Mutagenetix > Incidental Mutation

Incidental Mutation 'R1219:Gm5111'

99907

Institutional Source

Beutler Lab

Gene Symbol

Gm5111

Ensembl Gene

ENSMUSG00000052730

Gene Name

predicted gene 5111

Synonyms

MMRRC Submission

039288-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48566379-48567518 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 48567328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009420] [ENSMUST00000064744] [ENSMUST00000118229] [ENSMUST00000135151] [ENSMUST00000154010] [ENSMUST00000204121] [ENSMUST00000204521] [ENSMUST00000163452]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000009420

SMART Domains

Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
ZnF_C2H2	285	307	5.21e-4	SMART
ZnF_C2H2	353	375	4.72e-2	SMART
ZnF_C2H2	381	403	1.26e-2	SMART
ZnF_C2H2	409	431	1.79e-2	SMART
ZnF_C2H2	437	459	4.24e-4	SMART
ZnF_C2H2	465	487	6.52e-5	SMART
ZnF_C2H2	493	515	2.61e-4	SMART
ZnF_C2H2	521	543	1.45e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000064744
AA Change: N181S

SMART Domains

Protein: ENSMUSP00000064804
Gene: ENSMUSG00000052730
AA Change: N181S

Domain	Start	End	E-Value	Type
low complexity region	160	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118229

SMART Domains

Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
ZnF_C2H2	285	307	5.21e-4	SMART
ZnF_C2H2	353	375	4.72e-2	SMART
ZnF_C2H2	381	403	1.26e-2	SMART
ZnF_C2H2	409	431	1.79e-2	SMART
ZnF_C2H2	437	459	4.24e-4	SMART
ZnF_C2H2	465	487	6.52e-5	SMART
ZnF_C2H2	493	515	2.61e-4	SMART
ZnF_C2H2	521	543	1.45e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130896

Predicted Effect

probably benign
Transcript: ENSMUST00000135151

SMART Domains

Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
Pfam:zf-C2H2_6	284	300	1.4e-1	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150030

Predicted Effect

probably benign
Transcript: ENSMUST00000154010

SMART Domains

Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
ZnF_C2H2	285	307	5.21e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203141

Predicted Effect

probably benign
Transcript: ENSMUST00000204121

Predicted Effect

probably benign
Transcript: ENSMUST00000204521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181661

Predicted Effect

probably benign
Transcript: ENSMUST00000163452

SMART Domains

Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
ZnF_C2H2	285	307	5.21e-4	SMART
ZnF_C2H2	353	375	4.72e-2	SMART
ZnF_C2H2	381	403	1.26e-2	SMART
ZnF_C2H2	409	431	1.79e-2	SMART
ZnF_C2H2	437	459	4.24e-4	SMART
ZnF_C2H2	465	487	6.52e-5	SMART
ZnF_C2H2	493	515	2.61e-4	SMART
ZnF_C2H2	521	543	1.45e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	G	15: 57,998,307 (GRCm39)	S22P	probably benign	Het
Atrn	A	T	2: 130,862,927 (GRCm39)	T1336S	possibly damaging	Het
Bltp1	T	A	3: 37,000,619 (GRCm39)	L1266*	probably null	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc113	T	C	8: 96,264,895 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,802,040 (GRCm39)		probably benign	Het
Ciao3	T	C	17: 25,994,075 (GRCm39)	I41T	probably damaging	Het
Dcun1d3	G	T	7: 119,458,631 (GRCm39)	Q135K	probably damaging	Het
Dnah7b	A	C	1: 46,379,280 (GRCm39)	E3671D	probably benign	Het
Eea1	A	G	10: 95,846,623 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,155 (GRCm39)	V42A	probably damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Golga3	G	T	5: 110,332,215 (GRCm39)	E50*	probably null	Het
Junb	T	C	8: 85,704,268 (GRCm39)	E264G	probably damaging	Het
Kash5	A	G	7: 44,838,832 (GRCm39)		probably benign	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Krt18	T	C	15: 101,939,723 (GRCm39)		probably benign	Het
Man1a	G	A	10: 53,795,249 (GRCm39)		probably benign	Het
Mapkbp1	G	T	2: 119,849,831 (GRCm39)	G768*	probably null	Het
Mybpc2	A	C	7: 44,165,458 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,275,042 (GRCm39)	C238*	probably null	Het
Ntf3	G	T	6: 126,079,174 (GRCm39)	R98S	possibly damaging	Het
Nup153	T	G	13: 46,840,695 (GRCm39)	Q971P	probably benign	Het
Nup155	A	G	15: 8,146,822 (GRCm39)	T221A	possibly damaging	Het
Ppp2r1b	T	C	9: 50,778,621 (GRCm39)		probably benign	Het
Prkd1	A	T	12: 50,435,125 (GRCm39)	V534E	probably damaging	Het
Rabep2	A	G	7: 126,028,799 (GRCm39)	E26G	probably damaging	Het
Rnf213	C	A	11: 119,327,003 (GRCm39)	N1663K	probably damaging	Het
Slc1a1	G	A	19: 28,882,146 (GRCm39)		probably benign	Het
Slc36a4	T	C	9: 15,634,832 (GRCm39)	Y125H	probably damaging	Het
Slc6a11	G	A	6: 114,202,772 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,862,578 (GRCm39)		probably null	Het
Sumf2	G	T	5: 129,883,613 (GRCm39)	A164S	probably benign	Het
Sv2b	T	C	7: 74,786,160 (GRCm39)	D420G	probably benign	Het
Ube2v1	T	C	2: 167,459,831 (GRCm39)	D56G	probably benign	Het
Ung	A	G	5: 114,270,228 (GRCm39)		probably benign	Het
Vcan	T	C	13: 89,828,023 (GRCm39)	Y2181C	probably damaging	Het
Vmn1r238	G	A	18: 3,123,135 (GRCm39)	T93I	possibly damaging	Het
Vmn2r14	A	C	5: 109,372,440 (GRCm39)	S17A	probably benign	Het
Vmn2r25	A	G	6: 123,816,282 (GRCm39)	V433A	probably benign	Het
Zfp36l2	A	G	17: 84,495,070 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp839	A	G	12: 110,834,707 (GRCm39)	D654G	possibly damaging	Het

Other mutations in Gm5111

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00475:Gm5111	APN	6	48,566,620 (GRCm39)	utr 5 prime	probably benign
R6261:Gm5111	UTSW	6	48,566,526 (GRCm39)	unclassified	probably benign
R6354:Gm5111	UTSW	6	48,567,268 (GRCm39)	intron	probably benign
R7701:Gm5111	UTSW	6	48,567,027 (GRCm39)	missense	unknown
R8867:Gm5111	UTSW	6	48,566,629 (GRCm39)	critical splice donor site	probably null
R9198:Gm5111	UTSW	6	48,567,037 (GRCm39)	missense	unknown
Z1176:Gm5111	UTSW	6	48,567,243 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTTTCCATGAGAACCAACCCTGC -3'
(R):5'- CATCATCAAGCTTTGCTGGCTGC -3'

Sequencing Primer
(F):5'- GGCCTTAATTAGCCTCTCTACAG -3'
(R):5'- agtcctttcccttgccttg -3'

Posted On

2014-01-15