Mutagenetix > Incidental Mutation

Incidental Mutation 'R4319:Gm2663'

324128

Institutional Source

Beutler Lab

Gene Symbol

Gm2663

Ensembl Gene

ENSMUSG00000096525

Gene Name

predicted gene 2663

Synonyms

MMRRC Submission

041660-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4319 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

40972764-40976413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40974530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 87 (Q87K)

Ref Sequence

ENSEMBL: ENSMUSP00000130465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166306]

AlphaFold

F6R7E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000166306
AA Change: Q87K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130465
Gene: ENSMUSG00000096525
AA Change: Q87K

Domain	Start	End	E-Value	Type
Tryp_SPc	23	240	3.04e-97	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

94% (31/33)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l2	A	T	3: 108,113,148 (GRCm39)	D218E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cacna1c	A	C	6: 118,631,330 (GRCm39)	I1148S	probably damaging	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Ccdc191	A	G	16: 43,767,872 (GRCm39)	E624G	probably damaging	Het
Cep290	A	C	10: 100,374,909 (GRCm39)	H1385P	probably benign	Het
Chrd	A	G	16: 20,555,798 (GRCm39)	H545R	probably damaging	Het
Dgkb	A	G	12: 38,488,598 (GRCm39)	I655V	probably damaging	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kif11	T	C	19: 37,373,033 (GRCm39)	V84A	probably damaging	Het
Klf2	A	G	8: 73,074,005 (GRCm39)	T270A	probably benign	Het
Lemd2	A	G	17: 27,420,651 (GRCm39)	M254T	possibly damaging	Het
Luc7l	A	T	17: 26,496,593 (GRCm39)		probably benign	Het
Mapk11	T	C	15: 89,030,946 (GRCm39)	E71G	probably damaging	Het
Mcoln2	G	A	3: 145,855,766 (GRCm39)		probably null	Het
Or2y1f	G	A	11: 49,184,503 (GRCm39)	M118I	probably damaging	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Pygb	G	T	2: 150,657,534 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spty2d1	T	C	7: 46,647,883 (GRCm39)	S349G	probably damaging	Het
Srbd1	A	T	17: 86,358,578 (GRCm39)	V657D	probably damaging	Het
Tspo2	G	T	17: 48,756,871 (GRCm39)		probably benign	Het
Ufsp2	A	G	8: 46,448,664 (GRCm39)	T422A	possibly damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Wdr46	A	G	17: 34,159,718 (GRCm39)	T3A	probably benign	Het

Other mutations in Gm2663

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Gm2663	APN	6	40,973,010 (GRCm39)	missense	probably damaging	1.00
IGL02200:Gm2663	APN	6	40,972,947 (GRCm39)	missense	probably benign	0.00
R1222:Gm2663	UTSW	6	40,972,975 (GRCm39)	missense	probably benign
R1726:Gm2663	UTSW	6	40,974,960 (GRCm39)	missense	probably damaging	1.00
R1779:Gm2663	UTSW	6	40,974,894 (GRCm39)	missense	probably damaging	0.98
R2018:Gm2663	UTSW	6	40,974,900 (GRCm39)	missense	probably benign	0.01
R4321:Gm2663	UTSW	6	40,974,530 (GRCm39)	missense	probably damaging	1.00
R4776:Gm2663	UTSW	6	40,972,887 (GRCm39)	missense	probably damaging	1.00
R7149:Gm2663	UTSW	6	40,974,891 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGTATTTCCCCAGCCAG -3'
(R):5'- CTGAACATTGGCTGTAAGGC -3'

Sequencing Primer
(F):5'- CAGAAACAAGGCACTGAGCATTTG -3'
(R):5'- TTCATAGCCCTGACAGTACTGGATG -3'

Posted On

2015-06-24