Mutagenetix > Incidental Mutation

Incidental Mutation 'R5487:Gm4871'

430405

Institutional Source

Beutler Lab

Gene Symbol

Gm4871

Ensembl Gene

ENSMUSG00000061707

Gene Name

predicted gene 4871

Synonyms

MMRRC Submission

043048-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144966410-144969564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144967199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 178 (E178D)

Ref Sequence

ENSEMBL: ENSMUSP00000071368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071421] [ENSMUST00000151196]

AlphaFold

D3Z0W7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071421
AA Change: E178D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071368
Gene: ENSMUSG00000061707
AA Change: E178D

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	62	153	2.4e-10	PFAM
low complexity region	166	186	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
low complexity region	260	285	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199866

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,844,340 (GRCm39)	V959A	probably damaging	Het
Alg3	A	T	16: 20,426,530 (GRCm39)	I115N	probably damaging	Het
Ash1l	A	G	3: 88,888,733 (GRCm39)	D204G	probably benign	Het
Camta1	C	A	4: 151,229,211 (GRCm39)	E540D	possibly damaging	Het
Cblc	T	C	7: 19,518,733 (GRCm39)	T413A	probably benign	Het
Ccdc122	T	A	14: 77,329,119 (GRCm39)	H57Q	probably benign	Het
Ccdc85a	A	T	11: 28,526,768 (GRCm39)	L280*	probably null	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,864 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Ecpas	T	C	4: 58,809,421 (GRCm39)	D1651G	probably benign	Het
Eif2ak1	A	G	5: 143,833,981 (GRCm39)		probably null	Het
Erich4	A	G	7: 25,314,664 (GRCm39)	M83T	probably benign	Het
Fbxo24	C	T	5: 137,617,094 (GRCm39)	G331E	possibly damaging	Het
Fzd4	A	G	7: 89,056,615 (GRCm39)	I221V	probably benign	Het
G6pc2	T	C	2: 69,056,921 (GRCm39)	V189A	probably damaging	Het
Gm10663	A	C	8: 65,527,686 (GRCm39)	E1A	probably null	Het
Igdcc3	A	G	9: 65,088,866 (GRCm39)	E415G	probably damaging	Het
Kmt2a	A	T	9: 44,733,272 (GRCm39)		probably benign	Het
Krba1	T	C	6: 48,380,973 (GRCm39)	V103A	probably damaging	Het
Lcat	T	C	8: 106,666,296 (GRCm39)	K409E	probably benign	Het
Lrriq4	C	A	3: 30,714,144 (GRCm39)	N497K	probably benign	Het
Mical2	A	G	7: 111,919,842 (GRCm39)	T451A	probably damaging	Het
Noxo1	C	T	17: 24,917,291 (GRCm39)		probably benign	Het
Oas1a	A	G	5: 121,045,490 (GRCm39)	I17T	probably damaging	Het
Otog	A	T	7: 45,938,192 (GRCm39)	Y1967F	probably benign	Het
Pcdha9	A	T	18: 37,132,703 (GRCm39)	N591Y	probably damaging	Het
Plxna4	A	G	6: 32,494,218 (GRCm39)	Y133H	probably damaging	Het
Pou5f2	T	C	13: 78,173,118 (GRCm39)	L20P	probably benign	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Sema3b	A	T	9: 107,478,161 (GRCm39)	M408K	probably damaging	Het
Serpinf2	G	A	11: 75,324,031 (GRCm39)	T332I	probably damaging	Het
Tmbim1	A	G	1: 74,332,164 (GRCm39)	V121A	probably benign	Het
Tph2	C	T	10: 114,955,779 (GRCm39)	G338D	probably damaging	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,642,896 (GRCm39)	V13247M	probably damaging	Het
Uty	C	T	Y: 1,174,825 (GRCm39)	G192R	probably damaging	Het
Vmn2r65	G	T	7: 84,595,529 (GRCm39)	P385Q	possibly damaging	Het
Wdfy3	G	A	5: 101,984,140 (GRCm39)	R3489W	probably damaging	Het
Zfp750	A	G	11: 121,404,558 (GRCm39)	S106P	probably benign	Het

Other mutations in Gm4871

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Gm4871	APN	5	144,967,170 (GRCm39)	intron	probably benign
IGL02073:Gm4871	APN	5	144,969,388 (GRCm39)	nonsense	probably null
R0471:Gm4871	UTSW	5	144,968,402 (GRCm39)	intron	probably benign
R1905:Gm4871	UTSW	5	144,966,859 (GRCm39)	missense	probably damaging	1.00
R2079:Gm4871	UTSW	5	144,966,741 (GRCm39)	missense	possibly damaging	0.81
R3008:Gm4871	UTSW	5	144,966,627 (GRCm39)	missense	probably damaging	0.99
R3778:Gm4871	UTSW	5	144,966,893 (GRCm39)	missense	probably damaging	1.00
R5274:Gm4871	UTSW	5	144,967,180 (GRCm39)	missense	probably damaging	0.99
R7397:Gm4871	UTSW	5	144,969,508 (GRCm39)	missense	probably damaging	1.00
R7517:Gm4871	UTSW	5	144,969,430 (GRCm39)	missense	probably damaging	1.00
R7788:Gm4871	UTSW	5	144,969,420 (GRCm39)	missense	probably benign	0.25
R8104:Gm4871	UTSW	5	144,969,012 (GRCm39)	missense	probably damaging	1.00
R8802:Gm4871	UTSW	5	144,966,876 (GRCm39)	missense	probably benign	0.34
R9087:Gm4871	UTSW	5	144,969,088 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TTCTCATGCCAGAGGACTCC -3'
(R):5'- GTGAAGTGAGGCCAGACTTC -3'

Sequencing Primer
(F):5'- ATGCCAGAGGACTCCCAGTC -3'
(R):5'- TGAGGCCAGACTTCCGACTC -3'

Posted On

2016-10-05