Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Gm813'

304124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm813

Ensembl Gene

ENSMUSG00000075002

Gene Name

predicted gene 813

Synonyms

LOC385656, LOC328695

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

58613675-58616978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58615807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 51 (S51L)

Ref Sequence

ENSEMBL: ENSMUSP00000097255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099663]

AlphaFold

Q3UWK9

Predicted Effect

probably benign
Transcript: ENSMUST00000099663
AA Change: S51L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097255
Gene: ENSMUSG00000075002
AA Change: S51L

Domain	Start	End	E-Value	Type
Pfam:Ferritin	14	152	7.4e-16	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		probably benign	Het

Other mutations in Gm813

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02839:Gm813	APN	16	58615847	missense	probably damaging	1.00
IGL03275:Gm813	APN	16	58615756	missense	probably damaging	1.00
R0946:Gm813	UTSW	16	58614712	missense	probably damaging	1.00
R1323:Gm813	UTSW	16	58616915	missense	possibly damaging	0.65
R1323:Gm813	UTSW	16	58616915	missense	possibly damaging	0.65
R1548:Gm813	UTSW	16	58615839	missense	probably benign	0.06
R2382:Gm813	UTSW	16	58615876	splice site	probably null
R2871:Gm813	UTSW	16	58613979	missense	probably benign	0.39
R2871:Gm813	UTSW	16	58613979	missense	probably benign	0.39
R2873:Gm813	UTSW	16	58613979	missense	probably benign	0.39
R2874:Gm813	UTSW	16	58613979	missense	probably benign	0.39
R4690:Gm813	UTSW	16	58613970	missense	probably benign	0.00
R5097:Gm813	UTSW	16	58613864	missense	probably benign	0.15
R5822:Gm813	UTSW	16	58615712	critical splice donor site	probably null
R6234:Gm813	UTSW	16	58614671	missense	probably benign	0.01
R6382:Gm813	UTSW	16	58613910	missense	possibly damaging	0.73
R7170:Gm813	UTSW	16	58615728	nonsense	probably null
R8119:Gm813	UTSW	16	58616848	missense	probably benign	0.00
R9082:Gm813	UTSW	16	58616931	missense	probably benign	0.04
R9360:Gm813	UTSW	16	58613871	missense	probably benign	0.00
R9718:Gm813	UTSW	16	58614611	missense	probably benign	0.02
RF016:Gm813	UTSW	16	58616867	missense	probably damaging	1.00
X0026:Gm813	UTSW	16	58613959	missense	probably benign	0.08

Posted On

2015-04-16