Mutagenetix > Incidental Mutation

Incidental Mutation 'R1166:Gm5698'

100990

Institutional Source

Beutler Lab

Gene Symbol

Gm5698

Ensembl Gene

ENSMUSG00000086151

Gene Name

predicted gene 5698

Synonyms

MMRRC Submission

039239-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R1166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31016327-31017049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31016366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 228 (D228E)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000156220
AA Change: D228E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116628
Gene: ENSMUSG00000086151
AA Change: D228E

Domain	Start	End	E-Value	Type
RRM	84	156	1.12e-17	SMART
FoP_duplication	165	241	1.45e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178317

SMART Domains

Protein: ENSMUSP00000137086
Gene: ENSMUSG00000086151

Domain	Start	End	E-Value	Type
RRM	84	156	1.12e-17	SMART
FoP_duplication	165	241	1.45e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.0%
20x: 86.3%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,547,880 (GRCm39)	K286R	probably benign	Het
Arhgef10l	T	C	4: 140,302,581 (GRCm39)		probably benign	Het
Ccdc175	T	G	12: 72,152,706 (GRCm39)	K733T	probably damaging	Het
Cenpn	T	G	8: 117,652,946 (GRCm39)	I39R	probably damaging	Het
Cfap53	A	T	18: 74,433,251 (GRCm39)	Y112F	possibly damaging	Het
Cngb1	C	A	8: 95,986,809 (GRCm39)	C361F	probably damaging	Het
Ctf2	T	C	7: 127,318,685 (GRCm39)	T105A	probably benign	Het
Dnah7b	A	T	1: 46,364,970 (GRCm39)	T3584S	probably damaging	Het
Ebf3	C	T	7: 136,914,896 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,514,265 (GRCm39)		probably benign	Het
Fbxo17	T	A	7: 28,432,953 (GRCm39)	V158E	probably damaging	Het
Fbxw24	T	C	9: 109,436,066 (GRCm39)	E322G	probably benign	Het
Hfm1	A	T	5: 107,059,277 (GRCm39)	D248E	probably benign	Het
Insm2	T	C	12: 55,647,281 (GRCm39)	S342P	probably benign	Het
Krt36	G	A	11: 99,993,654 (GRCm39)	R395C	probably benign	Het
Lrrc37	A	G	11: 103,506,209 (GRCm39)	S1920P	probably benign	Het
Lsm14b	T	A	2: 179,673,334 (GRCm39)		probably benign	Het
Map1a	A	G	2: 121,130,741 (GRCm39)	E519G	probably damaging	Het
Mfsd14a	T	C	3: 116,427,543 (GRCm39)		probably benign	Het
Mfsd4b5	T	C	10: 39,846,419 (GRCm39)	Y387C	probably damaging	Het
Mybpc2	T	C	7: 44,154,449 (GRCm39)	N1063D	possibly damaging	Het
Nlrp10	T	A	7: 108,524,217 (GRCm39)	H421L	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4a81	A	G	2: 89,619,675 (GRCm39)	V7A	possibly damaging	Het
Pacrg	A	T	17: 10,622,268 (GRCm39)	Y235*	probably null	Het
Pde4dip	T	A	3: 97,620,512 (GRCm39)	D1629V	possibly damaging	Het
Prl8a2	G	T	13: 27,537,935 (GRCm39)	S204I	possibly damaging	Het
Sec24a	A	T	11: 51,624,294 (GRCm39)	M356K	possibly damaging	Het
Sh3tc2	A	C	18: 62,124,247 (GRCm39)	S972R	probably damaging	Het
Shc2	C	T	10: 79,456,946 (GRCm39)	V557M	probably damaging	Het
Slc2a9	A	G	5: 38,539,384 (GRCm39)		probably null	Het
Tcaf1	T	C	6: 42,655,612 (GRCm39)	I455V	probably benign	Het
Umodl1	T	G	17: 31,221,772 (GRCm39)		probably benign	Het
Wdr27	T	C	17: 15,112,733 (GRCm39)	T658A	probably damaging	Het
Zfp318	T	C	17: 46,720,618 (GRCm39)	Y1119H	possibly damaging	Het
Zfp939	C	A	7: 39,122,763 (GRCm39)		noncoding transcript	Het

Other mutations in Gm5698

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0066:Gm5698	UTSW	1	31,016,614 (GRCm39)	missense	probably benign	0.09
R1509:Gm5698	UTSW	1	31,016,728 (GRCm39)	missense	probably benign	0.01
R1929:Gm5698	UTSW	1	31,017,042 (GRCm39)	missense	probably damaging	0.97
R2284:Gm5698	UTSW	1	31,016,964 (GRCm39)	missense	possibly damaging	0.69
R3785:Gm5698	UTSW	1	31,016,560 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2014-01-15