Mutagenetix > Incidental Mutation

Incidental Mutation 'R7509:Mei4'

581965

Institutional Source

Beutler Lab

Gene Symbol

Mei4

Ensembl Gene

ENSMUSG00000043289

Gene Name

meiotic double-stranded break formation protein 4

Synonyms

4930486G11Rik

MMRRC Submission

045582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81745723-82088060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81907630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 320 (L320Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057067] [ENSMUST00000189391] [ENSMUST00000189832]

AlphaFold

Q8BRM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057067
AA Change: L320Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061341
Gene: ENSMUSG00000043289
AA Change: L320Q

Domain	Start	End	E-Value	Type
Pfam:Mei4	1	378	9.3e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189391
AA Change: L221Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139589
Gene: ENSMUSG00000043289
AA Change: L221Q

Domain	Start	End	E-Value	Type
Pfam:Mei4	1	280	2.5e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189832

SMART Domains

Protein: ENSMUSP00000140647
Gene: ENSMUSG00000043289

Domain	Start	End	E-Value	Type
Pfam:Mei4	1	306	3.8e-112	PFAM

Meta Mutation Damage Score

0.1543

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show meiotic defects including failure of double strand break formation and homologous synapsis. Mutant spermatocytes appear to arrest at a zygotene-like stage and undergo apoptosis while mutant ovaries show a nearly complete loss of follicles at adulthood. [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
Acsm5	A	G	7: 119,133,611 (GRCm39)	S259G	probably benign	Het
Adamts16	G	T	13: 70,935,283 (GRCm39)	N436K	probably damaging	Het
Asb3	T	A	11: 30,948,507 (GRCm39)	M61K	probably benign	Het
Catspere2	A	G	1: 177,905,078 (GRCm39)	T163A	possibly damaging	Het
Ccser2	A	G	14: 36,660,602 (GRCm39)	L517P	probably damaging	Het
Cd226	A	G	18: 89,265,195 (GRCm39)	T158A	probably benign	Het
Chd6	A	T	2: 160,855,074 (GRCm39)	I778N	probably damaging	Het
Cnga4	T	C	7: 105,056,097 (GRCm39)	V336A	probably benign	Het
Cpd	C	T	11: 76,688,702 (GRCm39)	V857I	probably benign	Het
Cpm	A	G	10: 117,495,745 (GRCm39)	Y78C	probably damaging	Het
Cst7	A	T	2: 150,419,624 (GRCm39)	T97S	probably benign	Het
Cttnbp2nl	T	C	3: 104,940,046 (GRCm39)	K8E	possibly damaging	Het
Erbb4	A	T	1: 68,289,739 (GRCm39)	D767E	possibly damaging	Het
Esyt2	T	C	12: 116,329,496 (GRCm39)	S685P	probably damaging	Het
Fam110d	A	C	4: 133,979,424 (GRCm39)	V18G	probably damaging	Het
Gcfc2	T	C	6: 81,930,256 (GRCm39)	L641P	probably damaging	Het
Gcnt4	T	A	13: 97,083,678 (GRCm39)	F325I	probably benign	Het
Glg1	T	G	8: 111,985,675 (GRCm39)	S52R	probably benign	Het
Gm10577	G	A	4: 100,877,848 (GRCm39)	L16F	unknown	Het
Gm14326	C	T	2: 177,587,493 (GRCm39)	G501D	probably benign	Het
Gm1587	G	A	14: 78,034,464 (GRCm39)	P35S	unknown	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Helb	T	A	10: 119,925,719 (GRCm39)	H886L	probably damaging	Het
Hgsnat	A	G	8: 26,445,754 (GRCm39)	V380A	probably damaging	Het
Hmbs	T	A	9: 44,248,208 (GRCm39)	R125S		Het
Hsd17b4	A	T	18: 50,297,749 (GRCm39)	Y346F	probably damaging	Het
Inpp4a	T	C	1: 37,426,911 (GRCm39)	L624P	probably damaging	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Itga11	C	T	9: 62,689,222 (GRCm39)	T1129I	probably benign	Het
Itih4	G	A	14: 30,617,404 (GRCm39)	V575I	probably benign	Het
Kcnn2	A	G	18: 45,816,187 (GRCm39)	T473A	probably benign	Het
Kidins220	T	C	12: 25,032,360 (GRCm39)	V31A	probably damaging	Het
Lrch1	G	A	14: 75,185,048 (GRCm39)	T18I	probably benign	Het
Ly6e	T	C	15: 74,830,135 (GRCm39)	F30L	probably damaging	Het
Med13l	A	G	5: 118,886,995 (GRCm39)	D1632G	probably damaging	Het
Mlip	T	G	9: 77,088,678 (GRCm39)	T197P	probably damaging	Het
Mon2	G	A	10: 122,868,457 (GRCm39)	A532V	probably benign	Het
Myh1	C	T	11: 67,101,287 (GRCm39)	P688S	probably benign	Het
Ncapg	G	A	5: 45,853,450 (GRCm39)	D900N	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Ntn4	A	G	10: 93,546,430 (GRCm39)	N361S	probably benign	Het
Nudt16l1	T	A	16: 4,757,082 (GRCm39)	H26Q	probably damaging	Het
Obscn	G	A	11: 58,942,455 (GRCm39)	T4348I	probably benign	Het
Or10d4b	T	A	9: 39,534,623 (GRCm39)	I66N	probably damaging	Het
Or8c20	T	A	9: 38,260,868 (GRCm39)	M157K	probably benign	Het
Pcdh7	T	A	5: 57,877,529 (GRCm39)	D361E	probably damaging	Het
Pcdhb7	C	A	18: 37,475,074 (GRCm39)	T70K	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,910 (GRCm39)	Y454*	probably null	Het
Pigc	A	T	1: 161,798,545 (GRCm39)	T176S	probably benign	Het
Pola2	A	T	19: 6,011,194 (GRCm39)	S43R	probably benign	Het
Pole	A	T	5: 110,478,571 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,880,705 (GRCm39)	D956E	probably benign	Het
Polq	T	A	16: 36,880,706 (GRCm39)	C957S	probably benign	Het
Ppp3cc	G	A	14: 70,504,131 (GRCm39)	T107I	probably damaging	Het
Prss39	C	A	1: 34,539,280 (GRCm39)	H173Q	possibly damaging	Het
Reep4	A	G	14: 70,785,928 (GRCm39)	D256G	probably benign	Het
Rfc3	A	G	5: 151,570,975 (GRCm39)	V107A	probably damaging	Het
Slc19a3	A	G	1: 83,003,981 (GRCm39)	L40P	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Strada	C	A	11: 106,077,920 (GRCm39)	V15F	unknown	Het
Suco	A	T	1: 161,672,903 (GRCm39)	S440T	probably damaging	Het
Svep1	A	T	4: 58,090,683 (GRCm39)	C1595S	probably benign	Het
Synpo	G	T	18: 60,736,566 (GRCm39)	T460K	probably damaging	Het
Tagap	A	T	17: 8,147,568 (GRCm39)	I93F	probably damaging	Het
Tmtc3	A	T	10: 100,301,956 (GRCm39)	F331Y	probably damaging	Het
Tnpo1	A	C	13: 99,006,751 (GRCm39)	I225M	probably benign	Het
Tollip	A	T	7: 141,445,878 (GRCm39)	M70K	probably benign	Het
Trpm7	A	T	2: 126,691,842 (GRCm39)	I171N	probably damaging	Het
Ttc41	G	T	10: 86,549,296 (GRCm39)	E163D	probably damaging	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Vmn2r20	C	T	6: 123,362,382 (GRCm39)	V801I	probably benign	Het
Vmn2r82	G	A	10: 79,231,842 (GRCm39)	V614I	possibly damaging	Het
Vmn2r96	G	A	17: 18,802,995 (GRCm39)	E302K	probably benign	Het
Vwf	T	C	6: 125,619,132 (GRCm39)	F1270S		Het
Wdr3	A	T	3: 100,058,503 (GRCm39)	F367L	probably benign	Het
Zfp592	A	G	7: 80,688,088 (GRCm39)	S1005G	probably damaging	Het

