Mutagenetix > Incidental Mutations

Incidental Mutation 'R4861:Gm5800'

380264

Institutional Source

Beutler Lab

Gene Symbol

Gm5800

Ensembl Gene

ENSMUSG00000068506

Gene Name

predicted gene 5800

Synonyms

MMRRC Submission

042472-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51711643-51717183 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51716047 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 37 (N37I)

Ref Sequence

ENSEMBL: ENSMUSP00000093605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095916]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095916
AA Change: N37I

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

SMART Domains

Protein: ENSMUSP00000093605
Gene: ENSMUSG00000068506
AA Change: N37I

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	90	4.7e-28	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.2%
20x: 84.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,245,905	R1153H	probably damaging	Het
Ahcy	T	C	2: 155,060,516	E411G	probably benign	Het
Alpi	T	A	1: 87,100,469	I211F	probably damaging	Het
Arfgef3	G	A	10: 18,607,731	A1415V	probably benign	Het
Car3	T	C	3: 14,866,896	V109A	probably damaging	Het
Ccdc114	A	G	7: 45,942,873	E359G	probably damaging	Het
Cdk13	A	T	13: 17,766,586	V17D	probably damaging	Het
Cept1	A	C	3: 106,505,732	S226A	probably damaging	Het
Dbt	A	T	3: 116,548,078	I443L	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Farp2	T	C	1: 93,605,419	L633S	probably damaging	Het
Frmd6	T	G	12: 70,893,726	S382A	probably damaging	Het
Gm26727	T	C	2: 67,432,945	I79M	probably damaging	Het
Hapln1	G	A	13: 89,601,452	G39S	possibly damaging	Het
Ice2	T	A	9: 69,415,448	S408R	probably benign	Het
Lctl	T	C	9: 64,119,763	I131T	possibly damaging	Het
Mvk	C	T	5: 114,460,197		probably benign	Het
Mzt1	T	C	14: 99,047,474		probably null	Het
Ncoa7	T	A	10: 30,704,612	M117L	probably benign	Het
Npy4r	C	T	14: 34,146,883	W149*	probably null	Het
Nr5a2	A	G	1: 136,948,720		probably null	Het
Plg	G	A	17: 12,395,735	E301K	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Rapgef2	T	C	3: 79,074,436	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,316,458	Q51R	probably damaging	Het
Slc47a2	A	T	11: 61,336,233	C170S	probably benign	Het
Slco1b2	A	T	6: 141,671,222	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090	R571H	probably benign	Het
Sp4	G	T	12: 118,300,811		probably null	Het
Tas2r117	T	C	6: 132,803,129	F77L	probably benign	Het
Tbcd	C	T	11: 121,601,961	R875C	probably damaging	Het
Thumpd2	A	G	17: 81,026,801	S453P	probably benign	Het
Vars2	G	T	17: 35,661,933	Q13K	probably benign	Het

Other mutations in Gm5800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Gm5800	APN	14	51713812	missense	possibly damaging	0.96
IGL03325:Gm5800	APN	14	51714526	missense	probably benign
R0037:Gm5800	UTSW	14	51716148	splice site	probably benign
R0597:Gm5800	UTSW	14	51716004	missense	probably benign
R1577:Gm5800	UTSW	14	51714559	missense	probably benign	0.05
R1834:Gm5800	UTSW	14	51716092	missense	possibly damaging	0.85
R1934:Gm5800	UTSW	14	51711939	missense	possibly damaging	0.96
R2169:Gm5800	UTSW	14	51713678	missense	possibly damaging	0.53
R2180:Gm5800	UTSW	14	51715994	nonsense	probably null
R4861:Gm5800	UTSW	14	51716047	missense	probably damaging	0.98
R5267:Gm5800	UTSW	14	51713837	splice site	probably null
R6545:Gm5800	UTSW	14	51711962	missense	possibly damaging	0.73
R6634:Gm5800	UTSW	14	51716138	missense	possibly damaging	0.73
R6925:Gm5800	UTSW	14	51713700	missense	possibly damaging	0.76
R7632:Gm5800	UTSW	14	51716448	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTGGACAGTCTGGAGCTG -3'
(R):5'- GCTTGAAGATAGCTTTCCTGC -3'

Sequencing Primer
(F):5'- ACAGTCTGGAGCTGTTGCATCC -3'
(R):5'- GAAGATAGCTTTCCTGCTCTTTCAGG -3'

Posted On

2016-04-15