Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02030:Mei1'

184340

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: 0.393) question?

Stock #

IGL02030

Quality Score

Status

Chromosome

Chromosomal Location

81954275-82011018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81999944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1127 (V1127A)

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: V1071A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: V1071A

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: V697A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: V697A

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: V697A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: V697A

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
AA Change: V1127A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,894 (GRCm39)	D532G	probably benign	Het
Adam29	C	T	8: 56,325,157 (GRCm39)	M432I	probably benign	Het
Cbs	A	G	17: 31,844,463 (GRCm39)		probably null	Het
Ccer1	A	G	10: 97,529,472 (GRCm39)	Y45C	unknown	Het
Clu	G	A	14: 66,213,240 (GRCm39)	G209S	probably benign	Het
Ddx17	T	C	15: 79,414,577 (GRCm39)	D530G	probably benign	Het
Ddx4	T	C	13: 112,761,311 (GRCm39)		probably benign	Het
Fry	C	T	5: 150,395,083 (GRCm39)		probably benign	Het
Fut10	C	T	8: 31,726,006 (GRCm39)	Q254*	probably null	Het
Gucy2e	A	G	11: 69,114,642 (GRCm39)	F1002S	probably damaging	Het
Hsd3b6	T	C	3: 98,713,489 (GRCm39)	Y270C	probably benign	Het
Jup	A	G	11: 100,267,817 (GRCm39)	I502T	probably damaging	Het
Lrrc71	T	A	3: 87,652,531 (GRCm39)		probably null	Het
Ncstn	A	T	1: 171,900,024 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,092,042 (GRCm39)	R756G	probably damaging	Het
Notch2	C	A	3: 98,006,737 (GRCm39)		probably null	Het
Oacyl	T	C	18: 65,870,981 (GRCm39)	V394A	probably damaging	Het
Or1j19	A	G	2: 36,677,410 (GRCm39)	Y291C	probably damaging	Het
Or5b21	T	C	19: 12,839,799 (GRCm39)	F220S	probably benign	Het
Or6b13	A	G	7: 139,782,545 (GRCm39)	I46T	probably damaging	Het
Parn	A	G	16: 13,482,514 (GRCm39)		probably null	Het
Rspo3	T	G	10: 29,376,044 (GRCm39)	E173A	probably damaging	Het
Rusc2	T	A	4: 43,416,095 (GRCm39)	V467E	possibly damaging	Het
Sema7a	G	A	9: 57,862,423 (GRCm39)	E209K	possibly damaging	Het
Uchl4	T	C	9: 64,142,911 (GRCm39)	S131P	probably benign	Het
Usp54	T	C	14: 20,616,014 (GRCm39)	I769V	probably benign	Het
Xirp2	T	C	2: 67,339,325 (GRCm39)	M522T	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
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

2014-05-07