Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51949101-51954589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51953504 bp (GRCm39)

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]

AlphaFold

Q497L3

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: 69,076,249 (GRCm39)	R1153H	probably damaging	Het
Ahcy	T	C	2: 154,902,436 (GRCm39)	E411G	probably benign	Het
Alpi	T	A	1: 87,028,191 (GRCm39)	I211F	probably damaging	Het
Arfgef3	G	A	10: 18,483,479 (GRCm39)	A1415V	probably benign	Het
Car3	T	C	3: 14,931,956 (GRCm39)	V109A	probably damaging	Het
Cdk13	A	T	13: 17,941,171 (GRCm39)	V17D	probably damaging	Het
Cept1	A	C	3: 106,413,048 (GRCm39)	S226A	probably damaging	Het
Dbt	A	T	3: 116,341,727 (GRCm39)	I443L	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Farp2	T	C	1: 93,533,141 (GRCm39)	L633S	probably damaging	Het
Frmd6	T	G	12: 70,940,500 (GRCm39)	S382A	probably damaging	Het
Gm26727	T	C	2: 67,263,289 (GRCm39)	I79M	probably damaging	Het
Hapln1	G	A	13: 89,749,571 (GRCm39)	G39S	possibly damaging	Het
Ice2	T	A	9: 69,322,730 (GRCm39)	S408R	probably benign	Het
Lctl	T	C	9: 64,027,045 (GRCm39)	I131T	possibly damaging	Het
Mvk	C	T	5: 114,598,258 (GRCm39)		probably benign	Het
Mzt1	T	C	14: 99,284,910 (GRCm39)		probably null	Het
Ncoa7	T	A	10: 30,580,608 (GRCm39)	M117L	probably benign	Het
Npy4r	C	T	14: 33,868,840 (GRCm39)	W149*	probably null	Het
Nr5a2	A	G	1: 136,876,458 (GRCm39)		probably null	Het
Odad1	A	G	7: 45,592,297 (GRCm39)	E359G	probably damaging	Het
Plg	G	A	17: 12,614,622 (GRCm39)	E301K	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Rapgef2	T	C	3: 78,981,743 (GRCm39)	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,152,322 (GRCm39)	Q51R	probably damaging	Het
Slc47a2	A	T	11: 61,227,059 (GRCm39)	C170S	probably benign	Het
Slco1b2	A	T	6: 141,616,948 (GRCm39)	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090 (GRCm39)	R571H	probably benign	Het
Sp4	G	T	12: 118,264,546 (GRCm39)		probably null	Het
Tas2r117	T	C	6: 132,780,092 (GRCm39)	F77L	probably benign	Het
Tbcd	C	T	11: 121,492,787 (GRCm39)	R875C	probably damaging	Het
Thumpd2	A	G	17: 81,334,230 (GRCm39)	S453P	probably benign	Het
Vars2	G	T	17: 35,972,825 (GRCm39)	Q13K	probably benign	Het

Other mutations in Gm5800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Gm5800	APN	14	51,951,269 (GRCm39)	missense	possibly damaging	0.96
IGL03325:Gm5800	APN	14	51,951,983 (GRCm39)	missense	probably benign
R0037:Gm5800	UTSW	14	51,953,605 (GRCm39)	splice site	probably benign
R0597:Gm5800	UTSW	14	51,953,461 (GRCm39)	missense	probably benign
R1577:Gm5800	UTSW	14	51,952,016 (GRCm39)	missense	probably benign	0.05
R1834:Gm5800	UTSW	14	51,953,549 (GRCm39)	missense	possibly damaging	0.85
R1934:Gm5800	UTSW	14	51,949,396 (GRCm39)	missense	possibly damaging	0.96
R2169:Gm5800	UTSW	14	51,951,135 (GRCm39)	missense	possibly damaging	0.53
R2180:Gm5800	UTSW	14	51,953,451 (GRCm39)	nonsense	probably null
R4861:Gm5800	UTSW	14	51,953,504 (GRCm39)	missense	probably damaging	0.98
R5267:Gm5800	UTSW	14	51,951,294 (GRCm39)	splice site	probably null
R6545:Gm5800	UTSW	14	51,949,419 (GRCm39)	missense	possibly damaging	0.73
R6634:Gm5800	UTSW	14	51,953,595 (GRCm39)	missense	possibly damaging	0.73
R6925:Gm5800	UTSW	14	51,951,157 (GRCm39)	missense	possibly damaging	0.76
R7632:Gm5800	UTSW	14	51,953,905 (GRCm39)	splice site	probably null
R9067:Gm5800	UTSW	14	51,951,995 (GRCm39)	missense	possibly damaging	0.92

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