Mutagenetix > Incidental Mutation

Incidental Mutation 'R8000:Frey1'

616308

Institutional Source

Beutler Lab

Gene Symbol

Frey1

Ensembl Gene

ENSMUSG00000044916

Gene Name

Frey regulator of sperm-oocyte fusion 1

Synonyms

1700029I15Rik

MMRRC Submission

046040-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92213263-92213948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92215872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 69 (K69E)

Ref Sequence

ENSEMBL: ENSMUSP00000106911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028650] [ENSMUST00000050312] [ENSMUST00000054316] [ENSMUST00000111279] [ENSMUST00000111280] [ENSMUST00000191292]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028650

SMART Domains

Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222

Domain	Start	End	E-Value	Type
Pfam:Pex16	9	329	1.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050312

SMART Domains

Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
low complexity region	38	51	N/A	INTRINSIC
low complexity region	71	87	N/A	INTRINSIC
low complexity region	98	119	N/A	INTRINSIC
low complexity region	242	254	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
SH3	487	544	2.62e-11	SMART
PTB	558	700	1.2e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054316

SMART Domains

Protein: ENSMUSP00000051464
Gene: ENSMUSG00000044916

Domain	Start	End	E-Value	Type
Pfam:DUF4733	4	97	7.7e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111279

SMART Domains

Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
low complexity region	62	78	N/A	INTRINSIC
low complexity region	89	110	N/A	INTRINSIC
low complexity region	233	245	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
SH3	478	535	2.62e-11	SMART
PTB	549	691	1.2e-43	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000111280
AA Change: K69E

SMART Domains

Protein: ENSMUSP00000106911
Gene: ENSMUSG00000044916
AA Change: K69E

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191292

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,924,796 (GRCm39)	K121R	possibly damaging	Het
Acaca	A	G	11: 84,283,057 (GRCm39)	K2208E	possibly damaging	Het
Actn1	A	G	12: 80,245,782 (GRCm39)	F134L	probably damaging	Het
Akt3	A	T	1: 176,877,763 (GRCm39)	V335D	probably damaging	Het
Arhgef10	T	G	8: 14,980,054 (GRCm39)	I98S	probably damaging	Het
Celf4	T	C	18: 25,637,574 (GRCm39)	N209S	probably benign	Het
Col4a4	G	A	1: 82,519,018 (GRCm39)	P59L	unknown	Het
Dmwd	C	T	7: 18,814,660 (GRCm39)	L437F	probably damaging	Het
Dock4	T	A	12: 40,883,118 (GRCm39)	L1642I	probably benign	Het
Fads2b	A	G	2: 85,349,070 (GRCm39)	V14A	probably benign	Het
Fap	A	G	2: 62,333,142 (GRCm39)		probably null	Het
Fbh1	A	T	2: 11,772,100 (GRCm39)	Y194N	probably benign	Het
Fras1	A	G	5: 96,910,536 (GRCm39)	T3322A	probably damaging	Het
Gabra4	A	G	5: 71,781,304 (GRCm39)	F369S	probably damaging	Het
Igkv9-124	T	A	6: 67,919,136 (GRCm39)	D92V	probably damaging	Het
Kcna6	C	A	6: 126,715,948 (GRCm39)	E314*	probably null	Het
Kyat1	A	C	2: 30,082,065 (GRCm39)	S25A	probably benign	Het
Lars2	G	A	9: 123,265,309 (GRCm39)	G455D	probably damaging	Het
Mertk	A	G	2: 128,613,418 (GRCm39)	H478R	probably benign	Het
Mier1	A	T	4: 102,988,240 (GRCm39)	T83S	probably damaging	Het
Mmp1a	C	A	9: 7,476,215 (GRCm39)	H437Q	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Neb	G	T	2: 52,178,856 (GRCm39)	A1300D	probably damaging	Het
Nell2	T	A	15: 95,333,155 (GRCm39)	L167F	probably damaging	Het
Or10h1	G	C	17: 33,418,321 (GRCm39)	A100P	probably damaging	Het
Or12j2	T	A	7: 139,916,255 (GRCm39)	M160K	possibly damaging	Het
Or4d10c	T	C	19: 12,065,358 (GRCm39)	D266G	probably damaging	Het
Pald1	T	C	10: 61,183,218 (GRCm39)	T339A	probably benign	Het
Pex13	A	C	11: 23,605,915 (GRCm39)	L105W	probably damaging	Het
Prxl2a	A	C	14: 40,716,483 (GRCm39)	*230G	probably null	Het
Ptprd	A	C	4: 75,984,479 (GRCm39)	F556V	possibly damaging	Het
Rgp1	T	A	4: 43,581,664 (GRCm39)	C314S	probably benign	Het
Rnaseh2a	G	A	8: 85,692,678 (GRCm39)		probably benign	Het
Rpl7	A	T	1: 16,172,949 (GRCm39)	M154K	probably benign	Het
Samd9l	A	T	6: 3,373,034 (GRCm39)	L1409Q	probably damaging	Het
Slc35f3	A	G	8: 127,047,812 (GRCm39)	T51A	probably benign	Het
Slc7a10	A	G	7: 34,899,865 (GRCm39)	Y76C		Het
Slk	G	T	19: 47,597,344 (GRCm39)	A51S		Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stk38	A	T	17: 29,211,422 (GRCm39)	V51E	probably benign	Het
Tecta	A	T	9: 42,278,480 (GRCm39)	C1009*	probably null	Het
Vmn1r228	A	T	17: 20,997,227 (GRCm39)	M97K	possibly damaging	Het
Xpo4	T	C	14: 57,827,403 (GRCm39)	D931G	probably damaging	Het
Zfp503	T	C	14: 22,036,227 (GRCm39)	T230A	possibly damaging	Het

Other mutations in Frey1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Frey1	APN	2	92,213,563 (GRCm39)	missense	probably benign	0.14
R1840:Frey1	UTSW	2	92,213,554 (GRCm39)	missense	probably benign
R7685:Frey1	UTSW	2	92,213,817 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCTGTCTCACTGTGTCAC -3'
(R):5'- AGAGGTCATTTCAGTTCCACTTC -3'

Sequencing Primer
(F):5'- TGTGTCACAGCACAGCCTC -3'
(R):5'- ATTTCAGTTCCACTTCACAGTTAG -3'

Posted On

2020-01-23