Mutagenetix > Incidental Mutation

Incidental Mutation 'R9625:Gm3573'

725111

Institutional Source

Beutler Lab

Gene Symbol

Gm3573

Ensembl Gene

ENSMUSG00000091792

Gene Name

predicted gene 3573

Synonyms

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R9625 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42185391-42190791 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42189648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 42 (R42G)

Ref Sequence

ENSEMBL: ENSMUSP00000127488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168673]

AlphaFold

L7N292

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168673
AA Change: R42G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127488
Gene: ENSMUSG00000091792
AA Change: R42G

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	88	1.4e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	G	3: 121,671,384	E23G	unknown	Het
Abhd5	A	G	9: 122,379,541	Y332C	probably damaging	Het
Adcyap1r1	A	T	6: 55,480,070	E262V	probably damaging	Het
Adgre5	A	G	8: 83,724,029	Y793H	probably damaging	Het
Arhgef33	A	T	17: 80,347,278	Y78F	possibly damaging	Het
Asl	G	A	5: 130,018,852	A91V	probably damaging	Het
Cd40	A	T	2: 165,063,141	I126F	probably benign	Het
Ceacam10	A	G	7: 24,777,280	E2G	probably damaging	Het
Cfap46	C	T	7: 139,650,889	R941H		Het
Cntnap3	A	T	13: 64,858,765	S78T	probably damaging	Het
Cntnap4	T	C	8: 112,875,549	V1195A	possibly damaging	Het
Cthrc1	T	C	15: 39,084,479	S198P	probably damaging	Het
Dcaf7	T	G	11: 106,051,968		probably null	Het
Dhx16	A	G	17: 35,882,521	E252G	probably benign	Het
Efcab2	C	T	1: 178,474,940	T83I	possibly damaging	Het
Efhc1	A	G	1: 20,979,514	N533D	probably benign	Het
Emilin2	A	G	17: 71,274,117	V538A	probably benign	Het
Fam171b	A	T	2: 83,853,570	T144S	probably damaging	Het
Fam98a	A	G	17: 75,538,479	F424S	unknown	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 152,795,631		probably null	Het
H2-K1	G	A	17: 34,000,001	P23S	probably benign	Het
Hormad2	G	A	11: 4,427,372	P22L	probably damaging	Het
Hoxb1	C	T	11: 96,365,984	A53V	probably benign	Het
Kalrn	T	A	16: 34,028,827		probably null	Het
Kdm2a	C	T	19: 4,343,113	D405N		Het
Kif1a	C	T	1: 93,073,044	E287K	probably benign	Het
Lrrk1	A	T	7: 66,259,918	*2015K	probably null	Het
Ltbp1	G	T	17: 75,179,162	G61C	probably damaging	Het
Mthfd2l	A	G	5: 90,959,708	H143R	probably damaging	Het
Myo1d	C	A	11: 80,557,470	G943V	possibly damaging	Het
Ncoa1	T	A	12: 4,295,643	Q568L	probably damaging	Het
Ncoa3	G	A	2: 166,057,210	S824N	probably benign	Het
Nfe2l3	A	T	6: 51,457,945	D495V	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp14	A	G	7: 107,182,962	I455M	probably benign	Het
Npb	T	C	11: 120,608,549	L14P	probably damaging	Het
Olfr566	C	T	7: 102,856,429	M284I	probably benign	Het
P2ry12	G	A	3: 59,218,075	R60C	possibly damaging	Het
Pcdhb17	T	A	18: 37,486,366	L403*	probably null	Het
Phb2	G	A	6: 124,714,011	R44H	probably damaging	Het
Plekha5	A	T	6: 140,426,527	T68S	probably benign	Het
Ptprg	C	T	14: 12,152,027	R447W	probably damaging	Het
Ptprk	T	C	10: 28,586,010	Y1190H	probably damaging	Het
Ptpro	G	T	6: 137,394,875	C630F	probably damaging	Het
Rrp15	G	T	1: 186,721,521	P243Q	possibly damaging	Het
Smurf1	A	G	5: 144,894,110	F285S	possibly damaging	Het
Spata13	C	T	14: 60,706,900	P581S	probably benign	Het
Tex44	T	C	1: 86,426,531	I54T	unknown	Het
Tom1l2	A	G	11: 60,270,451	V78A	probably damaging	Het
Vps11	A	G	9: 44,354,441	W514R	probably damaging	Het
Wnk2	C	A	13: 49,100,969	V357L	probably benign	Het
Zfp970	C	T	2: 177,475,997	Q455*	probably null	Het

Other mutations in Gm3573

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Gm3573	APN	14	42187566	missense	probably benign	0.08
IGL02548:Gm3573	APN	14	42187495	critical splice donor site	probably null
R6774:Gm3573	UTSW	14	42187515	missense	possibly damaging	0.86
R6827:Gm3573	UTSW	14	42188472	missense	probably benign	0.00
R7607:Gm3573	UTSW	14	42189750	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CCAATCAGGCAGAAGAGTTTGG -3'
(R):5'- GCTCTTTCAGGGATTCACAGTG -3'

Sequencing Primer
(F):5'- AGAGTTTGGATATGTGGACAGCC -3'
(R):5'- CAGGGATTCACAGTGTCTCTAG -3'

Posted On

2022-09-12