525 (GRCm39)		probably null	Het
Pam	A	G	1: 97,813,325 (GRCm39)		probably null	Het
Plcxd1	G	A	5: 110,249,246 (GRCm39)		probably benign	Het
Rasgrp1	A	G	2: 117,117,321 (GRCm39)		probably null	Het
Spag9	C	T	11: 94,007,553 (GRCm39)		probably benign	Het
Spire2	T	C	8: 124,086,131 (GRCm39)	S288P	probably damaging	Het
Stk11ip	T	C	1: 75,504,465 (GRCm39)	V322A	probably benign	Het
Syt17	A	C	7: 118,009,176 (GRCm39)	L343R	probably damaging	Het
Tap1	G	A	17: 34,412,102 (GRCm39)	V436I	possibly damaging	Het
Virma	C	T	4: 11,527,792 (GRCm39)	R1228C	probably damaging	Het

Other mutations in Mei1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Mei1	APN	15	81,973,753 (GRCm39)	missense	probably damaging	0.99
IGL01864:Mei1	APN	15	81,997,218 (GRCm39)	splice site	probably benign
IGL02030:Mei1	APN	15	81,999,944 (GRCm39)	missense	probably benign
IGL02148:Mei1	APN	15	81,976,912 (GRCm39)	nonsense	probably null
R0135:Mei1	UTSW	15	81,956,170 (GRCm39)	nonsense	probably null
R0212:Mei1	UTSW	15	81,980,132 (GRCm39)	critical splice donor site	probably null
R0537:Mei1	UTSW	15	81,975,562 (GRCm39)	missense	possibly damaging	0.93
R0605:Mei1	UTSW	15	81,954,351 (GRCm39)	missense	probably benign
R0727:Mei1	UTSW	15	81,954,350 (GRCm39)	missense	probably benign	0.01
R1118:Mei1	UTSW	15	82,000,068 (GRCm39)	splice site	probably benign
R1226:Mei1	UTSW	15	81,964,285 (GRCm39)	missense	possibly damaging	0.92
R1339:Mei1	UTSW	15	81,966,196 (GRCm39)	missense	possibly damaging	0.66
R1558:Mei1	UTSW	15	81,991,334 (GRCm39)	missense	probably damaging	1.00
R1769:Mei1	UTSW	15	81,996,771 (GRCm39)	splice site	probably null
R1868:Mei1	UTSW	15	82,009,154 (GRCm39)	missense	probably damaging	1.00
R1980:Mei1	UTSW	15	81,987,513 (GRCm39)	missense	probably benign	0.00
R1981:Mei1	UTSW	15	81,987,513 (GRCm39)	missense	probably benign	0.00
R1982:Mei1	UTSW	15	81,987,513 (GRCm39)	missense	probably benign	0.00
R2103:Mei1	UTSW	15	81,991,237 (GRCm39)	missense	probably damaging	0.99
R2103:Mei1	UTSW	15	81,987,405 (GRCm39)	missense	possibly damaging	0.91
R2207:Mei1	UTSW	15	81,987,450 (GRCm39)	missense	probably benign	0.08
R2444:Mei1	UTSW	15	81,997,142 (GRCm39)	missense	probably damaging	1.00
R3009:Mei1	UTSW	15	81,996,726 (GRCm39)	missense	probably damaging	0.97
R3114:Mei1	UTSW	15	82,009,160 (GRCm39)	missense	probably benign	0.31
R3546:Mei1	UTSW	15	81,982,243 (GRCm39)	missense	probably damaging	0.97
R3720:Mei1	UTSW	15	81,987,405 (GRCm39)	missense	possibly damaging	0.91
R3721:Mei1	UTSW	15	81,987,405 (GRCm39)	missense	possibly damaging	0.91
R3722:Mei1	UTSW	15	81,987,405 (GRCm39)	missense	possibly damaging	0.91
R3752:Mei1	UTSW	15	81,970,383 (GRCm39)	missense	probably damaging	0.97
R3778:Mei1	UTSW	15	81,966,209 (GRCm39)	missense	probably damaging	1.00
R3848:Mei1	UTSW	15	81,997,218 (GRCm39)	splice site	probably benign
R3933:Mei1	UTSW	15	81,967,353 (GRCm39)	missense	possibly damaging	0.75
R4274:Mei1	UTSW	15	82,009,064 (GRCm39)	missense	possibly damaging	0.66
R4765:Mei1	UTSW	15	81,996,686 (GRCm39)	missense	possibly damaging	0.96
R5070:Mei1	UTSW	15	81,961,804 (GRCm39)	missense	possibly damaging	0.66
R5394:Mei1	UTSW	15	81,976,957 (GRCm39)	missense	possibly damaging	0.83
R6108:Mei1	UTSW	15	81,959,389 (GRCm39)	missense	possibly damaging	0.66
R6302:Mei1	UTSW	15	81,987,439 (GRCm39)	nonsense	probably null
R6849:Mei1	UTSW	15	81,964,146 (GRCm39)	missense	possibly damaging	0.92
R6913:Mei1	UTSW	15	81,973,810 (GRCm39)	missense	probably benign	0.06
R6919:Mei1	UTSW	15	81,966,131 (GRCm39)	missense	probably damaging	0.98
R6959:Mei1	UTSW	15	82,009,076 (GRCm39)	missense	probably benign	0.01
R7007:Mei1	UTSW	15	81,978,200 (GRCm39)	missense	probably damaging	0.99
R7202:Mei1	UTSW	15	81,976,843 (GRCm39)	missense
R7374:Mei1	UTSW	15	81,980,109 (GRCm39)	missense
R7438:Mei1	UTSW	15	81,999,682 (GRCm39)	missense
R7757:Mei1	UTSW	15	81,966,824 (GRCm39)	intron	probably benign
R7857:Mei1	UTSW	15	81,976,918 (GRCm39)	missense	not run
R8265:Mei1	UTSW	15	81,987,508 (GRCm39)	nonsense	probably null
R8728:Mei1	UTSW	15	81,966,182 (GRCm39)	missense
R8902:Mei1	UTSW	15	81,954,212 (GRCm39)	missense	unknown
R9048:Mei1	UTSW	15	81,969,036 (GRCm39)	nonsense	probably null
R9233:Mei1	UTSW	15	81,973,752 (GRCm39)	missense
R9285:Mei1	UTSW	15	81,985,170 (GRCm39)	missense
R9660:Mei1	UTSW	15	81,966,098 (GRCm39)	missense
R9689:Mei1	UTSW	15	81,997,129 (GRCm39)	missense
R9728:Mei1	UTSW	15	81,966,098 (GRCm39)	missense
RF051:Mei1	UTSW	15	81,954,211 (GRCm39)	frame shift	probably null

Posted On

2014-02-04