Mutagenetix > Incidental Mutation

Incidental Mutation 'R3009:Mei1'

257465

Institutional Source

Beutler Lab

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 #

R3009 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

81954275-82011018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81996726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 585 (H585R)

Ref Sequence

ENSEMBL: ENSMUSP00000140479 (fasta)

Gene Model

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

AlphaFold

Q9D4I2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089178
AA Change: H959R

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: H959R

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 damaging
Transcript: ENSMUST00000188048
AA Change: H585R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: H585R

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: ENSMUST00000189540
AA Change: H585R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: H585R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229119
AA Change: H1015R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,307,891 (GRCm39)	D1567G	probably benign	Het
Bmp3	T	C	5: 99,027,696 (GRCm39)	S439P	probably damaging	Het
Btnl2	C	T	17: 34,582,492 (GRCm39)	R353C	probably damaging	Het
Galc	T	C	12: 98,170,228 (GRCm39)	D676G	probably damaging	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Gprc6a	T	C	10: 51,504,392 (GRCm39)	T151A	probably benign	Het
Limk2	A	G	11: 3,309,046 (GRCm39)	I104T	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mtfr1	A	T	3: 19,269,750 (GRCm39)	T133S	probably benign	Het
Or12k8	T	C	2: 36,975,089 (GRCm39)	I224V	probably benign	Het
Or5h22	A	G	16: 58,895,350 (GRCm39)	V31A	probably benign	Het
Or6b13	T	C	7: 139,782,669 (GRCm39)	R5G	probably benign	Het
Or8k35	T	C	2: 86,424,714 (GRCm39)	T153A	probably benign	Het
Prkg1	G	A	19: 31,641,512 (GRCm39)	T57I	possibly damaging	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Urb1	A	G	16: 90,571,686 (GRCm39)	I1041T	probably benign	Het
Vmn2r72	A	T	7: 85,398,850 (GRCm39)	M501K	probably benign	Het
Vmn2r91	G	A	17: 18,325,717 (GRCm39)	V112I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCATATGACTTTGTTCCGAC -3'
(R):5'- AGGCACTTCGTACATTGACG -3'

Sequencing Primer
(F):5'- CTTACAGGATCAGAGGCTCAGTTC -3'
(R):5'- CAACATCCTCTTCAATGACTC -3'

Posted On

2015-01-11