Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03374:Gm5862'

420416

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5862

Ensembl Gene

ENSMUSG00000067700

Gene Name

predicted gene 5862

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

IGL03374

Quality Score

Status

Chromosome

Chromosomal Location

26017278-26022916 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26019512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 153 (R153L)

Ref Sequence

ENSEMBL: ENSMUSP00000072133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072286]

AlphaFold

K7N5V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000072286
AA Change: R153L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072133
Gene: ENSMUSG00000067700
AA Change: R153L

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1.6e-25	PFAM
low complexity region	154	168	N/A	INTRINSIC
low complexity region	235	259	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	G	A	1: 58,171,848	R917Q	probably damaging	Het
Atl1	T	C	12: 69,955,367	Y367H	probably damaging	Het
AW551984	T	C	9: 39,599,766	E175G	possibly damaging	Het
Cacna2d1	T	A	5: 16,356,823	D800E	probably damaging	Het
Cdon	T	A	9: 35,478,003	F801L	possibly damaging	Het
D10Wsu102e	G	A	10: 83,365,707	V115M	probably damaging	Het
Dcaf13	C	T	15: 39,145,148	Q382*	probably null	Het
Dpy19l3	T	C	7: 35,712,208	N367S	possibly damaging	Het
F11	A	G	8: 45,261,074	S3P	possibly damaging	Het
Fam160a2	T	C	7: 105,383,951	E57G	probably damaging	Het
Fryl	A	T	5: 73,110,281		probably benign	Het
Gcnt3	A	T	9: 70,034,413	M291K	possibly damaging	Het
Glg1	T	C	8: 111,162,780	D927G	probably damaging	Het
Gucy2c	T	C	6: 136,765,630	T237A	probably benign	Het
Helz	A	T	11: 107,620,147	I610F	probably damaging	Het
Hpd	T	C	5: 123,172,045	E372G	probably damaging	Het
Hsd17b13	A	G	5: 103,977,098		probably benign	Het
Klhl32	G	A	4: 24,649,533		probably benign	Het
Krt74	T	A	15: 101,760,502		noncoding transcript	Het
Olfr1015	T	C	2: 85,785,709	L66P	probably damaging	Het
Olfr304	T	A	7: 86,386,366	Q98L	probably damaging	Het
Phyhipl	A	G	10: 70,565,279	V163A	possibly damaging	Het
Pknox2	T	A	9: 36,923,670	T168S	probably damaging	Het
Pmfbp1	T	C	8: 109,542,414		probably benign	Het
Sgce	G	A	6: 4,689,718	R372*	probably null	Het
Stard5	T	C	7: 83,636,772	S102P	possibly damaging	Het
Syne2	A	G	12: 76,074,586	K5941R	possibly damaging	Het
Tas2r124	A	T	6: 132,755,118	H130L	probably benign	Het
Ttn	T	C	2: 76,715,683	E32462G	probably damaging	Het
Ube2d3	A	G	3: 135,460,083		probably null	Het
Vps13d	G	T	4: 145,108,575	H1561Q	possibly damaging	Het
Zcchc11	T	C	4: 108,558,777	S1647P	probably damaging	Het

Other mutations in Gm5862

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Gm5862	APN	5	26019516	missense	probably benign
IGL01863:Gm5862	APN	5	26022771	missense	probably benign
IGL01868:Gm5862	APN	5	26022771	missense	probably benign
IGL01873:Gm5862	APN	5	26022771	missense	probably benign
IGL01881:Gm5862	APN	5	26022771	missense	probably benign
IGL01902:Gm5862	APN	5	26022771	missense	probably benign
IGL01905:Gm5862	APN	5	26022771	missense	probably benign
IGL01909:Gm5862	APN	5	26022771	missense	probably benign
IGL01917:Gm5862	APN	5	26022771	missense	probably benign
IGL01924:Gm5862	APN	5	26022771	missense	probably benign
IGL01927:Gm5862	APN	5	26022771	missense	probably benign
IGL01951:Gm5862	APN	5	26022771	missense	probably benign
R2475:Gm5862	UTSW	5	26019492	missense	probably damaging	1.00
R3828:Gm5862	UTSW	5	26019347	missense	probably benign	0.27
R4591:Gm5862	UTSW	5	26019488	missense	possibly damaging	0.95
R6916:Gm5862	UTSW	5	26019348	missense	probably benign
R8291:Gm5862	UTSW	5	26019446	missense	probably benign	0.32
R8927:Gm5862	UTSW	5	26021680	missense	probably damaging	0.98
R8928:Gm5862	UTSW	5	26021680	missense	probably damaging	0.98
R9074:Gm5862	UTSW	5	26021626	missense	probably damaging	0.98
Z1176:Gm5862	UTSW	5	26018487	frame shift	probably null

Posted On

2016-08-02