Other mutations in Mei4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Mei4	APN	9	81,772,235 (GRCm39)	missense	probably damaging	1.00
LCD18:Mei4	UTSW	9	82,069,012 (GRCm39)	intron	probably benign
R0069:Mei4	UTSW	9	81,907,635 (GRCm39)	nonsense	probably null
R1525:Mei4	UTSW	9	81,772,252 (GRCm39)	missense	probably damaging	1.00
R1605:Mei4	UTSW	9	81,809,639 (GRCm39)	missense	possibly damaging	0.80
R1779:Mei4	UTSW	9	81,809,195 (GRCm39)	missense	probably damaging	1.00
R3913:Mei4	UTSW	9	81,772,316 (GRCm39)	missense	probably benign	0.04
R3941:Mei4	UTSW	9	81,809,336 (GRCm39)	missense	probably benign
R4687:Mei4	UTSW	9	81,809,370 (GRCm39)	missense	probably damaging	1.00
R4917:Mei4	UTSW	9	81,772,216 (GRCm39)	missense	probably benign	0.02
R4918:Mei4	UTSW	9	81,772,216 (GRCm39)	missense	probably benign	0.02
R5785:Mei4	UTSW	9	81,907,600 (GRCm39)	missense	probably damaging	1.00
R6158:Mei4	UTSW	9	81,809,629 (GRCm39)	missense	probably damaging	1.00
R6736:Mei4	UTSW	9	81,907,677 (GRCm39)	missense	probably benign
R6818:Mei4	UTSW	9	81,907,574 (GRCm39)	missense	probably benign	0.00
R7147:Mei4	UTSW	9	81,809,649 (GRCm39)	missense	probably damaging	1.00
R7445:Mei4	UTSW	9	81,772,292 (GRCm39)	missense	possibly damaging	0.78
R8164:Mei4	UTSW	9	81,809,642 (GRCm39)	missense	probably damaging	0.98
R8506:Mei4	UTSW	9	81,861,291 (GRCm39)	missense	probably benign	0.17
R8559:Mei4	UTSW	9	81,907,684 (GRCm39)	missense	probably benign
R8678:Mei4	UTSW	9	81,809,638 (GRCm39)	missense	probably damaging	1.00
R8708:Mei4	UTSW	9	81,809,595 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACCAATCAAAGATGCAGGG -3'
(R):5'- CCGCTAAGGCAACGATTCATTC -3'

Sequencing Primer
(F):5'- CACCAATCAAAGATGCAGGGAGATAG -3'
(R):5'- CCATCTCTGCTGAGTTCAAGAG -3'

Posted On

2019-10-17