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

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

IGL03374

Quality Score

Status

Chromosome

Chromosomal Location

26223419-26227889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26224510 bp (GRCm39)

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: 58,211,007 (GRCm39)	R917Q	probably damaging	Het
Atl1	T	C	12: 70,002,141 (GRCm39)	Y367H	probably damaging	Het
AW551984	T	C	9: 39,511,062 (GRCm39)	E175G	possibly damaging	Het
Cacna2d1	T	A	5: 16,561,821 (GRCm39)	D800E	probably damaging	Het
Cdon	T	A	9: 35,389,299 (GRCm39)	F801L	possibly damaging	Het
Dcaf13	C	T	15: 39,008,543 (GRCm39)	Q382*	probably null	Het
Dpy19l3	T	C	7: 35,411,633 (GRCm39)	N367S	possibly damaging	Het
F11	A	G	8: 45,714,111 (GRCm39)	S3P	possibly damaging	Het
Fhip1b	T	C	7: 105,033,158 (GRCm39)	E57G	probably damaging	Het
Fryl	A	T	5: 73,267,624 (GRCm39)		probably benign	Het
Gcnt3	A	T	9: 69,941,695 (GRCm39)	M291K	possibly damaging	Het
Glg1	T	C	8: 111,889,412 (GRCm39)	D927G	probably damaging	Het
Gucy2c	T	C	6: 136,742,628 (GRCm39)	T237A	probably benign	Het
Helz	A	T	11: 107,510,973 (GRCm39)	I610F	probably damaging	Het
Hpd	T	C	5: 123,310,108 (GRCm39)	E372G	probably damaging	Het
Hsd17b13	A	G	5: 104,124,964 (GRCm39)		probably benign	Het
Klhl32	G	A	4: 24,649,533 (GRCm39)		probably benign	Het
Krt74	T	A	15: 101,668,937 (GRCm39)		noncoding transcript	Het
Nopchap1	G	A	10: 83,201,571 (GRCm39)	V115M	probably damaging	Het
Or14a258	T	A	7: 86,035,574 (GRCm39)	Q98L	probably damaging	Het
Or9g4b	T	C	2: 85,616,053 (GRCm39)	L66P	probably damaging	Het
Phyhipl	A	G	10: 70,401,109 (GRCm39)	V163A	possibly damaging	Het
Pknox2	T	A	9: 36,834,966 (GRCm39)	T168S	probably damaging	Het
Pmfbp1	T	C	8: 110,269,046 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,689,718 (GRCm39)	R372*	probably null	Het
Stard5	T	C	7: 83,285,980 (GRCm39)	S102P	possibly damaging	Het
Syne2	A	G	12: 76,121,360 (GRCm39)	K5941R	possibly damaging	Het
Tas2r124	A	T	6: 132,732,081 (GRCm39)	H130L	probably benign	Het
Ttn	T	C	2: 76,546,027 (GRCm39)	E32462G	probably damaging	Het
Tut4	T	C	4: 108,415,974 (GRCm39)	S1647P	probably damaging	Het
Ube2d3	A	G	3: 135,165,844 (GRCm39)		probably null	Het
Vps13d	G	T	4: 144,835,145 (GRCm39)	H1561Q	possibly damaging	Het

Other mutations in Gm5862

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Gm5862	APN	5	26,224,514 (GRCm39)	missense	probably benign
IGL01863:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01868:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01873:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01881:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01902:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01905:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01909:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01917:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01924:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01927:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
IGL01951:Gm5862	APN	5	26,227,769 (GRCm39)	missense	probably benign
R2475:Gm5862	UTSW	5	26,224,490 (GRCm39)	missense	probably damaging	1.00
R3828:Gm5862	UTSW	5	26,224,345 (GRCm39)	missense	probably benign	0.27
R4591:Gm5862	UTSW	5	26,224,486 (GRCm39)	missense	possibly damaging	0.95
R6916:Gm5862	UTSW	5	26,224,346 (GRCm39)	missense	probably benign
R8291:Gm5862	UTSW	5	26,224,444 (GRCm39)	missense	probably benign	0.32
R8927:Gm5862	UTSW	5	26,226,678 (GRCm39)	missense	probably damaging	0.98
R8928:Gm5862	UTSW	5	26,226,678 (GRCm39)	missense	probably damaging	0.98
R9074:Gm5862	UTSW	5	26,226,624 (GRCm39)	missense	probably damaging	0.98
Z1176:Gm5862	UTSW	5	26,223,485 (GRCm39)	frame shift	probably null

Posted On

2016-08-02