Mutagenetix > Incidental Mutations

Incidental Mutation 'R2857:Gm5724'

252468

Institutional Source

Beutler Lab

Gene Symbol

Gm5724

Ensembl Gene

ENSMUSG00000084927

Gene Name

predicted gene 5724

Synonyms

MMRRC Submission

040447-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R2857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141708118-141773810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141744538 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000117177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148411]

Predicted Effect

probably benign
Transcript: ENSMUST00000148411
AA Change: V163A

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: V163A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	405	3.4e-26	PFAM
KAZAL	438	484	1.71e0	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330087D11Rik	A	T	7: 29,573,878		noncoding transcript	Het
Amfr	A	T	8: 94,005,214	N11K	probably damaging	Het
Bpifa6	G	A	2: 153,989,274	M253I	probably benign	Het
C330018D20Rik	A	G	18: 56,962,459	L18P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh23	C	T	10: 60,382,653		probably null	Het
Ceacam1	T	A	7: 25,474,017	I249F	probably damaging	Het
Cfap54	C	T	10: 93,045,282	R348Q	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cuzd1	C	T	7: 131,316,134	V246M	probably damaging	Het
Ehd2	A	T	7: 15,964,129	V61E	probably damaging	Het
Erich5	C	T	15: 34,471,414	T263I	probably damaging	Het
Fam71b	T	C	11: 46,405,212	I137T	probably damaging	Het
Fbxo36	A	G	1: 84,896,595	K104R	probably benign	Het
Fibin	C	T	2: 110,362,197	R200H	probably damaging	Het
Gad2	A	C	2: 22,673,975	M397L	probably benign	Het
Iqgap3	C	A	3: 88,107,596	S873*	probably null	Het
Kcnh8	A	G	17: 52,977,933	D977G	probably benign	Het
Maats1	A	C	16: 38,302,713	L651R	probably damaging	Het
Mau2	T	C	8: 70,019,824	M570V	probably benign	Het
Mrgprb4	T	A	7: 48,198,336	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,288,925	Y258H	probably damaging	Het
Nexn	C	T	3: 152,248,043	E247K	probably damaging	Het
Olfr139	C	T	11: 74,044,827	G149D	possibly damaging	Het
Olfr311	T	A	11: 58,841,882	V256E	probably benign	Het
Olfr743	T	A	14: 50,533,440	N9K	probably benign	Het
Phrf1	T	A	7: 141,259,680		probably benign	Het
Prc1	A	G	7: 80,312,221	N52S	probably damaging	Het
Psd	G	C	19: 46,324,420	S170R	probably benign	Het
Riok1	T	C	13: 38,049,077	F229L	probably damaging	Het
Stat2	A	G	10: 128,276,901		probably null	Het
Sycp3	A	G	10: 88,467,372	E166G	probably damaging	Het
Szt2	G	A	4: 118,369,402	T510I	probably damaging	Het
Trank1	A	T	9: 111,366,933	T1342S	probably benign	Het
Trav3-1	C	A	14: 52,581,058	A63E	probably benign	Het
Trim34b	A	T	7: 104,336,232	N358I	probably benign	Het
Trmt11	G	C	10: 30,547,748	P387R	probably damaging	Het
Vmn2r82	T	A	10: 79,381,256	I474N	probably damaging	Het
Vrk2	C	A	11: 26,483,324	S286I	possibly damaging	Het
Wdfy3	A	T	5: 101,875,930	I2451N	probably benign	Het
Zfp326	G	A	5: 105,888,529	R102H	probably benign	Het

Other mutations in Gm5724

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Gm5724	APN	6	141754429	missense	probably benign	0.14
IGL01347:Gm5724	APN	6	141754466	nonsense	probably null
IGL01539:Gm5724	APN	6	141727607	missense	possibly damaging	0.88
IGL01613:Gm5724	APN	6	141713214	missense	possibly damaging	0.67
IGL02060:Gm5724	APN	6	141754408	missense	probably benign	0.00
IGL02063:Gm5724	APN	6	141738889	missense	probably benign	0.01
IGL02126:Gm5724	APN	6	141739013	missense	probably benign	0.29
IGL02214:Gm5724	APN	6	141723185	missense	possibly damaging	0.50
IGL02630:Gm5724	APN	6	141723110	missense	probably damaging	1.00
R0966:Gm5724	UTSW	6	141727573	missense	probably benign	0.00
R1082:Gm5724	UTSW	6	141712133	missense	probably damaging	1.00
R1433:Gm5724	UTSW	6	141765703	missense	probably benign	0.00
R1571:Gm5724	UTSW	6	141754409	nonsense	probably null
R1765:Gm5724	UTSW	6	141754358	splice site	probably benign
R2055:Gm5724	UTSW	6	141725455	missense	probably benign	0.33
R2174:Gm5724	UTSW	6	141727593	nonsense	probably null
R2495:Gm5724	UTSW	6	141765777	missense	probably benign	0.02
R3551:Gm5724	UTSW	6	141708596	missense	probably benign	0.20
R3824:Gm5724	UTSW	6	141754374	missense	possibly damaging	0.50
R3912:Gm5724	UTSW	6	141727636	missense	probably damaging	0.97
R3942:Gm5724	UTSW	6	141727714	missense	probably damaging	0.98
R4161:Gm5724	UTSW	6	141708596	missense	probably benign	0.20
R4168:Gm5724	UTSW	6	141738947	missense	probably benign	0.03
R4395:Gm5724	UTSW	6	141712118	missense	probably benign	0.02
R4720:Gm5724	UTSW	6	141723222	missense	probably damaging	1.00
R4732:Gm5724	UTSW	6	141723179	missense	probably benign	0.01
R4733:Gm5724	UTSW	6	141723179	missense	probably benign	0.01
R4794:Gm5724	UTSW	6	141767562	missense	probably benign	0.11
R5062:Gm5724	UTSW	6	141767454	missense	possibly damaging	0.46
R5389:Gm5724	UTSW	6	141740467	missense	probably benign	0.12
R5419:Gm5724	UTSW	6	141736100	splice site	probably null
R5423:Gm5724	UTSW	6	141744462	missense	probably damaging	1.00
R5704:Gm5724	UTSW	6	141713254	missense	probably benign	0.00
R5973:Gm5724	UTSW	6	141754456	missense	probably benign	0.01
R6041:Gm5724	UTSW	6	141739038	missense	probably benign	0.11
R6284:Gm5724	UTSW	6	141725393	missense	probably damaging	1.00
R6395:Gm5724	UTSW	6	141723092	splice site	probably null
X0020:Gm5724	UTSW	6	141754365	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTGTCCTCCCCAAAAGTGG -3'
(R):5'- CCCAGCATAGCAATGTAAGTCC -3'

Sequencing Primer
(F):5'- CTGTGAAGGACTACACTTCAGGATC -3'
(R):5'- GTCCTTGAATGGTCATTGTAACC -3'

Posted On

2014-12-04