Mutagenetix > Incidental Mutations

Incidental Mutation 'R2997:Gm4737'

257208

Institutional Source

Beutler Lab

Gene Symbol

Gm4737

Ensembl Gene

ENSMUSG00000048087

Gene Name

predicted gene 4737

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R2997 (G1)

Quality Score

213

Status

Not validated

Chromosome

Chromosomal Location

46152985-46155077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46153925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 363 (T363I)

Ref Sequence

ENSEMBL: ENSMUSP00000127198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059524]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059524
AA Change: T363I

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127198
Gene: ENSMUSG00000048087
AA Change: T363I

Domain	Start	End	E-Value	Type
AdoHcyase	6	431	N/A	SMART
AdoHcyase_NAD	191	352	1.49e-118	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,817,649	V82E	probably damaging	Het
Arid5b	C	T	10: 68,098,462	G294S	probably benign	Het
Arl6	A	T	16: 59,623,876		probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
BC027072	ACTGCTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	17: 71,744,711		probably benign	Het
Elp4	A	G	2: 105,814,316	F228L	possibly damaging	Het
Fndc3b	A	C	3: 27,468,872	D519E	probably benign	Het
Gbp9	T	A	5: 105,082,769	I430F	probably benign	Het
Lgr4	A	T	2: 110,003,517	E369D	probably benign	Het
Lrguk	T	A	6: 34,073,762	V385D	probably damaging	Het
Mier1	T	A	4: 103,131,036	D52E	probably damaging	Het
Mthfd1	G	T	12: 76,315,036	V139F	probably benign	Het
Myg1	G	T	15: 102,337,510	R315L	probably null	Het
Tchh	CACGCGAGGAACGCGAGGAAC	CACGCGAGGAAC	3: 93,447,750		probably benign	Het
Ttn	A	G	2: 76,886,006		probably benign	Het
Tyw5	T	C	1: 57,388,641	D268G	probably damaging	Het

Other mutations in Gm4737

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Gm4737	APN	16	46154078	missense	probably benign
IGL03347:Gm4737	APN	16	46154489	missense	probably benign	0.01
R0326:Gm4737	UTSW	16	46153883	missense	probably benign	0.03
R0552:Gm4737	UTSW	16	46154592	missense	probably benign
R0610:Gm4737	UTSW	16	46153901	missense	probably damaging	1.00
R1465:Gm4737	UTSW	16	46153848	missense	probably benign	0.01
R1465:Gm4737	UTSW	16	46153848	missense	probably benign	0.01
R1473:Gm4737	UTSW	16	46154819	missense	probably damaging	1.00
R4546:Gm4737	UTSW	16	46153967	missense	possibly damaging	0.81
R4818:Gm4737	UTSW	16	46154192	missense	probably damaging	1.00
R6544:Gm4737	UTSW	16	46154784	missense	probably benign
R7358:Gm4737	UTSW	16	46153838	missense	probably damaging	1.00
R7689:Gm4737	UTSW	16	46154607	missense	probably benign	0.12
R8260:Gm4737	UTSW	16	46154423	missense	probably damaging	1.00
R9041:Gm4737	UTSW	16	46154105	missense	possibly damaging	0.86
R9048:Gm4737	UTSW	16	46154195	missense	probably damaging	1.00
Z1176:Gm4737	UTSW	16	46154229	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AGTAGCGGTAGTGATCAGGC -3'
(R):5'- GGACACTTCGATGTGGAGATTG -3'

Sequencing Primer
(F):5'- CGGTAGTGATCAGGCTTGAAG -3'
(R):5'- TTGATGTGAAGTGGCTCAATGAGAAC -3'

Posted On

2015-01-11