Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Gm498'

656153

Institutional Source

Beutler Lab

Gene Symbol

Gm498

Ensembl Gene

ENSMUSG00000031085

Gene Name

predicted gene 498

Synonyms

LOC244239

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143866838-143900046 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143897274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 342 (I342N)

Ref Sequence

ENSEMBL: ENSMUSP00000115809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134455] [ENSMUST00000152910] [ENSMUST00000179036] [ENSMUST00000207235] [ENSMUST00000207482] [ENSMUST00000207630] [ENSMUST00000207642] [ENSMUST00000208038] [ENSMUST00000208153] [ENSMUST00000208457] [ENSMUST00000208625] [ENSMUST00000208761]

AlphaFold

D3YYH9

Predicted Effect

probably benign
Transcript: ENSMUST00000134455

Predicted Effect

probably damaging
Transcript: ENSMUST00000152910
AA Change: I342N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085
AA Change: I342N

Domain	Start	End	E-Value	Type
ACTIN	3	372	1.94e-125	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179036

SMART Domains

Protein: ENSMUSP00000137404
Gene: ENSMUSG00000031085

Domain	Start	End	E-Value	Type
ACTIN	5	330	1.4e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207235

Predicted Effect

probably benign
Transcript: ENSMUST00000207482

Predicted Effect

probably damaging
Transcript: ENSMUST00000207630
AA Change: I340N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000207642

Predicted Effect

probably benign
Transcript: ENSMUST00000208038

Predicted Effect

probably benign
Transcript: ENSMUST00000208153

Predicted Effect

probably benign
Transcript: ENSMUST00000208457

Predicted Effect

probably benign
Transcript: ENSMUST00000208625

Predicted Effect

probably benign
Transcript: ENSMUST00000208761

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768	I212N	probably damaging	Het
Prom1	T	C	5: 44,007,099	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355	Y75F	possibly damaging	Het

Other mutations in Gm498

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02202:Gm498	APN	7	143894173	missense	possibly damaging	0.71
R0128:Gm498	UTSW	7	143891755	missense	probably damaging	1.00
R0217:Gm498	UTSW	7	143894219	splice site	probably benign
R0726:Gm498	UTSW	7	143871761	missense	probably damaging	0.99
R1025:Gm498	UTSW	7	143896390	missense	probably damaging	0.99
R2879:Gm498	UTSW	7	143894063	nonsense	probably null
R2925:Gm498	UTSW	7	143883999	nonsense	probably null
R3625:Gm498	UTSW	7	143871854	missense	possibly damaging	0.71
R4003:Gm498	UTSW	7	143897303	missense	probably benign	0.16
R4184:Gm498	UTSW	7	143894121	nonsense	probably null
R4205:Gm498	UTSW	7	143869227	missense	probably damaging	0.99
R6179:Gm498	UTSW	7	143871787	missense	probably benign	0.12
R7170:Gm498	UTSW	7	143896365	missense	probably damaging	0.97
R8023:Gm498	UTSW	7	143891791	missense	probably damaging	0.97
R8109:Gm498	UTSW	7	143897466	splice site	probably null
R8120:Gm498	UTSW	7	143871787	missense	probably benign	0.12
R8309:Gm498	UTSW	7	143883943	missense	possibly damaging	0.95
R8748:Gm498	UTSW	7	143891819	missense	probably benign
R8944:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R8964:Gm498	UTSW	7	143869293	missense	probably benign
R9220:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9221:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9222:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9303:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9304:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9306:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9307:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9308:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9428:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null
R9429:Gm498	UTSW	7	143881165	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCATCATGGCATCAAGGATG -3'
(R):5'- TATGCCCTGCTCAGTATGGC -3'

Sequencing Primer
(F):5'- GCCTCCTGAGTATTAGAATCACAGG -3'
(R):5'- CTGCTCAGTATGGCTAAGGC -3'

Posted On

2020-10-20