Mutagenetix > Incidental Mutation

Incidental Mutation 'R5232:Gm5565'

455936

Institutional Source

Beutler Lab

Gene Symbol

Gm5565

Ensembl Gene

ENSMUSG00000104752

Gene Name

predicted gene 5565

Synonyms

MMRRC Submission

042804-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5232 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

146094612-146097349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146096947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 64 (Y64F)

Ref Sequence

ENSEMBL: ENSMUSP00000143497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000199463]

AlphaFold

A0A0G2JGB2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199463
AA Change: Y64F

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143497
Gene: ENSMUSG00000104752
AA Change: Y64F

Domain	Start	End	E-Value	Type
RasGEFN	66	182	2.8e-3	SMART
low complexity region	270	289	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,157,672 (GRCm39)	E1295G	probably damaging	Het
Adarb2	C	A	13: 8,763,676 (GRCm39)	H524Q	possibly damaging	Het
Arhgap26	A	G	18: 39,126,529 (GRCm39)	M1V	probably null	Het
Atp10b	G	A	11: 43,093,006 (GRCm39)	R447H	probably damaging	Het
B4galnt3	T	A	6: 120,209,949 (GRCm39)	Y58F	probably damaging	Het
Cdca7l	A	G	12: 117,833,820 (GRCm39)	E79G	probably damaging	Het
Chd4	C	G	6: 125,098,273 (GRCm39)	P350A	probably damaging	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Cubn	A	T	2: 13,483,013 (GRCm39)	C244*	probably null	Het
Cyfip2	A	G	11: 46,133,205 (GRCm39)	S832P	probably damaging	Het
Dnaaf1	A	C	8: 120,317,329 (GRCm39)	E286A	probably benign	Het
Emilin1	A	G	5: 31,074,323 (GRCm39)	K188R	probably benign	Het
Fstl5	T	C	3: 76,052,284 (GRCm39)	W5R	possibly damaging	Het
Golga4	G	A	9: 118,335,626 (GRCm39)		probably null	Het
Hmcn2	T	C	2: 31,347,760 (GRCm39)	L4802P	probably damaging	Het
Hnrnpll	C	T	17: 80,346,107 (GRCm39)	V385I	probably damaging	Het
Kctd9	A	T	14: 67,962,110 (GRCm39)	D51V	probably damaging	Het
Lcn9	T	C	2: 25,714,067 (GRCm39)		probably null	Het
Map1a	C	A	2: 121,132,466 (GRCm39)	P856H	probably damaging	Het
Myo5b	G	C	18: 74,848,003 (GRCm39)	E1080D	probably damaging	Het
Naglu	T	C	11: 100,960,976 (GRCm39)	I9T	probably benign	Het
Ndst3	A	T	3: 123,465,888 (GRCm39)	I28N	probably damaging	Het
Olfm4	A	G	14: 80,259,122 (GRCm39)	N424D	probably damaging	Het
Or11g26	T	A	14: 50,753,495 (GRCm39)	V278E	probably damaging	Het
Or4n5	A	G	14: 50,133,155 (GRCm39)	Y35H	probably damaging	Het
Phf13	T	C	4: 152,076,680 (GRCm39)	T171A	probably damaging	Het
Plk3	A	G	4: 116,986,317 (GRCm39)	V605A	probably benign	Het
Polr3a	A	T	14: 24,503,279 (GRCm39)	M1185K	probably benign	Het
Pramel7	A	T	2: 87,320,320 (GRCm39)	H324Q	probably damaging	Het
Prpf4b	T	A	13: 35,067,573 (GRCm39)		probably benign	Het
Pxdn	C	T	12: 30,040,987 (GRCm39)	T421I	probably benign	Het
Sertad2	C	T	11: 20,598,344 (GRCm39)	T180I	possibly damaging	Het
Sgo2b	C	A	8: 64,381,636 (GRCm39)	A399S	possibly damaging	Het
Skint5	T	C	4: 113,434,841 (GRCm39)	K1043E	unknown	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Spock3	T	C	8: 63,798,843 (GRCm39)	F288S	probably damaging	Het
Srgap1	T	C	10: 121,676,816 (GRCm39)	I393V	probably benign	Het
Taf6	T	C	5: 138,178,214 (GRCm39)	K429R	possibly damaging	Het
Vav1	T	C	17: 57,610,846 (GRCm39)	F447L	possibly damaging	Het
Vmn2r19	T	C	6: 123,312,916 (GRCm39)	M662T	probably benign	Het
Zfp541	A	G	7: 15,829,104 (GRCm39)	Y1152C	probably damaging	Het

Other mutations in Gm5565

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4362001:Gm5565	UTSW	5	146,095,109 (GRCm39)	missense	probably benign	0.05
R3774:Gm5565	UTSW	5	146,095,419 (GRCm39)	missense	probably benign	0.18
R3776:Gm5565	UTSW	5	146,095,419 (GRCm39)	missense	probably benign	0.18
R4872:Gm5565	UTSW	5	146,094,913 (GRCm39)	missense	probably benign
R6357:Gm5565	UTSW	5	146,097,283 (GRCm39)	missense	possibly damaging	0.55
R6562:Gm5565	UTSW	5	146,094,964 (GRCm39)	missense	probably damaging	1.00
R7094:Gm5565	UTSW	5	146,095,084 (GRCm39)	missense	probably benign	0.00
R7182:Gm5565	UTSW	5	146,094,865 (GRCm39)	missense	probably benign
R7325:Gm5565	UTSW	5	146,095,171 (GRCm39)	splice site	probably null
R8391:Gm5565	UTSW	5	146,096,962 (GRCm39)	missense	probably benign
R8700:Gm5565	UTSW	5	146,097,236 (GRCm39)	missense	probably damaging	0.99
R9047:Gm5565	UTSW	5	146,094,849 (GRCm39)	missense	probably damaging	1.00
R9276:Gm5565	UTSW	5	146,096,917 (GRCm39)	missense	probably damaging	1.00
Z1088:Gm5565	UTSW	5	146,095,479 (GRCm39)	missense	probably benign	0.02

Predicted Primers

Posted On

2017-02-14