Mutagenetix > Incidental Mutation

Incidental Mutation 'R3546:Mei1'

268212

Institutional Source

Beutler Lab

Gene Symbol

Mei1

Ensembl Gene

ENSMUSG00000068117

Gene Name

meiotic double-stranded break formation protein 1

Synonyms

mei1

MMRRC Submission

040665-MU

Accession Numbers

Essential gene?

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

Stock #

R3546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81954275-82011018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81982243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 677 (Y677C)

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
AA Change: Y627C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: Y627C

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
AA Change: Y253C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: Y253C

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
AA Change: Y253C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: Y253C

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 damaging
Transcript: ENSMUST00000229119
AA Change: Y677C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.1815

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (31/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,668,926 (GRCm39)		probably benign	Het
Bves	A	G	10: 45,230,907 (GRCm39)	R293G	probably damaging	Het
Ceacam1	T	C	7: 25,171,339 (GRCm39)	N375S	probably benign	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Cyth1	A	G	11: 118,083,262 (GRCm39)	V46A	probably damaging	Het
Ddx23	G	A	15: 98,548,613 (GRCm39)	T365M	probably damaging	Het
Etaa1	A	G	11: 17,903,823 (GRCm39)		probably benign	Het
Fap	A	C	2: 62,349,355 (GRCm39)	L478R	probably damaging	Het
Golga7b	T	C	19: 42,255,510 (GRCm39)	M129T	possibly damaging	Het
Hdac7	G	T	15: 97,705,890 (GRCm39)	Q361K	probably damaging	Het
Itk	A	G	11: 46,246,675 (GRCm39)	L181P	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Khdc4	A	G	3: 88,600,443 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Mslnl	T	C	17: 25,963,943 (GRCm39)	V424A	probably damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or6b13	A	G	7: 139,782,014 (GRCm39)	I223T	probably damaging	Het
Pdilt	C	A	7: 119,099,711 (GRCm39)	E186*	probably null	Het
Ppp1r27	T	A	11: 120,441,511 (GRCm39)	I90F	probably damaging	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Sult6b1	G	A	17: 79,214,336 (GRCm39)	T29I	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ush1g	T	A	11: 115,209,723 (GRCm39)	H157L	probably damaging	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly 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
IGL01776:Mei1	APN	15	81,980,133 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGCAGCTGGTTACATATTTAC -3'
(R):5'- CCATCAATGTAGTGTAAGCCAAG -3'

Sequencing Primer
(F):5'- ATGTTTGTGTGTATGCCTACTTTTC -3'
(R):5'- TAGTGTAAGCCAAGAGGTCTCCC -3'

Posted On

2015-02-19